LOCUS       NM_000810               2553 bp    mRNA    linear   PRI 01-AUG-2024
DEFINITION  Homo sapiens gamma-aminobutyric acid type A receptor subunit alpha5
            (GABRA5), transcript variant 1, mRNA.
ACCESSION   NM_000810
VERSION     NM_000810.4
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 2553)
  AUTHORS   Chakraborty,A., Dey,S., Kumar,K., Dixit,A.B., Tripathi,M.,
            Sharma,M.C., Chandra,P.S. and Banerjee,J.
  TITLE     Novel variants in GABAA receptor subunits: A possible association
            with benzodiazepine resistance in patients with drug-resistant
            epilepsy
  JOURNAL   Epilepsy Res 189, 107056 (2023)
   PUBMED   36469977
  REMARK    GeneRIF: Novel variants in GABAA receptor subunits: A possible
            association with benzodiazepine resistance in patients with
            drug-resistant epilepsy.
REFERENCE   2  (bases 1 to 2553)
  AUTHORS   Arandelovic,J., Santrac,A., Batinic,B., Todorovic,L.,
            Stevanovic,V., Tiruveedhula,V.V.N.P.B., Sharmin,D., Rashid,F.,
            Stanojevic,B., Cook,J.M. and Savic,M.M.
  TITLE     Effects of alpha5 GABAA receptor modulation on social interaction,
            memory, and neuroinflammation in a mouse model of Alzheimer's
            disease
  JOURNAL   CNS Neurosci Ther 28 (11), 1767-1778 (2022)
   PUBMED   35822698
  REMARK    GeneRIF: Effects of alpha5 GABAA receptor modulation on social
            interaction, memory, and neuroinflammation in a mouse model of
            Alzheimer's disease.
REFERENCE   3  (bases 1 to 2553)
  AUTHORS   Saha,S., Chatterjee,M., Dutta,N., Sinha,S. and Mukhopadhyay,K.
  TITLE     GABA Receptor SNPs and Elevated Plasma GABA Levels Affect the
            Severity of the Indian ASD Probands
  JOURNAL   J Mol Neurosci 72 (6), 1300-1312 (2022)
   PUBMED   35562522
  REMARK    GeneRIF: GABA Receptor SNPs and Elevated Plasma GABA Levels Affect
            the Severity of the Indian ASD Probands.
REFERENCE   4  (bases 1 to 2553)
  AUTHORS   Hou,S.J., Tsai,S.J., Kuo,P.H., Lin,W.Y., Liu,Y.L., Yang,A.C.,
            Lin,E. and Lan,T.H.
  TITLE     An association study in the Taiwan Biobank elicits the GABAA
            receptor genes GABRB3, GABRA5, and GABRG3 as candidate loci for
            sleep duration in the Taiwanese population
  JOURNAL   BMC Med Genomics 14 (1), 223 (2021)
   PUBMED   34530807
  REMARK    GeneRIF: An association study in the Taiwan Biobank elicits the
            GABAA receptor genes GABRB3, GABRA5, and GABRG3 as candidate loci
            for sleep duration in the Taiwanese population.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2553)
  AUTHORS   Janeczek,P., Colson,N., Dodd,P.R. and Lewohl,J.M.
  TITLE     Sex Differences in the Expression of the alpha5 Subunit of the
            GABAA Receptor in Alcoholics with and without Cirrhosis of the
            Liver
  JOURNAL   Alcohol Clin Exp Res 44 (2), 423-434 (2020)
   PUBMED   31840824
  REMARK    GeneRIF: Sex Differences in the Expression of the alpha5 Subunit of
            the GABAA Receptor in Alcoholics with and without Cirrhosis of the
            Liver.
REFERENCE   6  (bases 1 to 2553)
  AUTHORS   Glatt,K., Glatt,H. and Lalande,M.
  TITLE     Structure and organization of GABRB3 and GABRA5
  JOURNAL   Genomics 41 (1), 63-69 (1997)
   PUBMED   9126483
  REMARK    Erratum:[1997 Aug 15;44(1):155]
REFERENCE   7  (bases 1 to 2553)
  AUTHORS   Russek,S.J. and Farb,D.H.
  TITLE     Mapping of the beta 2 subunit gene (GABRB2) to microdissected human
            chromosome 5q34-q35 defines a gene cluster for the most abundant
            GABAA receptor isoform
  JOURNAL   Genomics 23 (3), 528-533 (1994)
   PUBMED   7851879
REFERENCE   8  (bases 1 to 2553)
  AUTHORS   Knoll,J.H., Sinnett,D., Wagstaff,J., Glatt,K., Wilcox,A.S.,
            Whiting,P.M., Wingrove,P., Sikela,J.M. and Lalande,M.
  TITLE     FISH ordering of reference markers and of the gene for the alpha 5
            subunit of the gamma-aminobutyric acid receptor (GABRA5) within the
            Angelman and Prader-Willi syndrome chromosomal regions
  JOURNAL   Hum Mol Genet 2 (2), 183-189 (1993)
   PUBMED   8388764
REFERENCE   9  (bases 1 to 2553)
  AUTHORS   Glatt,K.A., Sinnett,D. and Lalande,M.
  TITLE     Dinucleotide repeat polymorphism at the GABAA receptor alpha 5
            (GABRA5) locus at chromosome 15q11-q13
  JOURNAL   Hum Mol Genet 1 (5), 348 (1992)
   PUBMED   1338907
REFERENCE   10 (bases 1 to 2553)
  AUTHORS   Wingrove,P., Hadingham,K., Wafford,K., Kemp,J.A., Ragan,C.I. and
            Whiting,P.
  TITLE     Cloning and expression of a cDNA encoding the human GABA-A receptor
            alpha 5 subunit
  JOURNAL   Biochem Soc Trans 20 (1), 18S (1992)
   PUBMED   1321750
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from L08485.1, BC113422.1,
            BC011403.1 and R49008.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000810.3.
            
            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. Transcript variants
            utilizing three different alternative non-coding first exons have
            been described. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 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 :: SRR1660803.21771.1,
                                           SRR1660803.71543.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2147975
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000335625.10/ ENSP00000335592.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1163              L08485.1           117-1279
            1164-1608           BC113422.1         1119-1563
            1609-2547           BC011403.1         1567-2505
            2548-2553           R49008.1           15-20               c
FEATURES             Location/Qualifiers
     source          1..2553
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q12"
     gene            1..2553
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /note="gamma-aminobutyric acid type A receptor subunit
                     alpha5"
                     /db_xref="GeneID:2558"
                     /db_xref="HGNC:HGNC:4079"
                     /db_xref="MIM:137142"
     exon            1..50
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /inference="alignment:Splign:2.1.0"
     exon            51..115
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /inference="alignment:Splign:2.1.0"
     exon            116..275
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /inference="alignment:Splign:2.1.0"
     CDS             190..1578
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /note="GABA(A) receptor subunit alpha-5;
                     gamma-aminobutyric acid type A receptor alpha5 subunit;
                     gamma-aminobutyric acid (GABA) A receptor, alpha 5; GABAAR
                     subunit alpha-5"
                     /codon_start=1
                     /product="gamma-aminobutyric acid receptor subunit alpha-5
                     precursor"
                     /protein_id="NP_000801.1"
                     /db_xref="CCDS:CCDS45194.1"
                     /db_xref="GeneID:2558"
                     /db_xref="HGNC:HGNC:4079"
                     /db_xref="MIM:137142"
                     /translation="MDNGMFSGFIMIKNLLLFCISMNLSSHFGFSQMPTSSVKDETND
                     NITIFTRILDGLLDGYDNRLRPGLGERITQVRTDIYVTSFGPVSDTEMEYTIDVFFRQ
                     SWKDERLRFKGPMQRLPLNNLLASKIWTPDTFFHNGKKSIAHNMTTPNKLLRLEDDGT
                     LLYTMRLTISAECPMQLEDFPMDAHACPLKFGSYAYPNSEVVYVWTNGSTKSVVVAED
                     GSRLNQYHLMGQTVGTENISTSTGEYTIMTAHFHLKRKIGYFVIQTYLPCIMTVILSQ
                     VSFWLNRESVPARTVFGVTTVLTMTTLSISARNSLPKVAYATAMDWFIAVCYAFVFSA
                     LIEFATVNYFTKRGWAWDGKKALEAAKIKKKREVILNKSTNAFTTGKMSHPPNIPKEQ
                     TPAGTSNTTSVSVKPSEEKTSESKKTYNSISKIDKMSRIVFPVLFGTFNLVYWATYLN
                     REPVIKGAASPK"
     exon            276..397
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /inference="alignment:Splign:2.1.0"
     exon            398..465
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /inference="alignment:Splign:2.1.0"
     exon            466..686
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /inference="alignment:Splign:2.1.0"
     exon            687..769
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /inference="alignment:Splign:2.1.0"
     exon            770..913
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /inference="alignment:Splign:2.1.0"
     exon            914..1066
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /inference="alignment:Splign:2.1.0"
     exon            1067..1278
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /inference="alignment:Splign:2.1.0"
     exon            1279..2553
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2528..2533
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /note="hexamer: AATAAA"
     polyA_site      2553
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /note="major polyA site"
ORIGIN      
        1 gcagagggcc gatcctccag cccagagacg acatgtggcg ctcgggcgag tgccttgcag
       61 agagaggagt agcttgctgg ctttgaacgc gtggcgtggc agatatttca gaaagcttca
      121 agaacaagct ggagaaggga agagttattc ctccatattc acctgcttca actactattc
      181 ttattgggaa tggacaatgg aatgttctct ggttttatca tgatcaaaaa cctccttctc
      241 ttttgtattt ccatgaactt atccagtcac tttggctttt cacagatgcc aaccagttca
      301 gtgaaagatg agaccaatga caacatcacg atatttacca ggatcttgga tgggctcttg
      361 gatggctacg acaacagact tcggcccggg ctgggagagc gcatcactca ggtgaggacc
      421 gacatctacg tcaccagctt cggcccggtg tccgacacgg aaatggagta caccatagac
      481 gtgtttttcc gacaaagctg gaaagatgaa aggcttcggt ttaaggggcc catgcagcgc
      541 ctccctctca acaacctcct tgccagcaag atctggaccc cagacacgtt cttccacaac
      601 gggaagaagt ccatcgctca caacatgacc acgcccaaca agctgctgcg gctggaggac
      661 gacggcaccc tgctctacac catgcgcttg accatctctg cagagtgccc catgcagctt
      721 gaggacttcc cgatggatgc gcacgcttgc cctctgaaat ttggcagcta tgcgtaccct
      781 aattctgaag tcgtttacgt ctggaccaac ggctccacca agtcggtggt ggtggcggaa
      841 gatggctcca gactgaacca gtaccacctg atggggcaga cggtgggcac tgagaacatc
      901 agcaccagca caggcgaata cacaatcatg acagctcact tccacctgaa aaggaagatt
      961 ggctactttg tcatccagac ctaccttccc tgcataatga ccgtgatctt atcacaggtg
     1021 tccttttggc tgaaccggga atcagtccca gccaggacag tttttggggt caccacggtg
     1081 ctgaccatga cgaccctcag catcagcgcc aggaactctc tgcccaaagt ggcctacgcc
     1141 accgccatgg actggttcat agccgtgtgc tatgccttcg tcttctcggc gctgatagag
     1201 tttgccacgg tcaattactt taccaagaga ggctgggcct gggatggcaa aaaagccttg
     1261 gaagcagcca agatcaagaa aaagcgtgaa gtcatactaa ataagtcaac aaacgctttt
     1321 acaactggga agatgtctca ccccccaaac attccgaagg aacagacccc agcagggacg
     1381 tcgaatacaa cctcagtctc agtaaaaccc tctgaagaga agacttctga aagcaaaaag
     1441 acttacaaca gtatcagcaa aattgacaaa atgtcccgaa tcgtattccc agtcttgttc
     1501 ggcactttca acttagttta ctgggcaacg tatttgaata gggagccggt gataaaagga
     1561 gccgcctctc caaaataacc ggccacactc ccaaactcca agacagccat acttccagcg
     1621 aaatggtacc aaggagaggt cttgctcaca gggactctcc atatgtgagc actatctttc
     1681 aggaaatttt tgcatgttta ataatatgta caaataatat tgccttgatg tttctatatg
     1741 taacttcaga tgtttccaag atgtcccatt gataattcga gcaaacaact ttctggaaaa
     1801 acaggatacg atgactgaca ctcagatgcc cagtatcata cgttgatagt ttacaaacaa
     1861 gatacgtata tttttaactg cttcaagtgt tacctaacaa tgttttttat acttcaaatg
     1921 tcatttcata caaattttcc cagtgaataa atattttagg aaactctcca tgattattag
     1981 ttgaccaact atattgcgag aaacagagat cataaagagc acgttttcca ttatgaggaa
     2041 acttggacat ttatgtacaa aatgaattgc ctttgataat tcttactgtt ctgaaattag
     2101 gaaagtactg catgatctta cacgaagaaa tagaataggc aaacttttat gcaggcagat
     2161 taataacaga aatacatcat atgttagata cacaaaatat ttccctgagg aaaaaaaatc
     2221 aactgcttaa attttttggg aagaaaaaga aacatttctt accccacacc acccactacc
     2281 tgaacaatag ccaagaaagg aaaggagatg ttaaaacaaa cagtgttttg atgacattct
     2341 cagcacttgg cccatgtgat cgctgtctct gaaacactga ccacctctcc ctacagccag
     2401 cgtgtagtgc ttcagtggtg agaaattgta attgagttat tttccatttt atttccttgt
     2461 atgtatttca tgactggact tactgctctg tcagcttttg tatatgaatc ttaaatgttc
     2521 attaaaaaat aaaaaatgaa ctgatcttgt gga
//
