LOCUS       NM_000811               2450 bp    mRNA    linear   PRI 16-JUN-2024
DEFINITION  Homo sapiens gamma-aminobutyric acid type A receptor subunit alpha6
            (GABRA6), mRNA.
ACCESSION   NM_000811
VERSION     NM_000811.3
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 2450)
  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   2  (bases 1 to 2450)
  AUTHORS   Ghit,A., Assal,D., Al-Shami,A.S. and Hussein,D.E.E.
  TITLE     GABAA receptors: structure, function, pharmacology, and related
            disorders
  JOURNAL   J Genet Eng Biotechnol 19 (1), 123 (2021)
   PUBMED   34417930
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2450)
  AUTHORS   Gonda,X., Sarginson,J., Eszlari,N., Petschner,P., Toth,Z.G.,
            Baksa,D., Hullam,G., Anderson,I.M., Deakin,J.F.W., Juhasz,G. and
            Bagdy,G.
  TITLE     A new stress sensor and risk factor for suicide: the T allele of
            the functional genetic variant in the GABRA6 gene
  JOURNAL   Sci Rep 7 (1), 12887 (2017)
   PUBMED   29018204
  REMARK    GeneRIF: stress-associated suicide risk is elevated in carriers of
            the GABRA6 rs3219151 T allele with several independent markers and
            predictors of suicidal behaviours converging to this increased
            risk.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2450)
  AUTHORS   Chua,H.C. and Chebib,M.
  TITLE     GABAA Receptors and the Diversity in their Structure and
            Pharmacology
  JOURNAL   Adv Pharmacol 79, 1-34 (2017)
   PUBMED   28528665
  REMARK    Review article
REFERENCE   5  (bases 1 to 2450)
  AUTHORS   Lynch,M., Manly,J.T. and Cicchetti,D.
  TITLE     A multilevel prediction of physiological response to challenge:
            Interactions among child maltreatment, neighborhood crime,
            endothelial nitric oxide synthase gene (eNOS), and GABA(A) receptor
            subunit alpha-6 gene (GABRA6)
  JOURNAL   Dev Psychopathol 27 (4 Pt 2), 1471-1487 (2015)
   PUBMED   26535938
  REMARK    GeneRIF: NOS3, GABRA6, child abuse, neighborhood crime Gene x Gene,
            Environment x Environment, and Gene x Environment interactions are
            associated with different patterns of respiratory sinus arrhythmia
            reactivity.
REFERENCE   6  (bases 1 to 2450)
  AUTHORS   Comings,D.E., Gade-Andavolu,R., Gonzalez,N., Wu,S., Muhleman,D.,
            Blake,H., Mann,M.B., Dietz,G., Saucier,G. and MacMurray,J.P.
  TITLE     A multivariate analysis of 59 candidate genes in personality
            traits: the temperament and character inventory
  JOURNAL   Clin Genet 58 (5), 375-385 (2000)
   PUBMED   11140838
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   7  (bases 1 to 2450)
  AUTHORS   Russek,S.J.
  TITLE     Evolution of GABA(A) receptor diversity in the human genome
  JOURNAL   Gene 227 (2), 213-222 (1999)
   PUBMED   10023064
REFERENCE   8  (bases 1 to 2450)
  AUTHORS   Hadingham,K.L., Garrett,E.M., Wafford,K.A., Bain,C., Heavens,R.P.,
            Sirinathsinghji,D.J. and Whiting,P.J.
  TITLE     Cloning of cDNAs encoding the human gamma-aminobutyric acid type A
            receptor alpha 6 subunit and characterization of the pharmacology
            of alpha 6-containing receptors
  JOURNAL   Mol Pharmacol 49 (2), 253-259 (1996)
   PUBMED   8632757
REFERENCE   9  (bases 1 to 2450)
  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   10 (bases 1 to 2450)
  AUTHORS   Hicks,A.A., Bailey,M.E., Riley,B.P., Kamphuis,W., Siciliano,M.J.,
            Johnson,K.J. and Darlison,M.G.
  TITLE     Further evidence for clustering of human GABAA receptor subunit
            genes: localization of the alpha 6-subunit gene (GABRA6) to distal
            chromosome 5q by linkage analysis
  JOURNAL   Genomics 20 (2), 285-288 (1994)
   PUBMED   8020978
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA068807.1, BC096241.3 and
            AC091944.2.
            
            On Nov 22, 2018 this sequence version replaced NM_000811.2.
            
            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].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because transcript sequence consistent with
            the reference genome assembly was not available for all regions of
            the RefSeq transcript. The extent of this transcript is supported
            by transcript alignments.
            
            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 :: SRR1660809.258927.1,
                                           SRR1660803.145888.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03465402, SAMN03465403
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000274545.10/ ENSP00000274545.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-417               DA068807.1         147-563
            418-1219            BC096241.3         175-976
            1220-1220           AC091944.2         103995-103995       c
            1221-1612           BC096241.3         978-1369
            1613-2450           AC091944.2         93468-94305         c
FEATURES             Location/Qualifiers
     source          1..2450
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q34"
     gene            1..2450
                     /gene="GABRA6"
                     /note="gamma-aminobutyric acid type A receptor subunit
                     alpha6"
                     /db_xref="GeneID:2559"
                     /db_xref="HGNC:HGNC:4080"
                     /db_xref="MIM:137143"
     exon            1..307
                     /gene="GABRA6"
                     /inference="alignment:Splign:2.1.0"
     exon            308..426
                     /gene="GABRA6"
                     /inference="alignment:Splign:2.1.0"
     exon            427..494
                     /gene="GABRA6"
                     /inference="alignment:Splign:2.1.0"
     exon            495..715
                     /gene="GABRA6"
                     /inference="alignment:Splign:2.1.0"
     exon            716..798
                     /gene="GABRA6"
                     /inference="alignment:Splign:2.1.0"
     exon            799..942
                     /gene="GABRA6"
                     /inference="alignment:Splign:2.1.0"
     exon            943..1095
                     /gene="GABRA6"
                     /inference="alignment:Splign:2.1.0"
     exon            1096..1355
                     /gene="GABRA6"
                     /inference="alignment:Splign:2.1.0"
     exon            1356..2450
                     /gene="GABRA6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2430..2435
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GABRA6"
                     /note="hexamer: AATAAA"
     polyA_site      2450
                     /gene="GABRA6"
                     /note="major polyA site"
ORIGIN      
        1 agtcagagga gcctgggtgt ctgcaggaca taatctaaga ccacaaacca ccttgttcca
       61 cgtgagaagg aaacaagaaa gaagggagcc aggggaatcc tgcaaatttt taggcaacct
      121 ctttatctat tggattactg acttgaggca aacaaggaac agagatatga agggtttgaa
      181 agatttctcc agttgattgg cagagaagag ctggctagca gggaggacga ccctaggagg
      241 gtgaattctg catttcagtg cactgcagga tggcgtcgtc tctgccctgg ctgtgcatta
      301 ttctgtggct agaaaatgcc ctagggaaac tcgaagttga aggcaacttc tactcagaaa
      361 acgtcagtcg gatcctggac aacttgcttg aaggctatga caatcggctg cggccgggat
      421 ttggaggtgc tgtcactgaa gtcaaaacag acatttatgt gaccagtttt gggcccgtgt
      481 cagatgtgga gatggagtat acgatggatg tttttttccg ccagacctgg actgatgaga
      541 ggttgaagtt tggggggcca actgagattc tgagtctgaa taatttgatg gtcagtaaaa
      601 tctggacgcc tgacaccttt ttcagaaatg gtaaaaagtc cattgctcac aacatgacaa
      661 ctcctaataa actcttcaga ataatgcaga atggaaccat tttatacacc atgaggctta
      721 ccatcaatgc tgactgtccc atgaggctgg ttaactttcc tatggatggg catgcttgtc
      781 cactcaagtt tgggagctat gcttatccca aaagtgaaat catatatacg tggaaaaaag
      841 gaccacttta ctcagtagaa gtcccagaag aatcttcaag ccttctccag tatgatctga
      901 ttggacaaac agtatctagt gagacaatta aatctaacac aggtgaatac gttataatga
      961 cagtttactt ccacttgcaa aggaagatgg gctacttcat gatacagata tacactcctt
     1021 gcattatgac agtcattctt tcccaggtgt ctttctggat taataaggag tccgtcccag
     1081 caagaactgt ttttgggatc accactgttt taactatgac cactttgagc atcagtgccc
     1141 ggcactcttt gccaaaagtg tcatatgcca ctgccatgga ttggttcata gctgtttgct
     1201 ttgcattcgt cttctctgcg cttatcgagt tcgcagctgt caactacttt accaatcttc
     1261 agacacagaa ggccaaaagg aaggcacagt ttgcagcccc acccacagtg acaatatcaa
     1321 aagctactga acctttggaa gctgagattg ttttgcatcc tgactccaaa tatcatctga
     1381 agaaaaggat cacttctctg tctttgccaa tagtttcatc ttccgaggcc aataaagtgc
     1441 tcacgagagc gcccatctta caatcaacac ctgtcacacc cccaccactc tcgccagcct
     1501 ttggaggcac cagtaaaata gaccagtatt ctcgaattct cttcccagtt gcatttgcag
     1561 gattcaacct tgtgtactgg gtagtttatc tttccaaaga tacaatggaa gtcagtagca
     1621 gtgttgaata gcttgcggcc aggacaacct gaattctata agttcttgtt ttctgtttcc
     1681 tatgttttct taaaaaatag cattgagact tgtgtagatg cttctcagaa catgaaatca
     1741 aattggaaat ctgtaacgca gcttccgtaa gcatgtgtgg gcaaaaaagc aataatccta
     1801 ctcctcaaaa tagaaagttg aagattgctg aaaaatatga cttttctgta tgttagagaa
     1861 aaactttatg aggatgaaat gggttcaaga tgaatttgtc aacttttgtc ttccattgtt
     1921 cagtattttt aattgtcact gtaaataaca tttaccacaa ggcagataaa ataagaaatg
     1981 ctgacacttc caaaggttgc cttaaaatat gtttattttg gcttagttcc cgagagggca
     2041 aaatataaat acagtctaaa tatttatcag taggttaata ccagcatgtt ggaggccttt
     2101 atgctagtaa aatggctttc agtggcattg taaagcctac attgagctta gccatttgtt
     2161 tttaacctcg ctgtgctctt ttacctcaat aaaatgtggt gtttgtatac atataaatta
     2221 tacatagctc ataaattatg tatgcatatg tacatagctg tagttggact aaaattcagt
     2281 gtgttttatc ctactaaatt ctccttttaa aataatacac ttaccataat tctatgaggt
     2341 tgtagaaaaa agtactcatt ataaggaagc cttgtatatt atgactatgg ttatctcttg
     2401 tgttttccac atttccaatt ataacactaa ataaaacaac aataaacatg
//
