LOCUS       NM_000812               1939 bp    mRNA    linear   PRI 16-JUN-2024
DEFINITION  Homo sapiens gamma-aminobutyric acid type A receptor subunit beta1
            (GABRB1), mRNA.
ACCESSION   NM_000812
VERSION     NM_000812.4
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 1939)
  AUTHORS   Yang,Q. and Long,F.
  TITLE     MiRNA-384-5p Targets GABRB1 to Regulate Ketamine-Induced
            Neurotoxicity in Neurons
  JOURNAL   Turk Neurosurg 34 (2), 206-215 (2024)
   PUBMED   35416273
  REMARK    GeneRIF: MiRNA-384-5p Targets GABRB1 to Regulate Ketamine-Induced
            Neurotoxicity in Neurons.
REFERENCE   2  (bases 1 to 1939)
  AUTHORS   Hernandez,C.C., Hu,N., Shen,W. and Macdonald,R.L.
  TITLE     Epileptic Encephalopathy GABRB Structural Variants Share Common
            Gating and Trafficking Defects
  JOURNAL   Biomolecules 13 (12), 1790 (2023)
   PUBMED   38136660
  REMARK    GeneRIF: Epileptic Encephalopathy GABRB Structural Variants Share
            Common Gating and Trafficking Defects.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1939)
  AUTHORS   McCabe,W.A., Way,M.J., Ruparelia,K., Knapp,S., Ali,M.A.,
            Anstee,Q.M., Thomas,H.C., McQuillin,A. and Morgan,M.Y.
  TITLE     Genetic variation in GABRbeta1 and the risk for developing alcohol
            dependence
  JOURNAL   Psychiatr Genet 27 (3), 110-115 (2017)
   PUBMED   28346242
  REMARK    GeneRIF: No allelic association was detected in this study between
            tested SNPs and risk for developing alcohol dependence in a British
            and Irish population; however, modest genotypic associations were
            found with several intronic GABRbeta1 SNPs that may directly
            influence alcohol dependence risk or may be in linkage
            disequilibrium with causal risk variants in nearby genes, including
            other GABA receptor subunits
REFERENCE   4  (bases 1 to 1939)
  AUTHORS   Sundar,I.K., Yin,Q., Baier,B.S., Yan,L., Mazur,W., Li,D.,
            Susiarjo,M. and Rahman,I.
  TITLE     DNA methylation profiling in peripheral lung tissues of smokers and
            patients with COPD
  JOURNAL   Clin Epigenetics 9, 38 (2017)
   PUBMED   28416970
  REMARK    GeneRIF: Results from genome-wide DNA methylation, functional
            network analysis and pyrosequencing, show selective CpG sites
            (NOS1AP, BID, and GABRB1) differentially methylated in smokers and
            chronic obstructive pulmonary disease patients compared to
            nonsmokers.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1939)
  AUTHORS   Janve,V.S., Hernandez,C.C., Verdier,K.M., Hu,N. and Macdonald,R.L.
  TITLE     Epileptic encephalopathy de novo GABRB mutations impair
            gamma-aminobutyric acid type A receptor function
  JOURNAL   Ann Neurol 79 (5), 806-825 (2016)
   PUBMED   26950270
REFERENCE   6  (bases 1 to 1939)
  AUTHORS   Moss,S.J., Smart,T.G., Blackstone,C.D. and Huganir,R.L.
  TITLE     Functional modulation of GABAA receptors by cAMP-dependent protein
            phosphorylation
  JOURNAL   Science 257 (5070), 661-665 (1992)
   PUBMED   1323140
REFERENCE   7  (bases 1 to 1939)
  AUTHORS   Moss,S.J., Doherty,C.A. and Huganir,R.L.
  TITLE     Identification of the cAMP-dependent protein kinase and protein
            kinase C phosphorylation sites within the major intracellular
            domains of the beta 1, gamma 2S, and gamma 2L subunits of the
            gamma-aminobutyric acid type A receptor
  JOURNAL   J Biol Chem 267 (20), 14470-14476 (1992)
   PUBMED   1321150
REFERENCE   8  (bases 1 to 1939)
  AUTHORS   Dean,M., Lucas-Derse,S., Bolos,A., O'Brien,S.J., Kirkness,E.F.,
            Fraser,C.M. and Goldman,D.
  TITLE     Genetic mapping of the beta 1 GABA receptor gene to human
            chromosome 4, using a tetranucleotide repeat polymorphism
  JOURNAL   Am J Hum Genet 49 (3), 621-626 (1991)
   PUBMED   1652891
REFERENCE   9  (bases 1 to 1939)
  AUTHORS   Kirkness,E.F., Kusiak,J.W., Fleming,J.T., Menninger,J.,
            Gocayne,J.D., Ward,D.C. and Venter,J.C.
  TITLE     Isolation, characterization, and localization of human genomic DNA
            encoding the beta 1 subunit of the GABAA receptor (GABRB1)
  JOURNAL   Genomics 10 (4), 985-995 (1991)
   PUBMED   1655634
REFERENCE   10 (bases 1 to 1939)
  AUTHORS   Garrett,K.M., Saito,N., Duman,R.S., Abel,M.S., Ashton,R.A.,
            Fujimori,S., Beer,B., Tallman,J.F., Vitek,M.P. and Blume,A.J.
  TITLE     Differential expression of gamma-aminobutyric acidA receptor
            subunits
  JOURNAL   Mol Pharmacol 37 (5), 652-657 (1990)
   PUBMED   2160058
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC107392.6, AC105394.3 and
            AC097712.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_000812.3.
            
            Summary: The gamma-aminobutyric acid (GABA) A receptor is a
            multisubunit chloride channel that mediates the fastest inhibitory
            synaptic transmission in the central nervous system. This gene
            encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome
            4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and
            gamma 1 subunits of the GABA A receptor. Alteration of this gene is
            implicated in the pathogenetics of schizophrenia. [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 :: SRR3476690.651721.1,
                                           SRR3476690.105677.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2151741
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000295454.8/ ENSP00000295454.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-165               AC107392.6         31146-31310
            166-257             AC107392.6         31493-31584
            258-325             AC107392.6         31996-32063
            326-546             AC105394.3         69497-69717
            547-629             AC097712.3         72248-72330
            630-767             AC097712.3         155439-155576
            768-920             AC097712.3         155680-155832
            921-1165            AC097712.3         158803-159047
            1166-1939           AC097712.3         177795-178568
FEATURES             Location/Qualifiers
     source          1..1939
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p12"
     gene            1..1939
                     /gene="GABRB1"
                     /gene_synonym="DEE45; EIEE45"
                     /note="gamma-aminobutyric acid type A receptor subunit
                     beta1"
                     /db_xref="GeneID:2560"
                     /db_xref="HGNC:HGNC:4081"
                     /db_xref="MIM:137190"
     exon            1..165
                     /gene="GABRB1"
                     /gene_synonym="DEE45; EIEE45"
                     /inference="alignment:Splign:2.1.0"
     CDS             86..1510
                     /gene="GABRB1"
                     /gene_synonym="DEE45; EIEE45"
                     /note="gamma-aminobutyric acid receptor subunit beta-1;
                     gamma-aminobutyric acid (GABA) A receptor, beta 1;
                     gamma-aminobutyric acid type A receptor beta1 subunit;
                     GABAAR subunit beta-1"
                     /codon_start=1
                     /product="gamma-aminobutyric acid receptor subunit beta-1
                     precursor"
                     /protein_id="NP_000803.2"
                     /db_xref="CCDS:CCDS3474.1"
                     /db_xref="GeneID:2560"
                     /db_xref="HGNC:HGNC:4081"
                     /db_xref="MIM:137190"
                     /translation="MWTVQNRESLGLLSFPVMITMVCCAHSTNEPSNMSYVKETVDRL
                     LKGYDIRLRPDFGGPPVDVGMRIDVASIDMVSEVNMDYTLTMYFQQSWKDKRLSYSGI
                     PLNLTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAA
                     CMMDLRRYPLDEQNCTLEIESYGYTTDDIEFYWNGGEGAVTGVNKIELPQFSIVDYKM
                     VSKKVEFTTGAYPRLSLSFRLKRNIGYFILQTYMPSTLITILSWVSFWINYDASAARV
                     ALGITTVLTMTTISTHLRETLPKIPYVKAIDIYLMGCFVFVFLALLEYAFVNYIFFGK
                     GPQKKGASKQDQSANEKNKLEMNKVQVDAHGNILLSTLEIRNETSGSEVLTSVSDPKA
                     TMYSYDSASIQYRKPLSSREAYGRALDRHGVPSKGRIRRRASQLKVKIPDLTDVNSID
                     KWSRMFFPITFSLFNVVYWLYYVH"
     exon            166..257
                     /gene="GABRB1"
                     /gene_synonym="DEE45; EIEE45"
                     /inference="alignment:Splign:2.1.0"
     exon            258..325
                     /gene="GABRB1"
                     /gene_synonym="DEE45; EIEE45"
                     /inference="alignment:Splign:2.1.0"
     exon            326..546
                     /gene="GABRB1"
                     /gene_synonym="DEE45; EIEE45"
                     /inference="alignment:Splign:2.1.0"
     exon            547..629
                     /gene="GABRB1"
                     /gene_synonym="DEE45; EIEE45"
                     /inference="alignment:Splign:2.1.0"
     exon            630..767
                     /gene="GABRB1"
                     /gene_synonym="DEE45; EIEE45"
                     /inference="alignment:Splign:2.1.0"
     exon            768..920
                     /gene="GABRB1"
                     /gene_synonym="DEE45; EIEE45"
                     /inference="alignment:Splign:2.1.0"
     exon            921..1165
                     /gene="GABRB1"
                     /gene_synonym="DEE45; EIEE45"
                     /inference="alignment:Splign:2.1.0"
     exon            1166..1939
                     /gene="GABRB1"
                     /gene_synonym="DEE45; EIEE45"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 attcgggaat tactgcccag cagccgacta agttgcattc cttgaatctt cgcagaaaag
       61 acaattcttt taatcagagt tagtaatgtg gacagtacaa aatcgagaga gtctggggct
      121 tctctctttc cctgtgatga ttaccatggt ctgttgtgca cacagcacca atgaacccag
      181 caacatgtca tacgtgaaag agacagtgga cagattgctc aaaggatatg acattcgctt
      241 gcggccggac ttcggagggc cccccgtcga cgttgggatg cggatcgatg tcgccagcat
      301 agacatggtc tccgaagtga atatggatta tacactcacc atgtatttcc agcagtcttg
      361 gaaagacaaa aggctttctt attctggaat cccactgaac ctcaccctag acaatagggt
      421 agctgaccaa ctctgggtac cagacaccta ctttctgaat gacaagaaat catttgtgca
      481 tggggtcaca gtgaaaaatc gaatgattcg actgcatcct gatggaacag ttctctatgg
      541 actccgaatc acaaccacag ctgcatgtat gatggatctt cgaagatatc cattggatga
      601 gcagaactgc accctggaga tcgaaagtta tggctatacc actgatgaca ttgaatttta
      661 ctggaatgga ggagaagggg cagtcactgg tgttaataaa atcgaacttc ctcaattttc
      721 aattgttgac tacaagatgg tgtctaagaa ggtggagttc acaacaggag cgtatccacg
      781 actgtcacta agttttcgtc taaagagaaa cattggttac ttcattttgc aaacctacat
      841 gccttctaca ctgattacaa ttctgtcctg ggtgtctttt tggatcaact atgatgcatc
      901 tgcagccaga gtcgcactag gaatcacgac agtgcttaca atgacaacca tcagcaccca
      961 cctcagggag accctgccaa agatccctta tgtcaaagcg attgatattt atctgatggg
     1021 ttgctttgtg tttgtgttcc tggctctgct ggagtatgcc tttgtaaatt acatcttctt
     1081 tgggaaaggc cctcagaaaa agggagctag caaacaagac cagagtgcca atgagaagaa
     1141 taaactggag atgaataaag tccaggtcga cgcccacggt aacattctcc tcagcaccct
     1201 ggaaatccgg aatgagacga gtggctcgga agtgctcacg agcgtgagcg accccaaggc
     1261 caccatgtac tcctatgaca gcgccagcat ccagtaccgc aagcccctga gcagccgcga
     1321 ggcctacggg cgcgccctgg accggcacgg ggtacccagc aaggggcgca tccgcaggcg
     1381 tgcctcccag ctcaaagtca agatccccga cttgactgat gtgaattcca tagacaagtg
     1441 gtcccgaatg tttttcccca tcaccttttc tctttttaat gtcgtctatt ggctttacta
     1501 tgtacactga ggtctgttct aatggttcca tttagactac tttcctcttc tattgttttt
     1561 taaccttaca ggtccccaac agcgatactg ctgtttctcg aggtaagaga ttcagccatc
     1621 caattggttt taggtcttgc atatcagttt tattactgca ccatgtttac ttcaaaaaga
     1681 caaaacaaaa aaaaaattat ttttccagtc taccgtggtc caggttatca gctctttaag
     1741 agctctatta attgccatgt ttacaaacaa acacaaagag agaagttaga caggtagatc
     1801 tttagcagtc ttttctagtt tccctggatt tcactgattt attttttagg gaaaatgaaa
     1861 agaggacctt gctgtccgcc tgcactgctt cctggtaaac tataacaaac ttatgctgcc
     1921 aaaaaaaaaa aaaaaaaaa
//
