LOCUS       NM_173536               6758 bp    mRNA    linear   PRI 16-JUN-2024
DEFINITION  Homo sapiens gamma-aminobutyric acid type A receptor subunit gamma1
            (GABRG1), mRNA.
ACCESSION   NM_173536
VERSION     NM_173536.4
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 6758)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 6758)
  AUTHORS   Pierce,S.R., Senneff,T.C., Germann,A.L. and Akk,G.
  TITLE     Steady-state activation of the high-affinity isoform of the
            alpha4beta2delta GABAA receptor
  JOURNAL   Sci Rep 9 (1), 15997 (2019)
   PUBMED   31690811
  REMARK    GeneRIF: Steady-state activation of the high-affinity isoform of
            the alpha4beta2delta GABAA receptor.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 6758)
  AUTHORS   Deak,J.D., Gizer,I.R., Otto,J.M., Bizon,C. and Wilhelmsen,K.C.
  TITLE     Effects of Common and Rare Chromosome 4 GABAergic Gene Variation on
            Alcohol Use and Antisocial Behavior
  JOURNAL   J Stud Alcohol Drugs 80 (6), 585-593 (2019)
   PUBMED   31790348
  REMARK    GeneRIF: The strongest association for alcohol use disorder
            (rs3756007) was located in GABRA2, the strongest association for
            antisocial behavior (rs11941860) was located in GABRG1, and the
            interaction term yielded top associations in GABRA2 (rs2119183) and
            the intergenic region between GABRA2 and GABRG1 (rs536599).
REFERENCE   4  (bases 1 to 6758)
  AUTHORS   Kosobud,A.E., Wetherill,L., Plawecki,M.H., Kareken,D.A., Liang,T.,
            Nurnberger,J.L., Windisch,K., Xuei,X., Edenberg,H.J., Foroud,T.M.
            and O'Connor,S.J.
  TITLE     Adaptation of Subjective Responses to Alcohol is Affected by an
            Interaction of GABRA2 Genotype and Recent Drinking
  JOURNAL   Alcohol Clin Exp Res 39 (7), 1148-1157 (2015)
   PUBMED   26087834
  REMARK    GeneRIF: rs1497577 not significantly associated with adaptation to
            subjective responses to alcohol
REFERENCE   5  (bases 1 to 6758)
  AUTHORS   Dixon,C., Sah,P., Lynch,J.W. and Keramidas,A.
  TITLE     GABAA receptor alpha and gamma subunits shape synaptic currents via
            different mechanisms
  JOURNAL   J Biol Chem 289 (9), 5399-5411 (2014)
   PUBMED   24425869
  REMARK    GeneRIF: Switching the intracellular domains of the gamma2 and
            gamma1 subunits substantiated this inference. Because this region
            determines post-synaptic localization, we hypothesize that GABAARs
            containing gamma1 and gamma2 use different mechanisms for synaptic
            clustering.
REFERENCE   6  (bases 1 to 6758)
  AUTHORS   Covault,J., Gelernter,J., Jensen,K., Anton,R. and Kranzler,H.R.
  TITLE     Markers in the 5'-region of GABRG1 associate to alcohol dependence
            and are in linkage disequilibrium with markers in the adjacent
            GABRA2 gene
  JOURNAL   Neuropsychopharmacology 33 (4), 837-848 (2008)
   PUBMED   17507911
  REMARK    GeneRIF: Logistic regression analysis indicated that genetic
            elements in the GABRG1 haplotype block likely contribute to alcohol
            dependence risk in an additive manner.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 6758)
  AUTHORS   Ma,D.Q., Whitehead,P.L., Menold,M.M., Martin,E.R.,
            Ashley-Koch,A.E., Mei,H., Ritchie,M.D., Delong,G.R., Abramson,R.K.,
            Wright,H.H., Cuccaro,M.L., Hussman,J.P., Gilbert,J.R. and
            Pericak-Vance,M.A.
  TITLE     Identification of significant association and gene-gene interaction
            of GABA receptor subunit genes in autism
  JOURNAL   Am J Hum Genet 77 (3), 377-388 (2005)
   PUBMED   16080114
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   8  (bases 1 to 6758)
  AUTHORS   Nymann-Andersen,J., Wang,H., Chen,L., Kittler,J.T., Moss,S.J. and
            Olsen,R.W.
  TITLE     Subunit specificity and interaction domain between GABA(A)
            receptor-associated protein (GABARAP) and GABA(A) receptors
  JOURNAL   J Neurochem 80 (5), 815-823 (2002)
   PUBMED   11948245
REFERENCE   9  (bases 1 to 6758)
  AUTHORS   Bonnert,T.P., McKernan,R.M., Farrar,S., le Bourdelles,B.,
            Heavens,R.P., Smith,D.W., Hewson,L., Rigby,M.R.,
            Sirinathsinghji,D.J., Brown,N., Wafford,K.A. and Whiting,P.J.
  TITLE     theta, a novel gamma-aminobutyric acid type A receptor subunit
  JOURNAL   Proc Natl Acad Sci U S A 96 (17), 9891-9896 (1999)
   PUBMED   10449790
REFERENCE   10 (bases 1 to 6758)
  AUTHORS   Wilcox,A.S., Warrington,J.A., Gardiner,K., Berger,R., Whiting,P.,
            Altherr,M.R., Wasmuth,J.J., Patterson,D. and Sikela,J.M.
  TITLE     Human chromosomal localization of genes encoding the gamma 1 and
            gamma 2 subunits of the gamma-aminobutyric acid receptor indicates
            that members of this gene family are often clustered in the genome
  JOURNAL   Proc Natl Acad Sci U S A 89 (13), 5857-5861 (1992)
   PUBMED   1321425
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK122845.1 and AC095058.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_173536.3.
            
            Summary: The protein encoded by this gene belongs to the
            ligand-gated ionic channel family. It is an integral membrane
            protein and plays an important role in inhibiting neurotransmission
            by binding to the benzodiazepine receptor and opening an integral
            chloride channel. This gene is clustered with three other family
            members on chromosome 4. [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 :: BX648937.1, SRR1660803.87940.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145245, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000295452.5/ ENSP00000295452.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1954              AK122845.1         28-1981
            1955-6758           AC095058.3         124359-129162       c
FEATURES             Location/Qualifiers
     source          1..6758
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p12"
     gene            1..6758
                     /gene="GABRG1"
                     /note="gamma-aminobutyric acid type A receptor subunit
                     gamma1"
                     /db_xref="GeneID:2565"
                     /db_xref="HGNC:HGNC:4086"
                     /db_xref="MIM:137166"
     exon            1..245
                     /gene="GABRG1"
                     /inference="alignment:Splign:2.1.0"
     CDS             142..1539
                     /gene="GABRG1"
                     /note="gamma-1 polypeptide; gamma-aminobutyric acid type A
                     receptor gamma1 subunit; gamma-aminobutyric acid receptor
                     subunit gamma-1; GABA(A) receptor subunit gamma-1; GABA(A)
                     receptor, gamma; gamma-aminobutyric acid (GABA) A
                     receptor, gamma 1; GABAAR subunit gamma-1"
                     /codon_start=1
                     /product="gamma-aminobutyric acid receptor subunit gamma-1
                     precursor"
                     /protein_id="NP_775807.2"
                     /db_xref="CCDS:CCDS3470.1"
                     /db_xref="GeneID:2565"
                     /db_xref="HGNC:HGNC:4086"
                     /db_xref="MIM:137166"
                     /translation="MGPLKAFLFSPFLLRSQSRGVRLVFLLLTLHLGNCVDKADDEDD
                     EDLTVNKTWVLAPKIHEGDITQILNSLLQGYDNKLRPDIGVRPTVIETDVYVNSIGPV
                     DPINMEYTIDIIFAQTWFDSRLKFNSTMKVLMLNSNMVGKIWIPDTFFRNSRKSDAHW
                     ITTPNRLLRIWNDGRVLYTLRLTINAECYLQLHNFPMDEHSCPLEFSSYGYPKNEIEY
                     KWKKPSVEVADPKYWRLYQFAFVGLRNSTEITHTISGDYVIMTIFFDLSRRMGYFTIQ
                     TYIPCILTVVLSWVSFWINKDAVPARTSLGITTVLTMTTLSTIARKSLPKVSYVTAMD
                     LFVSVCFIFVFAALMEYGTLHYFTSNQKGKTATKDRKLKNKASMTPGLHPGSTLIPMN
                     NISVPQEDDYGYQCLEGKDCASFFCCFEDCRTGSWREGRIHIRIAKIDSYSRIFFPTA
                     FALFNLVYWVGYLYL"
     exon            246..394
                     /gene="GABRG1"
                     /inference="alignment:Splign:2.1.0"
     exon            395..462
                     /gene="GABRG1"
                     /inference="alignment:Splign:2.1.0"
     exon            463..683
                     /gene="GABRG1"
                     /inference="alignment:Splign:2.1.0"
     exon            684..766
                     /gene="GABRG1"
                     /inference="alignment:Splign:2.1.0"
     exon            767..904
                     /gene="GABRG1"
                     /inference="alignment:Splign:2.1.0"
     exon            905..1057
                     /gene="GABRG1"
                     /inference="alignment:Splign:2.1.0"
     exon            1058..1272
                     /gene="GABRG1"
                     /inference="alignment:Splign:2.1.0"
     exon            1273..6758
                     /gene="GABRG1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      6735..6740
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GABRG1"
                     /note="hexamer: AATAAA"
     polyA_site      6758
                     /gene="GABRG1"
                     /note="major polyA site"
ORIGIN      
        1 gagtcgcatc ctacctgttt gggaggtgca ctgcctttcc acactctccc ttctgtactc
       61 agccagctgc tgctgaggtg ggaggaaaag tcctggctgg gagaattgag ctagtgcagc
      121 acacgtaaaa aagcgattcc gatgggtcct ttgaaagctt ttctcttctc cccttttctt
      181 ctgcggagtc aaagtagagg ggtgaggttg gtcttcttgt tactgaccct gcatttggga
      241 aactgtgttg ataaggcaga tgatgaagat gatgaggatt taacggtgaa caaaacctgg
      301 gtcttggccc caaaaattca tgaaggagat atcacacaaa ttctgaattc attgcttcaa
      361 ggctatgaca ataaacttcg tccagatata ggagtgaggc ccacagtaat tgaaactgat
      421 gtttatgtaa acagcattgg accagttgat ccaattaata tggaatatac aatagatata
      481 atttttgccc aaacctggtt tgacagtcgt ttaaaattca atagtaccat gaaagtgctt
      541 atgcttaaca gtaatatggt tggaaaaatt tggattcctg acactttctt cagaaactca
      601 agaaaatctg atgctcactg gataacaact cctaatcgtc tgcttcgaat ttggaatgat
      661 ggacgagttc tgtatactct aagattgaca attaatgcag aatgttatct tcagcttcat
      721 aactttccca tggatgaaca ttcctgtcca ctggaatttt caagctatgg ataccctaaa
      781 aatgaaattg agtataagtg gaaaaagccc tccgtagaag tggctgatcc taaatactgg
      841 agattatatc agtttgcatt tgtagggtta cggaactcaa ctgaaatcac tcacacgatc
      901 tctggggatt atgttatcat gacaattttt tttgacctga gcagaagaat gggatatttc
      961 actattcaga cctacattcc atgcattctg acagttgttc tttcttgggt gtctttttgg
     1021 atcaataaag atgcagtgcc tgcaagaaca tcgttgggta tcactacagt tctgactatg
     1081 acaaccctga gtacaattgc caggaagtct ttacctaagg tttcttatgt gactgcgatg
     1141 gatctctttg tttctgtttg tttcattttt gtttttgcag ccttgatgga atatggaacc
     1201 ttgcattatt ttaccagcaa ccaaaaagga aagactgcta ctaaagacag aaagctaaaa
     1261 aataaagcct cgatgactcc tggtctccat cctggatcca ctctgattcc aatgaataat
     1321 atttctgtgc cgcaagaaga tgattatggg tatcagtgtt tggagggcaa agattgtgcc
     1381 agcttcttct gttgctttga agactgcaga acaggatctt ggagggaagg aaggatacac
     1441 atacgcattg ccaaaattga ctcttattct agaatatttt tcccaaccgc ttttgccctg
     1501 ttcaacttgg tttattgggt tggctatctt tacttataaa atctacttca taagcaaaaa
     1561 tcaaaagaag tctgactaaa ttcagtagaa tcttttgtgc ttcagtaact tgaagtttaa
     1621 atttaaaatg cagagagacc aatggttaaa atgtgaatag tattgtaact attttaaggc
     1681 cttcagaagt aaataaagta gcagctttca ggctaattta cgtgaaactg attagttgca
     1741 aaatccagta ggttaaaata ctcacatatt tttacttaaa ttttctttaa tttacttata
     1801 tgttattata attttgaatt tttaagttct atgattcatg ttttaaagat ggaataattt
     1861 taatacatat tttgtttaaa tataatctat aattgttttg taatgtaaga ctaattacta
     1921 atatttatgt agcaactttt gtgccagaaa aaagactgtt aatttgtttt ttcttgcttt
     1981 tcatttgatt accctgcttg aaatacagtt agttgataac ataaagccat agttttcttg
     2041 gattttcttc caagatattg tattcccaag aagaaattga tttattttta aactatcagt
     2101 tactgaagac ttatgaaaag gtcaattttt acctgtcttt taatccagtc cattttctga
     2161 cacaatatta aacagaacgc cagttgcatt tactttggtg atttgcaaac ttggaatgaa
     2221 gccaccagtc attttttaag aatgcaagat gaaaaaatca ggtaaaatct aaccatttta
     2281 ttctctgctt catagcattt ataatgtatg atgaggttaa cactgaaata ttaaaatctg
     2341 caaatgcaca ttaatgcaaa ttaaatgcag agagaaatga ttattttttt ctttatgttt
     2401 tatgaaagtg ttgcagtccc taaaataaaa atattgagga acattgcttg tatttactca
     2461 cgtggttaaa aaattattac ctggcaaact gagttgccgg tcatattgag gacaaaatct
     2521 taaatatgtg ctattagcat tgtttttaga ctagtaatat gcagaaaaca gttttaggcc
     2581 tgcgttacat attgcctctt ccagctccaa agttttggac cctgtcagtt ttgcaactac
     2641 attatacatt attataatat tctttttttt ttctagaaac tgggggcagc ctcaaaatca
     2701 tgttaaagag ggagttttgt tagaggcatc tttaatgaac atgaatgtga gtgctctcta
     2761 aattcttagc atctcactgg atgtaaaatc tatcagttaa tagttttaaa aatgtctctt
     2821 ttgttaagaa taaatttagg cttcaatcat tataatcctg taagtagctt gacataccaa
     2881 ttgtttataa gattcatcac ataaatttct ggagaaccac caggtttagc ttggaaataa
     2941 cctttaaaga ttgtttctgt tgccaagacc aatgaccatg atgaagagtt ttatgatcac
     3001 agcctatctt acttaaggtt tgagaggaaa cctgtcacct ctgcaattgt tactctagtt
     3061 tttaatgtta taattccgct gcgtggttag tgaatgtctg gcatgattat acacgtgtat
     3121 tggaaatatc tagtttttta aatttttaat taatttattt ataatttact gtgtgttccc
     3181 agctaactct attttttttt tcacttgctc ataaacttct ggaaaaaaat aagcatgaat
     3241 caaatggtaa tgcccaatat ccaccgacac tgcttttctt gaatgaacag ccaaactaaa
     3301 ctttggccat ctatatattc atttacagat tattcataca ttcattttaa taacattgag
     3361 tactgatgga tgttttgaaa gtgagcattc atttaaggat aaataaaaaa taaagtagta
     3421 ataaagaata aaatacttta ctaaaatatt gtatggctat tttcatgttt gaagctatag
     3481 cttactatca tgagacagtt ttgattttgg gactctttca agtgtatctg agcatgactg
     3541 tattttaaaa tacttaaaag tgcttgatat aaatagcttt tccttctgaa ccacgttcta
     3601 tgtaaaagaa aaaaaatagc tttgattttc tcactggtgt ttcattaact tggttttaaa
     3661 tgttgacaat atttacaagt ggaaataaaa tttgtaaata tatgaaagat gcctttcctt
     3721 gtatatacca tcaagcaagc actttgtttt caaagcaagt ggtattttga tcagttttat
     3781 ttaaatgtgt gatcagaaag aatggcgtac aaatcttatt atttctaaaa ataagaataa
     3841 aaaggtaaaa ctacatttag acttctttct caagaaatca aatacagctt tttttcaaag
     3901 ctgattcagt tcatttcctg ttcctctatt ccaagtataa gtttcaccac cttgagaaat
     3961 aattttttta aaaaatcttc ctctttctct ggggagttat ataataattt attgaattta
     4021 ttggaacttg attttcctgg atgctttcaa tgtttttaat gctaacatag accccaaaat
     4081 tagatataaa gaattgggaa ggatacctgg agcacaagga ataagatcat ttgtaaaaat
     4141 gtttgtttat atagacctat cctctaaata tgtgacaagg atctagaaat tctgagaggg
     4201 gaaaatgtga ttttggattt acaatgacag ggtaatattt tatttatctt cgaattccat
     4261 ggacaaaatt aggctcactt aaattaattt ttgtaaaccc aagtaagttc taaaaaaaag
     4321 taaaaaatac atagaatact tgagaattta gcagggacag ggaaaaattt cccagtaagt
     4381 ctgaagtctt gatgtaagtg ggaattagat aactaattgg aggcatttta ttttaagtta
     4441 aagacagatt tctttaataa gtttttaaaa ttgatcaact ttaaattaag cacagtaaat
     4501 gtgtataaat atgaaggcaa tcataaggat tttttcactt gtgtttccat attctggcat
     4561 tagtatatca tcataaaata gacaatgttt ttgtctcaag aacaagaata aaattgaaat
     4621 ctgcattcat gccaattcag cataaaaaag aataggctac agttctctca caccaagggc
     4681 cccatagtta taaatgtgaa attatattcc aggtcaaaat ttgtgaaaaa tacacaaaac
     4741 actttgattt tacaagagag gagctttaaa taagatgatt ttagtagatt gaaataaata
     4801 accagtattt aagtaaatgt ataacgaatg aataaataca tgcataatat tttcaaagtt
     4861 ctataccagt acctattttt actcttacaa aatttcctgt aaaaaaatac tacatttgaa
     4921 attatttcat tggttttaga actggcattg aaggtaccca gtagactctt aagcctttac
     4981 tgcttgtctc actagaaaca tttatttctg acctaccaag ttttcttcac atcatcaaat
     5041 ttattcagct tctcagtgct gtaccgtatg atggcaagac atacttggta tttccatttt
     5101 tgttggtcat tctttattgc tttttactgc taggaaggtc ttgccaggct tctatacagt
     5161 tacaaaaacc attaccaaac tttatcaagg actttccaaa tggagttttc aaatactatt
     5221 gaccacattg ctctagttaa tgtaaggtca gctctgactt tttgtgtttg catttcggaa
     5281 gtgaggtaac ctcattcaaa tatatatgca gcactttctg tgtacaaagt actgttctaa
     5341 atacaaaagg gaatataaag atgactttca aggaacatat aatgtagtca gaaagatgag
     5401 aggattagtt atacaattta aggaagggag gataactttg ggaaggtttt gtggaggata
     5461 tgtgtttaga gatgcgagct ggggattcaa caggtaagag ggagagagat cacaatttcc
     5521 aactgggtaa acagcttgaa aaaagaaaca gaagcctggg cacaaatgaa aattccatat
     5581 taattggaag ttaagattca tatagagaca atgaaaggtt aggttagaac aataaactga
     5641 gaagtacgaa tgtggacttc aggaggctag gggaaattac gaagtcataa aaagttcaca
     5701 gagatacttg agtacaaaag atacattatt aaaatttctg cagaagtttc atcttatttg
     5761 tgtgtgatgg tttggaatat aacaagccag ttaggcgtat aagcttatag tggctaatat
     5821 gaggatgaaa tccgtactct tgtgacacaa gtcttcagcg gagatggggg atgataggcc
     5881 caaatagaaa gaaaagtggc agacattaag ctttgactaa cagacaacat aactgagaga
     5941 catggtgtgt tgggtggaag ggatcctgta gtagatactt gcttgcatgt agatgggtac
     6001 aaagacacca taaggaaatt ctgaatgtaa tacaaaggct tatttttcct gttgatttat
     6061 ctttttcaca cataaaagat gaagaaaaaa ataatctgaa atgtaaatcc taaagtgatc
     6121 tgtctagatt cttatttttt gaaaaatgtt cctcactaaa agagttttct attcaaataa
     6181 ccatttccag ttttctaact gagacataca tacatatata tatgtataaa attatatata
     6241 tatttggaca aagagaataa gagaattgca ggtagaaata gtctactgtg tgtagacaaa
     6301 tccagaaagt tgatttctgt tcctcaaaca atttctgaaa tatttatgtc agaataaata
     6361 aaagaattgt tattgttgga caatgaaaca tacctggacc ctttgagtgt gtgaatagta
     6421 aaggctgtga taactgaaat gcagctaagc aaaaagggct aattagaaga cttttgagac
     6481 atgatttacc taaatggaaa tagtttggtt ttcaatcctt cactgtaata acaattattt
     6541 gcatctatta agtgtttgta gtcactttgt ataataaagt tttatggctt gtgattataa
     6601 tggcttctgt tattctgcta ctgcctcatt gttttgagga acatttgtaa ttttgtggca
     6661 aaggtgtctc aatttttcag tgttctttac tctcatgatc cttagaacaa aaaaaatacc
     6721 agtaacttgt tataaataaa gagtcacatt ctcttaaa
//
