LOCUS       NM_000814               5767 bp    mRNA    linear   PRI 23-JUL-2024
DEFINITION  Homo sapiens gamma-aminobutyric acid type A receptor subunit beta3
            (GABRB3), transcript variant 1, mRNA.
ACCESSION   NM_000814
VERSION     NM_000814.6
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 5767)
  AUTHORS   Bundy,J., Shaw,J., Hammel,M., Nguyen,J., Robbins,C., Mercier,I. and
            Suryanarayanan,A.
  TITLE     Role of beta3 subunit of the GABA type A receptor in triple
            negative breast cancer proliferation, migration, and cell cycle
            progression
  JOURNAL   Cell Cycle 23 (4), 448-465 (2024)
   PUBMED   38623967
  REMARK    GeneRIF: Role of beta3 subunit of the GABA type A receptor in
            triple negative breast cancer proliferation, migration, and cell
            cycle progression.
REFERENCE   2  (bases 1 to 5767)
  AUTHORS   Chen,J.Y., Chang,C.F., Huang,S.P., Huang,C.Y., Yu,C.C., Lin,V.C.,
            Geng,J.H., Li,C.Y., Lu,T.L. and Bao,B.Y.
  TITLE     Integrated analysis identifies GABRB3 as a biomarker in prostate
            cancer
  JOURNAL   BMC Med Genomics 17 (1), 41 (2024)
   PUBMED   38287309
  REMARK    GeneRIF: Integrated analysis identifies GABRB3 as a biomarker in
            prostate cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5767)
  AUTHORS   Lin,S.X.N., Ahring,P.K., Keramidas,A., Liao,V.W.Y., Moller,R.S.,
            Chebib,M. and Absalom,N.L.
  TITLE     Correlations of receptor desensitization of gain-of-function GABRB3
            variants with clinical severity
  JOURNAL   Brain 147 (1), 224-239 (2024)
   PUBMED   37647766
  REMARK    GeneRIF: Correlations of receptor desensitization of
            gain-of-function GABRB3 variants with clinical severity.
REFERENCE   4  (bases 1 to 5767)
  AUTHORS   Coskunpinar,E.M., Tur,S., Cevher Binici,N. and Yazan Songur,C.
  TITLE     Association of GABRG3, GABRB3, HTR2A gene variants with autism
            spectrum disorder
  JOURNAL   Gene 870, 147399 (2023)
   PUBMED   37019319
  REMARK    GeneRIF: Association of GABRG3, GABRB3, HTR2A gene variants with
            autism spectrum disorder.
REFERENCE   5  (bases 1 to 5767)
  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   6  (bases 1 to 5767)
  AUTHORS   Knoll,J.H., Cheng,S.D. and Lalande,M.
  TITLE     Allele specificity of DNA replication timing in the
            Angelman/Prader-Willi syndrome imprinted chromosomal region
  JOURNAL   Nat Genet 6 (1), 41-46 (1994)
   PUBMED   8136833
REFERENCE   7  (bases 1 to 5767)
  AUTHORS   Kirkness,E.F. and Fraser,C.M.
  TITLE     A strong promoter element is located between alternative exons of a
            gene encoding the human gamma-aminobutyric acid-type A receptor
            beta 3 subunit (GABRB3)
  JOURNAL   J Biol Chem 268 (6), 4420-4428 (1993)
   PUBMED   8382702
REFERENCE   8  (bases 1 to 5767)
  AUTHORS   Saitoh,S., Kubota,T., Ohta,T., Jinno,Y., Niikawa,N., Sugimoto,T.,
            Wagstaff,J. and Lalande,M.
  TITLE     Familial Angelman syndrome caused by imprinted submicroscopic
            deletion encompassing GABAA receptor beta 3-subunit gene
  JOURNAL   Lancet 339 (8789), 366-367 (1992)
   PUBMED   1346439
REFERENCE   9  (bases 1 to 5767)
  AUTHORS   Wagstaff,J., Chaillet,J.R. and Lalande,M.
  TITLE     The GABAA receptor beta 3 subunit gene: characterization of a human
            cDNA from chromosome 15q11q13 and mapping to a region of conserved
            synteny on mouse chromosome 7
  JOURNAL   Genomics 11 (4), 1071-1078 (1991)
   PUBMED   1664410
REFERENCE   10 (bases 1 to 5767)
  AUTHORS   Wagstaff,J., Knoll,J.H., Fleming,J., Kirkness,E.F.,
            Martin-Gallardo,A., Greenberg,F., Graham,J.M. Jr., Menninger,J.,
            Ward,D., Venter,J.C. et al.
  TITLE     Localization of the gene encoding the GABAA receptor beta 3 subunit
            to the Angelman/Prader-Willi region of human chromosome 15
  JOURNAL   Am J Hum Genet 49 (2), 330-337 (1991)
   PUBMED   1714232
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104569.7, M82919.1 and
            AC009878.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000814.5.
            
            Summary: This gene encodes a member of the ligand-gated ionic
            channel family. The encoded protein is one the subunits of a
            multi-subunit chloride channel that serves as the receptor for
            gamma-aminobutyric acid, a major inhibitory neurotransmitter of the
            mammalian nervous system. This gene is located on the long arm of
            chromosome 15 in a cluster with two other genes encoding related
            subunits of the family. This gene may be associated with the
            pathogenesis of several disorders including Angelman syndrome,
            Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and
            autism. Alternatively spliced transcript variants encoding distinct
            isoforms have been described. [provided by RefSeq, Jul 2013].
            
            Transcript Variant: This variant (1) encodes isoform 1, which is of
            the same length as isoform 2, but has a distinct N-terminus.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on 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 :: SRR14038195.196731.1, BC010641.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000311550.10/ ENSP00000308725.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-52                AC104569.7         96842-96893         c
            53-1671             M82919.1           2-1620
            1672-5767           AC009878.9         10461-14556
FEATURES             Location/Qualifiers
     source          1..5767
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q12"
     gene            1..5767
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /note="gamma-aminobutyric acid type A receptor subunit
                     beta3"
                     /db_xref="GeneID:2562"
                     /db_xref="HGNC:HGNC:4083"
                     /db_xref="MIM:137192"
     exon            1..184
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /inference="alignment:Splign:2.1.0"
     CDS             105..1526
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; gamma-aminobutyric acid type A receptor beta3
                     subunit; gamma-aminobutyric acid A receptor beta 3;
                     GABA-alpha receptor beta-2 subunit; GABAA receptor beta-3
                     subunit; gamma-aminobutyric acid (GABA) A receptor, beta
                     3; gamma-aminobutyric acid type A receptor subunit beta 3;
                     GABAAR subunit beta-3"
                     /codon_start=1
                     /product="gamma-aminobutyric acid receptor subunit beta-3
                     isoform 1 precursor"
                     /protein_id="NP_000805.1"
                     /db_xref="CCDS:CCDS10019.1"
                     /db_xref="GeneID:2562"
                     /db_xref="HGNC:HGNC:4083"
                     /db_xref="MIM:137192"
                     /translation="MWGLAGGRLFGIFSAPVLVAVVCCAQSVNDPGNMSFVKETVDKL
                     LKGYDIRLRPDFGGPPVCVGMNIDIASIDMVSEVNMDYTLTMYFQQYWRDKRLAYSGI
                     PLNLTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAA
                     CMMDLRRYPLDEQNCTLEIESYGYTTDDIEFYWRGGDKAVTGVERIELPQFSIVEHRL
                     VSRNVVFATGAYPRLSLSFRLKRNIGYFILQTYMPSILITILSWVSFWINYDASAARV
                     ALGITTVLTMTTINTHLRETLPKIPYVKAIDMYLMGCFVFVFLALLEYAFVNYIFFGR
                     GPQRQKKLAEKTAKAKNDRSKSESNRVDAHGNILLTSLEVHNEMNEVSGGIGDTRNSA
                     ISFDNSGIQYRKQSMPREGHGRFLGDRSLPHKKTHLRRRSSQLKIKIPDLTDVNAIDR
                     WSRIVFPFTFSLFNLVYWLYYVN"
     exon            185..276
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /inference="alignment:Splign:2.1.0"
     exon            277..344
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /inference="alignment:Splign:2.1.0"
     exon            345..565
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /inference="alignment:Splign:2.1.0"
     exon            566..648
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /inference="alignment:Splign:2.1.0"
     exon            649..786
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /inference="alignment:Splign:2.1.0"
     exon            787..939
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /inference="alignment:Splign:2.1.0"
     exon            940..1184
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /inference="alignment:Splign:2.1.0"
     exon            1185..5767
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4517..4522
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /note="hexamer: AATAAA"
     polyA_site      4540
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
     regulatory      5748..5753
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /note="hexamer: ATTAAA"
     polyA_site      5767
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /note="major polyA site"
ORIGIN      
        1 agcgcggcgg cggcggcggc ggcggcagca gcaggagcag ccccggctgc gggtcgcgac
       61 ggcggcgggg cgccccctcc cccgtgccgg ggcgcggcgg agggatgtgg ggccttgcgg
      121 gaggaaggct tttcggcatc ttctcggccc cggtgctggt ggctgtggtg tgctgcgccc
      181 agagtgtgaa cgatcccggg aacatgtcct ttgtgaagga gacggtggac aagctgttga
      241 aaggctacga cattcgccta agacccgact tcgggggtcc cccggtctgc gtggggatga
      301 acatcgacat cgccagcatc gacatggttt ccgaagtcaa catggattat accttaacca
      361 tgtattttca acaatattgg agagataaaa ggctcgccta ttctgggatc cctctcaacc
      421 tcacgcttga caatcgagtg gctgaccagc tatgggtgcc cgacacatat ttcttaaatg
      481 acaaaaagtc atttgtgcat ggagtgacag tgaaaaaccg catgatccgt cttcaccctg
      541 atgggacagt gctgtatggg ctcagaatca ccacgacagc agcatgcatg atggacctca
      601 ggagataccc cctggacgag cagaactgca ctctggaaat tgaaagctat ggctacacca
      661 cggatgacat tgagttttac tggcgaggcg gggacaaggc tgttaccgga gtggaaagga
      721 ttgagctccc gcagttctcc atcgtggagc accgtctggt ctcgaggaat gttgtcttcg
      781 ccacaggtgc ctatcctcga ctgtcactga gctttcggtt gaagaggaac attggatact
      841 tcattcttca gacttatatg ccctctatac tgataacgat tctgtcgtgg gtgtccttct
      901 ggatcaatta tgatgcatct gctgctagag ttgccctcgg gatcacaact gtgctgacaa
      961 tgacaaccat caacacccac cttcgggaga ccttgcccaa aatcccctat gtcaaagcca
     1021 ttgacatgta ccttatgggc tgcttcgtct ttgtgttcct ggcccttctg gagtatgcct
     1081 ttgtcaacta cattttcttt ggaagaggcc ctcaaaggca gaagaagctt gcagaaaaga
     1141 cagccaaggc aaagaatgac cgttcaaaga gcgaaagcaa ccgggtggat gctcatggaa
     1201 atattctgtt gacatcgctg gaagttcaca atgaaatgaa tgaggtctca ggcggcattg
     1261 gcgataccag gaattcagca atatcctttg acaactcagg aatccagtac aggaaacaga
     1321 gcatgcctcg agaagggcat gggcgattcc tgggggacag aagcctcccg cacaagaaga
     1381 cccatctacg gaggaggtct tcacagctca aaattaaaat acctgatcta accgatgtga
     1441 atgccataga cagatggtcc aggatcgtgt ttccattcac tttttctctt ttcaacttag
     1501 tttactggct gtactatgtt aactgagtga ctgtacttga tttttcaaag acttcattta
     1561 acactgagtg aaatattact ctgcctgtca agtttttata cctgtacaca cacagacaca
     1621 caagcagaca cacacatata tacatacgca attgtatata tatgtgaact ttctcagcat
     1681 atatataaaa tacacgtgta tatgaggatg tatgtgtata tgtttataca cacaggagtc
     1741 agtgcccatg tgtatggaag acaaatacac atacatatat acattttgca gctatggaca
     1801 atttaccaca ggatgcatat taaagaaagt catagttttt ttctttttta attgaaaggg
     1861 acaagtatca tctaaatatt atgccttgag aatgagggcg tgaaacacaa tatcatcccc
     1921 aaatgtgtct tgtattatca taagttagat gttttagttt aaaaatcaga aagacattct
     1981 tagttaatct ttgaaaactc atacagtggt attgctagtt taaaatgagt cacttacttc
     2041 atatcctctc gttcagttta gtaagcaaag gcttcttggc ttctctggtg atggggtttg
     2101 ttttcatcgg gcatacgttt tctgcaatgg tttagtggct ggggtgagcc actggcagtg
     2161 tgcttacctg ttgtctgaaa catagataga tcccacgttg atgtctgaac gaccgtcttt
     2221 tgaaaactca tcgggagtga atggcatctc gttgtaagta ctctaatata cagtgtgtag
     2281 tttgtttctg ttgttcactt ggagtggatc cagcttcact gtcatgtgcg aacacagtga
     2341 cacgtttggc cagtgacatt tcaatcactg aaaatgtgct ctacatctcg tatggatttc
     2401 taggcctgat atccaacaga aagcatagac gtctcaggtt attcgttact ctaaggtaaa
     2461 accatctagg atgattttcc cccttgcagt tatgttatca ttcttataac attgtatgtt
     2521 aatagaaaat atatttgcat aatatgcata tatatgtata tttaccaaga ttttgtttct
     2581 tacgcttgct atcatggcag catgcgatgt catattttcc tttatgtgat gtaactactt
     2641 tctgttatct agaaattaag attgaagcta aaacacttct actgttcaat ttcagaaact
     2701 aagaatcatc ctcatgcctt tatttctgta tctgacatat ttcataagca catccaacta
     2761 ctcctagact gactaggatt ctgcaggaac atgacccgta cacaccacgc gtcacccaac
     2821 gacccatgac cgttctctga ggcaaaggag ggcaacctga cagcaaacac agtcactgtt
     2881 ggttccttct gatccacagc ctcatcagta tttggacttt ttaaagctcg tagaaacaag
     2941 acaaggtgca ccggtttcat agacgcaacc ttaacttact atttagatga gatctttcta
     3001 aagaaaaaaa aaagagatga tatatttttt gtaaacaata tttctatcac aggcatccat
     3061 aaactgaaat gactacagtt gtgcaaacag gtgtcacagt gaagttgagc atttggagaa
     3121 aaaaataaaa agcaaaattt gcaggaagaa ctgctaaatt aatactttat cccaaaatgc
     3181 cacgtatgcc tcaccctctc tgttctatcc aaaaccaagg accagagtgc tccaatggta
     3241 ggccccagtt gtctcgatgt aggtagaggc accaccctcc ccgaggatgc gtgtggtgtg
     3301 gactatcccc atgagctgac cactacttga tttttctttg gtggccgtaa caacctttaa
     3361 tttgtgggca tctgcaacag ttcaaaaccc accatcagat aaaacataat ccacaaaatc
     3421 tcacgctaga ggcaattacc tacttttaga cccttttccc tctttcattc ctatcttttt
     3481 cctcctaatc gctgctctct ggttttattt tcatctggag actagccagg gatttctttg
     3541 gctttggctt ttctctgacc attttttcca tgggtaacaa tgggggatcc taaaagttaa
     3601 acagattggg aaaaaccttg ttaagtggcc ttatcattat tatcatgtta aagaaaaaaa
     3661 atacatttgc aaagacctta tccctttcaa tacttcaggt atctttttct gtatccagta
     3721 attaaaggtg tgaggtccac atgcagaaga gggaccccaa aatgtaaatg gatgtggaca
     3781 aaaacagtca atggtctatt taagtgtata atttatacta ttcagaactg tgacattaat
     3841 tctttctggg agaaaagtga tttaaaactt ttttgatgca tagttgaggt acccaaatat
     3901 caaaggcaga gaccccatgg ggctccaaag agctgcagtc tccttcccaa ggttttctgg
     3961 atataaattt gcatggtata gtcataatag cttttgagct ttttatatgc atttggcacc
     4021 aagactggga tccacaactt tgtagacact gcgatgaagt taacatatta gctatactat
     4081 aaatagtgtt tgtaactaca cacacacaca cacacacaca cacaaataca tacatatatt
     4141 ctgtaaaaac aaaaaaaaac tttttaagat ccttgggtat gtgtttgctt tactccattt
     4201 cagaagaaaa ttacttttct tctaacaaaa ttattttata gcttctccat ttttaaaact
     4261 tgtgagagca ttgagaagag aactctgact gtgttaacag aagagagttg aattggagtc
     4321 tctgttgtgt taaaatgacc tctcgttact ccacagtagt tatttgagcc agtgactgag
     4381 tcgcgttgag gaattctgaa cccggacctc tgacgttgtt gggaggtggc tgttacccac
     4441 acccagacct cttgagtaag gacagaaacg ttatcattgg ggatataatg agatttcttt
     4501 cttaacaatt gaaagtaata aagagttaat tttctcagta gtcctgtctt tccaaaatgc
     4561 gccacagggg ctcaagatct acagaagaat cttgttatga cagtttgtta ttacccatat
     4621 tcagatatcc ttgagataat ggaagagccc tgctacataa ctccctacag agaaagactg
     4681 atagacttga gtagtcctta aaacaagtgt tattcctgtt caccaacccc gggactgtgg
     4741 aggggtttca ctgtctatac catgcgacat ccatttcccc tgaatctcaa acgaactaga
     4801 aagtatgtca tgataatatt tccattagat ttggaagcta cctgtacatc tgcaatattg
     4861 tgtttttaac gccagcaccc agaactttga catgttcagt cactccctga aaggcacttc
     4921 tctcttgtcc aaacacagcg ttgacatttt tactgaggag atcatctcaa aggtgatgcc
     4981 aaacgagtct ggggctggtt ttaaggggac aggcacattg cagttgtagg tgttcatttt
     5041 cagcatctag tagataatcc attggtgttt gtcccaccat tggtgtattc taacaagaat
     5101 gtgtccaact ttgaatctcc tggcttgaaa gtataaacca tcacttaatt cttattttaa
     5161 ctctccacct gaaaaccagt tcatatttct ggccatttta tgtaagcaaa actgaacaat
     5221 tggtgaaaca ttttgttact cttggaattg actctggctg tcagtgtgag ccattagagt
     5281 aacatcgaat cttggggcaa agaactgccc aggtgaatta aatttttcca ggacactagc
     5341 tagtgtgcct tggattgatt acctcttcta ctgcattgaa aggcgccatg ttttcctgaa
     5401 atactaaatt cccaacacct gggtaaacaa tgaccttcca gagagtggct cccgtatgcc
     5461 tctccctagg accaacccca tgaacatgtt ttgtcacgtt tgtctcatgt ttctacttca
     5521 caagtcagtg agtgtgttta aggtaagtac aggattattc tagtaggaat aggcgattgc
     5581 tgtcataatc aattctcatg ttgatttcat tttattgtaa agataaattt aaacccagtt
     5641 ttgcttaagc acattgatgt aattttttgg tattatttga catgaaaaaa cagcaaaatt
     5701 gagtgataga tacaatatga aacttgttga tgaatgaatt caaatttatt aaaaaaggag
     5761 taactga
//
