LOCUS       NM_020988               3182 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens G protein subunit alpha o1 (GNAO1), transcript variant
            1, mRNA.
ACCESSION   NM_020988
VERSION     NM_020988.3
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 3182)
  AUTHORS   Ju,L., Luo,Y., Shan,J., Lu,R., Chen,L., Shao,J., Bian,Z. and Yao,M.
  TITLE     CircGNAO1 suppresses hepatocellular carcinoma progression and
            metastasis via sponging miR-182-5p and regulating FOXO1 expression
  JOURNAL   Int Immunopharmacol 140, 112873 (2024)
   PUBMED   39098231
  REMARK    GeneRIF: CircGNAO1 suppresses hepatocellular carcinoma progression
            and metastasis via sponging miR-182-5p and regulating FOXO1
            expression.
REFERENCE   2  (bases 1 to 3182)
  AUTHORS   Lasa-Aranzasti,A., Larasati,Y.A., da Silva Cardoso,J., Solis,G.P.,
            Koval,A., Cazurro-Gutierrez,A., Ortigoza-Escobar,J.D.,
            Miranda,M.C., De la Casa-Fages,B., Moreno-Galdo,A., Tizzano,E.F.,
            Gomez-Andres,D., Verdura,E., Katanaev,V.L. and Perez-Duenas,B.
  CONSRTM   Study Group of GNAO1 patients from Spain
  TITLE     Clinical and Molecular Profiling in GNAO1 Permits
            Phenotype-Genotype Correlation
  JOURNAL   Mov Disord 39 (9), 1578-1591 (2024)
   PUBMED   38881224
  REMARK    GeneRIF: Clinical and Molecular Profiling in GNAO1 Permits
            Phenotype-Genotype Correlation.
REFERENCE   3  (bases 1 to 3182)
  AUTHORS   Roy,A.J., Leipprandt,J.R., Patterson,J.R., Stoll,A.C., Kemp,C.J.,
            Oula,Z.D., Mola,T., Batista,A.R., Sortwell,C.E., Sena-Esteves,M.
            and Neubig,R.R.
  TITLE     AAV9-Mediated Intrastriatal Delivery of GNAO1 Reduces
            Hyperlocomotion in Gnao1 Heterozygous R209H Mutant Mice
  JOURNAL   J Pharmacol Exp Ther 390 (2), 250-259 (2024)
   PUBMED   38866563
  REMARK    GeneRIF: AAV9-Mediated Intrastriatal Delivery of GNAO1 Reduces
            Hyperlocomotion in Gnao1 Heterozygous R209H Mutant Mice.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3182)
  AUTHORS   Solis,G.P., Koval,A., Valnohova,J., Kazemzadeh,A., Savitsky,M. and
            Katanaev,V.L.
  TITLE     Neomorphic Galphao mutations gain interaction with Ric8 proteins in
            GNAO1 encephalopathies
  JOURNAL   J Clin Invest 134 (15), e172057 (2024)
   PUBMED   38874642
  REMARK    GeneRIF: Neomorphic Galphao mutations gain interaction with Ric8
            proteins in GNAO1 encephalopathies.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3182)
  AUTHORS   Larasati,Y.A., Solis,G.P., Koval,A., Griffiths,S.T., Berentsen,R.,
            Aukrust,I., Lesca,G., Chatron,N., Ville,D., Korff,C.M. and
            Katanaev,V.L.
  TITLE     Clinical Cases and the Molecular Profiling of a Novel Childhood
            Encephalopathy-Causing GNAO1 Mutation P170R
  JOURNAL   Cells 12 (20), 2469 (2023)
   PUBMED   37887313
  REMARK    GeneRIF: Clinical Cases and the Molecular Profiling of a Novel
            Childhood Encephalopathy-Causing GNAO1 Mutation P170R.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3182)
  AUTHORS   Briere,L., Thiel,M., Sweetser,D.A., Koy,A. and Axeen,E.
  TITLE     GNAO1-Related Disorder
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   37956232
REFERENCE   7  (bases 1 to 3182)
  AUTHORS   Berstein,G., Blank,J.L., Jhon,D.Y., Exton,J.H., Rhee,S.G. and
            Ross,E.M.
  TITLE     Phospholipase C-beta 1 is a GTPase-activating protein for Gq/11,
            its physiologic regulator
  JOURNAL   Cell 70 (3), 411-418 (1992)
   PUBMED   1322796
REFERENCE   8  (bases 1 to 3182)
  AUTHORS   Coupry,I., Duzic,E. and Lanier,S.M.
  TITLE     Factors determining the specificity of signal transduction by
            guanine nucleotide-binding protein-coupled receptors. II.
            Preferential coupling of the alpha 2C-adrenergic receptor to the
            guanine nucleotide-binding protein, Go
  JOURNAL   J Biol Chem 267 (14), 9852-9857 (1992)
   PUBMED   1349607
REFERENCE   9  (bases 1 to 3182)
  AUTHORS   Denker,B.M., Neer,E.J. and Schmidt,C.J.
  TITLE     Mutagenesis of the amino terminus of the alpha subunit of the G
            protein Go. In vitro characterization of alpha o beta gamma
            interactions
  JOURNAL   J Biol Chem 267 (9), 6272-6277 (1992)
   PUBMED   1556134
REFERENCE   10 (bases 1 to 3182)
  AUTHORS   Murtagh,J.J. Jr., Eddy,R., Shows,T.B., Moss,J. and Vaughan,M.
  TITLE     Different forms of Go alpha mRNA arise by alternative splicing of
            transcripts from a single gene on human chromosome 16
  JOURNAL   Mol Cell Biol 11 (2), 1146-1155 (1991)
   PUBMED   1899283
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK056008.1, DA529437.1,
            BC030027.2 and AC009102.10.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_020988.2.
            
            Summary: The protein encoded by this gene represents the alpha
            subunit of the Go heterotrimeric G-protein signal-transducing
            complex. Defects in this gene are a cause of early-onset epileptic
            encephalopathy. Two transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, Aug 2015].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes isoform a.
            
            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 :: SRR3476690.656273.1,
                                           SRR3476690.256248.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000262493.12/ ENSP00000262493.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 AK056008.1         100-108
            10-615              DA529437.1         12-617
            616-1147            AK056008.1         715-1246
            1148-2341           BC030027.2         334-1527
            2342-3182           AC009102.10        40046-40886         c
FEATURES             Location/Qualifiers
     source          1..3182
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q13"
     gene            1..3182
                     /gene="GNAO1"
                     /gene_synonym="DEE17; EIEE17; G-ALPHA-o; GNAO; HG1G;
                     HLA-DQB1; NEDIM"
                     /note="G protein subunit alpha o1"
                     /db_xref="GeneID:2775"
                     /db_xref="HGNC:HGNC:4389"
                     /db_xref="MIM:139311"
     exon            1..865
                     /gene="GNAO1"
                     /gene_synonym="DEE17; EIEE17; G-ALPHA-o; GNAO; HG1G;
                     HLA-DQB1; NEDIM"
                     /inference="alignment:Splign:2.1.0"
     CDS             748..1812
                     /gene="GNAO1"
                     /gene_synonym="DEE17; EIEE17; G-ALPHA-o; GNAO; HG1G;
                     HLA-DQB1; NEDIM"
                     /note="isoform a is encoded by transcript variant 1;
                     guanine nucleotide-binding protein G(o) subunit alpha;
                     guanine nucleotide binding protein (G protein), alpha
                     activating activity polypeptide O; GO2-q chimeric
                     G-protein; guanine nucleotide-binding regulatory protein
                     2; heterotrimeric guanine nucleotide-binding protein 1G"
                     /codon_start=1
                     /product="guanine nucleotide-binding protein G(o) subunit
                     alpha isoform a"
                     /protein_id="NP_066268.1"
                     /db_xref="CCDS:CCDS10756.1"
                     /db_xref="GeneID:2775"
                     /db_xref="HGNC:HGNC:4389"
                     /db_xref="MIM:139311"
                     /translation="MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGES
                     GKSTIVKQMKIIHEDGFSGEDVKQYKPVVYSNTIQSLAAIVRAMDTLGIEYGDKERKA
                     DAKMVCDVVSRMEDTEPFSAELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSL
                     DRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDVGGQRSERKKWIHCFED
                     VTAIIFCVALSGYDQVLHEDETTNRMHESLMLFDSICNNKFFIDTSIILFLNKKDLFG
                     EKIKKSPLTICFPEYTGPNTYEDAAAYIQAQFESKNRSPNKEIYCHMTCATDTNNIQV
                     VFDAVTDIIIANNLRGCGLY"
     exon            866..908
                     /gene="GNAO1"
                     /gene_synonym="DEE17; EIEE17; G-ALPHA-o; GNAO; HG1G;
                     HLA-DQB1; NEDIM"
                     /inference="alignment:Splign:2.1.0"
     exon            909..1050
                     /gene="GNAO1"
                     /gene_synonym="DEE17; EIEE17; G-ALPHA-o; GNAO; HG1G;
                     HLA-DQB1; NEDIM"
                     /inference="alignment:Splign:2.1.0"
     exon            1051..1211
                     /gene="GNAO1"
                     /gene_synonym="DEE17; EIEE17; G-ALPHA-o; GNAO; HG1G;
                     HLA-DQB1; NEDIM"
                     /inference="alignment:Splign:2.1.0"
     exon            1212..1340
                     /gene="GNAO1"
                     /gene_synonym="DEE17; EIEE17; G-ALPHA-o; GNAO; HG1G;
                     HLA-DQB1; NEDIM"
                     /inference="alignment:Splign:2.1.0"
     exon            1341..1470
                     /gene="GNAO1"
                     /gene_synonym="DEE17; EIEE17; G-ALPHA-o; GNAO; HG1G;
                     HLA-DQB1; NEDIM"
                     /inference="alignment:Splign:2.1.0"
     exon            1471..1624
                     /gene="GNAO1"
                     /gene_synonym="DEE17; EIEE17; G-ALPHA-o; GNAO; HG1G;
                     HLA-DQB1; NEDIM"
                     /inference="alignment:Splign:2.1.0"
     exon            1625..1840
                     /gene="GNAO1"
                     /gene_synonym="DEE17; EIEE17; G-ALPHA-o; GNAO; HG1G;
                     HLA-DQB1; NEDIM"
                     /inference="alignment:Splign:2.1.0"
     exon            1841..3182
                     /gene="GNAO1"
                     /gene_synonym="DEE17; EIEE17; G-ALPHA-o; GNAO; HG1G;
                     HLA-DQB1; NEDIM"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3159..3164
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNAO1"
                     /gene_synonym="DEE17; EIEE17; G-ALPHA-o; GNAO; HG1G;
                     HLA-DQB1; NEDIM"
                     /note="hexamer: AATAAA"
     polyA_site      3182
                     /gene="GNAO1"
                     /gene_synonym="DEE17; EIEE17; G-ALPHA-o; GNAO; HG1G;
                     HLA-DQB1; NEDIM"
                     /note="major polyA site"
ORIGIN      
        1 ctctctccct ctccctcgag ctcccggctg gctgcggctc cctggcgctc tccctctctc
       61 tccggtaggc tcaccgagcg atgcgagctc tgggagacag cgacgccgcc tcccgctaga
      121 gacctgcccc tcggcccggc cccctgccca accctgccca gcgcgcgggg gtcggcgaag
      181 gcgccgcgga cgcaccgacg gctgaagagc ggcgatgcac atgcactagc agcaccccct
      241 aactcactcc ctccacatcc cgcgccgccg ccgccgcctc ctccacctcc tcctccgccg
      301 ccgccgcctc ctcctcctcc ggcagccgcg gcagcaggac ccaccctgcc ccccacccca
      361 ccctctgtcg gctccggctg cggctccagc ctcgactatt attttattta ttttgggtcg
      421 tgcacaagcc tcagtgcctg cagtccgcgc ctcctcggcc cgcgggcgcc tcctcccttg
      481 gctccggagc cccagacccc ggccaccctc gattcgacaa ccccagaccc ctgccagctg
      541 ccgcgagtct ccgctgctgg aatcttgtta gcggctgtct ttttggaggg ttctggtttc
      601 ccgacatttt tgtttccagc ccaggagagg atatcgtgat tttcccccct tgagcccagg
      661 ctctgctctc tgggggggtg gggggcgctc caagccgggg agccgtgcca gccgagtcgt
      721 gcgggctgtg gcagggaagg ggccaccatg ggatgtactc tgagcgcaga ggagagagcc
      781 gccctcgagc ggagcaaggc gattgagaaa aacctcaaag aggatggcat cagcgccgcc
      841 aaagacgtga aattactcct gctcggggct ggagaatcag gaaaaagcac cattgtgaag
      901 cagatgaaga tcatccatga agatggcttc tccggagaag acgtgaaaca gtacaagcct
      961 gttgtctaca gcaacactat ccagtccctg gcagccatcg tccgggccat ggacactttg
     1021 ggcatcgaat atggtgataa ggagagaaag gctgacgcca agatggtgtg tgatgtggtg
     1081 agtcggatgg aagacaccga gcccttctct gcagagctgc tttctgccat gatgcggctc
     1141 tggggcgact caggaatcca agagtgcttc aaccggtccc gggagtatca gctcaacgac
     1201 tctgccaaat actacctgga cagcctggat cggattgggg ccgccgacta ccagcccacc
     1261 gagcaggaca tcctccgaac cagggtcaaa accactggca tcgtagaaac ccacttcaca
     1321 ttcaagaacc tccacttcag gctgtttgac gtcggaggcc agcgatctga acgcaagaag
     1381 tggatccatt gcttcgagga cgtcacggcc atcattttct gtgtcgcgct cagcggctat
     1441 gaccaggtgc tccacgaaga cgaaaccacg aaccgcatgc acgagtctct catgctcttc
     1501 gactccatct gtaacaacaa gttcttcatc gatacctcca tcattctctt cctcaacaag
     1561 aaagatctct ttggcgagaa gatcaagaag tcacctttga ccatctgctt tcctgaatac
     1621 acaggcccca atacctatga agacgcagcc gcctacatcc aagcacaatt tgaaagcaaa
     1681 aaccgctcac ccaacaaaga aatatattgt cacatgactt gtgccacaga cacgaataac
     1741 atccaggtgg tgttcgacgc cgtcaccgac atcatcattg ccaacaacct ccggggctgc
     1801 ggcttgtact gacctcttgt cctgtatagc aacctatttg actgcttcac ggactctttg
     1861 ctgttgacgt tgatctcctg gtagcatgac cttttggcct ttgtaagaca cacagccttt
     1921 ctgtatcaag cccctgtcta acctacgacc ccagagtgac tgacggctgt gtatttctgt
     1981 agaatgctgt agaatccggt tttagttgag tcttcacatt tagaatttga aaggaaaaac
     2041 agaacatttc tcatgtgctt tgtagcttaa aaaaaggaaa actcaccatt tcatccatat
     2101 ttctttttct tgcaaaacaa acatacccat ctgcaccgac gcctgccccc gtcccacctc
     2161 gcggcgcagc ccctggagct cctgctgggg ggcagggccc atctgccgcc tggggctccg
     2221 gtgcggtgca ctggtccgag gagtgtgctc aggccgggct ttccagaagg ccacaggcca
     2281 ctgcaaaccc tgctgcctgc cggccgccca gacaccacag acgccacctg gcggccctaa
     2341 gccactcccg ccacacgctc actccaggtt cgtatagaaa aagcacagct ctcactggcc
     2401 agtagctgcc aaaaagaaca cccatcgtat aaggaaatcc agccccatag aaaacaatct
     2461 gcccaccgac cccctttcta aggatagcct ttgtaggggt tttttggttc cttttttttt
     2521 tttttcagtt tttgttttta cttttgtccc gccgagtact atgtattacc agccccccac
     2581 cccacagatc agttttccta gtctttggga aacgggttgt gttttttttc ctttgccgtg
     2641 ttggatttcc ggtcccggct gacacctccc ttcgtgtgtg cgcccctccc cacccctgcc
     2701 tttgtttcgg tgccctgtgt ccgctctctc atgtggggat gtttgtgctg cagacaaaaa
     2761 gaacaaaaaa aaatttttaa ataccacaag atggaaaaaa aaaacaaaaa aatttaaaaa
     2821 gatggaatgt agtgtttaca ttaaagccgc cgttttcatg accaatccta tgtcatttct
     2881 actttgacta atacccaaac cctaaacctc ttcacggttt cacttttaag acttaatctt
     2941 tgctgaagaa gaccagtcac agccatttca aataaagagg aggcaaaaag acaaaacaca
     3001 caaaaaatta aaaaaaaaaa cttaaaaaaa aaaggaaaaa agaaaaaaaa gcccacgggt
     3061 ctttgtaagc ctttctattc ccaatcggtg aggtttctgt gatatcttac acactgccag
     3121 tctacttctc tgactaatgg aaaattcctg tgtagctcaa taaaagagaa tgtttgtctg
     3181 ta
//
