LOCUS       NM_182978               6227 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens G protein subunit alpha L (GNAL), transcript variant
            1, mRNA.
ACCESSION   NM_182978
VERSION     NM_182978.4
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 6227)
  AUTHORS   Sarva,H., Trosch,R., Kiss,Z.H.T., Furtado,S., Luciano,M.S.,
            Glickman,A., Raymond,D., Ozelius,L.J., Bressman,S.B. and
            Saunders-Pullman,R.
  TITLE     Deep Brain Stimulation in Isolated Dystonia With a GNAL Mutation
  JOURNAL   Mov Disord 34 (2), 301-303 (2019)
   PUBMED   30536916
  REMARK    GeneRIF: cases extend and support prior limited literature that
            suggested that cervical dystonia from GNAL mutations may
            significantly improve with GPi deep brain stimulation
REFERENCE   2  (bases 1 to 6227)
  AUTHORS   Putzel,G.G., Fuchs,T., Battistella,G., Rubien-Thomas,E.,
            Frucht,S.J., Blitzer,A., Ozelius,L.J. and Simonyan,K.
  TITLE     GNAL mutation in isolated laryngeal dystonia
  JOURNAL   Mov Disord 31 (5), 750-755 (2016)
   PUBMED   27093447
  REMARK    GeneRIF: GNAL mutation may represent one of the rare causative
            genetic factors of isolated laryngeal dystonia.
REFERENCE   3  (bases 1 to 6227)
  AUTHORS   Dos Santos,C.O., Masuho,I., da Silva-Junior,F.P., Barbosa,E.R.,
            Silva,S.M., Borges,V., Ferraz,H.B., Rocha,M.S., Limongi,J.C.,
            Martemyanov,K.A. and de Carvalho Aguiar,P.
  TITLE     Screening of GNAL variants in Brazilian patients with isolated
            dystonia reveals a novel mutation with partial loss of function
  JOURNAL   J Neurol 263 (4), 665-668 (2016)
   PUBMED   26810727
  REMARK    GeneRIF: GNAL mutations are not a common cause of dystonia in the
            Brazilian population
REFERENCE   4  (bases 1 to 6227)
  AUTHORS   Carecchio,M., Panteghini,C., Reale,C., Barzaghi,C., Monti,V.,
            Romito,L., Sasanelli,F. and Garavaglia,B.
  TITLE     Novel GNAL mutation with intra-familial clinical heterogeneity:
            Expanding the phenotype
  JOURNAL   Parkinsonism Relat Disord 23, 66-71 (2016)
   PUBMED   26725140
  REMARK    GeneRIF: We report a novel GNAL mutation in Italian family with
            adult-onset, dominantly-inherited dystonia
REFERENCE   5  (bases 1 to 6227)
  AUTHORS   Vuoristo,J.T., Berrettini,W.H., Overhauser,J., Prockop,D.J.,
            Ferraro,T.N. and Ala-Kokko,L.
  TITLE     Sequence and genomic organization of the human G-protein Golfalpha
            gene (GNAL) on chromosome 18p11, a susceptibility region for
            bipolar disorder and schizophrenia
  JOURNAL   Mol Psychiatry 5 (5), 495-501 (2000)
   PUBMED   11032382
REFERENCE   6  (bases 1 to 6227)
  AUTHORS   Kleuss,C., Raw,A.S., Lee,E., Sprang,S.R. and Gilman,A.G.
  TITLE     Mechanism of GTP hydrolysis by G-protein alpha subunits
  JOURNAL   Proc Natl Acad Sci U S A 91 (21), 9828-9831 (1994)
   PUBMED   7937899
REFERENCE   7  (bases 1 to 6227)
  AUTHORS   Zigman,J.M., Westermark,G.T., LaMendola,J., Boel,E. and
            Steiner,D.F.
  TITLE     Human G(olf) alpha: complementary deoxyribonucleic acid structure
            and expression in pancreatic islets and other tissues outside the
            olfactory neuroepithelium and central nervous system
  JOURNAL   Endocrinology 133 (6), 2508-2514 (1993)
   PUBMED   8243272
REFERENCE   8  (bases 1 to 6227)
  AUTHORS   Deutschlander,A.B. and Wszolek,Z.K.
  TITLE     DYT-GNAL
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30605297
REFERENCE   9  (bases 1 to 6227)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
REFERENCE   10 (bases 1 to 6227)
  AUTHORS   Wilkie,T.M., Gilbert,D.J., Olsen,A.S., Chen,X.N., Amatruda,T.T.,
            Korenberg,J.R., Trask,B.J., de Jong,P., Reed,R.R., Simon,M.I. et
            al.
  TITLE     Evolution of the mammalian G protein alpha subunit multigene family
  JOURNAL   Nat Genet 1 (2), 85-91 (1992)
   PUBMED   1302014
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001120.5, BC050021.1,
            AP001269.4 and CB241142.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_182978.3.
            
            Summary: This gene encodes a stimulatory G protein alpha subunit
            which mediates odorant signaling in the olfactory epithelium. This
            protein couples dopamine type 1 receptors and adenosine A2A
            receptors and is widely expressed in the central nervous system.
            Mutations in this gene have been associated with dystonia 25 and
            this gene is located in a susceptibility region for bipolar
            disorder and schizophrenia. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Dec 2013].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            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 :: SRR1660805.18689.1,
                                           SRR1803614.197636.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000334049.11/ ENSP00000334051.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-543               AP001120.5         82150-82692
            544-2058            BC050021.1         544-2058
            2059-5792           AP001269.4         16812-20545
            5793-6227           CB241142.1         16-450              c
FEATURES             Location/Qualifiers
     source          1..6227
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.21"
     gene            1..6227
                     /gene="GNAL"
                     /gene_synonym="DYT25; HG1O"
                     /note="G protein subunit alpha L"
                     /db_xref="GeneID:2774"
                     /db_xref="HGNC:HGNC:4388"
                     /db_xref="MIM:139312"
     exon            1..676
                     /gene="GNAL"
                     /gene_synonym="DYT25; HG1O"
                     /inference="alignment:Splign:2.1.0"
     CDS             301..1677
                     /gene="GNAL"
                     /gene_synonym="DYT25; HG1O"
                     /note="isoform 1 is encoded by transcript variant 1;
                     guanine nucleotide-binding protein G(olf) subunit alpha;
                     guanine nucleotide binding protein (G protein), alpha
                     activating activity polypeptide, olfactory type; guanine
                     nucleotide binding protein (G protein), alpha stimulating
                     activity polypeptide, olfactory type; adenylate
                     cyclase-stimulating G alpha protein, olfactory type;
                     heterotrimeric guanine nucleotide-binding protein 1O"
                     /codon_start=1
                     /product="guanine nucleotide-binding protein G(olf)
                     subunit alpha isoform 1"
                     /protein_id="NP_892023.1"
                     /db_xref="CCDS:CCDS11851.1"
                     /db_xref="GeneID:2774"
                     /db_xref="HGNC:HGNC:4388"
                     /db_xref="MIM:139312"
                     /translation="MGLCYSLRPLLFGGPGDDPCAASEPPVEDAQPAPAPALAPVRAA
                     ARDTARTLLPRGGEGSPACARPKADKPKEKRQRTEQLSAEEREAAKEREAVKEARKVS
                     RGIDRMLRDQKRDLQQTHRLLLLGAGESGKSTIVKQMRILHVNGFNPEEKKQKILDIR
                     KNVKDAIVTIVSAMSTIIPPVPLANPENQFRSDYIKSIAPITDFEYSQEFFDHVKKLW
                     DDEGVKACFERSNEYQLIDCAQYFLERIDSVSLVDYTPTDQDLLRCRVLTSGIFETRF
                     QVDKVNFHMFDVGGQRDERRKWIQCFNDVTAIIYVAACSSYNMVIREDNNTNRLRESL
                     DLFESIWNNRWLRTISIILFLNKQDMLAEKVLAGKSKIEDYFPEYANYTVPEDATPDA
                     GEDPKVTRAKFFIRDLFLRISTATGDGKHYCYPHFTCAVDTENIRRVFNDCRDIIQRM
                     HLKQYELL"
     exon            677..749
                     /gene="GNAL"
                     /gene_synonym="DYT25; HG1O"
                     /inference="alignment:Splign:2.1.0"
     exon            750..804
                     /gene="GNAL"
                     /gene_synonym="DYT25; HG1O"
                     /inference="alignment:Splign:2.1.0"
     exon            805..924
                     /gene="GNAL"
                     /gene_synonym="DYT25; HG1O"
                     /inference="alignment:Splign:2.1.0"
     exon            925..1022
                     /gene="GNAL"
                     /gene_synonym="DYT25; HG1O"
                     /inference="alignment:Splign:2.1.0"
     exon            1023..1077
                     /gene="GNAL"
                     /gene_synonym="DYT25; HG1O"
                     /inference="alignment:Splign:2.1.0"
     exon            1078..1151
                     /gene="GNAL"
                     /gene_synonym="DYT25; HG1O"
                     /inference="alignment:Splign:2.1.0"
     exon            1152..1210
                     /gene="GNAL"
                     /gene_synonym="DYT25; HG1O"
                     /inference="alignment:Splign:2.1.0"
     exon            1211..1331
                     /gene="GNAL"
                     /gene_synonym="DYT25; HG1O"
                     /inference="alignment:Splign:2.1.0"
     exon            1332..1462
                     /gene="GNAL"
                     /gene_synonym="DYT25; HG1O"
                     /inference="alignment:Splign:2.1.0"
     exon            1463..1530
                     /gene="GNAL"
                     /gene_synonym="DYT25; HG1O"
                     /inference="alignment:Splign:2.1.0"
     exon            1531..6227
                     /gene="GNAL"
                     /gene_synonym="DYT25; HG1O"
                     /inference="alignment:Splign:2.1.0"
     regulatory      6200..6205
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNAL"
                     /gene_synonym="DYT25; HG1O"
                     /note="hexamer: AATAAA"
     polyA_site      6227
                     /gene="GNAL"
                     /gene_synonym="DYT25; HG1O"
                     /note="major polyA site"
ORIGIN      
        1 gtcggttcgg tccgctctgg gcgttagcaa gtgatctcca gccaaggcgg ccgccacccc
       61 ttgcacacag cagaaaatgc aaaatgaccc tctggggcag tgaggggctg tggccctcgg
      121 ccccggcctg ccgcaccccc ttcccgcagc tggcggccgg cagcgccgaa cagggtccgg
      181 gtgcagcccc ctcccgcccc tccgctgagg cgccggcctg aactgggcgc gggaaccagg
      241 ccgccctcgg cgcccagcct gccctagtcc cgcgcgccgc ccccgctgtg ccgcgcccac
      301 atgggtctgt gctacagtct gcggccgctg cttttcgggg gcccagggga cgacccctgc
      361 gcggcctcgg agccgccggt ggaggacgcg cagcccgccc cggccccggc cctggcccca
      421 gtccgggcgg ccgcaaggga cacggcccgg accctgctcc ctcggggcgg cgaagggagc
      481 ccggcatgcg ctcggcccaa agcagacaag ccgaaggaga agcggcagcg caccgagcag
      541 ctgagtgccg aggagcgcga ggcggccaag gagcgcgagg cggtcaagga ggcgaggaaa
      601 gtgagccggg gcatcgaccg catgctgcgc gaccagaagc gcgacctgca gcagacgcac
      661 cggctcctgc tgctcggggc tggtgagtct gggaaaagca ctatcgtcaa acagatgagg
      721 atcctgcacg tcaatgggtt taatcccgag gaaaagaaac agaaaattct ggacatccgg
      781 aaaaatgtta aagatgctat cgtgacaatt gtttcagcaa tgagtactat aatacctcca
      841 gttccgctgg ccaaccctga aaaccaattt cgatcagact acatcaagag catagcccct
      901 atcactgact ttgaatattc ccaggaattc tttgaccatg tgaaaaaact ttgggacgat
      961 gaaggcgtga aggcatgctt tgagagatcc aacgaatacc agctgattga ctgtgcacaa
     1021 tacttcctgg aaagaatcga cagcgtcagc ttggttgact acacacccac agaccaggac
     1081 ctcctcagat gcagagttct gacatctggg atttttgaga cacgattcca agtggacaaa
     1141 gtaaacttcc acatgtttga tgttggtggc cagagggatg agaggagaaa atggatccag
     1201 tgctttaacg atgtcacagc tatcatttac gtcgcagcct gcagtagcta caacatggtg
     1261 attcgagaag ataacaacac caacaggctg agagagtccc tggatctttt tgaaagcatc
     1321 tggaacaaca ggtggttacg gaccatttct atcatcttgt tcttgaacaa acaagatatg
     1381 ctggcagaaa aagtcttggc agggaaatca aaaattgaag actatttccc agaatatgca
     1441 aattatactg ttcctgaaga cgcaacacca gatgcaggag aagatcccaa agttacaaga
     1501 gccaagttct ttatccggga cctgtttttg aggatcagca cggccaccgg tgacggcaaa
     1561 cattactgct acccgcactt cacctgcgcc gtggacacag agaacatccg cagggtgttc
     1621 aacgactgcc gcgacatcat ccagcggatg cacctcaagc agtatgagct cttgtgagga
     1681 tgctgccgcc accctgcgac ggagcggcgc cccggactgc ctgactgcca gccccatgcc
     1741 atggtaggag gcagagtctc tagttccatc tcgctgccgt ctgtcccgtt ctgtgtcgac
     1801 caccaagcct ctggctacct ctgtcccctc aggtttggtt gtgtagcttc tgttgtcatt
     1861 gaatacggcc tcccgcagca tcccaccccc aaaccaccga ctctcattgc cgacactgca
     1921 gcagaatctc tccgggtggg agccccatta ttcattctcc ctttattgat tcatcgagga
     1981 gaacttggta gatggggaga aaacacagtt ggtttttttt tccacgttat caaccgtgac
     2041 tgcaagagcg ttcgtgcagt gccctgagcc acggccgtct ctgattctcc ctttatgaag
     2101 ctgcaggctg acgagagatg gtcccttccc attggcctta gcccaagact tggagtcgac
     2161 cccaagcgac agagtgacca gaaacccttt tacagtcaca ttcagagtcg ctgctggcct
     2221 caggcatttg aattagagct actttgagcc tcttaggcag aaaacctacc acattcacta
     2281 ctgcaaaatg tgtcctgtct aaaaatgatt ctctaaactt tccctatact taggcatagt
     2341 cttctttctt agattctctt tgttgttgtc cctattgctg gtttattaca ctgtacagac
     2401 cacaaaatgt aatattcttt tgtataacta ctaaagaaaa atccttgtag atctttgtgc
     2461 cttcaccatg gctatctata cctgtacatg aaatgtgttt gtattgtgct gaagagctta
     2521 atgtcaacat tacctgctgc ttactctgaa aaaaggaatg aatggtagct gtagaattta
     2581 ggatatttta tcaggttggc actttataaa atactccctg atttaaaaaa ttgtaagtta
     2641 tacacgttaa tcatccacat tctatcgaca atgtaccaac atcacaagct gttgcaacca
     2701 cctgctgtta cttctctgag ctgtaaaaac ctgaactcaa ttcaggggta caaattgcaa
     2761 tctaatcttt tcagggaacc agggattttt ttctctctct ctagacaata tgtttcctca
     2821 ttagtctgct aatgaaacac ttcttcaagt tccccaagtg ggaacaggtc catcattccc
     2881 ttagtcaaaa ctttggacac aggctacgtc atacaagtaa gcaaacagta agagaaaaac
     2941 aaaatgtggc caggcgcggt ggctcacgcc tgtaatccca gcactttggg aggccgaggc
     3001 aggcggatca cgaggccagg agatcaagac catcctggct aacatggcga aaccctgtct
     3061 ctaccaaaaa tacaaaaatt agccaggcgt ggtggcgggc acctgtaatc tcagctactc
     3121 gagaggctga ggcaggagaa tctcttgaac ctgggaggtg gagattgcag tgagccgagg
     3181 tcgtgccatc gcactccagc ctggacatca aagtgagact caggccaaaa aaaaaaaaaa
     3241 aaaaaacctt gacgtgtcaa tgtttgtgtc tggcctagga gaatgaggat gacagcttca
     3301 cttgcctttt gaagaagaaa cattacaaaa ccttaatctg aagtataaag tcaaaagata
     3361 cggctctttc tcacacttgc aagacttaca aatacagcct caaacattat gacacaccaa
     3421 caatatctag aaagtaagaa ctggtgtagc aatgatgctt catattctag ctgtagccac
     3481 agagttgagg gtagtttttg taggtctaaa ataataatct ataaagatgt ccaaagttaa
     3541 attttcaaca atacaaatct agagaagtga cagcctacat tacttcatta ttactcttct
     3601 tttagtcttt agtctttaat attttaaagt ttactctata aatcagcatt ttgtaatcct
     3661 ttataaactc atccagattt aaatgctact ttttcatgaa gaaaggataa ctttatagac
     3721 agtcagtgca acacacacat tttatctcat caccgtctta ctgcctcccc atccactgtc
     3781 tcataaagcc ctcagctgaa ctaagataaa taatacaatg gaaattattt tcagttcccc
     3841 ttgcactgtc aaagtaaaac aagaaaactg aaaagctgca cccccagcaa gaaagggaag
     3901 tatgctgttg tatgcatcat tactcaacaa ttaccctcta actaaacatc ctgtttaaga
     3961 gtttaattca aacaacagcc agactgttaa gaaaaaaaac aaaaagaata acttttatct
     4021 ggcttacaat tattaaagca tttattttca ggtaccaaaa gccatatccc attccacttt
     4081 ttaagtttct tttgatcact gacaggcatt aacagatgta gcaacgtggt ctcctataga
     4141 gaaaattaca cttatctaaa aatctgattc cattaattga tcaagtataa aaatctacga
     4201 aaacaatatg ttctgcacat cacatctgta cttttttttt tttaaatata ttttttgaga
     4261 cggagtctca ctctgttgcc caggctggag tgcagtggca tgatcttggc tcactgcaac
     4321 ctccgcctcc cgggctcaag ggattctcct gcctcagcct cagctggtat tataggcact
     4381 tgctaccatg cttggctaat ttttgtattt ctagcggaga cgaggtttca ccatgttggc
     4441 caggctggtc ttgaactcct gacctcaagt gatccacccg cctcagcctc ccaaagtgct
     4501 gggattacag gtgtgagcca ctgtgcccgg ccacatctgt acttttaagg gtacagcttt
     4561 acagtacata ggaatttgag aaccacttca caggaagagg gaaacagccc aatatttatt
     4621 tatgtataca cataatccca agtgtgtgct ggggccacca ggcccttcct gggggaacaa
     4681 ggactgtcgt gcatgtgagt gacgacatta atagcattta catactgtac agatgcaacc
     4741 tttgatgata catatatttg ataaaaatga gaaaacagat ttgttgtaga gtacctgtcc
     4801 acttttatag catgagaaca gtacaatcaa ctatttattt tgcagttact catttcagtg
     4861 attgagaatt tctgtgctgt gcagagagac ggcctgtaat tggtctcatc atccacttga
     4921 ttctaacatg atctctgccc aaagttccat ttcttgggct ttgatattta taatggcgcc
     4981 tgctcttcat cttgtcttac gctttccgag caagttcaaa ccagaaagaa aaggtgaggc
     5041 tagaagccca aagtgagtga gtgtgaggac cacaaggaag cccaccactc cacagtagat
     5101 gatcaaaacc acatcctcac gtgggaggta gcacttggag agggtgtagt ctgtgggcgt
     5161 gatgctaccc tggaaaggag aagggaaagt tatgctgaga gcaccaggca cacgttgaac
     5221 accgcagtct tagaaacagc agagggaaga ctgccttctc aggtccccct caggtgaggc
     5281 agggaacggg ccctcctcac ctgagaccaa gggggcccag ccttctccct gcacagctca
     5341 cccccgacca gcccaggctc cagcaggaga gacaagtaag gcccaagtgt gcctgagtgg
     5401 aaaatgtctg ggacactgac ctgtcaaaac tggcccctgg ctcactgggt tcccatcaaa
     5461 tatagtgggg gatccataac agagattcag agaggcaccg tggagttcca gggtcatcgg
     5521 tcagcgagga acaaggaggg aaaggtgtct tcctgcccct tgatgctcaa ctaagcatct
     5581 gttccctaga aatacatgtg tccaggtcgt ctccatgggc ttttctttgc agatactttt
     5641 atgtggaaca acagtggcaa atgttttcat ttactttgaa tttgaaaatg ttagggtttc
     5701 ctccaccttt ttatgaagta aaagaacctg tcgtaccagc atcatgagct ggatgcagga
     5761 gcccatggct gaaaggagtt aaaacgccca gtggtcatta agtgaaacat cttttatcaa
     5821 cctgcaaaag ctgcagcgtt ctctgccagg tcaaatgggc atgtttagaa aataagagaa
     5881 gatggctgag tatagctaat gaataaatgg ttgtttcttt agaaaattaa acacacacag
     5941 agtgtaagag gagaggatac ggccctccct gaaggataaa gtccacctgg acggtgccct
     6001 gccctcgctt ctcacattaa ctgcccagga atgtcatgct gattggttcc cggaagggtg
     6061 tttggcaagg ggcagtgtat ggagctacgt gtagaaggag agaaatttgt gtgtggcttt
     6121 tgtaaatttt gaccgattgc agcaattaaa tagttgatta ctgtgttgat ttaaatactt
     6181 atgaaagctt tcagacaaaa ataaactttc acgttaccat gatgaaa
//
