LOCUS       NM_004409               2799 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens DM1 protein kinase (DMPK), transcript variant 2, mRNA.
ACCESSION   NM_004409
VERSION     NM_004409.5
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 2799)
  AUTHORS   Pezzoli,F., Parigi,S., Moroni,M., Sacchini,M., Mancano,G.,
            Zulli,A., Morini,F., Sandini,E., Berti,E., Gabbrielli,G.,
            Serafini,L., Agostini,E., Azzara,A., Padrini,L., Cioni,M.L.,
            Ingargiola,A., Petrucci,L., Paternoster,F. and Catarzi,S.
  TITLE     Diaphragmatic hernia in a term newborn with congenital myotonic
            dystrophy: case report
  JOURNAL   Acta Biomed 94 (S1), e2023097 (2023)
   PUBMED   36883684
  REMARK    GeneRIF: Diaphragmatic hernia in a term newborn with congenital
            myotonic dystrophy: case report.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2799)
  AUTHORS   Yanovsky-Dagan,S., Cohen,E., Megalli,P., Altarescu,G.,
            Schonberger,O., Eldar-Geva,T., Epsztejn-Litman,S. and Eiges,R.
  TITLE     DMPK hypermethylation in sperm cells of myotonic dystrophy type 1
            patients
  JOURNAL   Eur J Hum Genet 30 (8), 980-983 (2022)
   PUBMED   34776509
  REMARK    GeneRIF: DMPK hypermethylation in sperm cells of myotonic dystrophy
            type 1 patients.
REFERENCE   3  (bases 1 to 2799)
  AUTHORS   Rasmussen,A., Hildonen,M., Vissing,J., Duno,M., Tumer,Z. and
            Birkedal,U.
  TITLE     High Resolution Analysis of DMPK Hypermethylation and Repeat
            Interruptions in Myotonic Dystrophy Type 1
  JOURNAL   Genes (Basel) 13 (6), 970 (2022)
   PUBMED   35741732
  REMARK    GeneRIF: High Resolution Analysis of DMPK Hypermethylation and
            Repeat Interruptions in Myotonic Dystrophy Type 1.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2799)
  AUTHORS   Potier,B., Lallemant,L., Parrot,S., Huguet-Lachon,A., Gourdon,G.,
            Dutar,P. and Gomes-Pereira,M.
  TITLE     DM1 Transgenic Mice Exhibit Abnormal Neurotransmitter Homeostasis
            and Synaptic Plasticity in Association with RNA Foci and
            Mis-Splicing in the Hippocampus
  JOURNAL   Int J Mol Sci 23 (2), 592 (2022)
   PUBMED   35054778
  REMARK    GeneRIF: DM1 Transgenic Mice Exhibit Abnormal Neurotransmitter
            Homeostasis and Synaptic Plasticity in Association with RNA Foci
            and Mis-Splicing in the Hippocampus.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2799)
  AUTHORS   Rao,A.N., Campbell,H.M., Guan,X., Word,T.A., Wehrens,X.H., Xia,Z.
            and Cooper,T.A.
  TITLE     Reversible cardiac disease features in an inducible CUG repeat
            RNA-expressing mouse model of myotonic dystrophy
  JOURNAL   JCI Insight 6 (5), 143465 (2021)
   PUBMED   33497365
  REMARK    GeneRIF: Reversible cardiac disease features in an inducible CUG
            repeat RNA-expressing mouse model of myotonic dystrophy.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2799)
  AUTHORS   Bird,T.D.
  TITLE     Myotonic Dystrophy Type 1
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301344
REFERENCE   7  (bases 1 to 2799)
  AUTHORS   Jansen,G., Mahadevan,M., Amemiya,C., Wormskamp,N., Segers,B.,
            Hendriks,W., O'Hoy,K., Baird,S., Sabourin,L., Lennon,G. et al.
  TITLE     Characterization of the myotonic dystrophy region predicts multiple
            protein isoform-encoding mRNAs
  JOURNAL   Nat Genet 1 (4), 261-266 (1992)
   PUBMED   1302022
REFERENCE   8  (bases 1 to 2799)
  AUTHORS   Tsilfidis,C., MacKenzie,A.E., Mettler,G., Barcelo,J. and
            Korneluk,R.G.
  TITLE     Correlation between CTG trinucleotide repeat length and frequency
            of severe congenital myotonic dystrophy
  JOURNAL   Nat Genet 1 (3), 192-195 (1992)
   PUBMED   1303233
REFERENCE   9  (bases 1 to 2799)
  AUTHORS   Mahadevan,M., Tsilfidis,C., Sabourin,L., Shutler,G., Amemiya,C.,
            Jansen,G., Neville,C., Narang,M., Barcelo,J., O'Hoy,K. et al.
  TITLE     Myotonic dystrophy mutation: an unstable CTG repeat in the 3'
            untranslated region of the gene
  JOURNAL   Science 255 (5049), 1253-1255 (1992)
   PUBMED   1546325
REFERENCE   10 (bases 1 to 2799)
  AUTHORS   Brook,J.D., McCurrach,M.E., Harley,H.G., Buckler,A.J., Church,D.,
            Aburatani,H., Hunter,K., Stanton,V.P., Thirion,J.P., Hudson,T. et
            al.
  TITLE     Molecular basis of myotonic dystrophy: expansion of a trinucleotide
            (CTG) repeat at the 3' end of a transcript encoding a protein
            kinase family member
  JOURNAL   Cell 68 (4), 799-808 (1992)
   PUBMED   1310900
  REMARK    Erratum:[Cell. 1992 Apr 17;69(2):385. doi:
            10.1016/0092-8674(92)90418-c.. PMID: 1568252]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG706056.1, BC062553.1 and
            AV655848.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_004409.4.
            
            Summary: The protein encoded by this gene is a serine-threonine
            kinase that is closely related to other kinases that interact with
            members of the Rho family of small GTPases. Substrates for this
            enzyme include myogenin, the beta-subunit of the L-type calcium
            channels, and phospholemman. The 3' untranslated region of this
            gene contains 5-38 copies of a CTG trinucleotide repeat. Expansion
            of this unstable motif to 50-5,000 copies causes myotonic dystrophy
            type I, which increases in severity with increasing repeat element
            copy number. Repeat expansion is associated with condensation of
            local chromatin structure that disrupts the expression of genes in
            this region. Several alternatively spliced transcript variants of
            this gene have been described, but the full-length nature of some
            of these variants has not been determined. [provided by RefSeq, Jul
            2016].
            
            Transcript Variant: This variant (2) has multiple differences in
            the presence and absence of exons at its 5' end, compared to
            variant 1. These differences produce a distinct 5' UTR and cause
            translation initiation at an alternative start codon, compared to
            variant 1. The encoded protein (isoform 2, also known as isoform 9)
            has a distinct N-terminus and is shorter than isoform 1.
            
            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 :: DRR138520.15879.1,
                                           SRR1803613.74233.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000291270.9/ ENSP00000291270.4
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                BG706056.1         68-79
            13-2249             BC062553.1         1-2237
            2250-2294           AV655848.1         340-384
            2295-2799           BC062553.1         2238-2742
FEATURES             Location/Qualifiers
     source          1..2799
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     gene            1..2799
                     /gene="DMPK"
                     /gene_synonym="DM; DM1; DM1PK; DMK; MDPK; MT-PK"
                     /note="DM1 protein kinase"
                     /db_xref="GeneID:1760"
                     /db_xref="HGNC:HGNC:2933"
                     /db_xref="MIM:605377"
     exon            1..298
                     /gene="DMPK"
                     /gene_synonym="DM; DM1; DM1PK; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     CDS             139..2028
                     /gene="DMPK"
                     /gene_synonym="DM; DM1; DM1PK; DMK; MDPK; MT-PK"
                     /EC_number="2.7.11.1"
                     /note="isoform 2 is encoded by transcript variant 2; DM
                     protein kinase; myotonin protein kinase A; myotonic
                     dystrophy associated protein kinase; thymopoietin homolog;
                     dystrophia myotonica protein kinase"
                     /codon_start=1
                     /product="myotonin-protein kinase isoform 2"
                     /protein_id="NP_004400.4"
                     /db_xref="CCDS:CCDS12674.1"
                     /db_xref="GeneID:1760"
                     /db_xref="HGNC:HGNC:2933"
                     /db_xref="MIM:605377"
                     /translation="MSAEVRLRRLQQLVLDPGFLGLEPLLDLLLGVHQELGASELAQD
                     KYVADFLQWAEPIVVRLKEVRLQRDDFEILKVIGRGAFSEVAVVKMKQTGQVYAMKIM
                     NKWDMLKRGEVSCFREERDVLVNGDRRWITQLHFAFQDENYLYLVMEYYVGGDLLTLL
                     SKFGERIPAEMARFYLAEIVMAIDSVHRLGYVHRDIKPDNILLDRCGHIRLADFGSCL
                     KLRADGTVRSLVAVGTPDYLSPEILQAVGGGPGTGSYGPECDWWALGVFAYEMFYGQT
                     PFYADSTAETYGKIVHYKEHLSLPLVDEGVPEEARDFIQRLLCPPETRLGRGGAGDFR
                     THPFFFGLDWDGLRDSVPPFTPDFEGATDTCNFDLVEDGLTAMVSGGGETLSDIREGA
                     PLGVHLPFVGYSYSCMALRDSEVPGPTPMELEAEQLLEPHVQAPSLEPSVSPQDETAE
                     VAVPAAVPAAEAEAEVTLRELQEALEEEVLTRQSLSREMEAIRTDNQNFASQLREAEA
                     RNRDLEAHVRQLQERMELLQAEGATAVTGVPSPRATDPPSHLDGPPAVAVGQCPLVGP
                     GPMHRRHLLLPARVPRPGLSEALSLLLFAVVLSRAAALGCIGLVAHAGQLTAVWRRPG
                     AARAP"
     exon            299..390
                     /gene="DMPK"
                     /gene_synonym="DM; DM1; DM1PK; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     exon            391..474
                     /gene="DMPK"
                     /gene_synonym="DM; DM1; DM1PK; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     exon            475..570
                     /gene="DMPK"
                     /gene_synonym="DM; DM1; DM1PK; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     exon            571..719
                     /gene="DMPK"
                     /gene_synonym="DM; DM1; DM1PK; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     exon            720..813
                     /gene="DMPK"
                     /gene_synonym="DM; DM1; DM1PK; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     exon            814..1020
                     /gene="DMPK"
                     /gene_synonym="DM; DM1; DM1PK; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     exon            1021..1284
                     /gene="DMPK"
                     /gene_synonym="DM; DM1; DM1PK; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     exon            1285..1370
                     /gene="DMPK"
                     /gene_synonym="DM; DM1; DM1PK; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     exon            1371..1482
                     /gene="DMPK"
                     /gene_synonym="DM; DM1; DM1PK; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     exon            1483..1640
                     /gene="DMPK"
                     /gene_synonym="DM; DM1; DM1PK; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     exon            1641..1738
                     /gene="DMPK"
                     /gene_synonym="DM; DM1; DM1PK; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     exon            1739..1785
                     /gene="DMPK"
                     /gene_synonym="DM; DM1; DM1PK; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     exon            1786..1875
                     /gene="DMPK"
                     /gene_synonym="DM; DM1; DM1PK; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     exon            1876..2799
                     /gene="DMPK"
                     /gene_synonym="DM; DM1; DM1PK; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2774..2779
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DMPK"
                     /gene_synonym="DM; DM1; DM1PK; DMK; MDPK; MT-PK"
                     /note="hexamer: AATAAA"
     polyA_site      2799
                     /gene="DMPK"
                     /gene_synonym="DM; DM1; DM1PK; DMK; MDPK; MT-PK"
                     /note="major polyA site"
ORIGIN      
        1 agagaggccc aggggacagc cagggacagg cagacatgca gccagggctc cagggcctgg
       61 acaggggctg ccaggccctg tgacaggagg accccgagcc cccggcccgg ggaggggcca
      121 tggtgctgcc tgtccaacat gtcagccgag gtgcggctga ggcggctcca gcagctggtg
      181 ttggacccgg gcttcctggg gctggagccc ctgctcgacc ttctcctggg cgtccaccag
      241 gagctgggcg cctccgaact ggcccaggac aagtacgtgg ccgacttctt gcagtgggcg
      301 gagcccatcg tggtgaggct taaggaggtc cgactgcaga gggacgactt cgagattctg
      361 aaggtgatcg gacgcggggc gttcagcgag gtagcggtag tgaagatgaa gcagacgggc
      421 caggtgtatg ccatgaagat catgaacaag tgggacatgc tgaagagggg cgaggtgtcg
      481 tgcttccgtg aggagaggga cgtgttggtg aatggggacc ggcggtggat cacgcagctg
      541 cacttcgcct tccaggatga gaactacctg tacctggtca tggagtatta cgtgggcggg
      601 gacctgctga cactgctgag caagtttggg gagcggattc cggccgagat ggcgcgcttc
      661 tacctggcgg agattgtcat ggccatagac tcggtgcacc ggcttggcta cgtgcacagg
      721 gacatcaaac ccgacaacat cctgctggac cgctgtggcc acatccgcct ggccgacttc
      781 ggctcttgcc tcaagctgcg ggcagatgga acggtgcggt cgctggtggc tgtgggcacc
      841 ccagactacc tgtcccccga gatcctgcag gctgtgggcg gtgggcctgg gacaggcagc
      901 tacgggcccg agtgtgactg gtgggcgctg ggtgtattcg cctatgaaat gttctatggg
      961 cagacgccct tctacgcgga ttccacggcg gagacctatg gcaagatcgt ccactacaag
     1021 gagcacctct ctctgccgct ggtggacgaa ggggtccctg aggaggctcg agacttcatt
     1081 cagcggttgc tgtgtccccc ggagacacgg ctgggccggg gtggagcagg cgacttccgg
     1141 acacatccct tcttctttgg cctcgactgg gatggtctcc gggacagcgt gccccccttt
     1201 acaccggatt tcgaaggtgc caccgacaca tgcaacttcg acttggtgga ggacgggctc
     1261 actgccatgg tgagcggggg cggggagaca ctgtcggaca ttcgggaagg tgcgccgcta
     1321 ggggtccacc tgccttttgt gggctactcc tactcctgca tggccctcag ggacagtgag
     1381 gtcccaggcc ccacacccat ggaactggag gccgagcagc tgcttgagcc acacgtgcaa
     1441 gcgcccagcc tggagccctc ggtgtcccca caggatgaaa cagctgaagt ggcagttcca
     1501 gcggctgtcc ctgcggcaga ggctgaggcc gaggtgacgc tgcgggagct ccaggaagcc
     1561 ctggaggagg aggtgctcac ccggcagagc ctgagccggg agatggaggc catccgcacg
     1621 gacaaccaga acttcgccag tcaactacgc gaggcagagg ctcggaaccg ggacctagag
     1681 gcacacgtcc ggcagttgca ggagcggatg gagttgctgc aggcagaggg agccacagct
     1741 gtcacggggg tccccagtcc ccgggccacg gatccacctt cccatctaga tggccccccg
     1801 gccgtggctg tgggccagtg cccgctggtg gggccaggcc ccatgcaccg ccgccacctg
     1861 ctgctccctg ccagggtccc taggcctggc ctatcggagg cgctttccct gctcctgttc
     1921 gccgttgttc tgtctcgtgc cgccgccctg ggctgcattg ggttggtggc ccacgccggc
     1981 caactcaccg cagtctggcg ccgcccagga gccgcccgcg ctccctgaac cctagaactg
     2041 tcttcgactc cggggccccg ttggaagact gagtgcccgg ggcacggcac agaagccgcg
     2101 cccaccgcct gccagttcac aaccgctccg agcgtgggtc tccgcccagc tccagtcctg
     2161 tgatccgggc ccgcccccta gcggccgggg agggaggggc cgggtccgcg gccggcgaac
     2221 ggggctcgaa gggtccttgt agccgggaat gctgctgctg ctgctgctgc tgctgctgct
     2281 gctgctgctg ctgctgctgc tgctgctgct ggggggatca cagaccattt ctttctttcg
     2341 gccaggctga ggccctgacg tggatgggca aactgcaggc ctgggaaggc agcaagccgg
     2401 gccgtccgtg ttccatcctc cacgcacccc cacctatcgt tggttcgcaa agtgcaaagc
     2461 tttcttgtgc atgacgccct gctctgggga gcgtctggcg cgatctctgc ctgcttactc
     2521 gggaaatttg cttttgccaa acccgctttt tcggggatcc cgcgcccccc tcctcacttg
     2581 cgctgctctc ggagccccag ccggctccgc ccgcttcggc ggtttggata tttattgacc
     2641 tcgtcctccg actcgctgac aggctacagg acccccaaca accccaatcc acgttttgga
     2701 tgcactgaga ccccgacatt cctcggtatt tattgtctgt ccccacctag gacccccacc
     2761 cccgaccctc gcgaataaaa ggccctccat ctgcccaaa
//
