LOCUS       NM_001379257            2748 bp    mRNA    linear   ROD 09-JUN-2024
DEFINITION  Mus musculus dystrophia myotonica-protein kinase (Dmpk), transcript
            variant 6, mRNA.
ACCESSION   NM_001379257 XM_011250433
VERSION     NM_001379257.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2748)
  AUTHORS   Nutter,C.A., Kidd,B.M., Carter,H.A., Hamel,J.I., Mackie,P.M.,
            Kumbkarni,N., Davenport,M.L., Tuyn,D.M., Gopinath,A., Creigh,P.D.,
            Sznajder,L.J., Wang,E.T., Ranum,L.P.W., Khoshbouei,H., Day,J.W.,
            Sampson,J.B., Prokop,S. and Swanson,M.S.
  TITLE     Choroid plexus mis-splicing and altered cerebrospinal fluid
            composition in myotonic dystrophy type 1
  JOURNAL   Brain 146 (10), 4217-4232 (2023)
   PUBMED   37143315
REFERENCE   2  (bases 1 to 2748)
  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   3  (bases 1 to 2748)
  AUTHORS   Dennison,B.J.C., Larson,E.D., Fu,R., Mo,J. and Fantauzzo,K.A.
  TITLE     Srsf3 mediates alternative RNA splicing downstream of PDGFRalpha
            signaling in the facial mesenchyme
  JOURNAL   Development 148 (14) (2021)
   PUBMED   34184034
REFERENCE   4  (bases 1 to 2748)
  AUTHORS   Llagostera,E., Alvarez Lopez,M.J., Scimia,C., Catalucci,D.,
            Parrizas,M., Ruiz-Lozano,P. and Kaliman,P.
  TITLE     Altered beta-adrenergic response in mice lacking myotonic dystrophy
            protein kinase
  JOURNAL   Muscle Nerve 45 (1), 128-130 (2012)
   PUBMED   22190319
  REMARK    GeneRIF: The data of this study demonstrated that DMPK knockout
            mice present altered beta-agonist-induced responses and suggest
            that this is due, at least in part, to a reduced density of
            beta(1)-adrenergic receptors in cardiac plasma membranes.
REFERENCE   5  (bases 1 to 2748)
  AUTHORS   Harmon,E.B., Harmon,M.L., Larsen,T.D., Yang,J., Glasford,J.W. and
            Perryman,M.B.
  TITLE     Myotonic dystrophy protein kinase is critical for nuclear envelope
            integrity
  JOURNAL   J Biol Chem 286 (46), 40296-40306 (2011)
   PUBMED   21949239
REFERENCE   6  (bases 1 to 2748)
  AUTHORS   Mulders,S.A., van Horssen,R., Gerrits,L., Bennink,M.B., Pluk,H., de
            Boer-van Huizen,R.T., Croes,H.J., Wijers,M., van de Loo,F.A.,
            Fransen,J., Wieringa,B. and Wansink,D.G.
  TITLE     Abnormal actomyosin assembly in proliferating and differentiating
            myoblasts upon expression of a cytosolic DMPK isoform
  JOURNAL   Biochim Biophys Acta 1813 (5), 867-877 (2011)
   PUBMED   21295081
  REMARK    GeneRIF: Cytosolic DMPK participates in remodeling of the
            actomyosin cytoskeleton in developing skeletal muscle cells.
REFERENCE   7  (bases 1 to 2748)
  AUTHORS   Harmon,E.B., Harmon,M.L., Larsen,T.D., Paulson,A.F. and
            Perryman,M.B.
  TITLE     Myotonic dystrophy protein kinase is expressed in embryonic
            myocytes and is required for myotube formation
  JOURNAL   Dev Dyn 237 (9), 2353-2366 (2008)
   PUBMED   18729234
  REMARK    GeneRIF: Data show that during cardiac myocyte maturation, DMPK
            migrates from perinuclear to cellular membrane localization.
            Manipulating DMPK levels in cultured cardiac and skeletal myocytes
            has revealed a key role for DMPK in myocyte differentiation.
REFERENCE   8  (bases 1 to 2748)
  AUTHORS   Jansen,G., Bachner,D., Coerwinkel,M., Wormskamp,N., Hameister,H.
            and Wieringa,B.
  TITLE     Structural organization and developmental expression pattern of the
            mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic
            dystrophy locus
  JOURNAL   Hum Mol Genet 4 (5), 843-852 (1995)
   PUBMED   7633444
REFERENCE   9  (bases 1 to 2748)
  AUTHORS   Shaw,D.J., McCurrach,M., Rundle,S.A., Harley,H.G., Crow,S.R.,
            Sohn,R., Thirion,J.P., Hamshere,M.G., Buckler,A.J., Harper,P.S. et
            al.
  TITLE     Genomic organization and transcriptional units at the myotonic
            dystrophy locus
  JOURNAL   Genomics 18 (3), 673-679 (1993)
   PUBMED   7905855
REFERENCE   10 (bases 1 to 2748)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC170864.2 and AC145199.3.
            
            On Mar 27, 2020 this sequence version replaced XM_011250433.3.
            
            Summary: The protein encoded by this gene is a serine/threonine
            protein kinase that contains coiled-coil and C-terminal membrane
            association domains. In the embryonic mouse, it is found in cardiac
            and skeletal myocytes where it appears to play a role in
            myogenesis. In adults, the transcript is localized to several
            tissues including brain, heart, and skeletal and smooth muscle, and
            a function in cytoskeletal remodeling has been described.
            Transcripts with expanded CUG repeats in the 3' untranslated region
            mediate alternative splicing of several genes and sequester RNA
            binding proteins and RNA transcripts that contain CAG repeats,
            resulting in myotonic dystrophy, an autosomal dominant
            neuromuscular disorder. Alternative splicing results in multiple
            protein coding and non-coding transcript variants. [provided by
            RefSeq, Oct 2014].
            
            Transcript Variant: This variant (6) encodes the longest isoform
            (6).
            
            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 :: ERR3363658.630140.1,
                                           SRR7974084.7870.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-297               AC170864.2         2808-3104           c
            298-389             AC170864.2         885-976             c
            390-473             AC170864.2         547-630             c
            474-569             AC170864.2         378-473             c
            570-638             AC170864.2         1-69                c
            639-718             AC145199.3         122821-122900       c
            719-812             AC145199.3         122529-122622       c
            813-1019            AC145199.3         122162-122368       c
            1020-1283           AC145199.3         121598-121861       c
            1284-1369           AC145199.3         120866-120951       c
            1370-1481           AC145199.3         118822-118933       c
            1482-1645           AC145199.3         118018-118181       c
            1646-1743           AC145199.3         117826-117923       c
            1744-1790           AC145199.3         117608-117654       c
            1791-1876           AC145199.3         117230-117315       c
            1877-2748           AC145199.3         116041-116912       c
FEATURES             Location/Qualifiers
     source          1..2748
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="7"
                     /map="7 9.46 cM"
     gene            1..2748
                     /gene="Dmpk"
                     /gene_synonym="DM; Dm15; DMK; MDPK; MT-PK"
                     /note="dystrophia myotonica-protein kinase"
                     /db_xref="GeneID:13400"
                     /db_xref="MGI:MGI:94906"
     exon            1..297
                     /gene="Dmpk"
                     /gene_synonym="DM; Dm15; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     CDS             138..2036
                     /gene="Dmpk"
                     /gene_synonym="DM; Dm15; DMK; MDPK; MT-PK"
                     /EC_number="2.7.11.1"
                     /note="isoform 6 is encoded by transcript variant 6;
                     dystrophia myotonica kinase, B15; myotonin-protein kinase;
                     DM-kinase; myotonic dystrophy protein kinase"
                     /codon_start=1
                     /product="myotonin-protein kinase isoform 6"
                     /protein_id="NP_001366186.1"
                     /db_xref="GeneID:13400"
                     /db_xref="MGI:MGI:94906"
                     /translation="MSAEVRLRQLQQLVLDPGFLGLEPLLDLLLGVHQELGASHLAQD
                     KYVADFLQWVEPIAARLKEVRLQRDDFEILKVIGRGAFSEVAVVKMKQTGQVYAMKIM
                     NKWDMLKRGEVSCFREERDVLVKGDRRWITQLHFAFQDENYLYLVMEYYVGGDLLTLL
                     SKFGERIPAEMARFYLAEIVMAIDSVHRLGYVHRDIKPDNILLDRCGHIRLADFGSCL
                     KLQPDGMVRSLVAVGTPDYLSPEILQAVGGGPGAGSYGPECDWWALGVFAYEMFYGQT
                     PFYADSTAETYAKIVHYREHLSLPLADTVVPEEAQDLIRGLLCPAEIRLGRGGAGDFQ
                     KHPFFFGLDWEGLRDSVPPFTPDFEGATDTCNFDVVEDRLTAMVSGGGETLSDMQEDM
                     PLGVRLPFVGYSYCCMAFRDNQVPDPTPMELEALQLPVSDLQGLDLQPPVSPPDQVAE
                     EADLVAVPAPVAEAETTVTLQQLQEALEEEVLTRQSLSRELEAIRTANQNFSSQLQEA
                     EVRNRDLEAHVRQLQERMEMLQAPGAAAITGVPSPRATDPPSHMAPRPWLWASARWWG
                     QAPCTAVTCCSLPGSLGLAYPRRVACSCSPLLWLLPPHWAALGWWPIPAVSPQSGVSR
                     EPPSPPEP"
     exon            298..389
                     /gene="Dmpk"
                     /gene_synonym="DM; Dm15; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     exon            390..473
                     /gene="Dmpk"
                     /gene_synonym="DM; Dm15; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     exon            474..569
                     /gene="Dmpk"
                     /gene_synonym="DM; Dm15; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     exon            570..718
                     /gene="Dmpk"
                     /gene_synonym="DM; Dm15; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     exon            719..812
                     /gene="Dmpk"
                     /gene_synonym="DM; Dm15; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     exon            813..1019
                     /gene="Dmpk"
                     /gene_synonym="DM; Dm15; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     exon            1020..1283
                     /gene="Dmpk"
                     /gene_synonym="DM; Dm15; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     exon            1284..1369
                     /gene="Dmpk"
                     /gene_synonym="DM; Dm15; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     exon            1370..1481
                     /gene="Dmpk"
                     /gene_synonym="DM; Dm15; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     exon            1482..1645
                     /gene="Dmpk"
                     /gene_synonym="DM; Dm15; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     exon            1646..1743
                     /gene="Dmpk"
                     /gene_synonym="DM; Dm15; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     exon            1744..1790
                     /gene="Dmpk"
                     /gene_synonym="DM; Dm15; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     exon            1791..1876
                     /gene="Dmpk"
                     /gene_synonym="DM; Dm15; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     exon            1877..2748
                     /gene="Dmpk"
                     /gene_synonym="DM; Dm15; DMK; MDPK; MT-PK"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2722..2727
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Dmpk"
                     /gene_synonym="DM; Dm15; DMK; MDPK; MT-PK"
                     /note="hexamer: AATAAA"
     polyA_site      2748
                     /gene="Dmpk"
                     /gene_synonym="DM; Dm15; DMK; MDPK; MT-PK"
                     /note="major polyA site"
ORIGIN      
        1 agagagaccc aagggatagt cagggacggg cagacatgca gctagggttc tggggcctgg
       61 acaggggcag ccaggccctg tgacgggaag accccgagct ccggcccggg gaggggccat
      121 ggtgttgcct gcccaacatg tcagccgaag tgcggctgag gcagctccag cagctggtgc
      181 tggacccagg cttcctggga ctggagcccc tgctcgacct tctcctgggc gtccaccagg
      241 agctgggtgc ctctcaccta gcccaggaca agtatgtggc cgacttcttg cagtgggtgg
      301 agcccattgc agcaaggctt aaggaggtcc gactgcagag ggatgatttt gagattttga
      361 aggtgatcgg gcgtggggcg ttcagcgagg tagcggtggt gaagatgaaa cagacgggcc
      421 aagtgtatgc catgaagatt atgaataagt gggacatgct gaagagaggc gaggtgtcgt
      481 gcttccggga agaaagggat gtattagtga aaggggaccg gcgctggatc acacagctgc
      541 actttgcctt ccaggatgag aactacctgt acctggtcat ggaatactac gtgggcgggg
      601 acctgctaac gctgctgagc aagtttgggg agcggatccc cgccgagatg gctcgcttct
      661 acctggccga gattgtcatg gccatagact ccgtgcaccg gctgggctac gtgcacaggg
      721 acatcaaacc agataacatt ctgctggacc gatgtgggca cattcgcctg gcagacttcg
      781 gctcctgcct caaactgcag cctgatggaa tggtgaggtc gctggtggct gtgggcaccc
      841 cggactacct gtctcctgag attctgcagg ccgttggtgg agggcctggg gcaggcagct
      901 acgggccaga gtgtgactgg tgggcactgg gcgtgttcgc ctatgagatg ttctatgggc
      961 agaccccctt ctacgcggac tccacagccg agacatatgc caagattgtg cactacaggg
     1021 aacacttgtc gctgccgctg gcagacacag ttgtccccga ggaagctcag gacctcattc
     1081 gtgggctgct gtgtcctgct gagataaggc taggtcgagg tggggcaggt gatttccaga
     1141 aacatccttt cttctttggc cttgattggg agggtctccg agacagtgta ccccccttta
     1201 caccagactt cgagggtgcc acggacacat gcaatttcga tgtggtggag gaccggctca
     1261 ctgccatggt gagcgggggc ggggagacgc tgtcagacat gcaggaagac atgccccttg
     1321 gggtgcgcct gcccttcgtg ggctactcct actgctgcat ggccttcaga gacaatcagg
     1381 tcccggaccc cacccctatg gaactagagg ccctgcagtt gcctgtgtca gacttgcaag
     1441 ggcttgactt gcagccccca gtgtccccac cggatcaagt ggctgaagag gctgacctag
     1501 tggctgtccc tgcccctgtg gctgaggcag agaccacggt aacgctgcag cagctccagg
     1561 aagccctgga agaagaggtt ctcacccggc agagcctgag ccgcgagctg gaggccatcc
     1621 ggaccgccaa ccagaacttc tccagccaac tacaggaggc cgaggtccga aaccgagacc
     1681 tggaggcgca tgttcggcag ctacaggaac ggatggagat gctgcaggcc ccaggagccg
     1741 cagccatcac gggggtcccc agtccccggg ccacggatcc accttcccat atggcccccc
     1801 ggccgtggct gtgggccagt gcccgctggt ggggccaggc cccatgcacc gccgtcacct
     1861 gctgctccct gccaggatcc ctaggcctgg cctatccgag gcgcgttgcc tgctcctgtt
     1921 cgccgctgct ctggctgctg ccgccacact gggctgcact gggttggtgg cctataccgg
     1981 cggtctcacc ccagtctggt gtttcccggg agccaccttc gccccctgaa ccctaagact
     2041 ccaagccatc tttcatttag gcctcctagg aaggtcgagc gaccagggag cgacccaaag
     2101 cgtctctgtg cccatcgcgc cccccccccc cccccaccgc tccgctccac acttctgtga
     2161 gcctgggtcc ccacccagct ccgctcctgt gatccaggcc tgccacctgg cggccgggga
     2221 gggaggaaca gggctcgtgc ccagcacccc tggttcctgc agagctggta gccaccgctg
     2281 ctgcagcagc tgggcattcg ccgaccttgc tttactcagc cccgacgtgg atgggcaaac
     2341 tgctcagctc atccgatttc actttttcac tctcccagcc atcagttaca agccataagc
     2401 atgagccccc tatttccagg gacatcccat tcccatagtg atggatcagc aagacctctg
     2461 ccagcacaca cggagtcttt ggcttcggac agcctcactc ctgggggttg ctgcaactcc
     2521 ttccccgtgt acacgtctgc actctaacaa cggagccaca gctgcactcc cccctccccc
     2581 aaagcagtgt gggtatttat tgatcttgtt atctgactca ctgacagact ccgggaccca
     2641 cgttttagat gcattgagac tcgacattcc tcggtattta ttgtctgtcc ccacctacga
     2701 cctccactcc cgacccttgc gaataaaata cttctggtct gccctaaa
//
