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    Dmpk dystrophia myotonica-protein kinase [ Mus musculus (house mouse) ]

    Gene ID: 13400, updated on 27-Nov-2024

    Summary

    Official Symbol
    Dmpkprovided by MGI
    Official Full Name
    dystrophia myotonica-protein kinaseprovided by MGI
    Primary source
    MGI:MGI:94906
    See related
    Ensembl:ENSMUSG00000030409 AllianceGenome:MGI:94906
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    DM; DMK; Dm15; MDPK; MT-PK
    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]
    Expression
    Broad expression in heart adult (RPKM 189.9), bladder adult (RPKM 179.2) and 16 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Dmpk in Genome Data Viewer
    Location:
    7 A3; 7 9.46 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (18817571..18827746)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (19083646..19093821)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene radial spoke head 6 homolog A (Chlamydomonas) Neighboring gene STARR-positive B cell enhancer ABC_E8152 Neighboring gene dystrophia myotonica-containing WD repeat motif Neighboring gene microRNA 3100 Neighboring gene STARR-positive B cell enhancer ABC_E9285 Neighboring gene sine oculis-related homeobox 5 Neighboring gene meiosis initiator Neighboring gene STARR-positive B cell enhancer ABC_E287 Neighboring gene F-box protein 46 Neighboring gene STARR-positive B cell enhancer ABC_E10426

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 3-phosphoinositide-dependent protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables AMP-activated protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ATP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables DNA-dependent protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables Rho-dependent protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables eukaryotic translation initiation factor 2alpha kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AS1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AS121 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AT120 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AXS139 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2BS14 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2BS36 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3S10 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3S28 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3S57 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T11 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T3 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T45 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T6 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H4S1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables myosin phosphatase regulator activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables myosin phosphatase regulator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein serine/threonine kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein serine/threonine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ribosomal protein S6 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular calcium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intracellular calcium ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in muscle cell apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in muscle cell apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in nuclear envelope organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in nuclear envelope organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nuclear envelope organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein phosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of heart contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of heart contraction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of heart contraction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of myotube differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of skeletal muscle contraction by calcium ion signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of skeletal muscle contraction by calcium ion signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of sodium ion transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of synapse structural plasticity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial outer membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear outer membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in sarcoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    myotonin-protein kinase
    Names
    DM-kinase
    dystrophia myotonica kinase, B15
    myotonic dystrophy protein kinase
    NP_001177419.1
    NP_001177420.1
    NP_001361580.1
    NP_001366186.1
    NP_115794.1
    XP_006539579.1
    XP_006539580.1
    XP_006539582.1
    XP_006539583.1
    XP_006539584.1
    XP_006539585.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001190490.2NP_001177419.1  myotonin-protein kinase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site within an exon of the coding region, compared to variant 1. The resulting protein (isoform 2) is shorter, compared to isoform 1.
      Source sequence(s)
      AC145199, AC170864
      Consensus CDS
      CCDS52053.1
      UniProtKB/TrEMBL
      E9Q6J9, Q6DI71
      Related
      ENSMUSP00000104114.2, ENSMUST00000108474.2
      Conserved Domains (3) summary
      pfam08826
      Location:446506
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:71320
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cl21453
      Location:69379
      PKc_like; Protein Kinases, catalytic domain
    2. NM_001190491.2NP_001177420.1  myotonin-protein kinase isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two exons in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The resulting protein (isoform 3) is shorter, compared to isoform 1, and is also known as DMPK E.
      Source sequence(s)
      AC145199, AC170864
      Consensus CDS
      CCDS52054.1
      UniProtKB/TrEMBL
      Q05CL1
      Related
      ENSMUSP00000104113.4, ENSMUST00000108473.10
      Conserved Domains (3) summary
      pfam08826
      Location:472532
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:71339
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cl21453
      Location:69405
      PKc_like; Protein Kinases, catalytic domain
    3. NM_001374651.1NP_001361580.1  myotonin-protein kinase isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC145199, AC170864
      Consensus CDS
      CCDS90170.1
      UniProtKB/TrEMBL
      Q05CL1
      Related
      ENSMUSP00000158930.2, ENSMUST00000238982.2
      Conserved Domains (2) summary
      pfam08826
      Location:467527
      DMPK_coil; DMPK coiled coil domain like
      cl21453
      Location:69400
      PKc_like; Protein Kinases, catalytic domain
    4. NM_001379257.1NP_001366186.1  myotonin-protein kinase isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) encodes the longest isoform (6).
      Source sequence(s)
      AC145199, AC170864
      UniProtKB/TrEMBL
      Q05CL1
      Conserved Domains (2) summary
      pfam08826
      Location:472532
      DMPK_coil; DMPK coiled coil domain like
      cl21453
      Location:69405
      PKc_like; Protein Kinases, catalytic domain
    5. NM_032418.3NP_115794.1  myotonin-protein kinase isoform 1

      See identical proteins and their annotated locations for NP_115794.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1, also known as DMPK A.
      Source sequence(s)
      AC145199, AC170864
      Consensus CDS
      CCDS39794.1
      UniProtKB/Swiss-Prot
      P54265
      UniProtKB/TrEMBL
      Q6DI71
      Related
      ENSMUSP00000032568.8, ENSMUST00000032568.14
      Conserved Domains (3) summary
      pfam08826
      Location:472532
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:71339
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cl21453
      Location:69405
      PKc_like; Protein Kinases, catalytic domain

    RNA

    1. NR_126095.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC145199, AC170864
      Related
      ENSMUST00000154199.8

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      18817571..18827746
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006539516.4XP_006539579.1  myotonin-protein kinase isoform X1

      UniProtKB/TrEMBL
      Q6DI71
      Conserved Domains (2) summary
      pfam08826
      Location:472532
      DMPK_coil; DMPK coiled coil domain like
      cl21453
      Location:69405
      PKc_like; Protein Kinases, catalytic domain
    2. XM_006539521.4XP_006539584.1  myotonin-protein kinase isoform X5

      UniProtKB/TrEMBL
      Q6DI71
      Conserved Domains (2) summary
      pfam08826
      Location:472532
      DMPK_coil; DMPK coiled coil domain like
      cl21453
      Location:69405
      PKc_like; Protein Kinases, catalytic domain
    3. XM_006539522.3XP_006539585.1  myotonin-protein kinase isoform X6

      UniProtKB/TrEMBL
      Q05CL1
      Conserved Domains (2) summary
      pfam08826
      Location:472532
      DMPK_coil; DMPK coiled coil domain like
      cl21453
      Location:69405
      PKc_like; Protein Kinases, catalytic domain
    4. XM_006539520.4XP_006539583.1  myotonin-protein kinase isoform X4

      UniProtKB/TrEMBL
      Q6DI71
      Conserved Domains (2) summary
      pfam08826
      Location:472532
      DMPK_coil; DMPK coiled coil domain like
      cl21453
      Location:69405
      PKc_like; Protein Kinases, catalytic domain
    5. XM_006539517.4XP_006539580.1  myotonin-protein kinase isoform X2

      UniProtKB/TrEMBL
      Q6DI71
      Conserved Domains (2) summary
      pfam08826
      Location:467527
      DMPK_coil; DMPK coiled coil domain like
      cl21453
      Location:69400
      PKc_like; Protein Kinases, catalytic domain
    6. XM_006539519.4XP_006539582.1  myotonin-protein kinase isoform X3

      UniProtKB/TrEMBL
      Q6DI71
      Conserved Domains (2) summary
      pfam08826
      Location:467527
      DMPK_coil; DMPK coiled coil domain like
      cl21453
      Location:69400
      PKc_like; Protein Kinases, catalytic domain

    RNA

    1. XR_391041.3 RNA Sequence