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

Gene ID: 13400, updated on 5-Mar-2024

Summary

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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
human all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Modeling muscle regeneration in RNA toxicity mice. Yadava RS, et al. Hum Mol Genet, 2021 Jun 9. PMID 33864373, Free PMC Article
  2. Cell-type-specific dysregulation of RNA alternative splicing in short tandem repeat mouse knockin models of myotonic dystrophy. Nutter CA, et al. Genes Dev, 2019 Dec 1. PMID 31624084, Free PMC Article
  3. Altered β-adrenergic response in mice lacking myotonic dystrophy protein kinase. Llagostera E, et al. Muscle Nerve, 2012 Jan. PMID 22190319, Free PMC Article
  4. Abnormal actomyosin assembly in proliferating and differentiating myoblasts upon expression of a cytosolic DMPK isoform. Mulders SA, et al. Biochim Biophys Acta, 2011 May. PMID 21295081
  5. High-fat diet induced adiposity and insulin resistance in mice lacking the myotonic dystrophy protein kinase. Llagostera E, et al. FEBS Lett, 2009 Jun 18. PMID 19482024

See all (74) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Modeling muscle regeneration in RNA toxicity mice.
    Title: Modeling muscle regeneration in RNA toxicity mice.
  2. DM1 Transgenic Mice Exhibit Abnormal Neurotransmitter Homeostasis and Synaptic Plasticity in Association with RNA Foci and Mis-Splicing in the Hippocampus.
    Title: DM1 Transgenic Mice Exhibit Abnormal Neurotransmitter Homeostasis and Synaptic Plasticity in Association with RNA Foci and Mis-Splicing in the Hippocampus.
  3. Systemic therapy in an RNA toxicity mouse model with an antisense oligonucleotide therapy targeting a non-CUG sequence within the DMPK 3'UTR RNA.
    Title: Systemic therapy in an RNA toxicity mouse model with an antisense oligonucleotide therapy targeting a non-CUG sequence within the DMPK 3'UTR RNA.
  4. Systemic Evaluation of Chimeric LNA/2'-O-Methyl Steric Blockers for Myotonic Dystrophy Type 1 Therapy.
    Title: Systemic Evaluation of Chimeric LNA/2'-O-Methyl Steric Blockers for Myotonic Dystrophy Type 1 Therapy.
  5. These results suggest the existence of p53-p73-DMPK axis which mediates DNA-damage induced actomyosin contraction at the cortex and concomitant cell death.
    Title: DMPK is a New Candidate Mediator of Tumor Suppressor p53-Dependent Cell Death.
  6. MEF2-induced loss of sarcomeres is mediated by DMPK via a decrease in sarcomeric gene expression by interfering with SRF transcriptional activity, leading to adverse cardiomyocyte remodelling and heart failure.
    Title: The MEF2 transcriptional target DMPK induces loss of sarcomere structure and cardiomyopathy.
  7. We have developed an inducible, skeletal muscle-specific mouse model of DM1 (CUG960) that expresses 960 CUG repeat-expressing animals (CUG960) in the context of human DMPK exons 11-15.
    Title: Mechanisms of skeletal muscle wasting in a mouse model for myotonic dystrophy type 1.
  8. Our results support the feasibility and safety of using antisense oligonucleotides for post-transcriptional silencing of DMPK in muscle and heart.
    Title: Dmpk gene deletion or antisense knockdown does not compromise cardiac or skeletal muscle function in mice.
  9. Sense DMPK RNA foci clearly co-localize with MBNL1 and MBNL2 proteins and accumulate in myotonic dystrophy 1 tissues during development.
    Title: Sense and Antisense DMPK RNA Foci Accumulate in DM1 Tissues during Development.
  10. 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.
    Title: Altered β-adrenergic response in mice lacking myotonic dystrophy protein kinase.
Submit: New GeneRIF Correction See all GeneRIFs (25)

Variation

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Alleles

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

Pathways from PubChem

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General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding ISO
Inferred from Sequence Orthology
more info
  
enables 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 nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein 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 transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
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 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 peptidyl-serine phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in protein phosphorylation ISO
Inferred from Sequence Orthology
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 cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
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 mitochondrion IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in sarcoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
located_in sarcoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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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)

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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_001190490.2 → NP_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:446 → 506
    DMPK_coil; DMPK coiled coil domain like
    smart00220
    Location:71 → 320
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl21453
    Location:69 → 379
    PKc_like; Protein Kinases, catalytic domain

  2. NM_001190491.2 → NP_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:472 → 532
    DMPK_coil; DMPK coiled coil domain like
    smart00220
    Location:71 → 339
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl21453
    Location:69 → 405
    PKc_like; Protein Kinases, catalytic domain

  3. NM_001374651.1 → NP_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:467 → 527
    DMPK_coil; DMPK coiled coil domain like
    cl21453
    Location:69 → 400
    PKc_like; Protein Kinases, catalytic domain

  4. NM_001379257.1 → NP_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:472 → 532
    DMPK_coil; DMPK coiled coil domain like
    cl21453
    Location:69 → 405
    PKc_like; Protein Kinases, catalytic domain

  5. NM_032418.3 → NP_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:472 → 532
    DMPK_coil; DMPK coiled coil domain like
    smart00220
    Location:71 → 339
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl21453
    Location:69 → 405
    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_006539516.4 → XP_006539579.1  myotonin-protein kinase isoform X1

    UniProtKB/TrEMBL
    Q6DI71
    Conserved Domains (2) summary
    pfam08826
    Location:472 → 532
    DMPK_coil; DMPK coiled coil domain like
    cl21453
    Location:69 → 405
    PKc_like; Protein Kinases, catalytic domain

  2. XM_006539521.4 → XP_006539584.1  myotonin-protein kinase isoform X5

    UniProtKB/TrEMBL
    Q6DI71
    Conserved Domains (2) summary
    pfam08826
    Location:472 → 532
    DMPK_coil; DMPK coiled coil domain like
    cl21453
    Location:69 → 405
    PKc_like; Protein Kinases, catalytic domain

  3. XM_006539522.3 → XP_006539585.1  myotonin-protein kinase isoform X6

    UniProtKB/TrEMBL
    Q05CL1
    Conserved Domains (2) summary
    pfam08826
    Location:472 → 532
    DMPK_coil; DMPK coiled coil domain like
    cl21453
    Location:69 → 405
    PKc_like; Protein Kinases, catalytic domain

  4. XM_006539520.4 → XP_006539583.1  myotonin-protein kinase isoform X4

    UniProtKB/TrEMBL
    Q6DI71
    Conserved Domains (2) summary
    pfam08826
    Location:472 → 532
    DMPK_coil; DMPK coiled coil domain like
    cl21453
    Location:69 → 405
    PKc_like; Protein Kinases, catalytic domain

  5. XM_006539517.4 → XP_006539580.1  myotonin-protein kinase isoform X2

    UniProtKB/TrEMBL
    Q6DI71
    Conserved Domains (2) summary
    pfam08826
    Location:467 → 527
    DMPK_coil; DMPK coiled coil domain like
    cl21453
    Location:69 → 400
    PKc_like; Protein Kinases, catalytic domain

  6. XM_006539519.4 → XP_006539582.1  myotonin-protein kinase isoform X3

    UniProtKB/TrEMBL
    Q6DI71
    Conserved Domains (2) summary
    pfam08826
    Location:467 → 527
    DMPK_coil; DMPK coiled coil domain like
    cl21453
    Location:69 → 400
    PKc_like; Protein Kinases, catalytic domain

RNA

  1. XR_391041.3 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P54265.1 GenPept UniProtKB/Swiss-Prot:P54265

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