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

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: human all
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Genomic context

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_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Modeling muscle regeneration in RNA toxicity mice.
Title: Modeling muscle regeneration in RNA toxicity mice.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Targeted (3) 1 citation
Endonuclease-mediated (5) 1 citation

General gene information

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Markers

Dm15 (e-PCR), detects polymorphism
- UniSTS:142856

RH75247 (e-PCR)
- UniSTS:87387

Dm15 (e-PCR), detects polymorphism
- UniSTS:243331

Dmpk (e-PCR), detects polymorphism
- UniSTS:265659

Dm15 (e-PCR), detects polymorphism
- UniSTS:265416

AW822222 (e-PCR)
- UniSTS:208087

NoName (e-PCR)
- UniSTS:224473

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

EC 2.7.11.1

NP_001177420.1

EC 2.7.11.1

NP_001361580.1

EC 2.7.11.1

NP_001366186.1

EC 2.7.11.1

NP_115794.1

EC 2.7.11.1

XP_006539579.1

EC 2.7.11.1

XP_006539580.1

EC 2.7.11.1

XP_006539582.1

EC 2.7.11.1

XP_006539583.1

EC 2.7.11.1

XP_006539584.1

EC 2.7.11.1

XP_006539585.1

EC 2.7.11.1

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)

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
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
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
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
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

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

NC_000073.7 Reference GRCm39 C57BL/6J

Range

18817571..18827746

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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