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DMPK DM1 protein kinase [ Homo sapiens (human) ]

Gene ID: 1760, updated on 3-Apr-2024

Summary

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Official Symbol
DMPKprovided by HGNC
Official Full Name
DM1 protein kinaseprovided by HGNC
Primary source
HGNC:HGNC:2933
See related
Ensembl:ENSG00000104936 MIM:605377; AllianceGenome:HGNC:2933
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DM; DM1; DMK; MDPK; DM1PK; MT-PK
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]
Expression
Ubiquitous expression in heart (RPKM 38.6), prostate (RPKM 25.3) and 23 other tissues See more
Orthologs
mouse all
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Genomic context

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See DMPK in Genome Data Viewer
Location:
19q13.32
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45769709..45782490, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (48597244..48609980, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (46272967..46285748, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene meiosis initiator Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46250835-46251627 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46266800-46267354 Neighboring gene origin of replication in DMPK trinucleotide repeat region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46270229-46270864 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46270929-46271488 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14819 Neighboring gene dystrophia myotonica protein kinase repeat instability region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10796 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14820 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10797 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46274849-46275406 Neighboring gene SIX homeobox 5 Neighboring gene DM1 locus antisense RNA Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46280233-46280966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14821 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14822 Neighboring gene DM1 locus, WD repeat containing Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10799 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46304143-46305004 Neighboring gene radial spoke head 6 homolog A Neighboring gene MED14-independent group 3 enhancer GRCh37_chr19:46313062-46314261

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report. Pezzoli F, et al. Acta Biomed, 2023 Mar 8. PMID 36883684
  2. High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1. Rasmussen A, et al. Genes (Basel), 2022 May 28. PMID 35741732, Free PMC Article
  3. DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients. Yanovsky-Dagan S, et al. Eur J Hum Genet, 2022 Aug. PMID 34776509, Free PMC Article
  4. DNA methylation at the DMPK gene locus is associated with cognitive functions in myotonic dystrophy type 1. Breton É, et al. Epigenomics, 2020 Dec. PMID 33301350
  5. DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies. Tomé S, et al. Int J Mol Sci, 2020 Jan 10. PMID 31936870, Free PMC Article

See all (175) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report.
    Title: Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report.
  2. DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients.
    Title: DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients.
  3. High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1.
    Title: High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1.
  4. 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.
  5. Reversible cardiac disease features in an inducible CUG repeat RNA-expressing mouse model of myotonic dystrophy.
    Title: Reversible cardiac disease features in an inducible CUG repeat RNA-expressing mouse model of myotonic dystrophy.
  6. DNA methylation at the DMPK gene locus is associated with cognitive functions in myotonic dystrophy type 1.
    Title: DNA methylation at the DMPK gene locus is associated with cognitive functions in myotonic dystrophy type 1.
  7. A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.
    Title: A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.
  8. Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test.
    Title: Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test.
  9. DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies.
    Title: DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies.
  10. Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes.
    Title: Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes.
Submit: New GeneRIF Correction See all GeneRIFs (102)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Steinert myotonic dystrophy syndrome
MedGen: C3250443 OMIM: 160900 GeneReviews: Myotonic Dystrophy Type 1
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: DMWD

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables myosin phosphatase regulator activity IDA
Inferred from Direct Assay
more info
 PubMed 
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 IDA
Inferred from Direct Assay
more info
 PubMed 
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 ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in muscle cell apoptotic process IDA
Inferred from Direct Assay
more info
 PubMed 
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 peptidyl-serine phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein phosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction IEA
Inferred from Electronic Annotation
more info
  
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 myotube differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of skeletal muscle contraction by calcium ion signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of sodium ion transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of synapse structural plasticity IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nuclear outer membrane IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in sarcoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in sarcoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
myotonin-protein kinase
Names
DM protein kinase
dystrophia myotonica protein kinase
myotonic dystrophy associated protein kinase
myotonin protein kinase A
thymopoietin homolog
NP_001075029.1
NP_001075031.1
NP_001075032.1
NP_001275693.1
NP_001275694.1
NP_001275695.1
NP_001411088.1
NP_001411089.1
NP_001411090.1
NP_001411091.1
NP_001411092.1
NP_001411093.1
NP_001411094.1
NP_001411095.1
NP_001411097.1
NP_001411098.1
NP_004400.4

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.

Genomic

  1. NG_009784.1 RefSeqGene

    Range
    5068..17841
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001081560.3 → NP_001075029.1  myotonin-protein kinase isoform 3

    See identical proteins and their annotated locations for NP_001075029.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences in the presence and absence of exons at its 5' end and in the CDS, compared to variant 1. These differences produce a distinct 5' UTR, cause translation initiation at an alternative start codon, and the loss of an in-frame portion of the coding region, compared to variant 1. The encoded protein (isoform 3, also known as isoform 11) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC011530, AV655848, BC062553, L19268
    Consensus CDS
    CCDS46118.1
    UniProtKB/TrEMBL
    B4DZE2, E5KR07
    Related
    ENSP00000413417.1, ENST00000447742.6
    Conserved Domains (2) summary
    pfam08826
    Location:465 → 525
    DMPK_coil; DMPK coiled coil domain like
    cd05597
    Location:69 → 401
    STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases

  2. NM_001081562.3 → NP_001075031.1  myotonin-protein kinase isoform 4

    See identical proteins and their annotated locations for NP_001075031.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has multiple differences in the presence and absence of exons at its 5' end and in the CDS, compared to variant 1. These differences produce a distinct 5' UTR, and cause translation initiation at an alternative start codon, the loss of an in-frame portion of the coding region and a frameshift in the 3' coding region, compared to variant 1. The encoded protein (isoform 4) has a distinct N-terminus and a unique C-terminus, and is shorter than isoform 1.
    Source sequence(s)
    AC011530, AV655848, BC062553, S72883
    Consensus CDS
    CCDS46117.1
    UniProtKB/TrEMBL
    B4DM55, E5KR05
    Related
    ENSP00000401753.1, ENST00000458663.6
    Conserved Domains (2) summary
    pfam08826
    Location:465 → 525
    DMPK_coil; DMPK coiled coil domain like
    cd05597
    Location:69 → 401
    STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases

  3. NM_001081563.2 → NP_001075032.1  myotonin-protein kinase isoform 1

    See identical proteins and their annotated locations for NP_001075032.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1), also known as Form I.
    Source sequence(s)
    AC011530, AC074212, AV655848, BC062553, M87312
    UniProtKB/TrEMBL
    X5DNJ6
    Related
    ENST00000682335.1
    Conserved Domains (3) summary
    pfam08826
    Location:480 → 540
    DMPK_coil; DMPK coiled coil domain like
    smart00220
    Location:81 → 349
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd05597
    Location:79 → 416
    STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases

  4. NM_001288764.2 → NP_001275693.1  myotonin-protein kinase isoform 5

    See identical proteins and their annotated locations for NP_001275693.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) 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 5) has a distinct N-terminus and is longer than isoform 1.
    Source sequence(s)
    AC011530, AC074212, BC026328
    UniProtKB/TrEMBL
    I6L989
    Conserved Domains (3) summary
    pfam08826
    Location:496 → 556
    DMPK_coil; DMPK coiled coil domain like
    smart00220
    Location:97 → 365
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd05597
    Location:95 → 432
    STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases

  5. NM_001288765.2 → NP_001275694.1  myotonin-protein kinase isoform 6

    See identical proteins and their annotated locations for NP_001275694.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) 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 6) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC011530, AK297299, BC026328, BG152972, DC420602, M94203
    UniProtKB/TrEMBL
    B4DM55
    Related
    ENST00000596686.5
    Conserved Domains (3) summary
    pfam08826
    Location:381 → 441
    DMPK_coil; DMPK coiled coil domain like
    smart00220
    Location:2 → 250
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl21453
    Location:1 → 317
    PKc_like; Protein Kinases, catalytic domain

  6. NM_001288766.2 → NP_001275695.1  myotonin-protein kinase isoform 7

    See identical proteins and their annotated locations for NP_001275695.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) 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, cause translation initiation at an alternative start codon, loss of an in-frame portion of the 3' coding region, and a frameshift in the 3' coding region, compared to variant 1. The encoded protein (isoform 7) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC074212, AK302874, BC026328, BP422066, BQ670576, HY031977
    Consensus CDS
    CCDS74400.1
    UniProtKB/TrEMBL
    B4DZE2
    Related
    ENSP00000346168.5, ENST00000354227.9
    Conserved Domains (2) summary
    pfam08826
    Location:465 → 525
    DMPK_coil; DMPK coiled coil domain like
    cd05597
    Location:69 → 401
    STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases

  7. NM_001424159.1 → NP_001411088.1  myotonin-protein kinase isoform 2

    Status: REVIEWED

    Source sequence(s)
    CP068259
    UniProtKB/Swiss-Prot
    E5KR08, Q09013, Q16205, Q6P5Z6
    UniProtKB/TrEMBL
    E5KR06

  8. NM_001424160.1 → NP_001411089.1  myotonin-protein kinase isoform 8

    Status: REVIEWED

    Source sequence(s)
    CP068259

  9. NM_001424161.1 → NP_001411090.1  myotonin-protein kinase isoform 7

    Status: REVIEWED

    Source sequence(s)
    CP068259

  10. NM_001424162.1 → NP_001411091.1  myotonin-protein kinase isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC011530, AC074212
    Related
    ENSP00000345997.4, ENST00000343373.10

  11. NM_001424163.1 → NP_001411092.1  myotonin-protein kinase isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC011530, AC074212

  12. NM_001424164.1 → NP_001411093.1  myotonin-protein kinase isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC011530, AC074212
    Related
    ENSP00000508381.1, ENST00000683086.1

  13. NM_001424165.1 → NP_001411094.1  myotonin-protein kinase isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC011530, AC074212

  14. NM_001424166.1 → NP_001411095.1  myotonin-protein kinase isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC011530, AC074212

  15. NM_001424168.1 → NP_001411097.1  myotonin-protein kinase isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC011530, AC074212

  16. NM_001424169.1 → NP_001411098.1  myotonin-protein kinase isoform 13

    Status: REVIEWED

    Source sequence(s)
    AC011530, AC074212

  17. NM_004409.5 → NP_004400.4  myotonin-protein kinase isoform 2

    See identical proteins and their annotated locations for NP_004400.4

    Status: REVIEWED

    Description
    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.
    Source sequence(s)
    AV655848, BC062553, BG706056
    Consensus CDS
    CCDS12674.1
    UniProtKB/Swiss-Prot
    E5KR08, Q09013, Q16205, Q6P5Z6
    UniProtKB/TrEMBL
    B4DZE2, E5KR06
    Related
    ENSP00000291270.4, ENST00000291270.9
    Conserved Domains (2) summary
    pfam08826
    Location:470 → 530
    DMPK_coil; DMPK coiled coil domain like
    cd05597
    Location:69 → 406
    STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    45769709..45782490 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    48597244..48609980 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q09013.3 GenPept UniProtKB/Swiss-Prot:Q09013

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