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DMPK DM1 protein kinase [ Homo sapiens (human) ]

Gene ID: 1760, updated on 4-Jan-2025

Summary

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
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Genomic context

See DMPK in Genome Data Viewer
Location:
19q13.32
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45769717..45782490, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (48597252..48609980, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (46272975..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

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

General gene information

Potential readthrough

Included gene: DMWD

Gene Ontology Provided by GOA

Items 1 - 25 of 27
Function Evidence Code Pubs
enables 3-phosphoinositide-dependent protein kinase activity  
enables AMP-activated protein kinase activity  
enables ATP binding PubMed 
enables DNA-dependent protein kinase activity  
enables Rho-dependent protein serine/threonine kinase activity  
enables eukaryotic translation initiation factor 2alpha kinase activity  
enables histone H2AS1 kinase activity  
enables histone H2AS121 kinase activity  
enables histone H2AT120 kinase activity  
enables histone H2AXS139 kinase activity  
enables histone H2BS14 kinase activity  
enables histone H2BS36 kinase activity  
enables histone H3S10 kinase activity  
enables histone H3S28 kinase activity  
enables histone H3S57 kinase activity  
enables histone H3T11 kinase activity  
enables histone H3T3 kinase activity  
enables histone H3T45 kinase activity  
enables histone H3T6 kinase activity  
enables histone H4S1 kinase activity  
enables metal ion binding  
enables myosin phosphatase regulator activity PubMed 
enables protein binding PubMed 
enables protein serine kinase activity  
enables protein serine/threonine kinase activity  
enables protein serine/threonine kinase activity PubMed 
enables ribosomal protein S6 kinase activity  
Items 1 - 25 of 27
Process Evidence Code Pubs
involved_in chromatin remodeling  
involved_in intracellular calcium ion homeostasis  
involved_in intracellular calcium ion homeostasis  
involved_in muscle cell apoptotic process PubMed 
involved_in nuclear envelope organization  
involved_in nuclear envelope organization PubMed 
involved_in protein phosphorylation PubMed 
involved_in regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction  
involved_in regulation of heart contraction  
involved_in regulation of heart contraction PubMed 
involved_in regulation of myotube differentiation  
involved_in regulation of skeletal muscle contraction by calcium ion signaling  
involved_in regulation of sodium ion transport  
involved_in regulation of synapse structural plasticity  
Component Evidence Code Pubs
located_in cytosol  
located_in endoplasmic reticulum membrane  
located_in mitochondrial outer membrane PubMed 
located_in nuclear membrane  
located_in nuclear outer membrane  
located_in plasma membrane  
located_in sarcoplasmic reticulum membrane  
located_in sarcoplasmic reticulum membrane  

General protein information

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_001081560.3NP_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:465525
    DMPK_coil; DMPK coiled coil domain like
    cd05597
    Location:69401
    STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases
  2. NM_001081562.3NP_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:465525
    DMPK_coil; DMPK coiled coil domain like
    cd05597
    Location:69401
    STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases
  3. NM_001081563.3NP_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
    UniProtKB/TrEMBL
    X5DNJ6
    Conserved Domains (3) summary
    pfam08826
    Location:480540
    DMPK_coil; DMPK coiled coil domain like
    smart00220
    Location:81349
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd05597
    Location:79416
    STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases
  4. NM_001288764.2NP_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:496556
    DMPK_coil; DMPK coiled coil domain like
    smart00220
    Location:97365
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd05597
    Location:95432
    STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases
  5. NM_001288765.2NP_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:381441
    DMPK_coil; DMPK coiled coil domain like
    smart00220
    Location:2250
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl21453
    Location:1317
    PKc_like; Protein Kinases, catalytic domain
  6. NM_001288766.2NP_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:465525
    DMPK_coil; DMPK coiled coil domain like
    cd05597
    Location:69401
    STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases
  7. NM_001424159.1NP_001411088.1  myotonin-protein kinase isoform 2

    Status: REVIEWED

    Source sequence(s)
    CP068259
    UniProtKB/Swiss-Prot
    E5KR08, Q09013, Q16205, Q6P5Z6
    UniProtKB/TrEMBL
    B4DZE2, E5KR06
  8. NM_001424160.1NP_001411089.1  myotonin-protein kinase isoform 8

    Status: REVIEWED

    Source sequence(s)
    CP068259
    UniProtKB/TrEMBL
    B4DZE2
  9. NM_001424161.1NP_001411090.1  myotonin-protein kinase isoform 7

    Status: REVIEWED

    Source sequence(s)
    CP068259
    UniProtKB/TrEMBL
    B4DZE2
  10. NM_001424162.1NP_001411091.1  myotonin-protein kinase isoform 14

    Status: REVIEWED

    Source sequence(s)
    AC011530, AC074212
    UniProtKB/TrEMBL
    B4DM55
    Related
    ENSP00000345997.4, ENST00000343373.10
  11. NM_001424163.1NP_001411092.1  myotonin-protein kinase isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC011530, AC074212
    UniProtKB/TrEMBL
    B4DM55
  12. NM_001424164.1NP_001411093.1  myotonin-protein kinase isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC011530, AC074212
    UniProtKB/TrEMBL
    B4DZE2
    Related
    ENSP00000508381.1, ENST00000683086.1
  13. NM_001424165.1NP_001411094.1  myotonin-protein kinase isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC011530, AC074212
    UniProtKB/TrEMBL
    B4DZE2
  14. NM_001424166.1NP_001411095.1  myotonin-protein kinase isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC011530, AC074212
    UniProtKB/TrEMBL
    B4DM55
  15. NM_001424168.1NP_001411097.1  myotonin-protein kinase isoform 15

    Status: REVIEWED

    Source sequence(s)
    AC011530, AC074212
    UniProtKB/TrEMBL
    B4DZE2
  16. NM_001424169.1NP_001411098.1  myotonin-protein kinase isoform 13

    Status: REVIEWED

    Source sequence(s)
    AC011530, AC074212
    UniProtKB/TrEMBL
    B4DZE2
  17. NM_004409.5NP_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:470530
    DMPK_coil; DMPK coiled coil domain like
    cd05597
    Location:69406
    STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    45769717..45782490 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    48597252..48609980 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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