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    DMPK dystrophia myotonica protein kinase [ Homo sapiens (human) ]

    Gene ID: 1760, updated on 9-Jul-2016
    Official Symbol
    DMPKprovided by HGNC
    Official Full Name
    dystrophia myotonica protein kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:2933
    See related
    Ensembl:ENSG00000104936 HPRD:05645; MIM:605377; Vega:OTTHUMG00000182334
    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]
    Orthologs
    Location:
    19q13.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (45769709..45782557, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (46272975..46285815, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene basic helix-loop-helix and HMG-box containing 1 Neighboring gene SIX homeobox 5 Neighboring gene dystrophia myotonica, WD repeat containing Neighboring gene radial spoke head 6 homolog A

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Cardiac conduction, organism-specific biosystem (from REACTOME)
      Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
    • Ion homeostasis, organism-specific biosystem (from REACTOME)
      Ion homeostasis, organism-specific biosystemIon channel homeostasis in relation to cardiac conduction is described in this section (Couette et al. 2006, Bartos et al. 2015).
    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Potential readthrough

    Included gene: DMWD

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    heat shock protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    myosin phosphatase regulator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    cellular calcium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cellular calcium ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    muscle cell apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear envelope organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peptidyl-serine phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cardiac conduction TAS
    Traceable Author Statement
    more info
     
    regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of heart contraction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of myotube differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of skeletal muscle contraction by calcium ion signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of sodium ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of synapse structural plasticity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    integral component of mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nuclear membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nuclear outer membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sarcoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    sarcoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sarcoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    myotonin-protein kinase
    Names
    DM protein kinase
    DM1 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_004400.4

    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
      5001..17849
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001081560.2NP_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, AC074212, AV655848, BC062553, L19268
      Consensus CDS
      CCDS46118.1
      UniProtKB/Swiss-Prot
      Q09013
      UniProtKB/TrEMBL
      E5KR07
      Related
      ENSP00000413417, OTTHUMP00000268968, ENST00000447742, OTTHUMT00000460575
      Conserved Domains (3) summary
      pfam08826
      Location:465525
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:71339
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd05597
      Location:69401
      STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases
    2. NM_001081562.2NP_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, AC074212, AV655848, BC062553, S72883
      Consensus CDS
      CCDS46117.1
      UniProtKB/Swiss-Prot
      Q09013
      UniProtKB/TrEMBL
      E5KR05
      Related
      ENSP00000401753, OTTHUMP00000268969, ENST00000458663, OTTHUMT00000460576
      Conserved Domains (3) summary
      pfam08826
      Location:465525
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:71339
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd05597
      Location:69401
      STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases
    3. NM_001081563.2NP_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
      Consensus CDS
      CCDS46119.1
      UniProtKB/Swiss-Prot
      Q09013
      Related
      ENSP00000345997, OTTHUMP00000269417, ENST00000343373, OTTHUMT00000461638
      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_001288764.1NP_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, BG706056
      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_001288765.1NP_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, AC074212, AK297299, BC026328, BG152972, DC420602, M94203
      UniProtKB/Swiss-Prot
      Q09013
      UniProtKB/TrEMBL
      B4DM55, I6L989
      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_001288766.1NP_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)
      AC011530, AC074212, AK302874, BC026328, BP422066, BQ670576, HY031977
      Consensus CDS
      CCDS74400.1
      UniProtKB/TrEMBL
      B4DZE2, I6L989
      Related
      ENSP00000346168, OTTHUMP00000268970, ENST00000354227, OTTHUMT00000460577
      Conserved Domains (3) summary
      pfam08826
      Location:465525
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:71339
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd05597
      Location:69401
      STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases
    7. NM_004409.4NP_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)
      AC011530, AC074212, AV655848, BC062553, BG706056
      Consensus CDS
      CCDS12674.1
      UniProtKB/Swiss-Prot
      Q09013
      UniProtKB/TrEMBL
      E5KR06
      Related
      ENSP00000291270, OTTHUMP00000268966, ENST00000291270, OTTHUMT00000460572
      Conserved Domains (3) summary
      pfam08826
      Location:470530
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:71339
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd05597
      Location:69406
      STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      45769709..45782557 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      46276481..46288326 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)