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

Gene ID: 1760, updated on 22-May-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 5-37 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 2008]
Orthologs
Location:
19q13.3
Exon count:
16
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 F-box protein 46 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 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p2 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)