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DMPK
HPA
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  • DMPK
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

DMPK
Synonyms DM, DM1, DM1PK, DMK, MDPK, MT-PK
Gene descriptioni

Full gene name according to HGNC.

DM1 protein kinase
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Enzymes
Human disease related genes
Potential drug targets
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Membrane, Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 19
Cytoband q13.32
Chromosome location (bp) 45769709 - 45782552
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

8
Ensembl ENSG00000104936 (version 109)
Entrez gene 1760
HGNC HGNC:2933
UniProt Q09013 (UniProt - Evidence at protein level)
neXtProt NX_Q09013
GeneCards DMPK
Antibodypedia DMPK antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Non-receptor serine/threonine protein kinase which is necessary for the maintenance of skeletal muscle structure and function. May play a role in myocyte differentiation and survival by regulating the integrity of the nuclear envelope and the expression of muscle-specific genes. May also phosphorylate PPP1R12A and inhibit the myosin phosphatase activity to regulate myosin phosphorylation. Also critical to the modulation of cardiac contractility and to the maintenance of proper cardiac conduction activity probably through the regulation of cellular calcium homeostasis. Phosphorylates PLN, a regulator of calcium pumps and may regulate sarcoplasmic reticulum calcium uptake in myocytes. May also phosphorylate FXYD1/PLM which is able to induce chloride currents. May also play a role in synaptic plasticity.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Kinase, Serine/threonine-protein kinase, Transferase
Ligand (UniProt)i

Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.

ATP-binding, Magnesium, Metal-binding, Nucleotide-binding
Gene summary (Entrez)i

Useful information about the gene from Entrez

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]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
DMPK-201
ENSP00000291270
ENST00000291270
Q09013
[Direct mapping] Myotonin-protein kinase
Show all
E5KR06
[Target identity:100%; Query identity:100%] Non-specific serine/threonine protein kinase
Show all
Enzymes
   ENZYME proteins
   Transferases
   Kinases
   AGC Ser/Thr protein kinases
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Potential drug targets
Human disease related genes
   Musculoskeletal diseases
   Muscular diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0002028 [regulation of sodium ion transport]
GO:0004672 [protein kinase activity]
GO:0004674 [protein serine/threonine kinase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005640 [nuclear outer membrane]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005741 [mitochondrial outer membrane]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006468 [protein phosphorylation]
GO:0006874 [cellular calcium ion homeostasis]
GO:0006998 [nuclear envelope organization]
GO:0008016 [regulation of heart contraction]
GO:0010657 [muscle cell apoptotic process]
GO:0010830 [regulation of myotube differentiation]
GO:0014722 [regulation of skeletal muscle contraction by calcium ion signaling]
GO:0014853 [regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction]
GO:0016020 [membrane]
GO:0016301 [kinase activity]
GO:0016310 [phosphorylation]
GO:0016529 [sarcoplasmic reticulum]
GO:0016740 [transferase activity]
GO:0017020 [myosin phosphatase regulator activity]
GO:0018105 [peptidyl-serine phosphorylation]
GO:0031965 [nuclear membrane]
GO:0031966 [mitochondrial membrane]
GO:0033017 [sarcoplasmic reticulum membrane]
GO:0035556 [intracellular signal transduction]
GO:0046872 [metal ion binding]
GO:0051823 [regulation of synapse structural plasticity]
GO:0106310 [protein serine kinase activity]
Show all
629 aa
69.4 kDa
No 1
DMPK-202
ENSP00000345997
ENST00000343373
Q09013
[Direct mapping] Myotonin-protein kinase
Show all
Enzymes
   ENZYME proteins
   Transferases
   Kinases
   AGC Ser/Thr protein kinases
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Potential drug targets
Human disease related genes
   Musculoskeletal diseases
   Muscular diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0000166 [nucleotide binding]
GO:0004672 [protein kinase activity]
GO:0004674 [protein serine/threonine kinase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005640 [nuclear outer membrane]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005741 [mitochondrial outer membrane]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006468 [protein phosphorylation]
GO:0006874 [cellular calcium ion homeostasis]
GO:0006998 [nuclear envelope organization]
GO:0008016 [regulation of heart contraction]
GO:0010657 [muscle cell apoptotic process]
GO:0010830 [regulation of myotube differentiation]
GO:0014722 [regulation of skeletal muscle contraction by calcium ion signaling]
GO:0016020 [membrane]
GO:0016301 [kinase activity]
GO:0016310 [phosphorylation]
GO:0016529 [sarcoplasmic reticulum]
GO:0016740 [transferase activity]
GO:0017020 [myosin phosphatase regulator activity]
GO:0018105 [peptidyl-serine phosphorylation]
GO:0031965 [nuclear membrane]
GO:0031966 [mitochondrial membrane]
GO:0033017 [sarcoplasmic reticulum membrane]
GO:0035556 [intracellular signal transduction]
GO:0046872 [metal ion binding]
GO:0106310 [protein serine kinase activity]
Show all
630 aa
69.9 kDa
No 0
DMPK-203
ENSP00000346168
ENST00000354227
Q09013
[Direct mapping] Myotonin-protein kinase
Show all
Enzymes
   ENZYME proteins
   Transferases
   Kinases
   AGC Ser/Thr protein kinases
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Potential drug targets
Human disease related genes
   Musculoskeletal diseases
   Muscular diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0000166 [nucleotide binding]
GO:0004672 [protein kinase activity]
GO:0004674 [protein serine/threonine kinase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005640 [nuclear outer membrane]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005741 [mitochondrial outer membrane]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006468 [protein phosphorylation]
GO:0006874 [cellular calcium ion homeostasis]
GO:0006998 [nuclear envelope organization]
GO:0008016 [regulation of heart contraction]
GO:0010657 [muscle cell apoptotic process]
GO:0010830 [regulation of myotube differentiation]
GO:0014722 [regulation of skeletal muscle contraction by calcium ion signaling]
GO:0016020 [membrane]
GO:0016301 [kinase activity]
GO:0016310 [phosphorylation]
GO:0016529 [sarcoplasmic reticulum]
GO:0016740 [transferase activity]
GO:0017020 [myosin phosphatase regulator activity]
GO:0018105 [peptidyl-serine phosphorylation]
GO:0031965 [nuclear membrane]
GO:0031966 [mitochondrial membrane]
GO:0033017 [sarcoplasmic reticulum membrane]
GO:0035556 [intracellular signal transduction]
GO:0046872 [metal ion binding]
GO:0106310 [protein serine kinase activity]
Show all
530 aa
59.4 kDa
No 0
DMPK-204
ENSP00000413417
ENST00000447742
Q09013
[Direct mapping] Myotonin-protein kinase
Show all
E5KR07
[Target identity:100%; Query identity:100%] Non-specific serine/threonine protein kinase
Show all
Enzymes
   ENZYME proteins
   Transferases
   Kinases
   AGC Ser/Thr protein kinases
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Potential drug targets
Human disease related genes
   Musculoskeletal diseases
   Muscular diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0004672 [protein kinase activity]
GO:0004674 [protein serine/threonine kinase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005640 [nuclear outer membrane]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005741 [mitochondrial outer membrane]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006468 [protein phosphorylation]
GO:0006874 [cellular calcium ion homeostasis]
GO:0006998 [nuclear envelope organization]
GO:0008016 [regulation of heart contraction]
GO:0010657 [muscle cell apoptotic process]
GO:0010830 [regulation of myotube differentiation]
GO:0014722 [regulation of skeletal muscle contraction by calcium ion signaling]
GO:0016020 [membrane]
GO:0016301 [kinase activity]
GO:0016310 [phosphorylation]
GO:0016529 [sarcoplasmic reticulum]
GO:0016740 [transferase activity]
GO:0017020 [myosin phosphatase regulator activity]
GO:0018105 [peptidyl-serine phosphorylation]
GO:0031965 [nuclear membrane]
GO:0031966 [mitochondrial membrane]
GO:0033017 [sarcoplasmic reticulum membrane]
GO:0035556 [intracellular signal transduction]
GO:0046872 [metal ion binding]
GO:0106310 [protein serine kinase activity]
Show all
624 aa
69 kDa
No 1
DMPK-205
ENSP00000401753
ENST00000458663
Q09013
[Direct mapping] Myotonin-protein kinase
Show all
E5KR05
[Target identity:100%; Query identity:100%] Non-specific serine/threonine protein kinase
Show all
Enzymes
   ENZYME proteins
   Transferases
   Kinases
   AGC Ser/Thr protein kinases
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Potential drug targets
Human disease related genes
   Musculoskeletal diseases
   Muscular diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0004672 [protein kinase activity]
GO:0004674 [protein serine/threonine kinase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005640 [nuclear outer membrane]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005741 [mitochondrial outer membrane]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006468 [protein phosphorylation]
GO:0006874 [cellular calcium ion homeostasis]
GO:0006998 [nuclear envelope organization]
GO:0008016 [regulation of heart contraction]
GO:0010657 [muscle cell apoptotic process]
GO:0010830 [regulation of myotube differentiation]
GO:0014722 [regulation of skeletal muscle contraction by calcium ion signaling]
GO:0016020 [membrane]
GO:0016301 [kinase activity]
GO:0016310 [phosphorylation]
GO:0016529 [sarcoplasmic reticulum]
GO:0016740 [transferase activity]
GO:0017020 [myosin phosphatase regulator activity]
GO:0018105 [peptidyl-serine phosphorylation]
GO:0031965 [nuclear membrane]
GO:0031966 [mitochondrial membrane]
GO:0033017 [sarcoplasmic reticulum membrane]
GO:0035556 [intracellular signal transduction]
GO:0046872 [metal ion binding]
GO:0106310 [protein serine kinase activity]
Show all
625 aa
69.6 kDa
No 0
DMPK-207
ENSP00000469220
ENST00000593574
M0QXJ9
[Direct mapping] Myotonin-protein kinase
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Musculoskeletal diseases
   Muscular diseases
Show all
GO:0000166 [nucleotide binding]
GO:0004674 [protein serine/threonine kinase activity]
GO:0005524 [ATP binding]
GO:0006468 [protein phosphorylation]
GO:0016301 [kinase activity]
GO:0016310 [phosphorylation]
GO:0016740 [transferase activity]
Show all
183 aa
19.1 kDa
No 0
DMPK-212
ENSP00000471832
ENST00000597660
M0R1F3
[Direct mapping] Non-specific serine/threonine protein kinase
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Musculoskeletal diseases
   Muscular diseases
Show all
GO:0004674 [protein serine/threonine kinase activity]
GO:0005524 [ATP binding]
GO:0006468 [protein phosphorylation]
Show all
188 aa
20.6 kDa
No 0
DMPK-228
ENSP00000508381
ENST00000683086
Q09013
[Direct mapping] Myotonin-protein kinase
Show all
Enzymes
   ENZYME proteins
   Transferases
   Kinases
   AGC Ser/Thr protein kinases
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Potential drug targets
Human disease related genes
   Musculoskeletal diseases
   Muscular diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0000166 [nucleotide binding]
GO:0004672 [protein kinase activity]
GO:0004674 [protein serine/threonine kinase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005640 [nuclear outer membrane]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005741 [mitochondrial outer membrane]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006468 [protein phosphorylation]
GO:0006874 [cellular calcium ion homeostasis]
GO:0006998 [nuclear envelope organization]
GO:0008016 [regulation of heart contraction]
GO:0010657 [muscle cell apoptotic process]
GO:0010830 [regulation of myotube differentiation]
GO:0014722 [regulation of skeletal muscle contraction by calcium ion signaling]
GO:0016020 [membrane]
GO:0016301 [kinase activity]
GO:0016310 [phosphorylation]
GO:0016529 [sarcoplasmic reticulum]
GO:0016740 [transferase activity]
GO:0017020 [myosin phosphatase regulator activity]
GO:0018105 [peptidyl-serine phosphorylation]
GO:0031965 [nuclear membrane]
GO:0031966 [mitochondrial membrane]
GO:0033017 [sarcoplasmic reticulum membrane]
GO:0035556 [intracellular signal transduction]
GO:0046872 [metal ion binding]
GO:0106310 [protein serine kinase activity]
Show all
535 aa
59.8 kDa
No 0

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