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DMPK

GENERAL INFORMATION

Gene name

 DMPK

Gene description

 Dystrophia myotonica-protein kinase

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

 Intracellular,Membrane

Number of transcripts

 10
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Mixed

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression mainly in CNS and muscle tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. External characterization data supports antibody staining.

Reliability score

 Supported based on 2 antibodies.
HPA007164 , HPA008905
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Skeletal muscle

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed

GENE INFORMATION

Gene name

 DMPK (HGNC Symbol)

Synonyms

 DM, DM1, DM1PK, DMK, MDPK, MT-PK

Description

 Dystrophia myotonica-protein kinase (HGNC Symbol)

Entrez gene 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]

Chromosome

 19

Cytoband

 q13.32

Chromosome location (bp)

 45769717 - 45782552

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000104936 (version 83.38)

Entrez gene

 1760

UniProt

 Q09013 (UniProt - Evidence at protein level)

neXtProt

 NX_Q09013

Antibodypedia

 DMPK antibodies

PROTEIN BROWSER
DMPK-001
DMPK-003
DMPK-004
DMPK-005
DMPK-007
DMPK-008
DMPK-012
DMPK-019
DMPK-020
DMPK-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
DMPK-001
ENSP00000413417
ENST00000447742
Q09013 [Direct mapping]
Myotonin-protein kinase
E5KR07 [Target identity:100%; Query identity:100%]
Dystrophia myotonica-protein kinase, isoform CRA_f; Myotonin-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
Protein evidence (Kim et al 2014)
Show all
GO:0004672 [protein kinase activity]
GO:0004674 [protein serine/threonine kinase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005640 [nuclear outer membrane]
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:0017020 [myosin phosphatase regulator activity]
GO:0018105 [peptidyl-serine phosphorylation]
GO:0031307 [integral component of mitochondrial outer membrane]
GO:0031965 [nuclear membrane]
GO:0033017 [sarcoplasmic reticulum membrane]
GO:0046872 [metal ion binding]
GO:0050790 [regulation of catalytic activity]
Show all
 624 aa
69 kDa 		No 1
DMPK-003
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
Disease related genes
Potential drug targets
Show all
GO:0004672 [protein kinase activity]
GO:0004674 [protein serine/threonine kinase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005640 [nuclear outer membrane]
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:0017020 [myosin phosphatase regulator activity]
GO:0018105 [peptidyl-serine phosphorylation]
GO:0031307 [integral component of mitochondrial outer membrane]
GO:0031965 [nuclear membrane]
GO:0033017 [sarcoplasmic reticulum membrane]
GO:0046872 [metal ion binding]
GO:0050790 [regulation of catalytic activity]
Show all
 530 aa
59.4 kDa 		No 0
DMPK-004
ENSP00000291270
ENST00000291270
Q09013 [Direct mapping]
Myotonin-protein kinase
E5KR06 [Target identity:100%; Query identity:100%]
Myotonin-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
Protein evidence (Kim et al 2014)
Show all
GO:0004672 [protein kinase activity]
GO:0004674 [protein serine/threonine kinase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005640 [nuclear outer membrane]
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:0017020 [myosin phosphatase regulator activity]
GO:0018105 [peptidyl-serine phosphorylation]
GO:0031307 [integral component of mitochondrial outer membrane]
GO:0031965 [nuclear membrane]
GO:0033017 [sarcoplasmic reticulum membrane]
GO:0046872 [metal ion binding]
GO:0050790 [regulation of catalytic activity]
Show all
 629 aa
69.4 kDa 		No 1
DMPK-005
ENSP00000401753
ENST00000458663
Q09013 [Direct mapping]
Myotonin-protein kinase
E5KR05 [Target identity:100%; Query identity:100%]
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
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Show all
GO:0004672 [protein kinase activity]
GO:0004674 [protein serine/threonine kinase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005640 [nuclear outer membrane]
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:0017020 [myosin phosphatase regulator activity]
GO:0018105 [peptidyl-serine phosphorylation]
GO:0031307 [integral component of mitochondrial outer membrane]
GO:0031965 [nuclear membrane]
GO:0033017 [sarcoplasmic reticulum membrane]
GO:0046872 [metal ion binding]
GO:0050790 [regulation of catalytic activity]
Show all
 625 aa
69.6 kDa 		No 0
DMPK-007
ENSP00000472965
ENST00000600757
M0R333 [Direct mapping]
Myotonin-protein kinase
Show all
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Show all
GO:0004672 [protein kinase activity]
GO:0004674 [protein serine/threonine kinase activity]
GO:0005524 [ATP binding]
GO:0006468 [protein phosphorylation]
Show all
 635 aa
70.6 kDa 		No 0
DMPK-008
ENSP00000345997
ENST00000343373
Q09013 [Direct mapping]
Myotonin-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
Protein evidence (Kim et al 2014)
Show all
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:0005640 [nuclear outer membrane]
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:0017020 [myosin phosphatase regulator activity]
GO:0018105 [peptidyl-serine phosphorylation]
GO:0031072 [heat shock protein binding]
GO:0031307 [integral component of mitochondrial outer membrane]
GO:0031965 [nuclear membrane]
GO:0033017 [sarcoplasmic reticulum membrane]
GO:0046872 [metal ion binding]
GO:0050790 [regulation of catalytic activity]
GO:0051823 [regulation of synapse structural plasticity]
Show all
 639 aa
70.4 kDa 		No 1
DMPK-012
ENSP00000470192
ENST00000596067
M0QZ00 [Direct mapping]
Myotonin-protein kinase
Show all
Predicted intracellular proteins
Show all
GO:0004672 [protein kinase activity]
GO:0005524 [ATP binding]
GO:0006468 [protein phosphorylation]
Show all
 125 aa
14.5 kDa 		No 0
DMPK-019
ENSP00000469220
ENST00000593574
M0QXJ9 [Direct mapping]
Myotonin-protein kinase
Show all
Predicted intracellular proteins
Show all
GO:0004674 [protein serine/threonine kinase activity]
GO:0005524 [ATP binding]
GO:0006468 [protein phosphorylation]
Show all
 183 aa
19.1 kDa 		No 0
DMPK-020
ENSP00000471832
ENST00000597660
M0R1F3 [Direct mapping]
Myotonin-protein kinase
Show all
Predicted intracellular proteins
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-201
ENSP00000482746
ENST00000618091
Q09013 [Direct mapping]
Myotonin-protein kinase
E5KR05 [Target identity:100%; Query identity:100%]
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
Disease related genes
Potential drug targets
Show all
GO:0004672 [protein kinase activity]
GO:0004674 [protein serine/threonine kinase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005640 [nuclear outer membrane]
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:0017020 [myosin phosphatase regulator activity]
GO:0018105 [peptidyl-serine phosphorylation]
GO:0031307 [integral component of mitochondrial outer membrane]
GO:0031965 [nuclear membrane]
GO:0033017 [sarcoplasmic reticulum membrane]
GO:0046872 [metal ion binding]
GO:0050790 [regulation of catalytic activity]
Show all
 625 aa
69.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.