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Aliases for DMPK Gene

Aliases for DMPK Gene

  • Dystrophia Myotonica-Protein Kinase 2 3
  • DMK 3 4 6
  • Myotonic Dystrophy Associated Protein Kinase 2 3
  • Myotonin Protein Kinase A 2 3
  • Thymopoietin Homolog 2 3
  • DM1 Protein Kinase 3 4
  • DM Protein Kinase 2 3
  • EC 2.7.11.1 4 63
  • DM1PK 3 4
  • MT-PK 3 4
  • MDPK 3 4
  • DM 3 6
  • Dystrophia Myotonica 1 (Includes Dystrophia Myotonia Protein Kinase) 2
  • Myotonic Dystrophy Protein Kinase 4
  • Myotonin-Protein Kinase 3
  • Dystrophia Myotonica 1 2
  • DM-Kinase 4
  • DM1 3

External Ids for DMPK Gene

Previous Symbols for DMPK Gene

  • DM1
  • DM

Summaries for DMPK Gene

Entrez Gene Summary for DMPK Gene

  • 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]

GeneCards Summary for DMPK Gene

DMPK (Dystrophia Myotonica-Protein Kinase) is a Protein Coding gene. Diseases associated with DMPK include myotonic dystrophy 1 and myotonic dystrophy. Among its related pathways are G-protein signaling RAC1 in cellular process. GO annotations related to this gene include protein serine/threonine kinase activity and myosin phosphatase regulator activity. An important paralog of this gene is STK38L.

UniProtKB/Swiss-Prot for DMPK Gene

  • 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.

Gene Wiki entry for DMPK Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DMPK Gene

Genomics for DMPK Gene

Genomic Location for DMPK Gene

Start:
45,769,709 bp from pter
End:
45,782,557 bp from pter
Size:
12,849 bases
Orientation:
Minus strand

Genomic View for DMPK Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DMPK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DMPK Gene

Regulatory Elements for DMPK Gene

Proteins for DMPK Gene

  • Protein details for DMPK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q09013-DMPK_HUMAN
    Recommended name:
    Myotonin-protein kinase
    Protein Accession:
    Q09013
    Secondary Accessions:
    • E5KR08
    • Q16205
    • Q6P5Z6

    Protein attributes for DMPK Gene

    Size:
    629 amino acids
    Molecular mass:
    69385 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer; homodimerization stimulates the kinase activity. Interacts with HSPB2; may enhance DMPK kinase activity. Interacts with PLN; phosphorylates PLN. May interact with RAC1; may regulate DMPK kinase activity. Interacts with LMNA; may regulate nuclear envelope stability.
    SequenceCaution:
    • Sequence=AAA64884.1; Type=Frameshift; Positions=56, 555, 568; Evidence={ECO:0000305}; Sequence=AAA87583.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DMPK Gene

    Alternative splice isoforms for DMPK Gene

neXtProt entry for DMPK Gene

Proteomics data for DMPK Gene at MOPED

Selected DME Specific Peptides for DMPK Gene

Post-translational modifications for DMPK Gene

  • Phosphorylated. Autophosphorylates. Phosphorylation by RAF1 may result in activation of DMPK.
  • Proteolytic processing of the C-terminus may remove the transmembrane domain and release the kinase from membranes stimulating its activity.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys229

Domains for DMPK Gene

Suggested Antigen Peptide Sequences for DMPK Gene

Graphical View of Domain Structure for InterPro Entry

Q09013

UniProtKB/Swiss-Prot:

DMPK_HUMAN
Domain:
  • The coiled coil domain is required for homodimerization and regulates the enzymatic activity:
    • Q09013
  • Contains 1 AGC-kinase C-terminal domain.:
    • Q09013
  • Contains 1 protein kinase domain.:
    • Q09013
Family:
  • Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. DMPK subfamily.:
    • Q09013
genes like me logo Genes that share domains with DMPK: view

Function for DMPK Gene

Molecular function for DMPK Gene

GENATLAS Biochemistry: myotonin protein kinase,72kDa (DMR-B15 homolog) modulator of the Ca++ homeostasis in skeletal muscle cells presenting a replication discrepancy between the normal and the mutant allele in cells with the CTG repeat expansion,involved in the organization of sarcoplasmic reticulum in skeletal muscle,binding and activated by HSPB2
UniProtKB/Swiss-Prot CatalyticActivity: ATP + a protein = ADP + a phosphoprotein
UniProtKB/Swiss-Prot EnzymeRegulation: Coiled-coil-mediated oligomerization enhances the catalytic activity. Proteolytic processing of the C-terminus may release the protein from membranes and constitute a mean to regulate the enzyme. May be regulated by HSPB2, RAC1, RAF1 and G-protein second messengers.
UniProtKB/Swiss-Prot Function: 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.

Enzyme Numbers (IUBMB) for DMPK Gene

Gene Ontology (GO) - Molecular Function for DMPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity --
GO:0004674 protein serine/threonine kinase activity IDA 10913253
GO:0004713 protein tyrosine kinase activity --
GO:0005515 protein binding IPI 15598648
GO:0005524 ATP binding IDA 10913253
genes like me logo Genes that share ontologies with DMPK: view
genes like me logo Genes that share phenotypes with DMPK: view

Animal Models for DMPK Gene

MGI Knock Outs for DMPK:

miRNA for DMPK Gene

miRTarBase miRNAs that target DMPK

No data available for Transcription Factor Targeting and HOMER Transcription for DMPK Gene

Localization for DMPK Gene

Subcellular locations from UniProtKB/Swiss-Prot for DMPK Gene

Endoplasmic reticulum membrane; Single-pass type IV membrane protein; Cytoplasmic side. Nucleus outer membrane; Single-pass type IV membrane protein; Cytoplasmic side. Mitochondrion outer membrane; Single-pass type IV membrane protein. Sarcoplasmic reticulum membrane. Cell membrane. Cytoplasm, cytosol. Note=Localizes to sarcoplasmic reticulum membranes of cardiomyocytes. {ECO:0000250}.
Isoform 1: Mitochondrion membrane.
Isoform 3: Mitochondrion membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DMPK Gene COMPARTMENTS Subcellular localization image for DMPK gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 5
nucleus 5
cytosol 4
plasma membrane 4
cytoskeleton 1
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for DMPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005640 nuclear outer membrane IEA --
GO:0005789 endoplasmic reticulum membrane ISS --
GO:0005829 cytosol ISS --
GO:0005886 plasma membrane ISS --
GO:0031307 integral component of mitochondrial outer membrane IDA 15684391
genes like me logo Genes that share ontologies with DMPK: view

Pathways for DMPK Gene

genes like me logo Genes that share pathways with DMPK: view

Pathways by source for DMPK Gene

1 GeneGo (Thomson Reuters) pathway for DMPK Gene

Gene Ontology (GO) - Biological Process for DMPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002028 regulation of sodium ion transport IEA --
GO:0006468 protein phosphorylation IDA 10913253
GO:0006874 cellular calcium ion homeostasis ISS --
GO:0006998 nuclear envelope organization IMP 21949239
GO:0008016 regulation of heart contraction IDA 15598648
genes like me logo Genes that share ontologies with DMPK: view

Compounds for DMPK Gene

(3) HMDB Compounds for DMPK Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Magnesium
  • Magnesium
7439-95-4

(1) Drugbank Compounds for DMPK Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
3-[1-(3-Aminopropyl)-1h-Indol-3-Yl]-4-(1-Methyl-1h-Indol-3-Yl)-1h-Pyrrole-2,5-Dione
target

(18) Novoseek inferred chemical compound relationships for DMPK Gene

Compound -log(P) Hits PubMed IDs
threonine 44.9 10
serine 31.9 10
hinfi 31.6 3
chloride 17.8 4
agarose 11.3 1
genes like me logo Genes that share compounds with DMPK: view

Transcripts for DMPK Gene

Unigene Clusters for DMPK Gene

Dystrophia myotonica-protein kinase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DMPK Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^
SP1: - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - -
SP5: - - - - -
SP6: - - - -
SP7: -
SP8:
SP9:
SP10:

ExUns: 15 ^ 16a · 16b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10:

Relevant External Links for DMPK Gene

GeneLoc Exon Structure for
DMPK
ECgene alternative splicing isoforms for
DMPK

Expression for DMPK Gene

mRNA expression in normal human tissues for DMPK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for DMPK Gene

SOURCE GeneReport for Unigene cluster for DMPK Gene Hs.631596

mRNA Expression by UniProt/SwissProt for DMPK Gene

Q09013-DMPK_HUMAN
Tissue specificity: Most isoforms are expressed in many tissues including heart, skeletal muscle, liver and brain, except for isoform 2 which is only found in the heart and skeletal muscle, and isoform 14 which is only found in the brain, with high levels in the striatum, cerebellar cortex and pons.
genes like me logo Genes that share expressions with DMPK: view

No data available for mRNA differential expression in normal tissues for DMPK Gene

Orthologs for DMPK Gene

This gene was present in the common ancestor of animals.

Orthologs for DMPK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DMPK 35
  • 99.84 (n)
  • 100 (a)
DMPK 36
  • 87 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DMPK 35
  • 90.16 (n)
  • 90.7 (a)
DMPK 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DMPK 35
  • 89.48 (n)
  • 89.58 (a)
DMPK 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dmpk 35
  • 86.32 (n)
  • 86.22 (a)
Dmpk 16
Dmpk 36
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DMPK 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DMPK 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dmpk 35
  • 85.86 (n)
  • 86.63 (a)
lizard
(Anolis carolinensis)
Reptilia DMPK 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dmpk 35
  • 56.35 (n)
  • 54.76 (a)
zebrafish
(Danio rerio)
Actinopterygii DMPK 36
  • 74 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta gek 36
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mrck-1 36
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2297 36
  • 14 (a)
OneToMany
Species with no ortholog for DMPK:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DMPK Gene

ENSEMBL:
Gene Tree for DMPK (if available)
TreeFam:
Gene Tree for DMPK (if available)

Paralogs for DMPK Gene

genes like me logo Genes that share paralogs with DMPK: view

Variants for DMPK Gene

Sequence variations from dbSNP and Humsavar for DMPK Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs16939 -- 45,772,798(+) TGATT(A/C)TCTGG intron-variant
rs498916 -- 45,771,935(-) CCCCA(C/T)ACACA intron-variant
rs499726 -- 45,771,987(-) CAGTG(C/T)CCAAG intron-variant
rs517300 -- 45,780,675(+) gaggg(A/T)tgggt intron-variant, upstream-variant-2KB
rs522004 -- 45,781,211(+) CACAG(A/C/G)CCAAA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for DMPK Gene

Variant ID Type Subtype PubMed ID
dgv3954n71 CNV Loss 21882294
dgv3955n71 CNV Loss 21882294
nsv912166 CNV Loss 21882294
dgv3956n71 CNV Loss 21882294
dgv3957n71 CNV Loss 21882294
nsv912170 CNV Loss 21882294
esv2718635 CNV Deletion 23290073
esv2718636 CNV Deletion 23290073
esv2718637 CNV Deletion 23290073
esv2718638 CNV Deletion 23290073
esv2718639 CNV Deletion 23290073
esv2465515 CNV Deletion 19546169
esv2718641 CNV Deletion 23290073
nsv512584 CNV Loss 21212237
nsv828566 CNV Gain 20364138

Relevant External Links for DMPK Gene

HapMap Linkage Disequilibrium report
DMPK
Human Gene Mutation Database (HGMD)
DMPK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DMPK Gene

Disorders for DMPK Gene

(1) OMIM Diseases for DMPK Gene (605377)

UniProtKB/Swiss-Prot

DMPK_HUMAN
  • Dystrophia myotonica 1 (DM1) [MIM:160900]: A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias. {ECO:0000269 PubMed:1302022, ECO:0000269 PubMed:1310900, ECO:0000269 PubMed:1546326, ECO:0000269 PubMed:19514047}. Note=The disease is caused by mutations affecting the gene represented in this entry. The causative mutation is a CTG expansion in the 3-UTR of the DMPK gene. A length exceeding 50 CTG repeats is pathogenic, while normal individuals have 5 to 37 repeats. Intermediate alleles with 35-49 triplets are not disease-causing but show instability in intergenerational transmissions. Disease severity varies with the number of repeats: mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats.

(2) University of Copenhagen DISEASES for DMPK Gene

(22) Novoseek inferred disease relationships for DMPK Gene

Disease -log(P) Hits PubMed IDs
myotonic dystrophy 98.5 189
promm 85.6 6
myotonic disorders 84.1 4
myotonic dystrophy congenital 80.6 3
myotonic muscular dystrophy 80.1 3

Relevant External Links for DMPK

GeneTests
DMPK
GeneReviews
DMPK
Genetic Association Database (GAD)
DMPK
Human Genome Epidemiology (HuGE) Navigator
DMPK
genes like me logo Genes that share disorders with DMPK: view

Publications for DMPK Gene

  1. MKBP, a novel member of the small heat shock protein family, binds and activates the myotonic dystrophy protein kinase. (PMID: 9490724) Suzuki A. … Ohno S. (J. Cell Biol. 1998) 3 4 23
  2. Myotonic dystrophy protein kinase domains mediate localization, oligomerization, novel catalytic activity, and autoinhibition. (PMID: 10913253) Bush E.W. … Perryman M.B. (Biochemistry 2000) 3 4 23
  3. Phospholemman is a substrate for myotonic dystrophy protein kinase. (PMID: 10811636) Mounsey J.P. … Moorman J.R. (J. Biol. Chem. 2000) 3 4 23
  4. Rac-1 and Raf-1 kinases, components of distinct signaling pathways, activate myotonic dystrophy protein kinase. (PMID: 10869570) Shimizu M. … Epstein H.F. (FEBS Lett. 2000) 3 4 23
  5. Myotonic dystrophy protein kinase phosphorylates the myosin phosphatase targeting subunit and inhibits myosin phosphatase activity. (PMID: 11287000) Muranyi A. … Hartshorne D.J. (FEBS Lett. 2001) 3 4 23

Products for DMPK Gene

Sources for DMPK Gene

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