DMPK

Protein identityUniProt · HPA

UniProt accession

Q09013

Gene

DMPK

Ensembl

ENSG00000104936

Chromosome

19

Canonical length

629 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Vesicles,Cytosol

Quaternary structure

Homodimer

OverviewNCBI 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 5-38 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]

Canonical amino-acid sequenceUniProt

629 residues, UniProt reviewed canonical sequence.

>Q09013|DMPK
     1  MSAEVRLRRL QQLVLDPGFL GLEPLLDLLL GVHQELGASE LAQDKYVADF LQWAEPIVVR
    61  LKEVRLQRDD FEILKVIGRG AFSEVAVVKM KQTGQVYAMK IMNKWDMLKR GEVSCFREER
   121  DVLVNGDRRW ITQLHFAFQD ENYLYLVMEY YVGGDLLTLL SKFGERIPAE MARFYLAEIV
   181  MAIDSVHRLG YVHRDIKPDN ILLDRCGHIR LADFGSCLKL RADGTVRSLV AVGTPDYLSP
   241  EILQAVGGGP GTGSYGPECD WWALGVFAYE MFYGQTPFYA DSTAETYGKI VHYKEHLSLP
   301  LVDEGVPEEA RDFIQRLLCP PETRLGRGGA GDFRTHPFFF GLDWDGLRDS VPPFTPDFEG
   361  ATDTCNFDLV EDGLTAMVSG GGETLSDIRE GAPLGVHLPF VGYSYSCMAL RDSEVPGPTP
   421  MELEAEQLLE PHVQAPSLEP SVSPQDETAE VAVPAAVPAA EAEAEVTLRE LQEALEEEVL
   481  TRQSLSREME AIRTDNQNFA SQLREAEARN RDLEAHVRQL QERMELLQAE GATAVTGVPS
   541  PRATDPPSHL DGPPAVAVGQ CPLVGPGPMH RRHLLLPARV PRPGLSEALS LLLFAVVLSR
   601  AAALGCIGLV AHAGQLTAVW RRPGAARAP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DMPK can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.38

Highest tissue expression

193 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DMPK.

Disease | AllUniProt

Conditions DMPK is implicated in, by any mechanism.

• Dystrophia myotonica 1 (DM1) MIM:160900

Disease | GeneticClinVar

183 pathogenic / likely-pathogenic of 401 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Steinert myotonic dystrophy syndrome
• Bethlem myopathy 1A
• Male infertility

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.51

gnomAD pLI

0.04

gnomAD missense Z

0.28

DepMap mean gene effect

-0.06

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• intracellular calcium ion homeostasis
• muscle cell apoptotic process
• nuclear envelope organization
• protein phosphorylation
• regulation of heart contraction
• regulation of myotube differentiation
• regulation of skeletal muscle contraction by calcium ion signaling
• regulation of sodium ion transport
• regulation of synapse structural plasticity
• regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction

Molecular functions

• ATP binding
• metal ion binding
• myosin phosphatase regulator activity
• protein serine kinase activity
• protein serine/threonine kinase activity

Cellular components

• cytosol
• endoplasmic reticulum membrane
• mitochondrial outer membrane
• nuclear membrane
• nuclear outer membrane
• plasma membrane
• sarcoplasmic reticulum membrane

Protein domainsUniProt · Pfam · InterPro

• Protein kinase domain
• AGC-kinase, C-terminal
• Serine/threonine-protein kinase, active site
• Protein kinase-like domain superfamily
• Myotonic dystrophy protein kinase, coiled coil
• Protein kinase, ATP binding site
• Rho-associated Serine/Threonine Kinase
• Protein kinase domain
• DMPK coiled coil domain like

KeywordsUniProt

• ATP-binding
• Cataract
• Cell membrane
• Coiled coil
• Cytoplasm
• Endoplasmic reticulum
• Kinase
• Magnesium
• Membrane
• Metal-binding
• Mitochondrion
• Mitochondrion outer membrane
• Nucleotide-binding
• Nucleus
• Phosphoprotein
• Sarcoplasmic reticulum
• Serine/threonine-protein kinase
• Transferase
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of DMPK in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• HSPB2
• LMNA
• PLN