• Gene id: 1760

Gene Summary

• Gene Symbol: DMPK   Gene   UCSC   Ensembl
• Aliases: DM, DM1, DM1PK, DMK, MDPK, MT-PK
• Gene name: DM1 protein kinase
• Alternate names: myotonin-protein kinase, DM protein kinase, dystrophia myotonica protein kinase, myotonic dystrophy associated protein kinase, myotonin protein kinase A, thymopoietin homolog,
• Gene location: 19q13.32 (45782556: 45769708)     Exons: 16     NC_000019.10
• Gene summary(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 chann
• OMIM: 605377

Protein Summary

• Protein general information: Q09013  
  • Name: Myotonin protein kinase (MT PK) (EC 2.7.11.1) (DM kinase) (DMK) (DM1 protein kinase) (DMPK) (Myotonic dystrophy protein kinase)
  • Length: 629  
  • Mass: 69,385
• Sequence:

  MSAEVRLRRLQQLVLDPGFLGLEPLLDLLLGVHQELGASELAQDKYVADFLQWAEPIVVRLKEVRLQRDDFEILK
  VIGRGAFSEVAVVKMKQTGQVYAMKIMNKWDMLKRGEVSCFREERDVLVNGDRRWITQLHFAFQDENYLYLVMEY
  YVGGDLLTLLSKFGERIPAEMARFYLAEIVMAIDSVHRLGYVHRDIKPDNILLDRCGHIRLADFGSCLKLRADGT
  VRSLVAVGTPDYLSPEILQAVGGGPGTGSYGPECDWWALGVFAYEMFYGQTPFYADSTAETYGKIVHYKEHLSLP
  LVDEGVPEEARDFIQRLLCPPETRLGRGGAGDFRTHPFFFGLDWDGLRDSVPPFTPDFEGATDTCNFDLVEDGLT
  AMVSGGGETLSDIREGAPLGVHLPFVGYSYSCMALRDSEVPGPTPMELEAEQLLEPHVQAPSLEPSVSPQDETAE
  VAVPAAVPAAEAEAEVTLRELQEALEEEVLTRQSLSREMEAIRTDNQNFASQLREAEARNRDLEAHVRQLQERME
  LLQAEGATAVTGVPSPRATDPPSHLDGPPAVAVGQCPLVGPGPMHRRHLLLPARVPRPGLSEALSLLLFAVVLSR
  AAALGCIGLVAHAGQLTAVWRRPGAARAP

• Structural information:
  • Protein Domains: Protein (71-339)
    AGC-kinase (340-415)
  • Interpro: IPR000961  IPR011009  IPR014930  IPR000719  IPR017441   IPR008271  
  • Prosite: PS51285 PS00107 PS50011 PS00108
  • PDB: 1WT6 2VD5
  • PDBsum: 1WT6 2VD5
  • STRING: ENSP00000345997
• Other Databases: GeneCards:  DMPK  Malacards:  DMPK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002028	regulation of sodium ion transport	IEA	biological process
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0005640	nuclear outer membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component
GO:0005829	cytosol	ISS	cellular component
GO:0005886	plasma membrane	ISS	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0006468	protein phosphorylation	IDA	biological process
GO:0006468	protein phosphorylation	IDA	biological process
GO:0006874	cellular calcium ion homeostasis	ISS	biological process
GO:0006874	cellular calcium ion homeostasis	IBA	biological process
GO:0006998	nuclear envelope organization	IMP	biological process
GO:0008016	regulation of heart contraction	IDA	biological process
GO:0010657	muscle cell apoptotic process	IDA	biological process
GO:0010830	regulation of myotube differentiation	ISS	biological process
GO:0014722	regulation of skeletal muscle contraction by calcium ion signaling	IBA	biological process
GO:0014853	regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction	IEA	biological process
GO:0017020	myosin phosphatase regulator activity	IDA	molecular function
GO:0018105	peptidyl-serine phosphorylation	IBA	biological process
GO:0031072	heat shock protein binding	IEA	molecular function
GO:0031307	integral component of mitochondrial outer membrane	IDA	cellular component
GO:0031965	nuclear membrane	ISS	cellular component
GO:0031965	nuclear membrane	IBA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	ISS	cellular component
GO:0033017	sarcoplasmic reticulum membrane	IBA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	TAS	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0051823	regulation of synapse structural plasticity	IEA	biological process
GO:1903779	regulation of cardiac conduction	TAS	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0002028	regulation of sodium ion transport	IEA	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005640	nuclear outer membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	ISS	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	ISS	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006468	protein phosphorylation	IDA	biological process
GO:0006468	protein phosphorylation	IDA	biological process
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0006874	cellular calcium ion homeostasis	ISS	biological process
GO:0006874	cellular calcium ion homeostasis	IBA	biological process
GO:0006998	nuclear envelope organization	IEA	biological process
GO:0006998	nuclear envelope organization	IMP	biological process
GO:0008016	regulation of heart contraction	IEA	biological process
GO:0008016	regulation of heart contraction	IDA	biological process
GO:0010657	muscle cell apoptotic process	IDA	biological process
GO:0010830	regulation of myotube differentiation	IEA	biological process
GO:0010830	regulation of myotube differentiation	ISS	biological process
GO:0014722	regulation of skeletal muscle contraction by calcium ion signaling	IEA	biological process
GO:0014722	regulation of skeletal muscle contraction by calcium ion signaling	IBA	biological process
GO:0014853	regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0017020	myosin phosphatase regulator activity	IDA	molecular function
GO:0018105	peptidyl-serine phosphorylation	IBA	biological process
GO:0031072	heat shock protein binding	IEA	molecular function
GO:0031307	integral component of mitochondrial outer membrane	IEA	cellular component
GO:0031307	integral component of mitochondrial outer membrane	IDA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0031965	nuclear membrane	ISS	cellular component
GO:0031965	nuclear membrane	IBA	cellular component
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	IEA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	ISS	cellular component
GO:0033017	sarcoplasmic reticulum membrane	IBA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	IEA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	TAS	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0051823	regulation of synapse structural plasticity	IEA	biological process
GO:1903779	regulation of cardiac conduction	TAS	biological process
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component
GO:0005829	cytosol	ISS	cellular component
GO:0005886	plasma membrane	ISS	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0006468	protein phosphorylation	IDA	biological process
GO:0006468	protein phosphorylation	IDA	biological process
GO:0006874	cellular calcium ion homeostasis	ISS	biological process
GO:0006874	cellular calcium ion homeostasis	IBA	biological process
GO:0006998	nuclear envelope organization	IMP	biological process
GO:0008016	regulation of heart contraction	IDA	biological process
GO:0010657	muscle cell apoptotic process	IDA	biological process
GO:0010830	regulation of myotube differentiation	ISS	biological process
GO:0014722	regulation of skeletal muscle contraction by calcium ion signaling	IBA	biological process
GO:0017020	myosin phosphatase regulator activity	IDA	molecular function
GO:0018105	peptidyl-serine phosphorylation	IBA	biological process
GO:0031307	integral component of mitochondrial outer membrane	IDA	cellular component
GO:0031965	nuclear membrane	ISS	cellular component
GO:0031965	nuclear membrane	IBA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	ISS	cellular component
GO:0033017	sarcoplasmic reticulum membrane	IBA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	TAS	cellular component
GO:1903779	regulation of cardiac conduction	TAS	biological process

Diseases

Associated diseases	References
Atherosclerosis	GAD: 19948975
Cleft defects	GAD: 15210527
Cleft defects	GAD: 15210527
Celiac disease	GAD: 8839772
Myotonic dystrophy	GAD: 14510658
Schizophrenia	GAD: 11121205
Chronic renal failure	GAD: 21085059
Male factor infertility	MIK: 15284213
Cataract	GAD: 15824798
Cryptorchidism	MIK: 28606200
Idiopathic male subfertility	MIK: 15284213
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
15284213	Idiopathic male subfertility	DM1PK (CTG repeats)		209 (107 subfertile patients, male partners of infertile couples, affected by non-obstructive azoospermia (n = 38) and oligoasthenoteratozoospermia (OAT) (n = 69), 102 men with proven fertility)	Male infertility	DM1PK
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray