Entity Details

Primary name DMPK
Entity type gene
Source Source Link

Details

PrimaryID1760
RefseqGeneNG_009784
SymbolDMPK
NameDM1 protein kinase
Chromosome19
Location19q13.32
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-09-20
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsDMPK_HUMAN

GO terms

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GOName
GO:0002028 regulation of sodium ion transport
GO:0004674 protein serine/threonine kinase activity
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:0031307 integral component of mitochondrial outer membrane
GO:0031965 nuclear 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
GO:0106311 protein threonine kinase activity
GO:1903779 regulation of cardiac conduction

Diseases

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Disease IDSourceNameDescription
160900 OMIMDystrophia myotonica 1 (DM1)A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias. The disease is caused by variants 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.