1. Gene
  2. Dmpk - dystrophia myotonica-protein kinase Gene

Dmpk - dystrophia myotonica-protein kinase Gene

Mus musculus

Also known as DM; DMK; Dm15; MDPK; MT-PK

Gene ID: 13400 | Gene type: protein coding

About Dmpk

Summary

The protein encoded by this gene is a serine/threonine protein kinase that contains coiled-coil and C-terminal membrane association domains. In the embryonic mouse, it is found in cardiac and skeletal myocytes where it appears to play a role in myogenesis. In adults, the transcript is localized to several tissues including brain, heart, and skeletal and smooth muscle, and a function in cytoskeletal remodeling has been described. Transcripts with expanded CUG repeats in the 3' untranslated region mediate alternative splicing of several genes and sequester RNA binding proteins and RNA transcripts that contain CAG repeats, resulting in myotonic dystrophy, an autosomal dominant neuromuscular disorder. Alternative splicing results in multiple protein coding and non-coding transcript variants. [provided by RefSeq, Oct 2014]

Dmpk Products(5)

mRNA Protein Name
NM_001190490.2 NP_001177419.1 myotonin-protein kinase isoform 2
NM_001190491.2 NP_001177420.1 myotonin-protein kinase isoform 3
NM_001374651.1 NP_001361580.1 myotonin-protein kinase isoform 5
NM_001379257.1 NP_001366186.1 myotonin-protein kinase isoform 6
NM_032418.3 NP_115794.1 myotonin-protein kinase isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
8851885 MGI
Biological Process GO Annotation Evidence Reference Source
involved in intracellular calcium ion homeostasis IMP
IMP: Inferred from mutant phenotype
9294109 MGI
involved in nuclear envelope organization IMP
IMP: Inferred from mutant phenotype
21949239 MGI
acts upstream of or within regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction IMP
IMP: Inferred from mutant phenotype
11526199 MGI
involved in regulation of heart contraction IDA
IDA: Inferred from direct assay
15598648 MGI
involved in regulation of myotube differentiation IMP
IMP: Inferred from mutant phenotype
18729234 MGI
involved in regulation of skeletal muscle contraction by calcium ion signaling IMP
IMP: Inferred from mutant phenotype
9294109 MGI
acts upstream of or within regulation of sodium ion transport IMP
IMP: Inferred from mutant phenotype
11526199 MGI
involved in regulation of synapse structural plasticity IMP
IMP: Inferred from mutant phenotype
12612014 MGI
Cellular Component GO Annotation Evidence Reference Source
located in cytosol IDA
IDA: Inferred from direct assay
15684391 MGI
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
15684391 MGI
located in mitochondrial outer membrane IDA
IDA: Inferred from direct assay
15684391 MGI
located in nuclear membrane IDA
IDA: Inferred from direct assay
15684391 MGI
located in plasma membrane IDA
IDA: Inferred from direct assay
18729234 MGI
located in sarcoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
15598648 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

myotonin-protein kinase

DM-kinase

dystrophia myotonica kinase, B15

myotonic dystrophy protein kinase

Orthologs Information

Species Symbol Source ID
Homo sapiens Dmpk NCBI NCBI:1760