Myotonin-protein kinase

DMPK
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesDMPK, DM, DM1, DM1PK, DMK, MDPK, MT-PK, Dm15, dystrophia myotonica protein kinase, DM1 protein kinase
External IDsOMIM: 605377; MGI: 94906; HomoloGene: 3247; GeneCards: DMPK; OMA:DMPK - orthologs
Orthologs
SpeciesHumanMouse
Entrez

1760

13400

Ensembl

ENSG00000104936

ENSMUSG00000030409

UniProt

Q09013

P54265

RefSeq (mRNA)

NM_001190490
NM_001190491
NM_032418
NM_001374651
NM_001379257

RefSeq (protein)

NP_001177419
NP_001177420
NP_115794
NP_001361580
NP_001366186

Location (UCSC)Chr 19: 45.77 – 45.78 MbChr 7: 18.82 – 18.83 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Myotonin-protein kinase (MT-PK) also known as myotonic dystrophy protein kinase (MDPK) or dystrophia myotonica protein kinase (DMPK) is an enzyme that in humans is encoded by the DMPK gene.

The DMPK gene product is a Ser/Thr protein kinase homologous to the MRCK p21-activated kinases and Rho kinase family. Data obtained by using antibodies that detect specific isoforms of DMPK indicate that the most abundant isoform of DMPK is an 80-kDa protein expressed almost exclusively in smooth, skeletal, and cardiac muscles. This kinase exists both as a membrane-associated and as a soluble form in human left ventricular samples. The different C termini of DMPK that arise from alternative splicing determine its localization to the endoplasmic reticulum, mitochondria, or cytosol in transfected COS-1 cells. Among the substrates for DMPK proposed by in vitro studies are phospholemman, the dihydropyridine receptor, and the myosin phosphatase targeting subunit. However, an in vivo demonstration of the phosphorylation of these substrates by DMPK remains to be established, and a link between these substrates and the clinical manifestations of myotonic dystrophy (DM) is unclear.