Tchem DMPK Myotonin-protein kinase

Protein Summary

Description

Non-receptor serine/threonine protein kinase which is necessary for the maintenance of skeletal muscle structure and function. May play a role in myocyte differentiation and survival by regulating the integrity of the nuclear envelope and the expression of muscle-specific genes. May also phosphorylate PPP1R12A and inhibit the myosin phosphatase activity to regulate myosin phosphorylation. Also critical to the modulation of cardiac contractility and to the maintenance of proper cardiac conduction activity probably through the regulation of cellular calcium homeostasis. Phosphorylates PLN, a regulator of calcium pumps and may regulate sarcoplasmic reticulum calcium uptake in myocytes. May also phosphorylate FXYD1/PLM which is able to induce chloride currents. May also play a role in synaptic plasticity. 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]

Uniprot Accession IDs

• Q09013
• E5KR08
• Q16205
• Q6P5Z6
• MT-PK

Gene Name

• DMPK

Ensembl ID

• ENST00000291270
• ENSP00000291270
• ENSG00000104936
• ENST00000343373
• ENSP00000345997
• ENST00000354227
• ENSP00000346168
• ENST00000447742
• ENSP00000413417
• ENST00000458663
• ENSP00000401753
• ENST00000618091
• ENSP00000482746

Symbol

• DM1PK
• MDPK
• DM
• DM1
• DMK
• MDPK
• DM1PK
• MT-PK

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
molecular function	0.98
protein domain	0.92
biological term	0.76
co-expressed gene	0.76
tissue sample	0.65

Protein Classes

PANTHER Classes

Protein / Transferase / Kinase / Protein Kinase / Non-receptor Serine/threonine Protein Kinase / Myotonin-protein Kinase

Protein / Transfer/carrier Protein / Myotonin-protein Kinase

Protein / Calcium-binding Protein / Intracellular Calcium-sensing Protein / Calmodulin / Myotonin-protein Kinase

Protein / Calcium-binding Protein / Annexin / Myotonin-protein Kinase

DTO Classes

Protein / Kinase / Protein Kinase / Agc Group / Dmpk Family / Gek Subfamily / Myotonin-protein Kinase

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 425.55   (req: < 5)

Gene RIFs: 102   (req: <= 3)

Antibodies: 280   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 425.55   (req: >= 5)

Gene RIFs: 102   (req: > 3)

Antibodies: 280   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 14

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 2

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0