DMPK
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| DM1 protein kinase | MIM:605377 | Ensembl:ENSG00000104936 | HGNC:HGNC:2933 | PA27380 | 19q13.32 |
GO terms in DMPK
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0004674 | protein serine/threonine kinase activity |
| MF | IDA | GO:0004674 | protein serine/threonine kinase activity |
| MF | TAS | GO:0004674 | protein serine/threonine kinase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0005524 | ATP binding |
| MF | IDA | GO:0017020 | myosin phosphatase regulator activity |
| MF | IEA | GO:0031072 | heat shock protein binding |
| MF | IEA | GO:0046872 | metal ion binding |
| BP | IEA | GO:0002028 | regulation of sodium ion transport |
| BP | IDA | GO:0006468 | protein phosphorylation |
| BP | IBA | GO:0006874 | cellular calcium ion homeostasis |
| BP | ISS | GO:0006874 | cellular calcium ion homeostasis |
| BP | IBA | GO:0006998 | nuclear envelope organization |
| BP | IMP | GO:0006998 | nuclear envelope organization |
| BP | IBA | GO:0008016 | regulation of heart contraction |
| BP | IDA | GO:0008016 | regulation of heart contraction |
| BP | IDA | GO:0010657 | muscle cell apoptotic process |
| BP | ISS | GO:0010830 | regulation of myotube differentiation |
| BP | IBA | GO:0014722 | regulation of skeletal muscle contraction by calcium ion signaling |
| BP | IEA | GO:0014853 | regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction |
| BP | IBA | GO:0018105 | peptidyl-serine phosphorylation |
| BP | IBA | GO:0035556 | intracellular signal transduction |
| BP | IEA | GO:0043666 | regulation of phosphoprotein phosphatase activity |
| BP | IEA | GO:0051823 | regulation of synapse structural plasticity |
| BP | TAS | GO:1903779 | regulation of cardiac conduction |
| CC | IEA | GO:0005640 | nuclear outer membrane |
| CC | ISS | GO:0005789 | endoplasmic reticulum membrane |
| CC | ISS | GO:0005829 | cytosol |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | ISS | GO:0005886 | plasma membrane |
| CC | IBA | GO:0031307 | integral component of mitochondrial outer membrane |
| CC | IDA | GO:0031307 | integral component of mitochondrial outer membrane |
| CC | IBA | GO:0031965 | nuclear membrane |
| CC | ISS | GO:0031965 | nuclear membrane |
| CC | IBA | GO:0033017 | sarcoplasmic reticulum membrane |
| CC | ISS | GO:0033017 | sarcoplasmic reticulum membrane |
| CC | TAS | GO:0033017 | sarcoplasmic reticulum membrane |
Gene expression in normal tissue: DMPK
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in DMPK
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-397014 | Muscle contraction |
| reactome | R-HSA-5576891 | Cardiac conduction |
| reactome | R-HSA-5578775 | Ion homeostasis |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD79 | Gemcitabine | 2 |
| iGMDRD148 | Pifithrin-mu | 1 |
| iGMDRD772 | BRD4770 | 2 |
| iGMDRD584 | VER 155008 | 1 |
| iGMDRD512 | nutlin 3 | 2 |
| iGMDRD126 | Tipifarnib | 2 |
| iGMDRD945 | ML214 | 1 |
| iGMDRD154 | NSC23766 | 2 |
| iGMDRD280 | CYTOCHALASIN B | 2 |
| iGMDRD679 | Bistramide A | 4 |
| iGMDRD466 | Chaetocin | 3 |
| iGMDRD394 | BX-795 | 3 |
| iGMDRD297 | Austocystin D | 2 |
| iGMDRD61 | Kinetin riboside | 2 |
| iGMDRD267 | Oligomycin A | 1 |
| iGMDRD318 | PAC-1 | 1 |
| iGMDRD289 | Parthenolide | 2 |
| iGMDRD121 | GMX1778 | 2 |
| iGMDRD158 | NSC141540 | 2 |
| iGMDRD103 | SN-38 | 2 |
| iGMDRD322 | FK 866 | 2 |
| iGMDRD886 | Compound 1541A | 2 |
| iGMDRD398 | Sepantronium | 3 |
| iGMDRD562 | Navitoclax | 2 |
| iGMDRD577 | BIX01294 | 2 |
| iGMDRD329 | Merck60 | 3 |
| iGMDRD74 | Idarubicin | 2 |
| iGMDRD887 | Compound 23 citrate | 2 |
| iGMDRD100 | Zebularine | 4 |
| iGMDRD188 | Piperlongumine | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DMPK
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