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 |
|---|---|---|---|---|---|
OMIM IDMIM:605377 Ensembl IDEnsembl:ENSG00000104936 HGNC IDHGNC:HGNC:2933 PHARMGKB IDPA27380 Map Location19q13.32 | |||||
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 |
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
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DMPK
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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