DMPK [The Human Chemical-Genetic Interaction Map Project]

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======= DMPK =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: DMPK
  * **<color #00a2e8>Official Name</color>**: DM1 protein kinase
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1760|1760]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q09013|Q09013]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=DMPK&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20DMPK|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/605377|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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. {ECO:0000269|PubMed:10811636, ECO:0000269|PubMed:10913253, ECO:0000269|PubMed:11287000, ECO:0000269|PubMed:15598648, ECO:0000269|PubMed:21457715, ECO:0000269|PubMed:21949239}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Pkinase|
|DMPK coil|
|Pkinase Tyr|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|myosin phosphatase regulator activity|
|regulation of skeletal muscle contraction by calcium ion signaling|
|muscle cell apoptotic process|
|regulation of skeletal muscle contraction|
|integral component of mitochondrial outer membrane|
|nuclear outer membrane|
|sarcoplasmic reticulum membrane|
|nuclear envelope organization|
|regulation of myotube differentiation|
|regulation of cardiac conduction|
|regulation of striated muscle contraction|
|regulation of striated muscle cell differentiation|
|regulation of phosphoprotein phosphatase activity|
|nucleus organization|
|regulation of protein dephosphorylation|
|calcium-mediated signaling|
|regulation of muscle cell differentiation|
|regulation of muscle contraction|
|peptidyl-serine phosphorylation|
|regulation of phosphatase activity|
|peptidyl-serine modification|
|regulation of dephosphorylation|
|regulation of muscle system process|
|nuclear membrane|
|regulation of heart contraction|
|regulation of blood circulation|
|second-messenger-mediated signaling|
|protein serine/threonine kinase activity|
|endomembrane system organization|
|cellular calcium ion homeostasis|
|calcium ion homeostasis|
|cellular divalent inorganic cation homeostasis|
|divalent inorganic cation homeostasis|
|cellular metal ion homeostasis|
|regulation of system process|
|metal ion homeostasis|
|cellular cation homeostasis|
|cellular ion homeostasis|
|cation homeostasis|
|inorganic ion homeostasis|
|cellular chemical homeostasis|
|ion homeostasis|
|membrane organization|
|peptidyl-amino acid modification|
|cellular homeostasis|
|apoptotic process|
|endoplasmic reticulum membrane|
|protein phosphorylation|
|programmed cell death|
|cell death|
|chemical homeostasis|
|regulation of hydrolase activity|
|phosphorylation|
|ATP binding|
|homeostatic process|
|intracellular signal transduction|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|regulation of cell differentiation|
|regulation of protein modification process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp20|Etoposide 10μM R00 exp20]]|1.72|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 12509
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 3.87 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='DMPK Expression in NALM6 Cells: 3.87'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>