1wt6

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{{STRUCTURE_1wt6| PDB=1wt6 | SCENE= }}
 
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===Coiled-Coil domain of DMPK===
 
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{{ABSTRACT_PUBMED_16770013}}
 
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==Disease==
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==Coiled-Coil domain of DMPK==
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[[http://www.uniprot.org/uniprot/DMPK_HUMAN DMPK_HUMAN]] Defects in DMPK are the cause of dystrophia myotonica type 1 (DM1) [MIM:[http://omim.org/entry/160900 160900]]; also known as Steinert disease. A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias. Note=The causative mutation is a CTG expansion in the 3'-UTR of the DMPK gene. A length exceeding 50 CTG repeats is pathogenic, while normal individuals have 5 to 37 repeats. Intermediate alleles with 35-49 triplets are not disease-causing but show instability in intergenerational transmissions. Disease severity varies with the number of repeats: mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats.<ref>PMID:1546326</ref><ref>PMID:1310900</ref><ref>PMID:1302022</ref><ref>PMID:19514047</ref>
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<StructureSection load='1wt6' size='340' side='right'caption='[[1wt6]], [[Resolution|resolution]] 1.60&Aring;' scene=''>
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== Structural highlights ==
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==Function==
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<table><tr><td colspan='2'>[[1wt6]] is a 3 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1WT6 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1WT6 FirstGlance]. <br>
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[[http://www.uniprot.org/uniprot/DMPK_HUMAN DMPK_HUMAN]] 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.<ref>PMID:10913253</ref><ref>PMID:10811636</ref><ref>PMID:11287000</ref><ref>PMID:15598648</ref><ref>PMID:21457715</ref><ref>PMID:21949239</ref>
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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.6&#8491;</td></tr>
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=1wt6 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1wt6 OCA], [https://pdbe.org/1wt6 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1wt6 RCSB], [https://www.ebi.ac.uk/pdbsum/1wt6 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1wt6 ProSAT]</span></td></tr>
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==About this Structure==
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</table>
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[[1wt6]] is a 3 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1WT6 OCA].
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== Disease ==
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[https://www.uniprot.org/uniprot/DMPK_HUMAN DMPK_HUMAN] Defects in DMPK are the cause of dystrophia myotonica type 1 (DM1) [MIM:[https://omim.org/entry/160900 160900]; also known as Steinert disease. A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias. Note=The causative mutation is a CTG expansion in the 3'-UTR of the DMPK gene. A length exceeding 50 CTG repeats is pathogenic, while normal individuals have 5 to 37 repeats. Intermediate alleles with 35-49 triplets are not disease-causing but show instability in intergenerational transmissions. Disease severity varies with the number of repeats: mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats.<ref>PMID:1546326</ref> <ref>PMID:1310900</ref> <ref>PMID:1302022</ref> <ref>PMID:19514047</ref>
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==Reference==
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== Function ==
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<ref group="xtra">PMID:016770013</ref><ref group="xtra">PMID:015583383</ref><references group="xtra"/><references/>
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[https://www.uniprot.org/uniprot/DMPK_HUMAN DMPK_HUMAN] 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.<ref>PMID:10913253</ref> <ref>PMID:10811636</ref> <ref>PMID:11287000</ref> <ref>PMID:15598648</ref> <ref>PMID:21457715</ref> <ref>PMID:21949239</ref>
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== Evolutionary Conservation ==
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[[Image:Consurf_key_small.gif|200px|right]]
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Check<jmol>
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<jmolCheckbox>
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<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/wt/1wt6_consurf.spt"</scriptWhenChecked>
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<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
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<text>to colour the structure by Evolutionary Conservation</text>
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</jmolCheckbox>
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</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/main_output.php?pdb_ID=1wt6 ConSurf].
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<div style="clear:both"></div>
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== References ==
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<references/>
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__TOC__
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Garcia, P.]]
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[[Category: Large Structures]]
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[[Category: Marino, M.]]
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[[Category: Garcia P]]
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[[Category: Mayans, O.]]
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[[Category: Marino M]]
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[[Category: Coiled-coil]]
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[[Category: Mayans O]]
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[[Category: Dmpk]]
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[[Category: Kinase activation]]
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[[Category: Molecular replacement]]
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[[Category: Transferase]]
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Current revision

Coiled-Coil domain of DMPK

PDB ID 1wt6

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