6u82

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Current revision (07:45, 11 October 2023) (edit) (undo)
 
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<StructureSection load='6u82' size='340' side='right'caption='[[6u82]], [[Resolution|resolution]] 3.21&Aring;' scene=''>
<StructureSection load='6u82' size='340' side='right'caption='[[6u82]], [[Resolution|resolution]] 3.21&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
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<table><tr><td colspan='2'>[[6u82]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6U82 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6U82 FirstGlance]. <br>
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<table><tr><td colspan='2'>[[6u82]] is a 4 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=6U82 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=6U82 FirstGlance]. <br>
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</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">DUX4, DUX10 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
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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]] 3.21&#8491;</td></tr>
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6u82 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6u82 OCA], [http://pdbe.org/6u82 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=6u82 RCSB], [http://www.ebi.ac.uk/pdbsum/6u82 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=6u82 ProSAT]</span></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=6u82 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6u82 OCA], [https://pdbe.org/6u82 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6u82 RCSB], [https://www.ebi.ac.uk/pdbsum/6u82 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6u82 ProSAT]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
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[[http://www.uniprot.org/uniprot/DUX4_HUMAN DUX4_HUMAN]] Facioscapulohumeral dystrophy. The gene represented in this entry is involved in disease pathogenesis. The disease is caused by deletion of an integral number of units of a 3.3-kb tandem repeats, termed D4Z4 macrosatellite, located on chromosome 4q35. In unaffected subjects, the D4Z4 array consists of 11-150 repeats, while in FSHD1 patients, the array is reduced to 1-10 repeats (PubMed:19320656). DUX4 is located in D4Z4 macrosatellite which is epigenetically repressed in somatic tissues. D4Z4 chromatin relaxation in FSHD1 results in inefficient epigenetic repression of DUX4 and a variegated pattern of DUX4 protein expression in a subset of skeletal muscle nuclei. Ectopic expression of DUX4 in skeletal muscle activates the expression of stem cell and germline genes, and, when overexpressed in somatic cells, DUX4 can ultimately lead to cell death.<ref>PMID:19320656</ref>
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[https://www.uniprot.org/uniprot/DUX4_HUMAN DUX4_HUMAN] Facioscapulohumeral dystrophy. The gene represented in this entry is involved in disease pathogenesis. The disease is caused by deletion of an integral number of units of a 3.3-kb tandem repeats, termed D4Z4 macrosatellite, located on chromosome 4q35. In unaffected subjects, the D4Z4 array consists of 11-150 repeats, while in FSHD1 patients, the array is reduced to 1-10 repeats (PubMed:19320656). DUX4 is located in D4Z4 macrosatellite which is epigenetically repressed in somatic tissues. D4Z4 chromatin relaxation in FSHD1 results in inefficient epigenetic repression of DUX4 and a variegated pattern of DUX4 protein expression in a subset of skeletal muscle nuclei. Ectopic expression of DUX4 in skeletal muscle activates the expression of stem cell and germline genes, and, when overexpressed in somatic cells, DUX4 can ultimately lead to cell death.<ref>PMID:19320656</ref>
== Function ==
== Function ==
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[[http://www.uniprot.org/uniprot/DUX4_HUMAN DUX4_HUMAN]] Involved in transcriptional regulation. May regulate microRNA (miRNA) expression.<ref>PMID:10433963</ref> <ref>PMID:24145033</ref>
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[https://www.uniprot.org/uniprot/DUX4_HUMAN DUX4_HUMAN] Involved in transcriptional regulation. May regulate microRNA (miRNA) expression.<ref>PMID:10433963</ref> <ref>PMID:24145033</ref>
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== Publication Abstract from PubMed ==
== Publication Abstract from PubMed ==
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__TOC__
__TOC__
</StructureSection>
</StructureSection>
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[[Category: Human]]
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[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Large Structures]]
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[[Category: Aihara, H]]
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[[Category: Aihara H]]
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[[Category: Shi, K]]
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[[Category: Shi K]]
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[[Category: Dna binding protein-dna complex]]
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[[Category: Dux tandem homeodomain]]
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Current revision

Crystal Structure of the Double Homeodomain of DUX4 in Complex with a DNA aptamer containing bulge and loop

PDB ID 6u82

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