6e8c: Difference between revisions

<table><tr><td colspan='2'>[[6e8c]] 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=6E8C OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=6E8C FirstGlance]. <br>

</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.12&#8491;</td></tr>

<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CME:S,S-(2-HYDROXYETHYL)THIOCYSTEINE'>CME</scene></td></tr>

<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=6e8c FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6e8c OCA], [https://pdbe.org/6e8c PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6e8c RCSB], [https://www.ebi.ac.uk/pdbsum/6e8c PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6e8c ProSAT]</span></td></tr>

[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>  

[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>  

[[Category: Homo sapiens]]

[[Category: Aihara H]]

[[Category: Banerjee S]]

[[Category: Bohl TE]]

[[Category: Bosnakovski D]]

[[Category: Dinh T]]

[[Category: Kurahashi K]]

[[Category: Kyba M]]

[[Category: Lee JK]]

[[Category: Shi K]]

[[Category: Toso EA]]