3uxg

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{{STRUCTURE_3uxg| PDB=3uxg | SCENE= }}
 
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===Crystal structure of RFXANK===
 
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{{ABSTRACT_PUBMED_22649097}}
 
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==Disease==
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==Crystal structure of RFXANK==
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[[http://www.uniprot.org/uniprot/HDAC4_HUMAN HDAC4_HUMAN]] Defects in HDAC4 are the cause of brachydactyly-mental retardation syndrome (BDMR) [MIM:[http://omim.org/entry/600430 600430]]. A syndrome resembling the physical anomalies found in Albright hereditary osteodystrophy. Common features are mild facial dysmorphism, congenital heart defects, distinct brachydactyly type E, mental retardation, developmental delay, seizures, autism spectrum disorder, and stocky build. Soft tissue ossification is absent, and there are no abnormalities in parathyroid hormone or calcium metabolism.<ref>PMID:20691407</ref>
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<StructureSection load='3uxg' size='340' side='right'caption='[[3uxg]], [[Resolution|resolution]] 1.85&Aring;' scene=''>
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== Structural highlights ==
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==Function==
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<table><tr><td colspan='2'>[[3uxg]] is a 2 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=3UXG OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3UXG FirstGlance]. <br>
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[[http://www.uniprot.org/uniprot/HDAC4_HUMAN HDAC4_HUMAN]] Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation via its interaction with the myocyte enhancer factors such as MEF2A, MEF2C and MEF2D.<ref>PMID:10523670</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]] 1.85&#8491;</td></tr>
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<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=UNX:UNKNOWN+ATOM+OR+ION'>UNX</scene></td></tr>
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==About this Structure==
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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=3uxg FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3uxg OCA], [https://pdbe.org/3uxg PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3uxg RCSB], [https://www.ebi.ac.uk/pdbsum/3uxg PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3uxg ProSAT]</span></td></tr>
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[[3uxg]] is a 2 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=3UXG OCA].
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</table>
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== Disease ==
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==Reference==
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[https://www.uniprot.org/uniprot/RFXK_HUMAN RFXK_HUMAN] Immunodeficiency by defective expression of HLA class 2. The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:9806546</ref> <ref>PMID:10072068</ref> <ref>PMID:10725724</ref>
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<ref group="xtra">PMID:022649097</ref><references group="xtra"/><references/>
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== Function ==
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[[Category: Histone deacetylase]]
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[https://www.uniprot.org/uniprot/RFXK_HUMAN RFXK_HUMAN] Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II transactivator (MHC2TA). May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters. Isoform RFX-B-delta5 is not involved in the positive regulation of MHC class II genes.
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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: Arrowsmith, C H.]]
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[[Category: Large Structures]]
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[[Category: Bian, C.]]
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[[Category: Arrowsmith CH]]
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[[Category: Bountra, C.]]
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[[Category: Bian C]]
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[[Category: Chao, X.]]
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[[Category: Bountra C]]
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[[Category: Edwards, A M.]]
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[[Category: Chao X]]
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[[Category: Li, Y.]]
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[[Category: Edwards AM]]
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[[Category: Min, J.]]
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[[Category: Li Y]]
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[[Category: SGC, Structural Genomics Consortium.]]
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[[Category: Min J]]
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[[Category: Tempel, W.]]
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[[Category: Tempel W]]
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[[Category: Weigelt, J.]]
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[[Category: Weigelt J]]
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[[Category: Ankyrin repeat]]
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[[Category: Histone]]
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[[Category: Sgc]]
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[[Category: Structural genomics consortium]]
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[[Category: Transcription]]
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Current revision

Crystal structure of RFXANK

PDB ID 3uxg

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