2jrz

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== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[2jrz]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2JRZ OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2JRZ FirstGlance]. <br>
<table><tr><td colspan='2'>[[2jrz]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2JRZ OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2JRZ FirstGlance]. <br>
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</td></tr><tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">JARID1C, DXS1272E, SMCX, XE169 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
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</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">JARID1C, DXS1272E, SMCX, XE169 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
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<tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2jrz FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2jrz OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2jrz RCSB], [http://www.ebi.ac.uk/pdbsum/2jrz PDBsum]</span></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=2jrz FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2jrz OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2jrz RCSB], [http://www.ebi.ac.uk/pdbsum/2jrz PDBsum]</span></td></tr>
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<table>
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</table>
== Disease ==
== Disease ==
[[http://www.uniprot.org/uniprot/JAD1C_HUMAN JAD1C_HUMAN]] Defects in KDM5C are the cause of mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:[http://omim.org/entry/300534 300534]]. A disorder characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRXSCJ patients manifest mental retardation associated with variable features such as slowly progressive spastic paraplegia, seizures, facial dysmorphism.<ref>PMID:17320160</ref> <ref>PMID:17468742</ref> <ref>PMID:15586325</ref> <ref>PMID:16538222</ref> <ref>PMID:16541399</ref>
[[http://www.uniprot.org/uniprot/JAD1C_HUMAN JAD1C_HUMAN]] Defects in KDM5C are the cause of mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:[http://omim.org/entry/300534 300534]]. A disorder characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRXSCJ patients manifest mental retardation associated with variable features such as slowly progressive spastic paraplegia, seizures, facial dysmorphism.<ref>PMID:17320160</ref> <ref>PMID:17468742</ref> <ref>PMID:15586325</ref> <ref>PMID:16538222</ref> <ref>PMID:16541399</ref>
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</StructureSection>
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Arrowsmith, C H.]]
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[[Category: Arrowsmith, C H]]
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[[Category: Ball, L J.]]
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[[Category: Ball, L J]]
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[[Category: Bishop, S.]]
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[[Category: Bishop, S]]
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[[Category: Diehl, A.]]
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[[Category: Diehl, A]]
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[[Category: Dowler, E F.]]
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[[Category: Dowler, E F]]
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[[Category: Edwards, A.]]
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[[Category: Edwards, A]]
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[[Category: Koehler, C.]]
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[[Category: Koehler, C]]
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[[Category: Leidert, M.]]
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[[Category: Leidert, M]]
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[[Category: Oschkinat, H.]]
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[[Category: Oschkinat, H]]
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[[Category: SGC, Structural Genomics Consortium.]]
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[[Category: Structural genomic]]
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[[Category: Schmieder, P.]]
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[[Category: Schmieder, P]]
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[[Category: Sundstrom, M.]]
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[[Category: Sundstrom, M]]
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[[Category: Wiegelt, J.]]
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[[Category: Wiegelt, J]]
[[Category: Bright/arid domain]]
[[Category: Bright/arid domain]]
[[Category: Helical]]
[[Category: Helical]]
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[[Category: Oxidoreductase]]
[[Category: Oxidoreductase]]
[[Category: Sgc]]
[[Category: Sgc]]
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[[Category: Structural genomic]]
 
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[[Category: Structural genomics consortium]]
 

Revision as of 18:39, 19 January 2015

Solution structure of the Bright/ARID domain from the human JARID1C protein.

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