2jrz

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<StructureSection load='2jrz' size='340' side='right' caption='[[2jrz]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
<StructureSection load='2jrz' size='340' side='right' caption='[[2jrz]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
== Structural highlights ==
== Structural highlights ==
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<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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<table><tr><td colspan='2'>[[2jrz]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. 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 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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</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 HUMAN])</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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<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://pdbe.org/2jrz PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2jrz RCSB], [http://www.ebi.ac.uk/pdbsum/2jrz PDBsum]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
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[[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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[[http://www.uniprot.org/uniprot/KDM5C_HUMAN KDM5C_HUMAN]] Syndromic X-linked intellectual disability due to JARID1C mutation. The disease is caused by mutations affecting the gene represented in this entry.
== Function ==
== Function ==
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[[http://www.uniprot.org/uniprot/JAD1C_HUMAN JAD1C_HUMAN]] Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. Participates in transcriptional repression of neuronal genes by recruiting histone deacetylases and REST at neuron-restrictive silencer elements.<ref>PMID:17320161</ref> <ref>PMID:17320160</ref> <ref>PMID:17468742</ref>
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[[http://www.uniprot.org/uniprot/KDM5C_HUMAN KDM5C_HUMAN]] Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. Participates in transcriptional repression of neuronal genes by recruiting histone deacetylases and REST at neuron-restrictive silencer elements. Represses the CLOCK-ARNTL/BMAL1 heterodimer-mediated transcriptional activation of the core clock component PER2 (By similarity).[UniProtKB:P41230]<ref>PMID:17320160</ref> <ref>PMID:17320161</ref> <ref>PMID:17468742</ref>
== Evolutionary Conservation ==
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
[[Image:Consurf_key_small.gif|200px|right]]
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From MEDLINE&reg;/PubMed&reg;, a database of the U.S. National Library of Medicine.<br>
From MEDLINE&reg;/PubMed&reg;, a database of the U.S. National Library of Medicine.<br>
</div>
</div>
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<div class="pdbe-citations 2jrz" style="background-color:#fffaf0;"></div>
== References ==
== References ==
<references/>
<references/>
__TOC__
__TOC__
</StructureSection>
</StructureSection>
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[[Category: Homo sapiens]]
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[[Category: Human]]
[[Category: Arrowsmith, C H]]
[[Category: Arrowsmith, C H]]
[[Category: Ball, L J]]
[[Category: Ball, L J]]

Revision as of 07:18, 11 September 2015

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

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