2cxk

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{{STRUCTURE_2cxk| PDB=2cxk | SCENE= }}
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==Crystal structure of the TIG domain of human calmodulin-binding transcription activator 1 (CAMTA1)==
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===Crystal structure of the TIG domain of human calmodulin-binding transcription activator 1 (CAMTA1)===
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<StructureSection load='2cxk' size='340' side='right' caption='[[2cxk]], [[Resolution|resolution]] 1.85&Aring;' scene=''>
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== Structural highlights ==
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==Disease==
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<table><tr><td colspan='2'>[[2cxk]] is a 5 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=2CXK OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2CXK FirstGlance]. <br>
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[[http://www.uniprot.org/uniprot/CMTA1_HUMAN CMTA1_HUMAN]] Defects in CAMTA1 are the cause of cerebellar ataxia, non-progressive, with mental retardation (CANPMR) [MIM:[http://omim.org/entry/614756 614756]]. A neurodevelopmental disorder characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life. Other features may include neonatal hypotonia, dysarthria, and dysmetria. Brain imaging in some patients shows cerebellar atrophy. Dysmorphic facial features are variable.<ref>PMID:22693284</ref>
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</td></tr><tr><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene><br>
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<tr><td class="sblockLbl"><b>[[Non-Standard_Residue|NonStd Res:]]</b></td><td class="sblockDat"><scene name='pdbligand=MSE:SELENOMETHIONINE'>MSE</scene></td></tr>
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==Function==
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<tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">CAMTA1 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
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[[http://www.uniprot.org/uniprot/CMTA1_HUMAN CMTA1_HUMAN]] Transcriptional activator. May act as a tumor suppressor.<ref>PMID:11925432</ref><ref>PMID:15709179</ref>
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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=2cxk FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2cxk OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2cxk RCSB], [http://www.ebi.ac.uk/pdbsum/2cxk PDBsum], [http://www.topsan.org/Proteins/RSGI/2cxk TOPSAN]</span></td></tr>
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<table>
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==About this Structure==
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== Disease ==
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[[2cxk]] is a 5 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=2CXK OCA].
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[[http://www.uniprot.org/uniprot/CMTA1_HUMAN CMTA1_HUMAN]] Defects in CAMTA1 are the cause of cerebellar ataxia, non-progressive, with mental retardation (CANPMR) [MIM:[http://omim.org/entry/614756 614756]]. A neurodevelopmental disorder characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life. Other features may include neonatal hypotonia, dysarthria, and dysmetria. Brain imaging in some patients shows cerebellar atrophy. Dysmorphic facial features are variable.<ref>PMID:22693284</ref>
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== Function ==
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==Reference==
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[[http://www.uniprot.org/uniprot/CMTA1_HUMAN CMTA1_HUMAN]] Transcriptional activator. May act as a tumor suppressor.<ref>PMID:11925432</ref> <ref>PMID:15709179</ref>
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<references group="xtra"/><references/>
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== Evolutionary Conservation ==
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[[Image:Consurf_key_small.gif|200px|right]]
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Check<jmol>
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<jmolCheckbox>
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<scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/cx/2cxk_consurf.spt"</scriptWhenChecked>
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<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
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<text>to colour the structure by Evolutionary Conservation</text>
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</jmolCheckbox>
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</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/chain_selection.php?pdb_ID=2ata ConSurf].
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<div style="clear:both"></div>
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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]]
[[Category: Murayama, K.]]
[[Category: Murayama, K.]]

Revision as of 01:47, 30 September 2014

Crystal structure of the TIG domain of human calmodulin-binding transcription activator 1 (CAMTA1)

2cxk, resolution 1.85Å

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