2cxk

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<StructureSection load='2cxk' size='340' side='right'caption='[[2cxk]], [[Resolution|resolution]] 1.85&Aring;' scene=''>
<StructureSection load='2cxk' size='340' side='right'caption='[[2cxk]], [[Resolution|resolution]] 1.85&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
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<table><tr><td colspan='2'>[[2cxk]] is a 5 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. 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 [https://proteopedia.org/fgij/fg.htm?mol=2CXK FirstGlance]. <br>
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<table><tr><td colspan='2'>[[2cxk]] is a 5 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=2CXK OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2CXK FirstGlance]. <br>
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</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene></td></tr>
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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='NonStdRes'><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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<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=MSE:SELENOMETHIONINE'>MSE</scene>, <scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene></td></tr>
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<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">CAMTA1 ([https://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'>[https://proteopedia.org/fgij/fg.htm?mol=2cxk FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2cxk OCA], [https://pdbe.org/2cxk PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2cxk RCSB], [https://www.ebi.ac.uk/pdbsum/2cxk PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2cxk ProSAT], [https://www.topsan.org/Proteins/RSGI/2cxk TOPSAN]</span></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=2cxk FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2cxk OCA], [https://pdbe.org/2cxk PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2cxk RCSB], [https://www.ebi.ac.uk/pdbsum/2cxk PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2cxk ProSAT], [https://www.topsan.org/Proteins/RSGI/2cxk TOPSAN]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
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[[https://www.uniprot.org/uniprot/CMTA1_HUMAN CMTA1_HUMAN]] Defects in CAMTA1 are the cause of cerebellar ataxia, non-progressive, with mental retardation (CANPMR) [MIM:[https://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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[https://www.uniprot.org/uniprot/CMTA1_HUMAN CMTA1_HUMAN] Defects in CAMTA1 are the cause of cerebellar ataxia, non-progressive, with mental retardation (CANPMR) [MIM:[https://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>
== Function ==
== Function ==
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[[https://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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[https://www.uniprot.org/uniprot/CMTA1_HUMAN CMTA1_HUMAN] Transcriptional activator. May act as a tumor suppressor.<ref>PMID:11925432</ref> <ref>PMID:15709179</ref>
== Evolutionary Conservation ==
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
[[Image:Consurf_key_small.gif|200px|right]]
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__TOC__
__TOC__
</StructureSection>
</StructureSection>
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[[Category: Human]]
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[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Large Structures]]
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[[Category: Murayama, K]]
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[[Category: Murayama K]]
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[[Category: Pioszak, A A]]
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[[Category: Pioszak AA]]
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[[Category: Structural genomic]]
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[[Category: Shirouzu M]]
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[[Category: Shirouzu, M]]
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[[Category: Yokoyama S]]
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[[Category: Yokoyama, S]]
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[[Category: National project on protein structural and functional analyse]]
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[[Category: Nppsfa]]
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[[Category: Rsgi]]
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[[Category: Tig/ipt domain]]
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[[Category: Transcription]]
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[[Category: Transcription activator]]
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Revision as of 11:32, 22 May 2024

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

PDB ID 2cxk

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OCA

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