2cxk
From Proteopedia
(Difference between revisions)
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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 == | ||
| - | [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 == | ||
| - | [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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<jmolCheckbox> | <jmolCheckbox> | ||
<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/cx/2cxk_consurf.spt"</scriptWhenChecked> | <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/cx/2cxk_consurf.spt"</scriptWhenChecked> | ||
| - | <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/ | + | <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview03.spt</scriptWhenUnchecked> |
<text>to colour the structure by Evolutionary Conservation</text> | <text>to colour the structure by Evolutionary Conservation</text> | ||
</jmolCheckbox> | </jmolCheckbox> | ||
</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/main_output.php?pdb_ID=2cxk ConSurf]. | </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/main_output.php?pdb_ID=2cxk ConSurf]. | ||
<div style="clear:both"></div> | <div style="clear:both"></div> | ||
| - | == References == | ||
| - | <references/> | ||
__TOC__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
Current revision
Crystal structure of the TIG domain of human calmodulin-binding transcription activator 1 (CAMTA1)
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