2cxk
From Proteopedia
(Difference between revisions)
Line 1: | Line 1: | ||
==Crystal structure of the TIG domain of human calmodulin-binding transcription activator 1 (CAMTA1)== | ==Crystal structure of the TIG domain of human calmodulin-binding transcription activator 1 (CAMTA1)== | ||
- | <StructureSection load='2cxk' size='340' side='right' caption='[[2cxk]], [[Resolution|resolution]] 1.85Å' scene=''> | + | <StructureSection load='2cxk' size='340' side='right'caption='[[2cxk]], [[Resolution|resolution]] 1.85Å' scene=''> |
== Structural highlights == | == Structural highlights == | ||
- | <table><tr><td colspan='2'>[[2cxk]] is a 5 chain structure with sequence from [ | + | <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> |
- | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene></td></tr> | + | </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> |
<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> | <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> | ||
- | <tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">CAMTA1 ([ | + | <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> |
- | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[ | + | <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 == | ||
- | [[ | + | [[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 == | ||
- | [[ | + | [[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]] | ||
Line 28: | Line 28: | ||
</StructureSection> | </StructureSection> | ||
[[Category: Human]] | [[Category: Human]] | ||
+ | [[Category: Large Structures]] | ||
[[Category: Murayama, K]] | [[Category: Murayama, K]] | ||
[[Category: Pioszak, A A]] | [[Category: Pioszak, A A]] |
Revision as of 11:52, 3 February 2021
Crystal structure of the TIG domain of human calmodulin-binding transcription activator 1 (CAMTA1)
|