2fy3
From Proteopedia
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==Structures of ligand bound human choline acetyltransferase provides insight into regulation of acetylcholine synthesis==  | ==Structures of ligand bound human choline acetyltransferase provides insight into regulation of acetylcholine synthesis==  | ||
| - | <StructureSection load='2fy3' size='340' side='right' caption='[[2fy3]], [[Resolution|resolution]] 2.27Å' scene=''>  | + | <StructureSection load='2fy3' size='340' side='right'caption='[[2fy3]], [[Resolution|resolution]] 2.27Å' scene=''>  | 
== Structural highlights ==  | == Structural highlights ==  | ||
| - | <table><tr><td colspan='2'>[[2fy3]] is a 1 chain structure with sequence from [  | + | <table><tr><td colspan='2'>[[2fy3]] is a 1 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=2FY3 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2FY3 FirstGlance]. <br>  | 
| - | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=CHT:CHOLINE+ION'>CHT</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene></td></tr>  | + | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CHT:CHOLINE+ION'>CHT</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene></td></tr>  | 
| - | <tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[1fy2|1fy2]], [[1fy4|1fy4]], [[1fy5|1fy5]]</td></tr>  | + | <tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat"><div style='overflow: auto; max-height: 3em;'>[[1fy2|1fy2]], [[1fy4|1fy4]], [[1fy5|1fy5]]</div></td></tr>  | 
| - | <tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">CHAT ([  | + | <tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">CHAT ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>  | 
| - | <tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[  | + | <tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[https://en.wikipedia.org/wiki/Choline_O-acetyltransferase Choline O-acetyltransferase], with EC number [https://www.brenda-enzymes.info/php/result_flat.php4?ecno=2.3.1.6 2.3.1.6] </span></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=2fy3 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2fy3 OCA], [https://pdbe.org/2fy3 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2fy3 RCSB], [https://www.ebi.ac.uk/pdbsum/2fy3 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2fy3 ProSAT]</span></td></tr>  | 
</table>  | </table>  | ||
== Disease ==  | == Disease ==  | ||
| - | [[  | + | [[https://www.uniprot.org/uniprot/CLAT_HUMAN CLAT_HUMAN]] Defects in CHAT are the cause of congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:[https://omim.org/entry/254210 254210]]; formerly known as familial infantile myasthenia gravis 2 (FIMG2). CMSEA is an autosomal recessive congenital myasthenic syndrome. Patients have myasthenic symptoms since birth or early infancy, negative tests for anti-AChR antibodies, and abrupt episodic crises with increased weakness, bulbar paralysis, and apnea precipitated by undue exertion, fever, or excitement.<ref>PMID:11172068</ref> <ref>PMID:12756141</ref>    | 
== Function ==  | == Function ==  | ||
| - | [[  | + | [[https://www.uniprot.org/uniprot/CLAT_HUMAN CLAT_HUMAN]] Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.   | 
== Evolutionary Conservation ==  | == Evolutionary Conservation ==  | ||
[[Image:Consurf_key_small.gif|200px|right]]  | [[Image:Consurf_key_small.gif|200px|right]]  | ||
Check<jmol>  | Check<jmol>  | ||
  <jmolCheckbox>  |   <jmolCheckbox>  | ||
| - |     <scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/fy/2fy3_consurf.spt"</scriptWhenChecked>  | + |     <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/fy/2fy3_consurf.spt"</scriptWhenChecked>  | 
    <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>  |     <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>  | ||
    <text>to colour the structure by Evolutionary Conservation</text>  |     <text>to colour the structure by Evolutionary Conservation</text>  | ||
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</div>  | </div>  | ||
<div class="pdbe-citations 2fy3" style="background-color:#fffaf0;"></div>  | <div class="pdbe-citations 2fy3" style="background-color:#fffaf0;"></div>  | ||
| + | |||
| + | ==See Also==  | ||
| + | *[[Choline O-acetyltransferase|Choline O-acetyltransferase]]  | ||
== References ==  | == References ==  | ||
<references/>  | <references/>  | ||
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[[Category: Choline O-acetyltransferase]]  | [[Category: Choline O-acetyltransferase]]  | ||
[[Category: Human]]  | [[Category: Human]]  | ||
| + | [[Category: Large Structures]]  | ||
[[Category: Kim, A R]]  | [[Category: Kim, A R]]  | ||
[[Category: Rylett, R J]]  | [[Category: Rylett, R J]]  | ||
Revision as of 15:35, 3 March 2021
Structures of ligand bound human choline acetyltransferase provides insight into regulation of acetylcholine synthesis
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