3jui

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{{STRUCTURE_3jui| PDB=3jui | SCENE= }}
 
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===Crystal Structure of the C-terminal Domain of Human Translation Initiation Factor eIF2B epsilon Subunit===
 
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{{ABSTRACT_PUBMED_021204011}}
 
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==Disease==
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==Crystal Structure of the C-terminal Domain of Human Translation Initiation Factor eIF2B epsilon Subunit==
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[[http://www.uniprot.org/uniprot/EI2BE_HUMAN EI2BE_HUMAN]] Defects in EIF2B5 are a cause of leukodystrophy with vanishing white matter (VWM) [MIM:[http://omim.org/entry/603896 603896]]. VWM is a leukodystrophy that occurs mainly in children. Neurological signs include progressive cerebellar ataxia, spasticity, inconstant optic atrophy and relatively preserved mental abilities. The disease is chronic-progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. While childhood onset is the most common form of the disorder, some severe forms are apparent at birth. A severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba is called Cree leukoencephalopathy. Milder forms may not become evident until adolescence or adulthood. Some females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.<ref>PMID:11704758</ref><ref>PMID:12325082</ref><ref>PMID:12707859</ref><ref>PMID:15776425</ref><ref>PMID:19158808</ref><ref>PMID:21484434</ref>
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<StructureSection load='3jui' size='340' side='right'caption='[[3jui]], [[Resolution|resolution]] 2.00&Aring;' scene=''>
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== Structural highlights ==
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==Function==
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<table><tr><td colspan='2'>[[3jui]] 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=3JUI OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3JUI FirstGlance]. <br>
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[[http://www.uniprot.org/uniprot/EI2BE_HUMAN EI2BE_HUMAN]] Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.
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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=GOL:GLYCEROL'>GOL</scene></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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==About this Structure==
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<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">EIF2B5, EIF2BE ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
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[[3jui]] is a 1 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=3JUI OCA].
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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=3jui FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3jui OCA], [https://pdbe.org/3jui PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3jui RCSB], [https://www.ebi.ac.uk/pdbsum/3jui PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3jui ProSAT]</span></td></tr>
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</table>
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==Reference==
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== Disease ==
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<references group="xtra"/><references/>
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[[https://www.uniprot.org/uniprot/EI2BE_HUMAN EI2BE_HUMAN]] Defects in EIF2B5 are a cause of leukodystrophy with vanishing white matter (VWM) [MIM:[https://omim.org/entry/603896 603896]]. VWM is a leukodystrophy that occurs mainly in children. Neurological signs include progressive cerebellar ataxia, spasticity, inconstant optic atrophy and relatively preserved mental abilities. The disease is chronic-progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. While childhood onset is the most common form of the disorder, some severe forms are apparent at birth. A severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba is called Cree leukoencephalopathy. Milder forms may not become evident until adolescence or adulthood. Some females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.<ref>PMID:11704758</ref> <ref>PMID:12325082</ref> <ref>PMID:12707859</ref> <ref>PMID:15776425</ref> <ref>PMID:19158808</ref> <ref>PMID:21484434</ref>
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[[Category: Homo sapiens]]
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== Function ==
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[[Category: Gao, F.]]
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[[https://www.uniprot.org/uniprot/EI2BE_HUMAN EI2BE_HUMAN]] Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.
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[[Category: Gong, W.]]
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== Evolutionary Conservation ==
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[[Category: Wang, M.]]
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[[Image:Consurf_key_small.gif|200px|right]]
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[[Category: Wei, J.]]
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Check<jmol>
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[[Category: Xu, H.]]
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<jmolCheckbox>
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[[Category: Zhang, C.]]
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<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/ju/3jui_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/main_output.php?pdb_ID=3jui 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>
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[[Category: Human]]
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[[Category: Large Structures]]
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[[Category: Gao, F]]
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[[Category: Gong, W]]
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[[Category: Wang, M]]
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[[Category: Wei, J]]
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[[Category: Xu, H]]
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[[Category: Zhang, C]]
[[Category: Disease mutation]]
[[Category: Disease mutation]]
[[Category: Guanine nucleotide exchange factor]]
[[Category: Guanine nucleotide exchange factor]]

Current revision

Crystal Structure of the C-terminal Domain of Human Translation Initiation Factor eIF2B epsilon Subunit

PDB ID 3jui

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