3jui

From Proteopedia

(Difference between revisions)

Revision as of 17:44, 18 December 2014

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

Structural highlights

3jui is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Ligands:
NonStd Res:
Gene:	EIF2B5, EIF2BE (Homo sapiens)
Resources:	FirstGlance, OCA, RCSB, PDBsum

Disease

[EI2BE_HUMAN] Defects in EIF2B5 are a cause of leukodystrophy with vanishing white matter (VWM) [MIM: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.^[1] ^[2] ^[3] ^[4] ^[5] ^[6]

Function

[EI2BE_HUMAN] Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.

Evolutionary Conservation

Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

References

↑ Leegwater PA, Vermeulen G, Konst AA, Naidu S, Mulders J, Visser A, Kersbergen P, Mobach D, Fonds D, van Berkel CG, Lemmers RJ, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS. Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nat Genet. 2001 Dec;29(4):383-8. PMID:11704758 doi:10.1038/ng764
↑ Fogli A, Wong K, Eymard-Pierre E, Wenger J, Bouffard JP, Goldin E, Black DN, Boespflug-Tanguy O, Schiffmann R. Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. Ann Neurol. 2002 Oct;52(4):506-10. PMID:12325082 doi:10.1002/ana.10339
↑ Fogli A, Rodriguez D, Eymard-Pierre E, Bouhour F, Labauge P, Meaney BF, Zeesman S, Kaneski CR, Schiffmann R, Boespflug-Tanguy O. Ovarian failure related to eukaryotic initiation factor 2B mutations. Am J Hum Genet. 2003 Jun;72(6):1544-50. Epub 2003 Apr 21. PMID:12707859 doi:10.1086/375404
↑ Ohlenbusch A, Henneke M, Brockmann K, Goerg M, Hanefeld F, Kohlschutter A, Gartner J. Identification of ten novel mutations in patients with eIF2B-related disorders. Hum Mutat. 2005 Apr;25(4):411. PMID:15776425 doi:10.1002/humu.9325
↑ Wu Y, Pan Y, Du L, Wang J, Gu Q, Gao Z, Li J, Leng X, Qin J, Wu X, Jiang Y. Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease. J Hum Genet. 2009 Feb;54(2):74-7. doi: 10.1038/jhg.2008.10. Epub 2009 Jan 16. PMID:19158808 doi:10.1038/jhg.2008.10
↑ Matsukawa T, Wang X, Liu R, Wortham NC, Onuki Y, Kubota A, Hida A, Kowa H, Fukuda Y, Ishiura H, Mitsui J, Takahashi Y, Aoki S, Takizawa S, Shimizu J, Goto J, Proud CG, Tsuji S. Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. Neurogenetics. 2011 Aug;12(3):259-61. doi: 10.1007/s10048-011-0284-7. Epub 2011, Apr 12. PMID:21484434 doi:10.1007/s10048-011-0284-7

1 Structural highlights
2 Disease
3 Function
4 Evolutionary Conservation
5 References

Proteopedia Page Contributors and Editors (what is this?)

OCA

Retrieved from "http://52.214.119.220/wiki/index.php/3jui"

@@ Line 1: / Line 1: @@
-{{STRUCTURE_3jui|  PDB=3jui  |  SCENE=  }}
+==Crystal Structure of the C-terminal Domain of Human Translation Initiation Factor eIF2B epsilon Subunit==
-===Crystal Structure of the C-terminal Domain of Human Translation Initiation Factor eIF2B epsilon Subunit===
+<StructureSection load='3jui' size='340' side='right' caption='[[3jui]], [[Resolution|resolution]] 2.00&Aring;' scene=''>
-{{ABSTRACT_PUBMED_021204011}}
+== Structural highlights ==
+<table><tr><td colspan='2'>[[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]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3JUI FirstGlance]. <br>
-==Disease==
+</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=GOL:GLYCEROL'>GOL</scene></td></tr>
-[[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>
+<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">EIF2B5, EIF2BE ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
-==Function==
+<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3jui FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3jui OCA], [http://www.rcsb.org/pdb/explore.do?structureId=3jui RCSB], [http://www.ebi.ac.uk/pdbsum/3jui PDBsum]</span></td></tr>
+</table>
+== Disease ==
+[[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>
+== Function ==
 [[http://www.uniprot.org/uniprot/EI2BE_HUMAN EI2BE_HUMAN]] Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.
+== Evolutionary Conservation ==
-==About this Structure==
+[[Image:Consurf_key_small.gif|200px|right]]
-[[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].
+Check<jmol>
+  <jmolCheckbox>
-==Reference==
+    <scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/ju/3jui_consurf.spt"</scriptWhenChecked>
-<references group="xtra"/><references/>
+    <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
+    <text>to colour the structure by Evolutionary Conservation</text>
+  </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/chain_selection.php?pdb_ID=2ata ConSurf].
+<div style="clear:both"></div>
+== References ==
+<references/>
+__TOC__
+</StructureSection>
 [[Category: Homo sapiens]]
-[[Category: Gao, F.]]
+[[Category: Gao, F]]
-[[Category: Gong, W.]]
+[[Category: Gong, W]]
-[[Category: Wang, M.]]
+[[Category: Wang, M]]
-[[Category: Wei, J.]]
+[[Category: Wei, J]]
-[[Category: Xu, H.]]
+[[Category: Xu, H]]
-[[Category: Zhang, C.]]
+[[Category: Zhang, C]]
 [[Category: Disease mutation]]
 [[Category: Guanine nucleotide exchange factor]]

3jui

From Proteopedia

Revision as of 17:44, 18 December 2014

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

Structural highlights

Disease

Function

Evolutionary Conservation

References

Contents

Proteopedia Page Contributors and Editors (what is this?)

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