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3e04

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{{STRUCTURE_3e04| PDB=3e04 | SCENE= }}
 
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===Crystal structure of human fumarate hydratase===
 
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==Disease==
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==Crystal structure of human fumarate hydratase==
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[[http://www.uniprot.org/uniprot/FUMH_HUMAN FUMH_HUMAN]] Defects in FH are the cause of fumarase deficiency (FHD) [MIM:[http://omim.org/entry/606812 606812]]; also known as fumaricaciduria. FHD is characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia.[:]<ref>PMID:9635293</ref> Defects in FH are the cause of hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:[http://omim.org/entry/150800 150800]]. A disorder characterized by predisposition to cutaneous and uterine leiomyomas, and papillary type 2 renal cancer which occurs in about 20% of patients.<ref>PMID:11865300</ref>
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<StructureSection load='3e04' size='340' side='right'caption='[[3e04]], [[Resolution|resolution]] 1.95&Aring;' scene=''>
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== Structural highlights ==
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==Function==
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<table><tr><td colspan='2'>[[3e04]] is a 4 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3E04 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3E04 FirstGlance]. <br>
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[[http://www.uniprot.org/uniprot/FUMH_HUMAN FUMH_HUMAN]] Also acts as a tumor suppressor.
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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.95&#8491;</td></tr>
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<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=EDO:1,2-ETHANEDIOL'>EDO</scene></td></tr>
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==About this Structure==
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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=3e04 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3e04 OCA], [https://pdbe.org/3e04 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3e04 RCSB], [https://www.ebi.ac.uk/pdbsum/3e04 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3e04 ProSAT]</span></td></tr>
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[[3e04]] is a 4 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=3E04 OCA].
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</table>
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== Disease ==
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[https://www.uniprot.org/uniprot/FUMH_HUMAN FUMH_HUMAN] Defects in FH are the cause of fumarase deficiency (FHD) [MIM:[https://omim.org/entry/606812 606812]; also known as fumaricaciduria. FHD is characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia.[:]<ref>PMID:9635293</ref> Defects in FH are the cause of hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:[https://omim.org/entry/150800 150800]. A disorder characterized by predisposition to cutaneous and uterine leiomyomas, and papillary type 2 renal cancer which occurs in about 20% of patients.<ref>PMID:11865300</ref>
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== Function ==
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[https://www.uniprot.org/uniprot/FUMH_HUMAN FUMH_HUMAN] Also acts as a tumor suppressor.
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== Evolutionary Conservation ==
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[[Image:Consurf_key_small.gif|200px|right]]
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Check<jmol>
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<jmolCheckbox>
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<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/e0/3e04_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=3e04 ConSurf].
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<div style="clear:both"></div>
==See Also==
==See Also==
*[[Fumarase|Fumarase]]
*[[Fumarase|Fumarase]]
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== References ==
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==Reference==
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<references/>
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<references group="xtra"/><references/>
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__TOC__
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[[Category: Fumarate hydratase]]
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Kavanagh, K L.]]
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[[Category: Large Structures]]
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[[Category: Oppermann, U.]]
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[[Category: Kavanagh KL]]
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[[Category: SGC, Structural Genomics Consortium.]]
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[[Category: Oppermann U]]
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[[Category: Alternative initiation]]
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[[Category: Anti-oncogene]]
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[[Category: Cell cycle]]
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[[Category: Disease mutation]]
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[[Category: Fumarase]]
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[[Category: Lyase]]
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[[Category: Mitochondrion]]
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[[Category: Sgc]]
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[[Category: Structural genomics consortium]]
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[[Category: Tca cycle]]
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[[Category: Transit peptide]]
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[[Category: Tricarboxylic acid cycle]]
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Current revision

Crystal structure of human fumarate hydratase

PDB ID 3e04

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