2ejm

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{{STRUCTURE_2ejm| PDB=2ejm | SCENE= }}
 
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===Solution structure of RUH-072, an apo-biotnyl domain form human acetyl coenzyme A carboxylase===
 
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==Disease==
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==Solution structure of RUH-072, an apo-biotnyl domain form human acetyl coenzyme A carboxylase==
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[[http://www.uniprot.org/uniprot/MCCA_HUMAN MCCA_HUMAN]] Defects in MCCC1 are the cause of methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:[http://omim.org/entry/210200 210200]]. An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency.<ref>PMID:11170888</ref><ref>PMID:11406611</ref><ref>PMID:11181649</ref><ref>PMID:22150417</ref>
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<StructureSection load='2ejm' size='340' side='right'caption='[[2ejm]]' scene=''>
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== Structural highlights ==
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==About this Structure==
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<table><tr><td colspan='2'>[[2ejm]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2EJM OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2EJM FirstGlance]. <br>
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[[2ejm]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2EJM OCA].
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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr>
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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=2ejm FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ejm OCA], [https://pdbe.org/2ejm PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2ejm RCSB], [https://www.ebi.ac.uk/pdbsum/2ejm PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2ejm ProSAT], [https://www.topsan.org/Proteins/RSGI/2ejm TOPSAN]</span></td></tr>
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==Reference==
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</table>
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<references group="xtra"/><references/>
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== Disease ==
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[https://www.uniprot.org/uniprot/MCCA_HUMAN MCCA_HUMAN] Defects in MCCC1 are the cause of methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:[https://omim.org/entry/210200 210200]. An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency.<ref>PMID:11170888</ref> <ref>PMID:11406611</ref> <ref>PMID:11181649</ref> <ref>PMID:22150417</ref>
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== Function ==
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[https://www.uniprot.org/uniprot/MCCA_HUMAN MCCA_HUMAN]
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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/ej/2ejm_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=2ejm 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>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Methylcrotonoyl-CoA carboxylase]]
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[[Category: Large Structures]]
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[[Category: Hayashi, F.]]
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[[Category: Hayashi F]]
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[[Category: Hirota, H.]]
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[[Category: Hirota H]]
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[[Category: Momen, A Z.M Ruhul.]]
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[[Category: Ruhul Momen AZM]]
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[[Category: RSGI, RIKEN Structural Genomics/Proteomics Initiative.]]
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[[Category: Yokoyama S]]
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[[Category: Yokoyama, S.]]
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[[Category: Actyl coa carboxylase]]
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[[Category: Biotin]]
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[[Category: Biotin-requiring enzyme]]
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[[Category: Fatty acid synthesis]]
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[[Category: Ligase]]
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[[Category: National project on protein structural and functional analyse]]
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[[Category: Nppsfa]]
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[[Category: Riken structural genomics/proteomics initiative]]
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[[Category: Rsgi]]
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[[Category: Structural genomic]]
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Current revision

Solution structure of RUH-072, an apo-biotnyl domain form human acetyl coenzyme A carboxylase

PDB ID 2ejm

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