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2f2s

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{{STRUCTURE_2f2s| PDB=2f2s | SCENE= }}
 
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===Human mitochondrial acetoacetyl-CoA thiolase===
 
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==Disease==
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==Human mitochondrial acetoacetyl-CoA thiolase==
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[[http://www.uniprot.org/uniprot/THIL_HUMAN THIL_HUMAN]] Defects in ACAT1 are a cause of 3-ketothiolase deficiency (3KTD) [MIM:[http://omim.org/entry/203750 203750]]; also known as alpha-methylacetoaceticaciduria. 3KTD is an inborn error of isoleucine catabolism characterized by intermittent ketoacidotic attacks associated with unconsciousness. Some patients die during an attack or are mentally retarded. Urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, triglylglycine, butanone is increased. It seems likely that the severity of this disease correlates better with the environmental or acquired factors than with the ACAT1 genotype.<ref>PMID:1346617</ref><ref>PMID:1715688</ref><ref>PMID:7728148</ref><ref>PMID:9744475</ref>
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<StructureSection load='2f2s' size='340' side='right'caption='[[2f2s]], [[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'>[[2f2s]] is a 4 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. This structure supersedes the now removed PDB entry [http://oca.weizmann.ac.il/oca-bin/send-pdb?obs=1&id=2es8 2es8]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2F2S OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2F2S FirstGlance]. <br>
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[[http://www.uniprot.org/uniprot/THIL_HUMAN THIL_HUMAN]] Plays a major role in ketone body metabolism.
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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=CL:CHLORIDE+ION'>CL</scene>, <scene name='pdbligand=COA:COENZYME+A'>COA</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=SCY:S-ACETYL-CYSTEINE'>SCY</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">ACAT1, ACAT, MAT ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
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[[2f2s]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. This structure supersedes the now removed PDB entry [http://oca.weizmann.ac.il/oca-bin/send-pdb?obs=1&id=2es8 2es8]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2F2S OCA].
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<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[https://en.wikipedia.org/wiki/Acetyl-CoA_C-acetyltransferase Acetyl-CoA C-acetyltransferase], with EC number [https://www.brenda-enzymes.info/php/result_flat.php4?ecno=2.3.1.9 2.3.1.9] </span></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=2f2s FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2f2s OCA], [https://pdbe.org/2f2s PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2f2s RCSB], [https://www.ebi.ac.uk/pdbsum/2f2s PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2f2s ProSAT]</span></td></tr>
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</table>
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== Disease ==
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[[https://www.uniprot.org/uniprot/THIL_HUMAN THIL_HUMAN]] Defects in ACAT1 are a cause of 3-ketothiolase deficiency (3KTD) [MIM:[https://omim.org/entry/203750 203750]]; also known as alpha-methylacetoaceticaciduria. 3KTD is an inborn error of isoleucine catabolism characterized by intermittent ketoacidotic attacks associated with unconsciousness. Some patients die during an attack or are mentally retarded. Urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, triglylglycine, butanone is increased. It seems likely that the severity of this disease correlates better with the environmental or acquired factors than with the ACAT1 genotype.<ref>PMID:1346617</ref> <ref>PMID:1715688</ref> <ref>PMID:7728148</ref> <ref>PMID:9744475</ref>
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== Function ==
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[[https://www.uniprot.org/uniprot/THIL_HUMAN THIL_HUMAN]] Plays a major role in ketone body metabolism.
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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/f2/2f2s_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=2f2s ConSurf].
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<div style="clear:both"></div>
==See Also==
==See Also==
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*[[Thiolase|Thiolase]]
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*[[Thiolase 3D structures|Thiolase 3D structures]]
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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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</StructureSection>
[[Category: Acetyl-CoA C-acetyltransferase]]
[[Category: Acetyl-CoA C-acetyltransferase]]
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[[Category: Homo sapiens]]
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[[Category: Human]]
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[[Category: Antoshenko, T.]]
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[[Category: Large Structures]]
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[[Category: Arrowsmith, C H.]]
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[[Category: Antoshenko, T]]
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[[Category: Bochkarev, A.]]
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[[Category: Arrowsmith, C H]]
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[[Category: Dombrovski, L.]]
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[[Category: Bochkarev, A]]
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[[Category: Edwards, A M.]]
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[[Category: Dombrovski, L]]
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[[Category: Loppnau, P.]]
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[[Category: Edwards, A M]]
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[[Category: Min, J R.]]
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[[Category: Loppnau, P]]
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[[Category: Plotnikov, A N.]]
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[[Category: Min, J R]]
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[[Category: SGC, Structural Genomics Consortium.]]
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[[Category: Plotnikov, A N]]
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[[Category: Sundstrom, M.]]
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[[Category: Structural genomic]]
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[[Category: Weigelt, J.]]
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[[Category: Sundstrom, M]]
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[[Category: Wu, H.]]
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[[Category: Weigelt, J]]
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[[Category: Wu, H]]
[[Category: Acat1]]
[[Category: Acat1]]
[[Category: Acetyl-coenzyme a acetyltransferase 1]]
[[Category: Acetyl-coenzyme a acetyltransferase 1]]
[[Category: Mat]]
[[Category: Mat]]
[[Category: Sgc]]
[[Category: Sgc]]
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[[Category: Structural genomic]]
 
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[[Category: Structural genomics consortium]]
 
[[Category: T2]]
[[Category: T2]]
[[Category: Thil]]
[[Category: Thil]]
[[Category: Transferase]]
[[Category: Transferase]]

Current revision

Human mitochondrial acetoacetyl-CoA thiolase

PDB ID 2f2s

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