3i2b

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{{STRUCTURE_3i2b| PDB=3i2b | SCENE= }}
 
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===The crystal structure of human 6 Pyruvoyl Tetrahydrobiopterin Synthase===
 
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==Disease==
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==The crystal structure of human 6 Pyruvoyl Tetrahydrobiopterin Synthase==
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[[http://www.uniprot.org/uniprot/PTPS_HUMAN PTPS_HUMAN]] Defects in PTS are the cause of BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:[http://omim.org/entry/261640 261640]]; also called 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS deficiency) or hyperphenylalaninemia tetrahydrobiopterin-deficient due to PTS deficiency. HPABH4A is an autosomal recessive disorder characterized by depletion of the neurotransmitters dopamine and serotonin, and clinically by severe neurological symptoms unresponsive to the classic phenylalanine-low diet.<ref>PMID:10531334</ref><ref>PMID:7698774</ref><ref>PMID:8178819</ref><ref>PMID:7493990</ref><ref>PMID:8707300</ref><ref>PMID:9222757</ref><ref>PMID:9159737</ref><ref>PMID:9450907</ref><ref>PMID:10585341</ref><ref>PMID:10220141</ref><ref>PMID:10874306</ref><ref>PMID:11388593</ref>
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<StructureSection load='3i2b' size='340' side='right'caption='[[3i2b]], [[Resolution|resolution]] 2.30&Aring;' scene=''>
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== Structural highlights ==
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==Function==
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<table><tr><td colspan='2'>[[3i2b]] is a 12 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=3I2B OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3I2B FirstGlance]. <br>
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[[http://www.uniprot.org/uniprot/PTPS_HUMAN PTPS_HUMAN]] Involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6-pyruvoyl tetrahydropterin.
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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]] 2.3&#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>, <scene name='pdbligand=MG:MAGNESIUM+ION'>MG</scene>, <scene name='pdbligand=NI:NICKEL+(II)+ION'>NI</scene>, <scene name='pdbligand=PEG:DI(HYDROXYETHYL)ETHER'>PEG</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=3i2b FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3i2b OCA], [https://pdbe.org/3i2b PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3i2b RCSB], [https://www.ebi.ac.uk/pdbsum/3i2b PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3i2b ProSAT]</span></td></tr>
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[[3i2b]] is a 12 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=3I2B OCA].
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</table>
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== Disease ==
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==Reference==
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[https://www.uniprot.org/uniprot/PTPS_HUMAN PTPS_HUMAN] Defects in PTS are the cause of BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:[https://omim.org/entry/261640 261640]; also called 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS deficiency) or hyperphenylalaninemia tetrahydrobiopterin-deficient due to PTS deficiency. HPABH4A is an autosomal recessive disorder characterized by depletion of the neurotransmitters dopamine and serotonin, and clinically by severe neurological symptoms unresponsive to the classic phenylalanine-low diet.<ref>PMID:10531334</ref> <ref>PMID:7698774</ref> <ref>PMID:8178819</ref> <ref>PMID:7493990</ref> <ref>PMID:8707300</ref> <ref>PMID:9222757</ref> <ref>PMID:9159737</ref> <ref>PMID:9450907</ref> <ref>PMID:10585341</ref> <ref>PMID:10220141</ref> <ref>PMID:10874306</ref> <ref>PMID:11388593</ref>
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<references group="xtra"/><references/>
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== Function ==
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[[Category: 6-pyruvoyltetrahydropterin synthase]]
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[https://www.uniprot.org/uniprot/PTPS_HUMAN PTPS_HUMAN] Involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6-pyruvoyl tetrahydropterin.
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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/i2/3i2b_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=3i2b 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: Arrowsmith, C H.]]
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[[Category: Large Structures]]
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[[Category: Bountra, C.]]
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[[Category: Arrowsmith CH]]
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[[Category: Bray, J E.]]
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[[Category: Bountra C]]
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[[Category: Chaikuad, A.]]
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[[Category: Bray JE]]
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[[Category: Cocking, R.]]
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[[Category: Chaikuad A]]
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[[Category: Delft, F von.]]
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[[Category: Cocking R]]
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[[Category: Edwards, A.]]
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[[Category: Edwards A]]
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[[Category: Krojer, T.]]
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[[Category: Krojer T]]
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[[Category: Muniz, J.]]
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[[Category: Muniz J]]
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[[Category: Oppermann, U.]]
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[[Category: Oppermann U]]
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[[Category: Pilka, E.]]
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[[Category: Pilka E]]
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[[Category: SGC, Structural Genomics Consortium.]]
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[[Category: Ugochukwu E]]
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[[Category: Ugochukwu, E.]]
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[[Category: Weigelt J]]
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[[Category: Weigelt, J.]]
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[[Category: Yue WW]]
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[[Category: Yue, W W.]]
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[[Category: Von Delft F]]
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[[Category: 6 pyruvoyl tetrahydrobiopterin synthase]]
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[[Category: Disease mutation]]
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[[Category: Lyase]]
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[[Category: Metal-binding]]
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[[Category: Phenylketonuria]]
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[[Category: Phosphoprotein]]
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[[Category: Ptp synthase]]
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[[Category: Pt]]
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[[Category: Sgc]]
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[[Category: Structural genomic]]
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[[Category: Structural genomics consortium]]
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[[Category: Tetrahydrobiopterin biosynthesis]]
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Current revision

The crystal structure of human 6 Pyruvoyl Tetrahydrobiopterin Synthase

PDB ID 3i2b

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