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4x44

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'''Unreleased structure'''
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==Crystal Structure of Mutant R89Q of human Adenine phosphoribosyltransferase==
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<StructureSection load='4x44' size='340' side='right' caption='[[4x44]], [[Resolution|resolution]] 2.05&Aring;' scene=''>
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The entry 4x44 is ON HOLD until Dec 02 2016
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== Structural highlights ==
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<table><tr><td colspan='2'>[[4x44]] is a 1 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4X44 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4X44 FirstGlance]. <br>
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Authors: Pimenta, A., Pereira, H.M., Mercaldi, G., Thiemann, O.H.
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</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=AMP:ADENOSINE+MONOPHOSPHATE'>AMP</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene></td></tr>
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<tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[4x45|4x45]]</td></tr>
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Description: Crystal Structure of Mutant R89Q of human Adenine phosphoribosyltransferase
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<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase Adenine phosphoribosyltransferase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=2.4.2.7 2.4.2.7] </span></td></tr>
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[[Category: Unreleased Structures]]
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<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=4x44 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4x44 OCA], [http://pdbe.org/4x44 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=4x44 RCSB], [http://www.ebi.ac.uk/pdbsum/4x44 PDBsum]</span></td></tr>
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[[Category: Pereira, H.M]]
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</table>
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== Disease ==
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[[http://www.uniprot.org/uniprot/APT_HUMAN APT_HUMAN]] Defects in APRT are the cause of adenine phosphoribosyltransferase deficiency (APRTD) [MIM:[http://omim.org/entry/614723 614723]]; also known as 2,8-dihydroxyadenine urolithiasis. An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones.<ref>PMID:1746557</ref> <ref>PMID:7915931</ref> <ref>PMID:3680503</ref> <ref>PMID:3343350</ref> <ref>PMID:1353080</ref> <ref>PMID:11243733</ref> <ref>PMID:15571218</ref> <ref>PMID:21635362</ref>
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== Function ==
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[[http://www.uniprot.org/uniprot/APT_HUMAN APT_HUMAN]] Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.
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== References ==
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<references/>
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__TOC__
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</StructureSection>
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[[Category: Adenine phosphoribosyltransferase]]
[[Category: Mercaldi, G]]
[[Category: Mercaldi, G]]
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[[Category: Thiemann, O.H]]
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[[Category: Pereira, H M]]
[[Category: Pimenta, A]]
[[Category: Pimenta, A]]
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[[Category: Thiemann, O H]]
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[[Category: Aprt]]
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[[Category: Transferase]]

Revision as of 16:15, 2 December 2015

Crystal Structure of Mutant R89Q of human Adenine phosphoribosyltransferase

4x44, resolution 2.05Å

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