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{{STRUCTURE_1zn9|  PDB=1zn9  |  SCENE=  }}
===Human Adenine Phosphoribosyltransferase in Apo and AMP Complexed Forms===
{{ABSTRACT_PUBMED_18399692}}


==Disease==
==Human Adenine Phosphoribosyltransferase in Apo and AMP Complexed Forms==
[[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>  
<StructureSection load='1zn9' size='340' side='right'caption='[[1zn9]], [[Resolution|resolution]] 2.05&Aring;' scene=''>
 
== Structural highlights ==
==Function==
<table><tr><td colspan='2'>[[1zn9]] is a 2 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=1ZN9 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1ZN9 FirstGlance]. <br>
[[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.  
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.05&#8491;</td></tr>
 
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=AMP:ADENOSINE+MONOPHOSPHATE'>AMP</scene></td></tr>
==About this Structure==
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=1zn9 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1zn9 OCA], [https://pdbe.org/1zn9 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1zn9 RCSB], [https://www.ebi.ac.uk/pdbsum/1zn9 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1zn9 ProSAT]</span></td></tr>
[[1zn9]] is a 2 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=1ZN9 OCA].  
</table>
== Disease ==
[https://www.uniprot.org/uniprot/APT_HUMAN APT_HUMAN] Defects in APRT are the cause of adenine phosphoribosyltransferase deficiency (APRTD) [MIM:[https://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>  
== Function ==
[https://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.
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
Check<jmol>
  <jmolCheckbox>
    <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/zn/1zn9_consurf.spt"</scriptWhenChecked>
    <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
    <text>to colour the structure by Evolutionary Conservation</text>
  </jmolCheckbox>
</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=1zn9 ConSurf].
<div style="clear:both"></div>


==See Also==
==See Also==
*[[Phosphoribosyltransferase|Phosphoribosyltransferase]]
*[[Phosphoribosyltransferase 3D structures|Phosphoribosyltransferase 3D structures]]
 
== References ==
==Reference==
<references/>
<ref group="xtra">PMID:018399692</ref><references group="xtra"/><references/>
__TOC__
[[Category: Adenine phosphoribosyltransferase]]
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Iulek, J.]]
[[Category: Large Structures]]
[[Category: Silva, M.]]
[[Category: Iulek J]]
[[Category: Thiemann, O H.]]
[[Category: Silva M]]
[[Category: Tomich, C H.T P.]]
[[Category: Thiemann OH]]
[[Category: Glycosyltransferase]]
[[Category: Tomich CHTP]]
[[Category: Purine salvage]]
[[Category: Transferase]]

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