View source for 9hqy


==Variant Q430N of Orotidine 5'-monophosphate decarboxylase-domain of human UMPS in complex with the product UMP at 1.07 Angstrom resolution==
<StructureSection load='9hqy' size='340' side='right'caption='[[9hqy]], [[Resolution|resolution]] 1.07&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[9hqy]] 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=9HQY OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=9HQY FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.07&#8491;</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CSS:S-MERCAPTOCYSTEINE'>CSS</scene>, <scene name='pdbligand=PRO:PROLINE'>PRO</scene>, <scene name='pdbligand=U5P:URIDINE-5-MONOPHOSPHATE'>U5P</scene></td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=9hqy FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=9hqy OCA], [https://pdbe.org/9hqy PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=9hqy RCSB], [https://www.ebi.ac.uk/pdbsum/9hqy PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=9hqy ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/UMPS_HUMAN UMPS_HUMAN] Defects in UMPS are the cause of orotic aciduria type 1 (ORAC1) [MIM:[https://omim.org/entry/258900 258900]. A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. A minority of cases have additional features, particularly congenital malformations and immune deficiencies.<ref>PMID:9042911</ref> 
== Function ==
[https://www.uniprot.org/uniprot/UMPS_HUMAN UMPS_HUMAN] 
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Kirck LL]]
[[Category: Tittmann K]]