9hw2: Difference between revisions
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==Variant Q430N of Orotidine 5'-monophosphate decarboxylase-domain of human UMPS in resting state at 1.15 Angstrom resolution== | |||
<StructureSection load='9hw2' size='340' side='right'caption='[[9hw2]], [[Resolution|resolution]] 1.15Å' scene=''> | |||
== Structural highlights == | |||
<table><tr><td colspan='2'>[[9hw2]] 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=9HW2 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=9HW2 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]] 1.15Å</td></tr> | |||
[[Category: | <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=SO4:SULFATE+ION'>SO4</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=9hw2 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=9hw2 OCA], [https://pdbe.org/9hw2 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=9hw2 RCSB], [https://www.ebi.ac.uk/pdbsum/9hw2 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=9hw2 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]] | |||
Latest revision as of 07:02, 15 July 2026
Variant Q430N of Orotidine 5'-monophosphate decarboxylase-domain of human UMPS in resting state at 1.15 Angstrom resolution
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