View source for 1c9y


==HUMAN ORNITHINE TRANSCARBAMYLASE: CRYSTALLOGRAPHIC INSIGHTS INTO SUBSTRATE RECOGNITION AND CATALYTIC MECHANISM==
<StructureSection load='1c9y' size='340' side='right'caption='[[1c9y]], [[Resolution|resolution]] 1.90&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[1c9y]] is a 1 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=1C9Y OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1C9Y 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]] 1.9&#8491;</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CP:PHOSPHORIC+ACID+MONO(FORMAMIDE)ESTER'>CP</scene>, <scene name='pdbligand=NVA:NORVALINE'>NVA</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=1c9y FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1c9y OCA], [https://pdbe.org/1c9y PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1c9y RCSB], [https://www.ebi.ac.uk/pdbsum/1c9y PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1c9y ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/OTC_HUMAN OTC_HUMAN] Defects in OTC are the cause of ornithine carbamoyltransferase deficiency (OTCD) [MIM:[https://omim.org/entry/311250 311250]. OTCD is an X-linked disorder of the urea cycle which causes a form of hyperammonemia. Mutations with no residual enzyme activity are always expressed in hemizygote males by a very severe neonatal hyperammonemic coma that generally proves to be fatal. Heterozygous females are either asymptomatic or express orotic aciduria spontaneously or after protein intake. The disorder is treatable with supplemental dietary arginine and low protein diet. The arbitrary classification of patients into the 'neonatal' group (clinical hyperammonemia in the first few days of life) and 'late' onset (clinical presentation after the neonatal period) has been used to differentiate severe from mild forms.<ref>PMID:8081373</ref> <ref>PMID:3170748</ref> <ref>PMID:2474822</ref> <ref>PMID:2347583</ref> <ref>PMID:1671317</ref> <ref>PMID:1721894</ref> <ref>PMID:1480464</ref> <ref>PMID:8099056</ref> <ref>PMID:8019569</ref> <ref>PMID:8081398</ref> <ref>PMID:7951259</ref> <ref>PMID:8530002</ref> <ref>PMID:7474905</ref> <ref>PMID:8807340</ref> [:]<ref>PMID:8956038</ref> <ref>PMID:8956045</ref> <ref>PMID:8830175</ref> <ref>PMID:9286441</ref> <ref>PMID:9065786</ref> <ref>PMID:9143919</ref> <ref>PMID:9266388</ref> <ref>PMID:9452024</ref> <ref>PMID:9452049</ref> <ref>PMID:9452065</ref> [:]<ref>PMID:10502831</ref> <ref>PMID:10070627</ref> <ref>PMID:10737985</ref> <ref>PMID:11793483</ref> 
== Function ==
[https://www.uniprot.org/uniprot/OTC_HUMAN OTC_HUMAN] 
== 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/c9/1c9y_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=1c9y ConSurf].
<div style="clear:both"></div>

==See Also==
*[[Ornithine carbamoyltransferase 3D structures|Ornithine carbamoyltransferase 3D structures]]
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Allewell NM]]
[[Category: Morizono H]]
[[Category: Shi D]]
[[Category: Tuchman M]]
[[Category: Yu X]]