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<StructureSection load='1fvo' size='340' side='right'caption='[[1fvo]], [[Resolution|resolution]] 2.60&Aring;' scene=''>
<StructureSection load='1fvo' size='340' side='right'caption='[[1fvo]], [[Resolution|resolution]] 2.60&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[1fvo]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1FVO OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1FVO FirstGlance]. <br>
<table><tr><td colspan='2'>[[1fvo]] 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=1FVO OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1FVO FirstGlance]. <br>
</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></td></tr>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.6&#8491;</td></tr>
<tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat"><div style='overflow: auto; max-height: 3em;'>[[1ep9|1ep9]], [[1c9y|1c9y]], [[1oth|1oth]]</div></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></td></tr>
<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[https://en.wikipedia.org/wiki/Ornithine_carbamoyltransferase Ornithine carbamoyltransferase], with EC number [https://www.brenda-enzymes.info/php/result_flat.php4?ecno=2.1.3.3 2.1.3.3] </span></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=1fvo FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1fvo OCA], [https://pdbe.org/1fvo PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1fvo RCSB], [https://www.ebi.ac.uk/pdbsum/1fvo PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1fvo ProSAT]</span></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=1fvo FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1fvo OCA], [https://pdbe.org/1fvo PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1fvo RCSB], [https://www.ebi.ac.uk/pdbsum/1fvo PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1fvo ProSAT]</span></td></tr>
</table>
</table>
== Disease ==
== 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>
[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 ==
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
[[Image:Consurf_key_small.gif|200px|right]]
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__TOC__
__TOC__
</StructureSection>
</StructureSection>
[[Category: Human]]
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Large Structures]]
[[Category: Ornithine carbamoyltransferase]]
[[Category: Allewell NM]]
[[Category: Allewell, N M]]
[[Category: Morizono H]]
[[Category: Morizono, H]]
[[Category: Shi D]]
[[Category: Shi, D]]
[[Category: Tuchman M]]
[[Category: Tuchman, M]]
[[Category: Yu X]]
[[Category: Yu, X]]
[[Category: Alpha/beta topology]]
[[Category: Transferase]]
[[Category: Two domain]]

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