2jdx: Difference between revisions
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<StructureSection load='2jdx' size='340' side='right'caption='[[2jdx]], [[Resolution|resolution]] 2.90Å' scene=''> | <StructureSection load='2jdx' size='340' side='right'caption='[[2jdx]], [[Resolution|resolution]] 2.90Å' scene=''> | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[2jdx]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/ | <table><tr><td colspan='2'>[[2jdx]] 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=2JDX OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2JDX FirstGlance]. <br> | ||
</td></tr><tr id=' | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.9Å</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=2jdx FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2jdx OCA], [https://pdbe.org/2jdx PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2jdx RCSB], [https://www.ebi.ac.uk/pdbsum/2jdx PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2jdx 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=2jdx FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2jdx OCA], [https://pdbe.org/2jdx PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2jdx RCSB], [https://www.ebi.ac.uk/pdbsum/2jdx PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2jdx ProSAT]</span></td></tr> | ||
</table> | </table> | ||
== Disease == | == Disease == | ||
[https://www.uniprot.org/uniprot/GATM_HUMAN GATM_HUMAN] Defects in GATM are the cause of arginine:glycine amidinotransferase deficiency (AGAT deficiency) [MIM:[https://omim.org/entry/612718 612718]. AGAT deficiency is an autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. | |||
== Function == | == Function == | ||
[https://www.uniprot.org/uniprot/GATM_HUMAN GATM_HUMAN] Catalyzes the biosynthesis of guanidinoacetate, the immediate precursor of creatine. Creatine plays a vital role in energy metabolism in muscle tissues. May play a role in embryonic and central nervous system development. May be involved in the response to heart failure by elevating local creatine synthesis.<ref>PMID:16820567</ref> <ref>PMID:16125225</ref> <ref>PMID:16614068</ref> | |||
== 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: | [[Category: Homo sapiens]] | ||
[[Category: Large Structures]] | [[Category: Large Structures]] | ||
[[Category: Fritsche | [[Category: Fritsche E]] | ||
[[Category: Huber | [[Category: Huber R]] | ||
[[Category: Humm | [[Category: Humm A]] | ||