3orh

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{{STRUCTURE_3orh| PDB=3orh | SCENE= }}
 
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===Human guanidinoacetate N-methyltransferase with SAH===
 
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==Disease==
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==Human guanidinoacetate N-methyltransferase with SAH==
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[[http://www.uniprot.org/uniprot/GAMT_HUMAN GAMT_HUMAN]] Guanidinoacetate methyltransferase deficiency. Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:[http://omim.org/entry/612736 612736]]: Autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances, severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid (GAA) in brain and body fluids. Note=The disease is caused by mutations affecting the gene represented in this entry.
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<StructureSection load='3orh' size='340' side='right'caption='[[3orh]], [[Resolution|resolution]] 1.86&Aring;' scene=''>
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== Structural highlights ==
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==About this Structure==
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<table><tr><td colspan='2'>[[3orh]] is a 4 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. This structure supersedes the now removed PDB entry [http://oca.weizmann.ac.il/oca-bin/send-pdb?obs=1&id=1zx0 1zx0]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3ORH OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3ORH FirstGlance]. <br>
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[[3orh]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. This structure supersedes the now removed PDB entry [http://oca.weizmann.ac.il/oca-bin/send-pdb?obs=1&id=1zx0 1zx0]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3ORH OCA].
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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.86&#8491;</td></tr>
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[[Category: Guanidinoacetate N-methyltransferase]]
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<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=SAH:S-ADENOSYL-L-HOMOCYSTEINE'>SAH</scene></td></tr>
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=3orh FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3orh OCA], [https://pdbe.org/3orh PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3orh RCSB], [https://www.ebi.ac.uk/pdbsum/3orh PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3orh ProSAT]</span></td></tr>
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</table>
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== Disease ==
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[https://www.uniprot.org/uniprot/GAMT_HUMAN GAMT_HUMAN] Guanidinoacetate methyltransferase deficiency. Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:[https://omim.org/entry/612736 612736]: Autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances, severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid (GAA) in brain and body fluids. Note=The disease is caused by mutations affecting the gene represented in this entry.
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== Function ==
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[https://www.uniprot.org/uniprot/GAMT_HUMAN GAMT_HUMAN]
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== Evolutionary Conservation ==
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[[Image:Consurf_key_small.gif|200px|right]]
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Check<jmol>
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<jmolCheckbox>
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<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/or/3orh_consurf.spt"</scriptWhenChecked>
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<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
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<text>to colour the structure by Evolutionary Conservation</text>
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</jmolCheckbox>
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</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=3orh ConSurf].
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<div style="clear:both"></div>
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__TOC__
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Arrowsmith, C H.]]
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[[Category: Large Structures]]
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[[Category: Bochkarev, A.]]
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[[Category: Arrowsmith CH]]
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[[Category: Dong, A.]]
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[[Category: Bochkarev A]]
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[[Category: Edwards, A M.]]
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[[Category: Dong A]]
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[[Category: Loppnau, P.]]
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[[Category: Edwards AM]]
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[[Category: Plotnikov, A N.]]
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[[Category: Loppnau P]]
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[[Category: SGC, Structural Genomics Consortium.]]
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[[Category: Plotnikov AN]]
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[[Category: Sundstrom, M.]]
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[[Category: Sundstrom M]]
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[[Category: Wu, H.]]
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[[Category: Wu H]]
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[[Category: Zeng, H.]]
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[[Category: Zeng H]]
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[[Category: Guanidinoacetate n-methyltransferase]]
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[[Category: Sgc]]
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[[Category: Structural genomic]]
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[[Category: Structural genomics consortium]]
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[[Category: Transferase]]
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Current revision

Human guanidinoacetate N-methyltransferase with SAH

PDB ID 3orh

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