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== | ==Human guanidinoacetate N-methyltransferase with SAH== | ||
[[http://www.uniprot.org/uniprot/GAMT_HUMAN GAMT_HUMAN | <StructureSection load='3orh' size='340' side='right'caption='[[3orh]], [[Resolution|resolution]] 1.86Å' scene=''> | ||
== Structural highlights == | |||
== | <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> | ||
[[ | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.86Å</td></tr> | ||
<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> | |||
<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> | |||
</table> | |||
== Disease == | |||
[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. | |||
== Function == | |||
[https://www.uniprot.org/uniprot/GAMT_HUMAN GAMT_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/or/3orh_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=3orh ConSurf]. | |||
<div style="clear:both"></div> | |||
__TOC__ | |||
</StructureSection> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Arrowsmith | [[Category: Large Structures]] | ||
[[Category: Bochkarev | [[Category: Arrowsmith CH]] | ||
[[Category: Dong | [[Category: Bochkarev A]] | ||
[[Category: Edwards | [[Category: Dong A]] | ||
[[Category: Loppnau | [[Category: Edwards AM]] | ||
[[Category: Plotnikov | [[Category: Loppnau P]] | ||
[[Category: Plotnikov AN]] | |||
[[Category: Sundstrom | [[Category: Sundstrom M]] | ||
[[Category: Wu | [[Category: Wu H]] | ||
[[Category: Zeng | [[Category: Zeng H]] | ||
Latest revision as of 12:43, 6 September 2023
Human guanidinoacetate N-methyltransferase with SAHHuman guanidinoacetate N-methyltransferase with SAH
Structural highlights
DiseaseGAMT_HUMAN Guanidinoacetate methyltransferase deficiency. Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM: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. FunctionEvolutionary Conservation Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. |
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