3orh: Difference between revisions
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==Human guanidinoacetate N-methyltransferase with SAH== | |||
=== | <StructureSection load='3orh' size='340' side='right' caption='[[3orh]], [[Resolution|resolution]] 1.86Å' scene=''> | ||
== Structural highlights == | |||
==Disease== | <table><tr><td colspan='2'>[[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]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3ORH FirstGlance]. <br> | ||
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=SAH:S-ADENOSYL-L-HOMOCYSTEINE'>SAH</scene></td></tr> | |||
<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">GAMT ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr> | |||
<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Guanidinoacetate_N-methyltransferase Guanidinoacetate N-methyltransferase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=2.1.1.2 2.1.1.2] </span></td></tr> | |||
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3orh FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3orh OCA], [http://www.rcsb.org/pdb/explore.do?structureId=3orh RCSB], [http://www.ebi.ac.uk/pdbsum/3orh PDBsum]</span></td></tr> | |||
</table> | |||
== Disease == | |||
[[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. | [[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. | ||
== Function == | |||
== | == 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/chain_selection.php?pdb_ID=2ata ConSurf]. | |||
<div style="clear:both"></div> | |||
__TOC__ | |||
</StructureSection> | |||
[[Category: Guanidinoacetate N-methyltransferase]] | [[Category: Guanidinoacetate N-methyltransferase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Arrowsmith, C H | [[Category: Arrowsmith, C H]] | ||
[[Category: Bochkarev, A | [[Category: Bochkarev, A]] | ||
[[Category: Dong, A | [[Category: Dong, A]] | ||
[[Category: Edwards, A M | [[Category: Edwards, A M]] | ||
[[Category: Loppnau, P | [[Category: Loppnau, P]] | ||
[[Category: Plotnikov, A N | [[Category: Plotnikov, A N]] | ||
[[Category: | [[Category: Structural genomic]] | ||
[[Category: Sundstrom, M | [[Category: Sundstrom, M]] | ||
[[Category: Wu, H | [[Category: Wu, H]] | ||
[[Category: Zeng, H | [[Category: Zeng, H]] | ||
[[Category: Guanidinoacetate n-methyltransferase]] | [[Category: Guanidinoacetate n-methyltransferase]] | ||
[[Category: Sgc]] | [[Category: Sgc]] | ||
[[Category: Transferase]] | [[Category: Transferase]] | ||