2ejm: Difference between revisions
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==Solution structure of RUH-072, an apo-biotnyl domain form human acetyl coenzyme A carboxylase== | ==Solution structure of RUH-072, an apo-biotnyl domain form human acetyl coenzyme A carboxylase== | ||
<StructureSection load='2ejm' size='340' side='right' caption='[[2ejm | <StructureSection load='2ejm' size='340' side='right'caption='[[2ejm]]' scene=''> | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[2ejm]] is a 1 chain structure with sequence from [ | <table><tr><td colspan='2'>[[2ejm]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2EJM OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2EJM FirstGlance]. <br> | ||
</td></tr><tr><td class="sblockLbl"><b>[[ | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr> | ||
<tr | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2ejm FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ejm OCA], [https://pdbe.org/2ejm PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2ejm RCSB], [https://www.ebi.ac.uk/pdbsum/2ejm PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2ejm ProSAT], [https://www.topsan.org/Proteins/RSGI/2ejm TOPSAN]</span></td></tr> | ||
</table> | |||
<table> | |||
== Disease == | == Disease == | ||
[ | [https://www.uniprot.org/uniprot/MCCA_HUMAN MCCA_HUMAN] Defects in MCCC1 are the cause of methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:[https://omim.org/entry/210200 210200]. An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency.<ref>PMID:11170888</ref> <ref>PMID:11406611</ref> <ref>PMID:11181649</ref> <ref>PMID:22150417</ref> | ||
== Function == | == Function == | ||
[https://www.uniprot.org/uniprot/MCCA_HUMAN MCCA_HUMAN] | |||
== Evolutionary Conservation == | == Evolutionary Conservation == | ||
[[Image:Consurf_key_small.gif|200px|right]] | [[Image:Consurf_key_small.gif|200px|right]] | ||
Check<jmol> | Check<jmol> | ||
<jmolCheckbox> | <jmolCheckbox> | ||
<scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/ej/2ejm_consurf.spt"</scriptWhenChecked> | <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/ej/2ejm_consurf.spt"</scriptWhenChecked> | ||
<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked> | <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked> | ||
<text>to colour the structure by Evolutionary Conservation</text> | <text>to colour the structure by Evolutionary Conservation</text> | ||
</jmolCheckbox> | </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/ | </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=2ejm ConSurf]. | ||
<div style="clear:both"></div> | <div style="clear:both"></div> | ||
== References == | == References == | ||
| Line 26: | Line 26: | ||
</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: | [[Category: Large Structures]] | ||
[[Category: Hayashi | [[Category: Hayashi F]] | ||
[[Category: Hirota | [[Category: Hirota H]] | ||
[[Category: Momen | [[Category: Ruhul Momen AZM]] | ||
[[Category: Yokoyama S]] | |||
[[Category: Yokoyama | |||