2ejm: Difference between revisions
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New page: left|200px<br /> <applet load="2ejm" size="450" color="white" frame="true" align="right" spinBox="true" caption="2ejm" /> '''Solution structure of RUH-072, an apo-biotn... |
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== | ==Solution structure of RUH-072, an apo-biotnyl domain form human acetyl coenzyme A carboxylase== | ||
<StructureSection load='2ejm' size='340' side='right'caption='[[2ejm]]' scene=''> | |||
== Structural highlights == | |||
== | <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 id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</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=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> | |||
== 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 == | |||
[https://www.uniprot.org/uniprot/MCCA_HUMAN MCCA_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/ej/2ejm_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=2ejm ConSurf]. | |||
<div style="clear:both"></div> | |||
== References == | |||
<references/> | |||
__TOC__ | |||
</StructureSection> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: | [[Category: Large Structures]] | ||
[[Category: Hayashi F]] | |||
[[Category: Hayashi | [[Category: Hirota H]] | ||
[[Category: Hirota | [[Category: Ruhul Momen AZM]] | ||
[[Category: Momen | [[Category: Yokoyama S]] | ||
[[Category: Yokoyama | |||
Latest revision as of 18:50, 29 May 2024
Solution structure of RUH-072, an apo-biotnyl domain form human acetyl coenzyme A carboxylase
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