3lrq: Difference between revisions
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==Crystal structure of the U-box domain of human ubiquitin-protein ligase (E3), NORTHEAST STRUCTURAL GENOMICS CONSORTIUM TARGET HR4604D.== | |||
<StructureSection load='3lrq' size='340' side='right' caption='[[3lrq]], [[Resolution|resolution]] 2.29Å' scene=''> | |||
== Structural highlights == | |||
==Disease== | <table><tr><td colspan='2'>[[3lrq]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3LRQ OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3LRQ FirstGlance]. <br> | ||
[[http://www.uniprot.org/uniprot/TRI37_HUMAN TRI37_HUMAN]] Defects in TRIM37 are the cause of mulibrey nanism (MUL) [MIM:[http://omim.org/entry/253250 253250]]; also known as muscle-liver-brain-eye nanism. MUL is an autosomal recessive disorder that involves several tissues of mesodermal origin, implying a defect in a highly pleiotropic gene. Characteristic features include severe growth failure of prenatal onset and constrictive pericardium with consequent hepatomegaly. In addition, muscle hypotonia, J-shaped sella turcica, yellowish dots in the ocular fundi, typical dysmorphic features and hypoplasia of various endocrine glands causing hormonal deficiency are common.<ref>PMID:15885686</ref><ref>PMID:10888877</ref><ref>PMID:12754710</ref><ref>PMID:15108285</ref><ref>PMID:17100991</ref> | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=ZN:ZINC+ION'>ZN</scene></td></tr> | ||
<tr id='NonStdRes'><td class="sblockLbl"><b>[[Non-Standard_Residue|NonStd Res:]]</b></td><td class="sblockDat"><scene name='pdbligand=MSE:SELENOMETHIONINE'>MSE</scene></td></tr> | |||
==Function== | <tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">KIAA0898, MUL, POB1, TRIM37 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr> | ||
[[http://www.uniprot.org/uniprot/TRI37_HUMAN TRI37_HUMAN]] E3 ubiquitin-protein ligase.<ref>PMID:15885686</ref> | <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=3lrq FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3lrq OCA], [http://www.rcsb.org/pdb/explore.do?structureId=3lrq RCSB], [http://www.ebi.ac.uk/pdbsum/3lrq PDBsum]</span></td></tr> | ||
</table> | |||
== | == Disease == | ||
[[ | [[http://www.uniprot.org/uniprot/TRI37_HUMAN TRI37_HUMAN]] Defects in TRIM37 are the cause of mulibrey nanism (MUL) [MIM:[http://omim.org/entry/253250 253250]]; also known as muscle-liver-brain-eye nanism. MUL is an autosomal recessive disorder that involves several tissues of mesodermal origin, implying a defect in a highly pleiotropic gene. Characteristic features include severe growth failure of prenatal onset and constrictive pericardium with consequent hepatomegaly. In addition, muscle hypotonia, J-shaped sella turcica, yellowish dots in the ocular fundi, typical dysmorphic features and hypoplasia of various endocrine glands causing hormonal deficiency are common.<ref>PMID:15885686</ref> <ref>PMID:10888877</ref> <ref>PMID:12754710</ref> <ref>PMID:15108285</ref> <ref>PMID:17100991</ref> | ||
== Function == | |||
== | [[http://www.uniprot.org/uniprot/TRI37_HUMAN TRI37_HUMAN]] E3 ubiquitin-protein ligase.<ref>PMID:15885686</ref> | ||
<references | == 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/lr/3lrq_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> | |||
== References == | |||
<references/> | |||
__TOC__ | |||
</StructureSection> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Acton, T B | [[Category: Acton, T B]] | ||
[[Category: Chen, Y | [[Category: Chen, Y]] | ||
[[Category: Ciccosanti, C | [[Category: Ciccosanti, C]] | ||
[[Category: Everett, J K | [[Category: Everett, J K]] | ||
[[Category: Hunt, J F | [[Category: Hunt, J F]] | ||
[[Category: Kuzin, A | [[Category: Kuzin, A]] | ||
[[Category: Mao, M | [[Category: Mao, M]] | ||
[[Category: Montelione, G T | [[Category: Montelione, G T]] | ||
[[Category: | [[Category: Structural genomic]] | ||
[[Category: Nair, R | [[Category: Nair, R]] | ||
[[Category: Rost, B | [[Category: Rost, B]] | ||
[[Category: Seetharaman, J | [[Category: Seetharaman, J]] | ||
[[Category: Shastry, R | [[Category: Shastry, R]] | ||
[[Category: Tong, L | [[Category: Tong, L]] | ||
[[Category: Xiao, R | [[Category: Xiao, R]] | ||
[[Category: Ligase]] | [[Category: Ligase]] | ||
[[Category: Metal-binding]] | [[Category: Metal-binding]] | ||
[[Category: Nesg]] | [[Category: Nesg]] | ||
[[Category: Peroxisome]] | [[Category: Peroxisome]] | ||
[[Category: Phosphoprotein]] | [[Category: Phosphoprotein]] | ||
[[Category: Protein structure initiative | [[Category: PSI, Protein structure initiative]] | ||
[[Category: Ubl conjugation pathway]] | [[Category: Ubl conjugation pathway]] | ||
[[Category: Zinc-finger]] | [[Category: Zinc-finger]] | ||
Revision as of 14:43, 18 December 2014
Crystal structure of the U-box domain of human ubiquitin-protein ligase (E3), NORTHEAST STRUCTURAL GENOMICS CONSORTIUM TARGET HR4604D.
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