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{{STRUCTURE_3lrq|  PDB=3lrq  |  SCENE=  }}
===Crystal structure of the U-box domain of human ubiquitin-protein ligase (E3), NORTHEAST STRUCTURAL GENOMICS CONSORTIUM TARGET HR4604D.===


==Disease==
==Crystal structure of the U-box domain of human ubiquitin-protein ligase (E3), NORTHEAST STRUCTURAL GENOMICS CONSORTIUM TARGET HR4604D.==
[[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>  
<StructureSection load='3lrq' size='340' side='right'caption='[[3lrq]], [[Resolution|resolution]] 2.29&Aring;' scene=''>
 
== Structural highlights ==
==Function==
<table><tr><td colspan='2'>[[3lrq]] is a 4 chain structure with sequence from [https://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 [https://proteopedia.org/fgij/fg.htm?mol=3LRQ FirstGlance]. <br>
[[http://www.uniprot.org/uniprot/TRI37_HUMAN TRI37_HUMAN]] E3 ubiquitin-protein ligase.<ref>PMID:15885686</ref>  
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.292&#8491;</td></tr>
 
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=MSE:SELENOMETHIONINE'>MSE</scene>, <scene name='pdbligand=ZN:ZINC+ION'>ZN</scene></td></tr>
==About this Structure==
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=3lrq FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3lrq OCA], [https://pdbe.org/3lrq PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3lrq RCSB], [https://www.ebi.ac.uk/pdbsum/3lrq PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3lrq ProSAT]</span></td></tr>
[[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].  
</table>
 
== Disease ==
==Reference==
[https://www.uniprot.org/uniprot/TRI37_HUMAN TRI37_HUMAN] Defects in TRIM37 are the cause of mulibrey nanism (MUL) [MIM:[https://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>  
<references group="xtra"/><references/>
== Function ==
[https://www.uniprot.org/uniprot/TRI37_HUMAN TRI37_HUMAN] E3 ubiquitin-protein ligase.<ref>PMID:15885686</ref>  
== 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/initialview03.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=3lrq ConSurf].
<div style="clear:both"></div>
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Acton, T B.]]
[[Category: Large Structures]]
[[Category: Chen, Y.]]
[[Category: Acton TB]]
[[Category: Ciccosanti, C.]]
[[Category: Chen Y]]
[[Category: Everett, J K.]]
[[Category: Ciccosanti C]]
[[Category: Hunt, J F.]]
[[Category: Everett JK]]
[[Category: Kuzin, A.]]
[[Category: Hunt JF]]
[[Category: Mao, M.]]
[[Category: Kuzin A]]
[[Category: Montelione, G T.]]
[[Category: Mao M]]
[[Category: NESG, Northeast Structural Genomics Consortium.]]
[[Category: Montelione GT]]
[[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: Metal-binding]]
[[Category: Nesg]]
[[Category: Northeast structural genomics consortium]]
[[Category: Peroxisome]]
[[Category: Phosphoprotein]]
[[Category: Protein structure initiative]]
[[Category: Psi-2]]
[[Category: Structural genomic]]
[[Category: Ubl conjugation pathway]]
[[Category: Zinc-finger]]
Retrieved from "https://proteopedia.org/3lrq"