2a1i
From Proteopedia
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- | {{Seed}} | ||
- | [[Image:2a1i.png|left|200px]] | ||
- | + | ==Crystal Structure of the Central Domain of Human ERCC1== | |
- | + | <StructureSection load='2a1i' size='340' side='right'caption='[[2a1i]], [[Resolution|resolution]] 1.90Å' scene=''> | |
- | + | == Structural highlights == | |
- | + | <table><tr><td colspan='2'>[[2a1i]] is a 1 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=2A1I OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2A1I FirstGlance]. <br> | |
- | + | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.9Å</td></tr> | |
- | + | <tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=HG:MERCURY+(II)+ION'>HG</scene></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=2a1i FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2a1i OCA], [https://pdbe.org/2a1i PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2a1i RCSB], [https://www.ebi.ac.uk/pdbsum/2a1i PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2a1i ProSAT]</span></td></tr> | |
- | + | </table> | |
- | + | == Disease == | |
- | + | [https://www.uniprot.org/uniprot/ERCC1_HUMAN ERCC1_HUMAN] Defects in ERCC1 are the cause of cerebro-oculo-facio-skeletal syndrome type 4 (COFS4) [MIM:[https://omim.org/entry/610758 610758]. COFS is a degenerative autosomal recessive disorder of prenatal onset affecting the brain, eye and spinal cord. After birth, it leads to brain atrophy, hypoplasia of the corpus callosum, hypotonia, cataracts, microcornea, optic atrophy, progressive joint contractures and growth failure. Facial dysmorphism is a constant feature. Abnormalities of the skull, eyes, limbs, heart and kidney also occur.<ref>PMID:17273966</ref> | |
- | + | == Function == | |
- | < | + | [https://www.uniprot.org/uniprot/ERCC1_HUMAN ERCC1_HUMAN] Structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. |
- | + | == 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/a1/2a1i_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=2a1i ConSurf]. |
- | + | <div style="clear:both"></div> | |
- | + | == References == | |
- | == | + | <references/> |
- | + | __TOC__ | |
+ | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
- | [[Category: | + | [[Category: Large Structures]] |
- | [[Category: Ellenberger | + | [[Category: Ellenberger T]] |
- | [[Category: Enzlin | + | [[Category: Enzlin JH]] |
- | [[Category: Scharer | + | [[Category: Scharer OD]] |
- | [[Category: Tsodikov | + | [[Category: Tsodikov OV]] |
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Current revision
Crystal Structure of the Central Domain of Human ERCC1
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