2a1i

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{{STRUCTURE_2a1i| PDB=2a1i | SCENE= }}
 
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===Crystal Structure of the Central Domain of Human ERCC1===
 
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{{ABSTRACT_PUBMED_16076955}}
 
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==Disease==
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==Crystal Structure of the Central Domain of Human ERCC1==
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[[http://www.uniprot.org/uniprot/ERCC1_HUMAN ERCC1_HUMAN]] Defects in ERCC1 are the cause of cerebro-oculo-facio-skeletal syndrome type 4 (COFS4) [MIM:[http://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>
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<StructureSection load='2a1i' size='340' side='right'caption='[[2a1i]], [[Resolution|resolution]] 1.90&Aring;' scene=''>
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== Structural highlights ==
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==Function==
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<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>
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[[http://www.uniprot.org/uniprot/ERCC1_HUMAN ERCC1_HUMAN]] Structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair.
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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.9&#8491;</td></tr>
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<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>
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==About this Structure==
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<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>
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[[2a1i]] is a 1 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=2A1I OCA].
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</table>
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== Disease ==
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==Reference==
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[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>
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<ref group="xtra">PMID:016076955</ref><references group="xtra"/><references/>
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== Function ==
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[https://www.uniprot.org/uniprot/ERCC1_HUMAN ERCC1_HUMAN] Structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair.
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== Evolutionary Conservation ==
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[[Image:Consurf_key_small.gif|200px|right]]
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Check<jmol>
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<jmolCheckbox>
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<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/a1/2a1i_consurf.spt"</scriptWhenChecked>
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<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
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<text>to colour the structure by Evolutionary Conservation</text>
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</jmolCheckbox>
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</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].
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<div style="clear:both"></div>
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== References ==
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<references/>
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__TOC__
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Ellenberger, T.]]
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[[Category: Large Structures]]
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[[Category: Enzlin, J H.]]
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[[Category: Ellenberger T]]
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[[Category: Scharer, O D.]]
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[[Category: Enzlin JH]]
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[[Category: Tsodikov, O V.]]
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[[Category: Scharer OD]]
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[[Category: Central domain]]
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[[Category: Tsodikov OV]]
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[[Category: Dna binding protein]]
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[[Category: Dna repair]]
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[[Category: Endonuclease]]
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[[Category: Ercc1]]
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[[Category: Ner]]
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[[Category: Xpf]]
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Current revision

Crystal Structure of the Central Domain of Human ERCC1

PDB ID 2a1i

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