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2iqc

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{{STRUCTURE_2iqc| PDB=2iqc | SCENE= }}
 
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===Crystal structure of Human FancF Protein that Functions in the Assembly of a DNA Damage Signaling Complex===
 
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{{ABSTRACT_PUBMED_17082180}}
 
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==Disease==
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==Crystal structure of Human FancF Protein that Functions in the Assembly of a DNA Damage Signaling Complex==
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[[http://www.uniprot.org/uniprot/FANCF_HUMAN FANCF_HUMAN]] Defects in FANCF are the cause of Fanconi anemia complementation group F (FANCF) [MIM:[http://omim.org/entry/603467 603467]]. A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.<ref>PMID:10615118</ref>
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<StructureSection load='2iqc' size='340' side='right'caption='[[2iqc]], [[Resolution|resolution]] 2.40&Aring;' scene=''>
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== Structural highlights ==
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==Function==
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<table><tr><td colspan='2'>[[2iqc]] 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=2IQC OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2IQC FirstGlance]. <br>
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[[http://www.uniprot.org/uniprot/FANCF_HUMAN FANCF_HUMAN]] DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability (By similarity).
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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]] 2.4&#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=2iqc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2iqc OCA], [https://pdbe.org/2iqc PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2iqc RCSB], [https://www.ebi.ac.uk/pdbsum/2iqc PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2iqc ProSAT]</span></td></tr>
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[[2iqc]] 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=2IQC 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/FANCF_HUMAN FANCF_HUMAN] Defects in FANCF are the cause of Fanconi anemia complementation group F (FANCF) [MIM:[https://omim.org/entry/603467 603467]. A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.<ref>PMID:10615118</ref>
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<ref group="xtra">PMID:017082180</ref><references group="xtra"/><references/>
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== Function ==
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[https://www.uniprot.org/uniprot/FANCF_HUMAN FANCF_HUMAN] DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability (By similarity).
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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: Andrea, A D.]]
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[[Category: Large Structures]]
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[[Category: Ellenberger, T E.]]
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[[Category: D'Andrea A]]
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[[Category: Gurtan, A M.]]
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[[Category: Ellenberger TE]]
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[[Category: Kowal, P.]]
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[[Category: Gurtan AM]]
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[[Category: Lehmann, C.]]
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[[Category: Kowal P]]
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[[Category: Stuckert, P.]]
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[[Category: Lehmann C]]
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[[Category: Complex subunit]]
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[[Category: Stuckert P]]
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[[Category: Dna-damage]]
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[[Category: Fanconi]]
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[[Category: Heat-like repeat]]
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[[Category: Protein binding]]
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Current revision

Crystal structure of Human FancF Protein that Functions in the Assembly of a DNA Damage Signaling Complex

PDB ID 2iqc

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