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{{STRUCTURE_2iqc|  PDB=2iqc  |  SCENE=  }}
===Crystal structure of Human FancF Protein that Functions in the Assembly of a DNA Damage Signaling Complex===
{{ABSTRACT_PUBMED_17082180}}


==Disease==
==Crystal structure of Human FancF Protein that Functions in the Assembly of a DNA Damage Signaling Complex==
[[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>  
<StructureSection load='2iqc' size='340' side='right'caption='[[2iqc]], [[Resolution|resolution]] 2.40&Aring;' scene=''>
 
== Structural highlights ==
==Function==
<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>
[[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).  
</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>
 
<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>
==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=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>
[[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].
</table>
 
== Disease ==
==Reference==
[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>  
<ref group="xtra">PMID:017082180</ref><references group="xtra"/><references/>
== Function ==
[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).
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Andrea, A D.]]
[[Category: Large Structures]]
[[Category: Ellenberger, T E.]]
[[Category: D'Andrea A]]
[[Category: Gurtan, A M.]]
[[Category: Ellenberger TE]]
[[Category: Kowal, P.]]
[[Category: Gurtan AM]]
[[Category: Lehmann, C.]]
[[Category: Kowal P]]
[[Category: Stuckert, P.]]
[[Category: Lehmann C]]
[[Category: Complex subunit]]
[[Category: Stuckert P]]
[[Category: Dna-damage]]
[[Category: Fanconi]]
[[Category: Heat-like repeat]]
[[Category: Protein binding]]

Latest revision as of 09:04, 21 February 2024

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

2iqc, resolution 2.40Å

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