2iqc: Difference between revisions
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==Crystal structure of Human FancF Protein that Functions in the Assembly of a DNA Damage Signaling Complex== | |||
<StructureSection load='2iqc' size='340' side='right' caption='[[2iqc]], [[Resolution|resolution]] 2.40Å' scene=''> | |||
== Structural highlights == | |||
<table><tr><td colspan='2'>[[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]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2IQC FirstGlance]. <br> | |||
==Disease== | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=HG:MERCURY+(II)+ION'>HG</scene></td></tr> | ||
[[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> | <tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">FANCF ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr> | ||
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2iqc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2iqc OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2iqc RCSB], [http://www.ebi.ac.uk/pdbsum/2iqc PDBsum]</span></td></tr> | |||
==Function== | </table> | ||
== Disease == | |||
[[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> | |||
== Function == | |||
[[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). | [[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). | ||
<div style="background-color:#fffaf0;"> | |||
== Publication Abstract from PubMed == | |||
Fanconi anemia (FA) is a rare autosomal recessive and X-linked chromosomal instability disorder. At least eight FA proteins (FANCA, B, C, E, F, G, L, and M) form a nuclear core complex required for monoubiquitination of a downstream protein, FANCD2. The human FANCF protein reportedly functions as a molecular adaptor within the FA nuclear complex, bridging between the subcomplexes A:G and C:E. Our x-ray crystallographic studies of the C-terminal domain of FANCF reveal a helical repeat structure similar to the Cand1 regulator of the Cul1-Rbx1-Skp1-Fbox(Skp2) ubiquitin ligase complex. Two C-terminal loops of FANCF are essential for monoubiquitination of FANCD2 and normal cellular resistance to the DNA cross-linking agent mitomycin C. FANCF mutants bearing amino acid substitutions in this C-terminal surface fail to interact with other components of the FA complex, indicating that this surface is critical for the proper assembly of the FA core complex. | |||
Structural determinants of human FANCF protein that function in the assembly of a DNA damage signaling complex.,Kowal P, Gurtan AM, Stuckert P, D'Andrea AD, Ellenberger T J Biol Chem. 2007 Jan 19;282(3):2047-55. Epub 2006 Nov 1. PMID:17082180<ref>PMID:17082180</ref> | |||
== | From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br> | ||
</div> | |||
== References == | |||
<references/> | |||
__TOC__ | |||
</StructureSection> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Andrea, A D | [[Category: Andrea, A D]] | ||
[[Category: Ellenberger, T E | [[Category: Ellenberger, T E]] | ||
[[Category: Gurtan, A M | [[Category: Gurtan, A M]] | ||
[[Category: Kowal, P | [[Category: Kowal, P]] | ||
[[Category: Lehmann, C | [[Category: Lehmann, C]] | ||
[[Category: Stuckert, P | [[Category: Stuckert, P]] | ||
[[Category: Complex subunit]] | [[Category: Complex subunit]] | ||
[[Category: Dna-damage]] | [[Category: Dna-damage]] | ||
