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MGP001032

UniProt Annotations

Entry Information
Gene NameFanconi anemia, complementation group F
Protein EntryFANCF_HUMAN
UniProt IDQ9NPI8
SpeciesHuman
Comments
Comment typeDescription
DiseaseFanconi anemia complementation group F (FANCF) [MIM: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. {ECO:0000269|PubMed:10615118}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionDNA 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). {ECO:0000250}.
InteractionO15360:FANCA; NbExp=5; IntAct=EBI-81589, EBI-81570; O15287:FANCG; NbExp=4; IntAct=EBI-81589, EBI-81610;
Subcellular LocationNucleus {ECO:0000269|PubMed:11063725, ECO:0000269|PubMed:18550849}.
SubunitBelongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients. In complex with FANCA, FANCG and FANCL, but not with FANCC, nor FANCE, interacts with HES1; this interaction may be essential for the stability and nuclear localization of FA core complex proteins. {ECO:0000269|PubMed:11063725, ECO:0000269|PubMed:12724401, ECO:0000269|PubMed:15502827, ECO:0000269|PubMed:16116422, ECO:0000269|PubMed:17082180, ECO:0000269|PubMed:18550849}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/FANCFID294.html";
Web ResourceName=Fanconi Anemia Mutation Database; URL="http://www.rockefeller.edu/fanconi/mutate/jumpf.html";
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/fancf/";
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