FANCF (Fanconi anemia, complementation group F)

JL Huret
2011 Atlas of Genetics and Cytogenetics in Oncology and Haematology  
Identity Other names: FAF HGNC (Hugo): FANCF Location: 11p15 Probe(s) -Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. DNA/RNA Description 1 exon; 1124 bp open reading frame. Protein Description 374 amino acids ; 42 kDa. Expression Weak. Localisation Predominantly nuclear. Function Part of the FA complex with FANCA, FANCC, FANCE, and FANCG; this complex is only found in the nucleus. FANCA and FANCG form a complex in the cytoplasm, through a N-term FANCA (involving the nuclear
more » ... ing the nuclear localization signal) -FANCG interaction; FANCC join the complex; phosphorylation of FANCA would induce its translocation into the nucleus.This FA complex translocates into the nucleus, where FANCE and FANCF are present; FANCE and FANCF join the complex. The FA complex subsequently interacts with FANCD2 by monoubiquitination of FANCD2 during S phase or following DNA damage. Activated (ubiquinated) FANCD2, downstream in the FA pathway, will then interact with other proteins involved in DNA repair, possibly BRCA1; after DNA repair, FANCD2 return to the non-ubiquinated form.
doi:10.4267/2042/37895 fatcat:4mphydqklrccfehs5vee5x4uxi