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FLASH GENE
Symbol FANCF contributors: mct/npt - updated : 08-06-2021
HGNC name Fanconi anemia, complementation group F
HGNC id 3587
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal region of FANCF engages in interactions with the FANCC:FANCE subcomplex
  • a putative RNA-binding domain
  • putatively DNA-binding
  • alpha helical structure
  • C-terminal domain (CTD) interacts with FANCG
  • mono polymer complex
    HOMOLOGY
    intraspecies homolog to prokaryotic RNA-binding protein ROM
    Homologene
    FAMILY
    CATEGORY regulatory , DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • putative RNA binding protein involved in the protection of the genomic integrity of cells
  • acting as a flexible adaptor protein that plays a key role in the proper assembly of the FA core complex
  • could closely appose the FANCC:FANCE and FANCA:FANCG subcomplexes and thereby promote secondary interactions that stabilize the FA core complex in a functionally competent configuration
  • required to prevent accumulation of replication-associated DNA double-strand breaks
  • FANCA, FANCF, FANCL, FANCD2, BRCA1, and BRCA2, are required for mitophagy
  • CELLULAR PROCESS nucleotide, genomic integrity
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    chromosome instability pathway
    a component
  • component of a nuclear complex with FANCA, FANCC, FANCG(XRCC1)
  • member of the Group I Fanconi anemia proteins including also FANCA, FANCB, FANCC, FANCE, FANCM, FANCG, FANCL
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • FANCA
  • interacting directly with FANCG and allows the assembly of other FA proteins into a stable complex by its C terminus
  • FANCF is an IRF8 target gene (Saberwal 2009)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FANCF
    related resource Fanconi Anaemia Mutation Database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in advanced stage invasive cervical cancer and in acute myeloid leukemia by promoter hypermethylation
    tumoral       loss of function
    in leukemia
    tumoral       loss of function
    by methylation of the promoter in a subset of ovarian, oral, lung, and cervical cancers
    Susceptibility
  • to acquired pure red cell aplasia
  • to epithelial ovarian cancer (EOC)
  • Variant & Polymorphism other
  • FANCF mutations may be associated with acquired PRCA
  • CpG island methylation of FANCF gene promoter region is strongly associated with the susceptibility and clinicopathologic features of EOC
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS