Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol FANCF contributors: mct/npt - updated : 01-06-2007
HGNC name Fanconi anemia, complementation group F
HGNC id 3587
Corresponding disease
FANCF Fanconi anemia, complementation group F
Location 11p14.3      Physical location : 22.644.078 - 22.647.387
Synonym name protein FACF
Synonym symbol(s) FAF, MGC126856
DNA
TYPE functioning gene
SPECIAL FEATURE
text intron less
STRUCTURE 3.31 kb     1 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site
text structure FANCF promoter cis element, which is activated by IRF8 in differentiating myeloid cells (Saberwal 2009)
MAPPING cloned Y linked N status provisional
Map pter - D11S1359 - FANCF FANCF - D11S329 - cen
Authors de Winter (00)
Physical map
LOC390101 11 similar to G protein-coupled receptor SNSR1 MRGX2 11p15.1 G protein-coupled receptor MRGX2 HIP14L 11p15.1 G protein-coupled receptor MRGX2 CSRP3 11p15.1 cysteine and glycine-rich protein 3 (cardiac LIM protein) FLJ23311 11p15.1 FLJ23311 protein LOC390102 11 similar to Proliferating cell nuclear antigen (PCNA) (Cyclin) NAV2 11p15.1 neuron navigator 2 LOC120237 11p15.1 similar to Homeobox protein DBX1 HTATIP2 11p15.1 HIV-1 Tat interactive protein 2, 30kDa PRMT3 11p15.1 protein arginine N-methyltransferase 3(hnRNP methyltransferase S. cerevisiae)-like 3 SLC6A5 11p15.2-p15.1 solute carrier family 6 (neurotransmitter transporter, glycine), member 5 NELL1 11p15.1-p15.2 NEL-like 1 (chicken) LOC203859 11p15.1 hypothetical protein LOC203859 SLC17A6 11p14.3 solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 FANCF 11p15 Fanconi anemia, complementation group F GAS2 11p15.2-p14.3 growth arrest-specific 2 LOC196188 11p14.3 similar to ribosomal protein S2 LOC341002 11p14.3 similar to dJ568F9.1 (zinc finger protein 133 (clone pHZ-13)) LOC338645 11p14.3 hypothetical protein LOC338645 LOC390103 11 similar to amyloid beta precursor protein-binding protein 1; amyloid protein-binding protein 1
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
1 - 3309 - 374 - -
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivesalivary gland   highly
Lymphoid/Immunespleen   highly
 thymus   highly
Reproductivefemale systemuteruscervix highly
 male systemtestis  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
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
    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
  • 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
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS