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FANCF (Fanconi anemia, complementation group F)

Identity

Other namesFAF
HGNC (Hugo) FANCF
Location 11p15
Location_base_pair Starts at 22600655 and ends at 22603963 bp from pter ( according to hg18-Mar_2006)  [Mapping]

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 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.
    • Homology ROM (prokaryote)

    Implicated in

    Entity Fanconi anaemia (FA); FANCF is implicated in the FA complementation group F; it represents about 2-3% of FA cases
    Disease Fanconi anaemia is a chromosome instability syndrome/cancer prone disease (at risk of leukaemia and squamous cell carcinoma)
    Prognosis Fanconi anaemia's prognosis is poor; mean survival is 20 years: patients die of bone marrow failure (infections, haemorrhages), leukaemia, or solid cancer.
  • It has recently been shown that significant phenotypic differences were found between the various complementation groups. Patients from the rare groups FA-D, FA-E, and FA-F had somatic abnormalities more frequently.
    • Cytogenetics Spontaneously enhanced chromatid-type aberrations (breaks, gaps, interchanges; increased rate of breaks compared to control, when induced by specific clastogens known as DNA cross-linking agents (e.g. mitomycin C, diepoxybutane).
      

    External links

    Nomenclature
    HGNC (Hugo)FANCF   3587
    Entrez_Gene (NCBI)FANCF  2188  Fanconi anemia, complementation group F
    Cards
    AtlasFANCFID294
    GeneCards (Weizmann)FANCF
    Ensembl (Hinxton)ENSG00000183161 [Gene_View]  FANCF [Vega]
    AceView (NCBI)FANCF
    Genatlas (Paris)FANCF
    euGene (Indiana)2188
    SOURCE (Stanford)NM_022725
    Genomic and cartography
    GoldenPath (UCSC)FANCF  -  11p15   chr11:22600655-22603963 -  11p15   [Description]    (hg18-Mar_2006)
    EnsemblFANCF - 11p15 [CytoView]
    Mapping of homologs : NCBIFANCF [Mapview]
    OMIM603467   
    Gene and transcription
    Gene : Genbank (Entrez)AF181994 AF181995 AK001716 AK023153 AK223277
    Reference sequence (RefSeq transcript) :SRSNM_022725
    Reference transcript : EntrezNM_022725
    RefSeq genomic : SRSAC_000054 AC_000143 NC_000011 NG_007425 NT_009237 NW_001838022 NW_925006
    RefSeq genomic : EntrezAC_000054 AC_000143 NC_000011 NG_007425 NT_009237 NW_001838022 NW_925006
    Consensus coding sequences : CCDS NCBIFANCF
    Cluster EST : UnigeneHs.713574 [ SRS ] Hs.713574 [ NCBI ]
    Alternative Splicing : Fast-db (Paris)4260
    Protein : pattern, domain, 3D structure
    Protein : UniProt/SwissProtQ9NPI8 (SRS) Q9NPI8 (Expasy) Q9NPI8 (Uniprot)
    With graphics : InterProQ9NPI8
    Splice isoforms : VarSplice FASTAQ9NPI8(VarSplice FASTA)
    Related proteins : CluSTrQ9NPI8
    Domain families : Pfam SRS
    Domain families : Pfam Sanger
    Domain families : Pfam NCBI
    Blocks (Seattle)Q9NPI8
    Crystal structure of protein : PDB SRS2IQC   
    Crystal structure of protein : PDBSum2IQC   
    Crystal structure of protein : IMB2IQC   
    Crystal structure of protein : PDB RSDB2IQC   
    HPRD04589
    Protein Interaction databases
    DIP (DOE-UCLA)Q9NPI8
    IntAct (EBI)Q9NPI8
    Polymorphism : SNP, mutations, diseases
    Single Nucleotide Polymorphism (SNP) : dbSNP NCBIFANCF
    SNP : GeneSNP UtahFANCF
    SNP : HGBaseFANCF
    Genetic variants : HAPMAPFANCF
    Somatic Mutations in Cancer : COSMICFANCF 
    Mutations and Diseases : HGMDFANCF
    Hereditary diseases : OMIM603467   
    Hereditary diseases : GENETests603467   
    Diseases : Genetic AssociationFANCF
    General knowledge
    Homologs : HomoloGeneFANCF
    Homology/Alignments : Family Browser UCSCFANCF
    Phylogenetic Trees/Animal Genes : TreeFamFANCF
    Chemical/Protein Interactions : CTD2188
    Keywords Ontology : AmiGOmolecular_function  protein binding  cellular_component  nucleus  DNA repair  response to DNA damage stimulus  biological_process  
    Keywords Ontology : EGO-EBImolecular_function  protein binding  cellular_component  nucleus  DNA repair  response to DNA damage stimulus  biological_process  
    Pathways : BIOCARTARole of BRCA1, BRCA2 and ATR in Cancer Susceptibility [Genes]    BRCA1-dependent Ub-ligase activity [Genes]    Induction of apoptosis through DR3 and DR4/5 Death Receptors [Genes]   
    Pathways : KEGG
    Other databases
    Other databaseFanconi anemia mutation database
    Probes
    ProbeCancer Cytogenetics (Bari)
    Probes : ImagenesFANCF Related clones (RZPD - Berlin)
    Literature
    PubMed26 Pubmed reference(s) in Entrez
    PubGeneFANCF

    Bibliography

    Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex.
    Garcia-Higuera I, Kuang Y, Nˆ§f D, Wasik J, D'Andrea AD
    Molecular and cellular biology. 1999 ; 19 (7) : 4866-4873.
    PMID 10373536
     
    Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group.
    Faivre L, Guardiola P, Lewis C, Dokal I, Ebell W, Zatterale A, Altay C, Poole J, Stones D, Kwee ML, van Weel-Sipman M, Havenga C, Morgan N, de Winter J, Digweed M, Savoia A, Pronk J, de Ravel T, Jansen S, Joenje H, Gluckman E, Mathew CG
    Blood. 2000 ; 96 (13) : 4064-4070.
    PMID 11110674
     
    The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM.
    de Winter JP, Rooimans MA, van Der Weel L, van Berkel CG, Alon N, Bosnoyan-Collins L, de Groot J, Zhi Y, Waisfisz Q, Pronk JC, Arwert F, Mathew CG, Scheper RJ, Hoatlin ME, Buchwald M, Joenje H
    Nature genetics. 2000 ; 24 (1) : 15-16.
    PMID 10615118
     
    The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG.
    de Winter JP, van der Weel L, de Groot J, Stone S, Waisfisz Q, Arwert F, Scheper RJ, Kruyt FA, Hoatlin ME, Joenje H
    Human molecular genetics. 2000 ; 9 (18) : 2665-2674.
    PMID 11063725
     
    Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway.
    Garcia-Higuera I, Taniguchi T, Ganesan S, Meyn MS, Timmers C, Hejna J, Grompe M, D'Andrea AD
    Molecular cell. 2001 ; 7 (2) : 249-262.
    PMID 11239454
     
    Fanconi anemia and DNA repair.
    Grompe M, D'Andrea A
    Human molecular genetics. 2001 ; 10 (20) : 2253-2259.
    PMID 11673408
     
    Correction of cross-linker sensitivity of Fanconi anemia group F cells by CD33-mediated protein transfer.
    Holmes RK, Harutyunyan K, Shah M, Joenje H, Youssoufian H
    Blood. 2001 ; 98 (13) : 3817-3822.
    PMID 11739191
     
    Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway.
    Medhurst AL, Huber PA, Waisfisz Q, de Winter JP, Mathew CG
    Human molecular genetics. 2001 ; 10 (4) : 423-429.
    PMID 11157805
     
    Fanconi anemia proteins localize to chromatin and the nuclear matrix in a DNA damage- and cell cycle-regulated manner.
    Qiao F, Moss A, Kupfer GM
    The Journal of biological chemistry. 2001 ; 276 (26) : 23391-23396.
    PMID 11297559
     
    Function of the Fanconi anemia pathway in Fanconi anemia complementation group F and D1 cells.
    Siddique MA, Nakanishi K, Taniguchi T, Grompe M, D'Andrea AD
    Experimental hematology. 2001 ; 29 (12) : 1448-1455.
    PMID 11750104
     
    Current knowledge on the pathophysiology of Fanconi anemia: from genes to phenotypes.
    Yamashita T, Nakahata T
    International journal of hematology. 2001 ; 74 (1) : 33-41.
    PMID 11530803
     
    Breaks at telomeres and TRF2-independent end fusions in Fanconi anemia.
    Callˆ©n E, Samper E, Ramˆ‚rez MJ, Creus A, Marcos R, Ortega JJ, Olivˆ© T, Badell I, Blasco MA, Surrallˆ©s J
    Human molecular genetics. 2002 ; 11 (4) : 439-444.
    PMID 11854176
     
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

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    Contributor(s)

    Written06-2002Jean-Loup Huret

    Citation

    This paper should be referenced as such :
    Huret JL . FANCF (Fanconi anemia, complementation group F). Atlas Genet Cytogenet Oncol Haematol. June 2002 .
    URL : http://AtlasGeneticsOncology.org/Genes/FANCFID294.html

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