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FANCF (Fanconi anemia, complementation group F)

Identity

Other namesFAF
HGNC (Hugo) FANCF
LocusID (NCBI) 2188
Location 11p14.3
Location_base_pair Starts at 22644079 and ends at 22647387 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  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 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
    Cards
    AtlasFANCFID294
    Entrez_Gene (NCBI)FANCF  2188  Fanconi anemia, complementation group F
    GeneCards (Weizmann)FANCF
    Ensembl (Hinxton)ENSG00000183161 [Gene_View]  chr11:22644079-22647387 [Contig_View]  FANCF [Vega]
    ICGC DataPortalENSG00000183161
    cBioPortalFANCF
    AceView (NCBI)FANCF
    Genatlas (Paris)FANCF
    WikiGenes2188
    SOURCE (Princeton)NM_022725
    Genomic and cartography
    GoldenPath (UCSC)FANCF  -  11p14.3   chr11:22644079-22647387 -  11p15   [Description]    (hg19-Feb_2009)
    EnsemblFANCF - 11p15 [CytoView]
    Mapping of homologs : NCBIFANCF [Mapview]
    OMIM227650   603467   613897   
    Gene and transcription
    Genbank (Entrez)AF181994 AF181995 AK001716 AK023153 AK223277
    RefSeq transcript (Entrez)NM_022725
    RefSeq genomic (Entrez)AC_000143 NC_000011 NC_018922 NG_007425 NT_009237 NW_001838022 NW_004929378
    Consensus coding sequences : CCDS (NCBI)FANCF
    Cluster EST : UnigeneHs.632151 [ NCBI ]
    CGAP (NCI)Hs.632151
    Alternative Splicing : Fast-db (Paris)GSHG0005649
    Alternative Splicing GalleryENSG00000183161
    Gene ExpressionFANCF [ NCBI-GEO ]     FANCF [ SEEK ]   FANCF [ MEM ]
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtQ9NPI8 (Uniprot)
    NextProtQ9NPI8  [Medical]
    With graphics : InterProQ9NPI8
    Splice isoforms : SwissVarQ9NPI8 (Swissvar)
    Related proteins : CluSTrQ9NPI8
    Domain families : Pfam (Sanger)
    Domain families : Pfam (NCBI)
    DMDM Disease mutations2188
    Blocks (Seattle)Q9NPI8
    PDB (SRS)2IQC   
    PDB (PDBSum)2IQC   
    PDB (IMB)2IQC   
    PDB (RSDB)2IQC   
    Human Protein AtlasENSG00000183161 [gene] [tissue] [antibody] [cell] [cancer]
    Peptide AtlasQ9NPI8
    HPRD04589
    IPIIPI00009290   IPI00816297   
    Protein Interaction databases
    DIP (DOE-UCLA)Q9NPI8
    IntAct (EBI)Q9NPI8
    FunCoupENSG00000183161
    BioGRIDFANCF
    InParanoidQ9NPI8
    Interologous Interaction database Q9NPI8
    IntegromeDBFANCF
    STRING (EMBL)FANCF
    Ontologies - Pathways
    Ontology : AmiGOmolecular_function  protein binding  nucleoplasm  DNA repair  biological_process  Fanconi anaemia nuclear complex  
    Ontology : EGO-EBImolecular_function  protein binding  nucleoplasm  DNA repair  biological_process  Fanconi anaemia nuclear complex  
    Pathways : BIOCARTABRCA1-dependent Ub-ligase activity [Genes]    Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility [Genes]   
    Pathways : KEGGFanconi anemia pathway   
    Protein Interaction DatabaseFANCF
    Wikipedia pathwaysFANCF
    Gene fusion - rearrangments
    Polymorphisms : SNP, mutations, diseases
    SNP Single Nucleotide Polymorphism (NCBI)FANCF
    snp3D : Map Gene to Disease2188
    SNP (GeneSNP Utah)FANCF
    SNP : HGBaseFANCF
    Genetic variants : HAPMAPFANCF
    Exome VariantFANCF
    1000_GenomesFANCF 
    ICGC programENSG00000183161 
    Cancer Gene: CensusFANCF 
    Somatic Mutations in Cancer : COSMICFANCF 
    CONAN: Copy Number AnalysisFANCF 
    Mutations and Diseases : HGMDFANCF
    Genomic VariantsFANCF  FANCF [DGVbeta]
    dbVarFANCF
    ClinVarFANCF
    Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
    Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
    Diseases
    OMIM227650    603467    613897   
    MedgenFANCF
    GENETestsFANCF
    Disease Genetic AssociationFANCF
    Huge Navigator FANCF [HugePedia]  FANCF [HugeCancerGEM]
    General knowledge
    Homologs : HomoloGeneFANCF
    Homology/Alignments : Family Browser (UCSC)FANCF
    Phylogenetic Trees/Animal Genes : TreeFamFANCF
    Chemical/Protein Interactions : CTD2188
    Chemical/Pharm GKB GenePA28001
    Clinical trialFANCF
    Cancer Resource (Charite)ENSG00000183161
    Other databases
    Other databaseFanconi anemia mutation database
    Probes
    ProbeCancer Cytogenetics (Bari)
    Litterature
    PubMed52 Pubmed reference(s) in Entrez
    CoreMineFANCF
    iHOPFANCF

    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
     
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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. 2002;6(4):281-282.
    Free online version   Free pdf version   [Bibliographic record ]
    URL : http://AtlasGeneticsOncology.org/Genes/FANCFID294.html

    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Fri Jul 11 16:42:53 CEST 2014

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