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FANCE (Fanconi anemia, complementation group E)

Identity

Other namesFACE
FAE
HGNC (Hugo) FANCE
Location 6p21
Location_base_pair Starts at 35528116 and ends at 35542859 bp from pter ( according to hg18-Mar_2006)  [Mapping]
Local_order located between the 60S ribosomal protein RPL10Aand a ZNF127 like protein

DNA/RNA

Description the gene spans 15 kb and contains 10 exons;1611 bp open reading frame

Protein

Description 536 amino acids, 60 kDa; contains two potential nuclear localization signals
Function part of the FA complex with FANCA, FANCC, FANCF, 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 no known homology

    Implicated in

    Entity BEGIN_ENTITY Fanconi anaemia (FA); FANCE is implicated in the FA complementation group E; it represents about 2% of FA cases
    Disease Fanconi anaemia is a chromosome instability syndrome/cancer prone disease (at risk of leukaemia)
    Prognosis Fanconi anaemia's prognosis is poor; mean survival is 20 years (depending on mutation, treatment): patients die of bone marrow failure (infections, haemorrhages), leukaemia, or androgen therapy related liver tumours
  • 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 spontaneous,chromatid/chromosome breaks; increased rate of breaks compared to control, when induced by breaking agent
      

    External links

    Nomenclature
    HGNC (Hugo)FANCE   3586
    Entrez_Gene (NCBI)FANCE  2178  Fanconi anemia, complementation group E
    Cards
    AtlasFANCEID293
    GeneCards (Weizmann)FANCE
    Ensembl (Hinxton)ENSG00000112039 [Gene_View]  FANCE [Vega]
    AceView (NCBI)FANCE
    Genatlas (Paris)FANCE
    euGene (Indiana)2178
    SOURCE (Stanford)NM_021922
    Genomic and cartography
    GoldenPath (UCSC)FANCE  -  6p21   chr6:35528116-35542859 +  6p22-p21   [Description]    (hg18-Mar_2006)
    EnsemblFANCE - 6p22-p21 [CytoView]
    Mapping of homologs : NCBIFANCE [Mapview]
    OMIM600901   
    Gene and transcription
    Gene : Genbank (Entrez)AF265210 AK292522 AK312617 BC046359 CR605350
    Reference sequence (RefSeq transcript) :SRSNM_021922
    Reference transcript : EntrezNM_021922
    RefSeq genomic : SRSAC_000049 AC_000138 NC_000006 NT_007592 NW_001838980 NW_923073
    RefSeq genomic : EntrezAC_000049 AC_000138 NC_000006 NT_007592 NW_001838980 NW_923073
    Consensus coding sequences : CCDS NCBIFANCE
    Cluster EST : UnigeneHs.302003 [ SRS ] Hs.302003 [ NCBI ]
    Alternative Splicing : Fast-db (Paris)8622
    Protein : pattern, domain, 3D structure
    Protein : UniProt/SwissProtQ9HB96 (SRS) Q9HB96 (Expasy) Q9HB96 (Uniprot)
    With graphics : InterProQ9HB96
    Splice isoforms : VarSplice FASTAQ9HB96(VarSplice FASTA)
    Related proteins : CluSTrQ9HB96
    Domain families : Pfam SRS
    Domain families : Pfam Sanger
    Domain families : Pfam NCBI
    Blocks (Seattle)Q9HB96
    Crystal structure of protein : PDB SRS2ILR   
    Crystal structure of protein : PDBSum2ILR   
    Crystal structure of protein : IMB2ILR   
    Crystal structure of protein : PDB RSDB2ILR   
    HPRD02943
    Protein Interaction databases
    DIP (DOE-UCLA)Q9HB96
    IntAct (EBI)Q9HB96
    Polymorphism : SNP, mutations, diseases
    Single Nucleotide Polymorphism (SNP) : dbSNP NCBIFANCE
    SNP : GeneSNP UtahFANCE
    SNP : HGBaseFANCE
    Genetic variants : HAPMAPFANCE
    Somatic Mutations in Cancer : COSMICFANCE 
    Mutations and Diseases : HGMDFANCE
    Hereditary diseases : OMIM600901   
    Hereditary diseases : GENETests600901   
    Diseases : Genetic AssociationFANCE
    General knowledge
    Homologs : HomoloGeneFANCE
    Homology/Alignments : Family Browser UCSCFANCE
    Phylogenetic Trees/Animal Genes : TreeFamFANCE
    Chemical/Protein Interactions : CTD2178
    Keywords Ontology : AmiGOmolecular_function  protein binding  nucleus  DNA repair  response to DNA damage stimulus  
    Keywords Ontology : EGO-EBImolecular_function  protein binding  nucleus  DNA repair  response to DNA damage stimulus  
    Pathways : BIOCARTARole of BRCA1, BRCA2 and ATR in Cancer Susceptibility [Genes]    BRCA1-dependent Ub-ligase activity [Genes]   
    Pathways : KEGG
    Other databases
    Other databaseFanconi anemia mutation database
    Probes
    ProbeCancer Cytogenetics (Bari)
    Probes : ImagenesFANCE Related clones (RZPD - Berlin)
    Literature
    PubMed25 Pubmed reference(s) in Entrez
    PubGeneFANCE

    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
     
    Isolation of a cDNA representing the Fanconi anemia complementation group E gene.
    de Winter JP, Lˆ©veillˆ© F, van Berkel CG, Rooimans MA, van Der Weel L, Steltenpool J, Demuth I, Morgan NV, Alon N, Bosnoyan-Collins L, Lightfoot J, Leegwater PA, Waisfisz Q, Komatsu K, Arwert F, Pronk JC, Mathew CG, Digweed M, Buchwald M, Joenje H
    American journal of human genetics. 2000 ; 67 (5) : 1306-1308.
    PMID 11001585
     
    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
     
    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
     
    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 . FANCE (Fanconi anemia, complementation group E). Atlas Genet Cytogenet Oncol Haematol. June 2002 .
    URL : http://AtlasGeneticsOncology.org/Genes/FANCEID293.html

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    indexed on : Sat Jun 27 16:41:35 CEST 2009
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