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FLASH GENE
Symbol FANCL contributors: mct - updated : 19-09-2012
HGNC name Fanconi anemia, complementation group L
HGNC id 20748
Corresponding disease
FANCL Fanconi anemia, complementation group L
Location 2p16.1      Physical location : 58.386.379 - 58.468.515
Synonym name
  • proliferation of germ cells
  • PHD finger protein 9
  • Fanconi anemia-associated polypeptide of 43 kDa
  • ubiquitin ligase protein PHF9
  • Synonym symbol(s) POG, FLJ10335, PHF9, FAAP43
    EC.number 6.3.2.-
    DNA
    TYPE functioning gene
    STRUCTURE 82.14 kb     14 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 1753 43.3 380 - 2006 16474167
    isoform 1
    14 - 1738 42.3 375 - 2006 16474167
    isoform 2
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
    Hearing/Equilibriumear   highly
    Lymphoid/Immunelymph node    
    Nervousbrain    
    Reproductivefemale systembreastmammary gland highly
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsensoryolfactory  
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an N-terminal E2-like fold (ELF domain),
  • three potential WD40 repeats required for interaction with other subunits of the FA complex
  • a PHD-type zinc finger motif required for FANCD2 mono-ubiquitination and sharing sequence similarity to the canonical RING finger of c-CBL, including a conserved tryptophan required for E2 binding by c-CBL
  • a central domain (URD) dispensable for interaction with UBE2T but is essential to bind substrates FANCD2 and FANCI, but appears to be essential for the function of FANCL
  • a novel double-RWD (DRWD) domain, and a C-terminal RING domain predicted to facilitate E2 binding, and both necessary and sufficient for FANCL binding of UBE2T
  • HOMOLOGY
    interspecies ortholog to murine Fancl
    ortholog to rattus Fancl_predicted
    Homologene
    FAMILY
  • zinc finger family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • having ubiquitin ligase activity and may be the long -sought enzyme responsible for monoubiquitination of FANCD2
  • required to prevent accumulation of replication-associated DNA double-strand breaks
  • via its WD40 region, binds the FA complex and, via its PHD, recruits an as-yet-unidentified E2 for mono-ubiquitination of FANCD2
  • increases the activity and expression of CTNNB, a key pluripotency factor in hematopoietic stem cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • FANCD2
  • UBE2W binds to FANCL, and the PHD domain is both necessary and sufficient for this interaction in mammalian cells
  • binding of FANCL with its partners, UBE2T, FANCD2, and FANCI
  • FANCD2 and FANCI have been identified as targets of FANCL monoubiquitylation
  • ubiquitinates CTNNB with atypical ubiquitin chain extension known to have nonproteolytic functions
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FANCL
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    by hypermethylation of promoter regions in sporadic acute leukaemia
    constitutional     --other  
    suppression of FANCL expression in normal human CD34(+) stem and progenitor cells results in fewer CTNNB active cells and inhibits expansion of multilineage progenitors
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS