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FLASH GENE
Symbol FANCC contributors: mct/npt/pgu - updated : 19-06-2010
HGNC name Fanconi anemia, complementation group C
HGNC id 3584
Corresponding disease
DEL9Q22 chromosome 9q22.3 microdeletion syndrome
FANCC Fanconi anemia, complementation group C
Location 9q22.32      Physical location : 97.861.337 - 98.079.991
Synonym name protein FACC
Synonym symbol(s) FACC, FAC, FA3, FLJ14675, RP11-80I15.2, bA80I15.1
DNA
TYPE functioning gene
STRUCTURE 218.65 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
text structure two alternative 5' exons-1 and -1a
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 - 4612 63 558 - 1994 7517562
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon  
 liver   highly
Endocrinethyroid   highly
Lymphoid/Immunethymus   highly
Reproductivemale systemtestis  highly
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • unknown structural motifs
  • mono polymer complex
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • controlling the correct functioning of the replicative, repair and recombination machineries
  • involved in the fidelity of end-joining of specific double strand break in the cytoplasmic defense against a specific class of genotoxic agents and in the repair of oxidatively damaged DNA
  • protection of hematopoietic cells from cytotxicity induced by IFNG, TNF and RNA
  • required to prevent accumulation of replication-associated DNA double-strand breaks
  • suppresses cross-linker-induced genotoxicity, modulates growth-inhibitory cytokine responses, and modulates endotoxin responses
  • does not directly regulate long telomeres, but does regulate short telomere-initiated telomere recombination
  • may be functioning to control cell viability and immortalization of primary cells by influencing telomere attrition and telomere recombination
  • FANCA and FANCC modulate TLR and MAPK14-dependent expression of IL1B in macrophages
  • CELLULAR PROCESS cell life, antiapoptosis
    nucleotide, replication
    nucleotide, genomic integrity
    PHYSIOLOGICAL PROCESS
    text essential for the correction of cross-linking defects
    PATHWAY
    metabolism
    signaling
    chromosome instability pathway
    a component
  • of a nuclear complex with FANCA, FANCF, FANCG (XRCC9)
  • member of the Group I Fanconi anemia proteins including also FANCA, FANCB, FANCM, FANCE, FANCF, FANCG, FANCL
  • cytoplasmic FANCA-FANCC complex was essential for NPM1stability
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with Hsp70 to prevent apoptosis of hematopoitic cells and with STAT1(activation of STAT1 in response to cytokine and growth factors)
  • FANCA, FANCE, FANCG
  • FANCE-mediated association of FANCC with FANCD2
  • regulates the monoubiquitination of FANCD2
  • regulates XRCC3, telomere-binding proteins or histone methyltransferases in telomere recombination
  • HELQ contributes to genome stability in unchallenged conditions through a mechanism distinct from the function of FANCC
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FANCC , DEL9Q22
    related resource Fanconi Anaemia Mutation Database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    in leukemias
    tumoral     --low  
    by hypermethylation of promoter regions in sporadic acute leukaemia
    constitutional       loss of function
    associated with failure to inhibit late firing replication origins after DNA cross-linking
    constitutional       loss of function
    facilitates short telomere-initiated telomere recombination
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • alterations of FANCC and PTCH1 could be used as molecular marker for early diagnosis and prognosis of head and neck squamous cell carcinoma (HNSCC)
  • Therapy target
  • introducing expression cassettes for TT-adapted U1 snRNAs into primary FANCC patient fibroblasts allowed the correction of the DNA-damage-induced G2 cell-cycle arrest in these cells, thus representing an alternative transcript-targeting approach for genetic therapy of inherited splice-site mutations
  • ANIMAL & CELL MODELS