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FLASH GENE
Symbol FANCA contributors: mct - updated : 04-12-2013
HGNC name Fanconi anemia, complementation group A
HGNC id 3582
Corresponding disease
FANCA Fanconi anemia, complementation group A
Location 16q24.3      Physical location : 89.803.958 - 89.883.065
Synonym name
  • Fanconi anemia, type 1
  • protein FACA
  • Synonym symbol(s) FA1, FAA, FACA, FANCH, FAH, MGC75158, FA
    DNA
    TYPE functioning gene
    STRUCTURE 79.11 kb     43 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence cytosine-phosphate-guanine/HTF
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC390750 16 similar to Hypothetical protein CBG22662 LOC390751 16 LOC390751 SPG7 16q24.3 spastic paraplegia 7, paraplegin (pure and complicated autosomal recessive) RPL13 16q24.3 ribosomal protein L13 CPNE7 16q24.3 copine VII DPEP1 16q24.3 dipeptidase 1 (renal) PCOLN3 16q24.3 procollagen (type III) N-endopeptidase FLJ31606 16q24.3 hypothetical protein FLJ31606 LOC388309 16 LOC388309 CDK10 16q24.3 cyclin-dependent kinase (CDC2-like) 10 MGC26885 16q24.3 hypothetical protein MGC26885 C16orf7 16q24 chromosome 16 open reading frame 7 ZFP276 16q24.3 zinc finger protein 276 homolog (mouse) FANCA 16q24.3 Fanconi anemia, complementation group A LOC197317 16q24.3 hypothetical LOC197317 Spir-2 16q24 Spir-2 protein KIAA1049 16q24.3 Spir-2 protein FLJ12547 16q24.3 hypothetical protein FLJ12547 MC1R 16q24.3 melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) TUBB4 16q24.3 tubulin, beta, 4 FLJ20186 16q24.3 hypothetical protein FLJ20186 MGC13198 16q24.3 hypothetical protein MGC13198 MGC16385 16q24.3 hypothetical protein MGC16385 AFG3L1 16q24 AFG3 ATPase family gene 3-like 1 (yeast) MGC3101 16q24.3 hypothetical protein MGC3101 GAS8 16q24.3 growth arrest-specific 8 C16orf3 16q24.3 chromosome 16 open reading frame 3 PRDM7 16q24.3 PR domain containing 7
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    43 - 5460 - 1455 - 2006 16946016
    11 - 1673 - 297 - 2006 16946016
    - - 5464 - 1424 - 2006 16946016
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
     liver    
     stomach   highly
    Lymphoid/Immunelymph node   highly
    Reproductivefemale systemuteruscervix highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    cell cycle     cell cycle, checkpoint, M exit
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • bipartite nuclear localization signal (NLS) motifs at the N terminus,
  • putative peroxidase domain
  • partial b leucine-zipper
  • multiple leucine-rich nuclear export sequences
  • a nucleic acid-binding domain of FANCA is located primarily at its C terminus, where most disease-causing mutations are found
  • mono polymer complex
    HOMOLOGY
    interspecies homolog to murine Fanca
    Homologene
    FAMILY
    CATEGORY regulatory , DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    text
  • actively exported out of the nucleus by XPO1, revealing a new mechanism to regulate the function of the FA protein complex
  • centrosomal protein
  • basic FUNCTION
  • involved in genomic stability and control of apoptosis
  • involved in blunt DNA ends joining
  • protection of the genomic integrity of cells
  • required to prevent accumulation of replication-associated DNA double-strand breaks
  • nucleocytoplasmic shuttling molecule required for gonadotropin-releasing hormone (GNRH1) transduction of the GnRH receptor (GNRHR)
  • member of the Group I Fanconi anemia proteins including also FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL
  • localizes to centrosomes and is required for the maintenance of centrosome integrity, possibly through its phosphorylation at T351 by NEK2
  • FANCA and FANCC modulate TLR and MAPK14-dependent expression of IL1B in macrophages
  • CELLULAR PROCESS nucleotide, repair
    nucleotide, genomic integrity
    PHYSIOLOGICAL PROCESS development
    text neurogenesis
    PATHWAY
    metabolism
    signaling
    chromosome instability pathway
    a component
  • component of a nuclear complex with FANCC, FANCF, FANCG (XRCC9, SWI/SNF complex
  • integral component in the early step of homology-directed repair of DNA double-strand breaks and thereby minimizing the genomic instability
  • member of the Group I Fanconi anemia proteins including also FANCM, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL
  • cytoplasmic FANCA-FANCC complex was essential for NPM1 stability
  • INTERACTION
    DNA binds to both single-stranded (ssDNA) and double-stranded (dsDNA) DNAs
    RNA
    small molecule
    protein
  • SMARCA4 in non mitosis phases for DNA repair
  • BRCA1
  • FANCE, FANCC, FANCG, FANCF( forming a multisubunit nuclear complex, FA complex, required for FANCD2 monoubiquitination)
  • interact with BRCA1, RAD51 and the MRE11/RAD50/NBS1 complex (may be involved in the repair of DNA double-strand breaks (DSBs)
  • interaction of CENPE with FANCA (CENPE and FANCA may play important roles in the functional regulation of the mitotic checkpoint signal pathway)
  • C1orf86 binds to FANCA subunit and is required for stability of the complex and monoubiquitination of FANCD2
  • interaction of FANCA and NEK2
  • cell & other
    REGULATION
    Phosphorylated by at T351 by NEK2
    ASSOCIATED DISORDERS
    corresponding disease(s) FANCA
    related resource Fanconi Anaemia Mutation Database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    in leukemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Fanca(-/-) mice (Sii-Felice, 2008)