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FLASH GENE
Symbol FHIT contributors: SGE/npt - updated : 16-03-2010
HGNC name fragile histidine triad gene
HGNC id 3701
Location 3p14.2      Physical location : 59.735.037 - 61.237.133
Synonym name
  • Ap3A hydrolase
  • bis(5'-adenosyl)-triphosphatase
  • tumor suppressor protein
  • dinucleosidetriphosphatase
  • diadenosine 5',5'''-P1,P3-triphosphate hydrolase
    • Synonym symbol(s) AP3Aase, FRA3B, FRA3P14
    EC.number 3.6.1.29
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    STRUCTURE 1502.09 kb     10 Exon(s)
    MAPPING cloned Y linked N status confirmed
    Map pter - [D3S4482 ,D3S1300 ,D3S4474 - MTERFL - [D3S2757 - D3S4481 - HPV16I1 - D3S4489 - D3S4260 ] - D3S4483 t(3;8) - D3S1480 - cen
    Authors Wang (98)
    Text t(3;8) in renal cell carcinoma region encompassing FHIT
    regionally located encompassing the immune fragile site FRA3B
    RNA
    TRANSCRIPTS type messenger
    text multiple transcripts in normal cell lines (Tokuchi)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 1103 - 147 - -
    - splicing 1122 - 147 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinethyroid   highly
    Hearing/Equilibriumearinnercochlea highly
    Reproductivefemale systemovary  highly
     female systembreastmammary gland highly
    Respiratoryrespiratory tractlarynx  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one HIT domain
    • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Fhit (91.2pc)
    homolog to rattus Fhit (88.4pc)
    Homologene
    FAMILY
  • histidine triad gene family
    • CATEGORY enzyme , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • dinucleoside 5', 5'' - P1, P3 - triphosphate Ap3A hydrolase
  • may be a tumor suppressor gene in relation to induction of apoptosis and cell cycle alteration and by interacting with microtubules and tubulin (see DLEC1)
  • playing a key role in the balance of proliferation / survival / apoptosis signals
  • has a major role in regulating beta-catenin-mediated gene transcription (Weiske 2007)
  • controls the invasive phenotype of lung tumor cells by regulating the expression of genes associated with epithelial-mesenchymal transition (Joannes 2010)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism purine/pyrimidine
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • Mg2+
  • Mn2+
    • protein
  • UBE2I for the cell cycle control
    • cell & other
    REGULATION
    Other phosphorylated in liver and kidney
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    in colorectal adenomas and in testicular germ cell tumor with metastasis
    tumoral fusion      
    with TRC8 in the translocation t(3;8) associated with clear cell renal carcinoma
    constitutional   LOH    
    in patients with idiopathic pulmonary fibrosis without lung carcinoma
    tumoral   translocation    
    t(3;20) (p14;p20) in breast cancer
    tumoral       loss of function
    in periocular sebaceous gland carcinomas
    Susceptibility
  • to Muir-Torr syndrome
  • to autism spectrum disorder
  • to breakage that could contribute to lung carcinogenesis (increased by active cigarette smoking)
    • Variant & Polymorphism other de novo copy number variant in autism spectrum disorder
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS