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FLASH GENE
Symbol FOXF1 contributors: mct/npt - updated : 07-04-2014
HGNC name forkhead box F1
HGNC id 3809
Corresponding disease
ACDMPV alveolar capillary dysplasia with misalignment of pulmonary veins
Location 16q24.1      Physical location : 86.544.132 - 86.548.069
Synonym name
  • forkhead, drosophila, homolog-like 5
  • transcription factor-like 5
  • Synonym symbol(s) FREAC1, FKHL5, MGC105125
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    text arranged in tandem with FOXC2, FOXL1
    STRUCTURE 3.94 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure a CGG repeat in 5'utr
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 2579 - 379 - Stankiewicz (2009)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
     stomach    
    Reproductivefemale systemuteruscervix  
     male systemprostate   
    Respiratorylung    
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text lung
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a forkhead (FH, winged helix) domain
  • two loops-wings on the C-terminal side of helix-turn-helix homeo domain
  • HOMOLOGY
    interspecies homolog to Drosophila homeo fork head DNA binding domain
    Homologene
    FAMILY
  • HNF-3 forkhead family of transcriptional activator
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • embryonic transcriptional regulator of pulmonary genes
  • playing a crucial role in lung and intrinsic pulmonary vascular development (Stankiewicz 2009)
  • with FOXL1, are mediators of the Hh (endoderm) to mesoderm signaling pathway (Madison 2009)
  • mesenchymal target of hedgehog signaling, known to regulate mesenchymal-epithelial interactions during lung development
  • potential tumor suppressor gene with an essential role in preventing DNA rereplication to maintain genomic stability, which is frequently inactivated in breast cancer through the epigenetic mechanism
  • is required for normal development of gastrointestinal smooth muscle
  • FOXF1 and SRF synergistically activate the telokin promoter and FOXF1 promotes SRF-myocardin binding
  • in smooth muscle cells is required for the development and normal physiological function of the gastrointestinal tract
  • is not only important for visceral smooth muscle development but also for maintaining expression of contractile proteins in adult gastrointestinal smooth muscle tissues
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • HOXA13 directly regulates TEK and FOXF1 in the placental labyrinth endothelia
  • directly binds to and activates the telokin (MYLK) promoter
  • also directly binds to serum response factor (SRF) and myocardin-related transcription factors (MRTFs)
  • FOXF1 and FOXQ1 directly bind to distinct regions of MYOCD
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ACDMPV
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral        
    predominantly silenced in breast and colorectal cancer cell lines with inactive T53¨
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Foxf1 heterozygous mice display abnormalities in lung and gallbladder development
  • Foxf1 deletion from smooth muscle cells causes esophageal defects in newborn mice