Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol FOXJ1 contributors: mct - updated : 19-10-2018
HGNC name forkhead box J1
HGNC id 3816
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 ortholog to murine hepatocyte nuclear factor 4 HFH4
    ortholog to Drosophila homeo forkhead DNA binding domain
    Homologene
    FAMILY
  • HNF-3 FKH family of transcriptional activators
  • Forkhead box family of transcription factors
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • embryonic transcriptional regulator
  • modulating inflammatory reactions and preventing autoimmunity by antagonizing proinflammatory transcriptional activities
  • transcription factor that can suppress T cell activity, at least partially, through the repression of NFkappaB activity
  • playing a role in oro-facial morphogenesis (Shankar 2008)
  • implicated in motile cilia formation, and controling cilia formation by regulating aspects of cell polarity, in particular, by modulating the localization and/or activity of proteins such as Ezrin and Rho that are important for actin cytoskeleton organization (Yu 2008)
  • involved in ciliogenesis in multiciliated cells but also for expression of axonemal proteins related to ciliary motility
  • time- and cell-specific expression of FOXJ1 in the brain acts on an array of target genes to regulate the differentiation of ependymal cells and a small subset of astrocytes in the adult stem cell niche
  • regulates floor plate cilia architecture and modifies the response of cells to sonic hedgehog signalling
  • is essential for ciliogenesis upstream of RFX3 in the node
  • function of FOXJ1 in vertebrate organs of asymmetry is conserved, and NOTO regulates node morphogenesis and the posterior localization of cilia on node cells independently of FOXJ1
  • FOXJ1 functions as the master regulator of motile cilia biogenesis
  • plays likly an important role on neuronal production and neurogenesis in the adult brain after cerebral ischemia
  • FOXJ1 is an important regulator of cilia gene expression during ciliated cell differentiation
  • transcription factor that controls centriole docking and ciliary motility
  • key regulators of motile ciliogenesis are the transcription factors FOXJ1 and NOTO, which are conserved throughout vertebrate
  • essential for ependymal cell maturation, which might contribute to the development of hydrocephalus in FOXJ1-mutant individuals
  • FOXJ1 might also affect ciliogenesis in the female reproductive tract
  • is an essential component in signaling pathways for the generation of motile cilia
  • is an essential component in signaling pathways for the generation of motile cilia
  • mlticiliated cells (MCC) differentiation program is initiated by GMNC and MCIDAS, that activate key transcription factors, including p73 and FOXJ1, to control the multiciliogenesis program
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    text in left-right axis determination
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding, regulating expression of members of the dynein family of genes
    RNA
    small molecule
    protein
  • NFKB repressor
  • physically interacts with the PITX2 homeodomain to synergistically regulate FOXJJ1, providing a positive feedback mechanism for FOXJ1 expression (Shankar 2008)
  • NOTO transcriptionally activates FOXJ1 expression and thus also regulates ciliogenesis
  • ANK3 expression is controlled by FOXJ1, a transcriptional regulator of multicilia formation
  • RER1 depletion reduced ciliary length and function by increasing gamma-secretase complex assembly and activity and, consequently, enhancing NOTCH1 signaling as well as reducing FOXJ1 expression
  • RFX3 is a transcriptional co-activator to FOXJ1, helping to induce the expression of cilia genes in the process of ciliated cell differentiation of basal/progenitor cells
  • BBOF1 is induced during the early phases of Multiciliate cells (MCCs) differentiation by the master regulator FOXJ1
  • conditional inactivation of MYB in the developing airways blocks or delays centriole amplification and expression of FOXJ1
  • MCIDAS is a key regulator of CCNO/FOXJ1 for human multiciliated cell differentiation
  • GMNC directly transactivates the MCIDAS and FOXJ1 upstream regulatory sequences, and its activity is enhanced by E2F5 and inhibited by Geminin
  • TP73 directly activates the key regulators FOXJ1, RFX2, RFX3
  • ULK4 modulates expression of the master regulator of ciliogenesis, FOXJ1, and other ciliogenesis molecules
  • NOTO-dependent activation of FOXJ1 at the left/right organizer is crucial for proper determination of the left/right asymmetry, probably explaining situs anomalies in some FOXJ1 mutant individuals
  • TP73 acts upstream of FOXJ1 and downstream of MCIDAS
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ICS44
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in aggressive ependymoma and choroid plexus tumours
    Susceptibility
  • to allergic rhinitis
    • Variant & Polymorphism SNP associated with susceptibility to allergic rhinitis
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • randomization of left/right (L/R) asymetry in mutant mice deficient in HFH4
  • zebrafish Foxj1 homolog, foxj1a, is a target of Hedgehog signaling in the floor plate (Yu 2008)
  • Foxj1-deficient mice develop hydrocephalus