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
Corresponding disease
ICS44 immotile cilia syndrome 44
Location 17q25.1      Physical location : 74.132.416 - 74.137.380
Synonym name
  • transcription factor-like 13
  • forkhead-like 13
  • hepatocyte nuclear factor-3/forkhead homologue-4
  • Synonym symbol(s) HFH4, FKHL13, HFH-4, MGC35202
    DNA
    TYPE functioning gene
    STRUCTURE 4.97 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Map cen - D17S1603 - D17S114 - FOXJ1 - D17S2239 - D17S785 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 2666 - 421 - 2013 23822649
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue   
    Nervousplexus choroid   highly Homo sapiens
     spinal cord     Homo sapiens
    Reproductivefemale systemoviduct   
     male systemtestis   
    Skeletonaxial skeletonskullfacemandible 
     axial skeletonskullfacemaxilla 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousependymal cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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