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FLASH GENE
Symbol FOXG1 contributors: mct/npt/pgu - updated : 28-03-2015
HGNC name forkhead box G1
HGNC id 3811
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a forkhead(FH, winged helix) domain
  • tThe first 36 AAs of FOXG1 are necessary for its survival-promoting effect, while the C-terminal half of the protein is dispensable
  • two loops-wings on the C-terminal side of helix-turn-helix homeo domain, C-terminal region (aa 175-489) identified as AR-interacting protein
    • HOMOLOGY
    interspecies homolog to Drosophila homeo forkhead 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, telencephalic trancription factor suppressing the generation of the earliest born neurons, the Cajal-Retzius neuron
  • playing a critical role in brain development
  • brain-specific transcriptional repressor that is essential for early development of the telencephalon
  • in addition to repression of transcription by direct binding to DNA, may interact with AR, thereby targeting its repressor function specifically to sex hormone signaling
  • with EMX2, inhibit gliogenesis and promote neuronogenesis
  • regulates neurogenesis in the embryonic telencephalon as well as a number of other neurodevelopmental processes
  • promotes the survival of postmitotic neurons
  • a new and important function for FOXG1 in differentiated neurons
  • may be necessary for the maintenance of the dentate gyrus (DG) progenitor pool and the lack of FOXG1 promotes both gliogenesis and neurogenesis
  • transcriptional repressor essential for early development of the telencephalon
  • is a transcription factor essential for telencephalic specification, the mutation of which leads to microcephaly and mental retardation
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    FOXG1 and FOXD1 are potentially located at the top of the gene cascade for regional specification along the nasotemporal (anteroposterior) axis in the retina
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • interacting with JARID1B and PAX9
  • cooperates with BMI1 to maintain neural stem cell self renewal
  • AR-interacting protein
  • TLE1 cooperates with FOXG1 to promote neuronal survival in a CK2- and PI3K-Akt-dependent manner
  • promotes ventral telencephalic fates through transient regulation of FOXG1A expression and repression of the WNT/CTNNB pathway
  • FOXG1 binds to mammalian-specific noncoding sequences to repress over 12 transcription factors expressed in early progenitors, including EBF2/3, DMRT3, DMRTA1, and EYA2
  • can function as a pro-apoptotic factor in part through suppression of NCOA3 coactivator transcription complex formation, thereby reducing the expression of the NCOA3 oncogene
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RTTL1 , DEL14Q12 , DEL14QP , DUP14QP
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in mental retardation with microcephaly
    constitutional     --other  
    haploinsufficiencyof FOXG1 is an emerging cause of dyskinetic encephalopathy of infancy 1)
    Susceptibility to infantile spasms (ISS)
    Variant & Polymorphism other CNV associated with infantile spasms (ISS)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS