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FLASH GENE
Symbol TBR1 contributors: mct/npt/pgu - updated : 11-09-2019
HGNC name T-box, brain, 1
HGNC id 11590
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
  • T-box genes family
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in the regulation of developmental processes
  • neuron-specific T-box transcription factor, playing a critical role in brain development
  • regulates the expression of the extracellular matrix protein Reelin (Reln), which is crucial for neuronal migration and lamination
  • modulates the balance of cortical areas and layers by regulating gene expression in postmitotic neurons
  • coordinately regulates regional and laminar identity of postmitotic cortical neurons
  • promotes the identity of corticothalamic neurons and represses subcerebral fates through reducing expression of FEZF2 and BCL11B
  • is a direct transcriptional repressor of FEZF2 and a negative regulator of corticospinal tract formation that restricts the laminar origin of corticospinal axons specifically to L5
  • regulates brain development, and is important in the regulation of amygdalar axonal connections and cognition
  • master regulator of cortical development
  • is in a central position both for ASD risk and for regulating transcriptional circuits that control multiple steps in layer 6 development essential for the assembly of neural circuits
  • regulates neural circuits and activity in the olfactory system to control olfaction
  • plays critical roles in regulating the formation and dendritic morphogenesis of specific retinal ganglion cell (RGC) types
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • TBR1/CASK protein complex regulates expression of downstream target genes and thus modulates neuronal activity and function
    • INTERACTION
    DNA
    RNA
    small molecule
    protein interacting with AUTS2 (direct target of TBR1 binding and activation
  • directly binds the FEZF2 locus and represses its activity in L6 corticothalamic projection neurons to restrict the origin of the CS tract to L5
  • POU3F2, POU3F3 influence multiple stages of neurogenesis by suppressing Notch effector HES5, and promoting the expression of proneural transcription factors EOMES and TBR1
  • TBR1 homodimerizes, it interacts with FOXP2, a transcription factor implicated in speech/language disorders, and this interaction is disrupted by pathogenic mutations affecting either protein
  • regulates autism risk genes in the developing neocortex
  • interaction with CASK and disruption of the CASK and TBR1 interaction impairs extinction, suggesting the involvement of CASK in cognitive flexibility
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Tbr1 null mice exhibited profound defects of frontal cortex and layer 6 differentiation