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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
Location 2q24.2      Physical location : 162.272.619 - 162.281.573
Synonym name T-brain-1
Synonym symbol(s) TES-56, MGC141978, TBR-1, IDDAS
DNA
TYPE functioning gene
STRUCTURE 9.57 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 3806 73.9 682 - 2005 15772651
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain    
Visualeyeretina    Mus musculus
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier liningretinal pigment epithelium (RPE)   Mus musculus
cells
SystemCellPubmedSpeciesStageRna symbol
Visualganglion cell Mus musculus
cell lineage
cell lines
fluid/secretion
at STAGE
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