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FLASH GENE
Symbol OTX1 contributors: mct - updated : 14-05-2012
HGNC name orthodenticle homolog 1 (Drosophila)
HGNC id 8521
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an helix-turn-helix and paired DNA binding domains
  • a bicoid-like homeodomain
    • HOMOLOGY
    interspecies homolog to Drosophila orthodenticle (otd)
    Homologene
    FAMILY bicoid subfamily of homeodomain containing transcription factors
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • required for sense organ development
  • required for the refinement of exuberant axonal projections to subcortical targets
  • transcription factor with an essential role in the development of the cerebellum
  • not crucial for the development of visual cortex identity but for the determination of the proportion of cortical areas to the whole neocortex
  • may be important in ciliary body development
  • involvement in B-cell lymphomagenesis
  • involved in differentiation of young neurons of the deeper cortical layers
  • OTX1 and OTX2 are important in neuronal cell development and differentiation: OTX1 primarily in the neocortex, and OTX2 in the archicortex, diencephalon, rostral brain stem, and cerebellum
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    text involved in eye developement
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with TP53 (TP53 may regulate cellular differentiation by an alternative pathway controlling OTX1 signaling only in breast cancer cells and not in physiological conditions)
    • cell & other
    REGULATION
    induced by TP53 (TP53 protein directly induces OTX1 expression by acting on its promoter)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to autism spectrum disorders (ASD)
    Variant & Polymorphism SNP
  • rs2018650 and rs13000344 were associated with ASD
    • Candidate gene
    Marker
  • molecular marker for high-grade germinal-center B -derived Non-Hodgkin Lymphoma
    • Therapy target
    ANIMAL & CELL MODELS