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FLASH GENE
Symbol HESX1 contributors: mct/npt/pgu - updated : 03-01-2013
HGNC name HESX homeobox 1
HGNC id 4877
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • helix-turn-helix, DNA binding domain, homeodomain
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine embryonic stem cells
    Homologene
    FAMILY
  • ANF homeobox family
  • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in normal development of the forebrain, eyes and other anterior and midline structures (olfactory placodes and pituitary gland)
  • RNA polymerase 2 transcription factor, repressor of PROP1-mediated gene stimulation
  • might play a role in the maintenance of the anterior pituitary cell types and function, as well as in the differentiation of pituitary adenomas
  • required to establish binding to a portion of the N-terminus of DNMT1 and its catalytic domain in the C-terminus
  • conserved vertebrate-specific transcription factor that is required for forebrain development
  • novel function in mediating repression of Wnt/CTNNB target activation in the developing forebrain
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
  • formation of a heterodimer between HESX1 and PROP1 provides a condition in which, in the early pituitary primordium, HESX1 alters its repressive role to an active one by forming a heterodimer with newly appearing PROP1 so that PROP1 finally replaces HESX1 to advance to the middle stage of pituitary development
  • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • interacting with OTX2
  • interacting with DNMT1 (HESX1-DNMT1 complexes co-localise in the nucleus, suggesting a novel mechanism for the repressing properties of HESX1)
  • in the presence of PROP1, HESX1 develops to bind to an inverted TAAT motif by forming a heterodimer
  • possible synergistic gene dosage-dependent interaction between HESX1 and TCF3, a transcriptional repressor of Wnt target genes, to maintain anterior forebrain identity
  • cell & other
    REGULATION
    repressed by during pituitary organogenesis
    ASSOCIATED DISORDERS
    corresponding disease(s) SOPT , APIT
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mouse embryos deficient for Hesx1 exhibit a variable degree of forebrain defects