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FLASH GENE
Symbol VSX1 contributors: npt/mct/shn - updated : 19-03-2019
HGNC name visual system homeobox 1
HGNC id 12723
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an octapeptide, a proline-rich
  • an acid rich region
  • a nuclear localization signal (NLS)
  • the helix-turn helix homeodomain
  • a CVC domain (goldfish ca-Vsx1, Vsx2)
  • a C terminal conserved RV (RINX-VSX1) domain
    • HOMOLOGY
    interspecies ortholog to Vsx1, Mus musculus
    ortholog to vsx1, Danio rerio
    ortholog to Vsx1, Rattus norvegicus
    ortholog to VSX1, Pan troglodytes
    intraspecies homolog to CHX10,CRX
    Homologene
    FAMILY
  • vertebrate paired-like homeodomain transcription factor family
  • paired homeobox family
    • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • playing a role in the development of cone cells
  • required for the late differentiation and function of OFF-cone bipolar cells and associated with a heritable OFF visual pathway-specific retinal defect
  • with IRX5, control specific aspects of visual function in circuits of the mammalian retina (Kerschensteiner 2008)
  • may have an important role in the pathogenesis of keratoconus (
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
    INTERACTION
    DNA binding to locus control region of the cone pigment cluster LCR-RGCP@
    RNA
    small molecule
    protein
  • VSX2
  • VSX1 has likely a partial inhibitory effect on the expression of IRX6
  • IRX6 can activate or repress transcription through Iroquois-binding sites found proximal to RCVRN, VSX1 and TACR3
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CAASDS , KTCN1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS