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FLASH GENE
Symbol RFX3 contributors: mct - updated : 14-12-2016
HGNC name regulatory factor X, 3 (influences HLA class II expression)
HGNC id 9984
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a specific DNA-binding domain
  • a dimerization domain
  • HOMOLOGY
    Homologene
    FAMILY
  • RFX family
  • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • transactivating DNA binding regulator 3, involved in MHC class II expression
  • may be important repressors of collagen gene transcription through a RFX binding site spanning the transcription start site
  • modulator of Ras signaling in epithelial cells
  • participates in the mechanisms that govern pancreatic endocrine cell differentiation and that the presence of primary cilia on islet cells may play a key role in this process (Ait-Lounis 2007)
  • regulates the expression of genes required for the growth and function of cilia (Ait-Lounis 2007)
  • FOXJ1 is essential for ciliogenesis upstream of RFX3 in the node
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding to the MHC promoter box X
    RNA
    small molecule
    protein
  • RFX3 is a transcriptional co-activator to FOXJ1, helping to induce the expression of cilia genes in the process of ciliated cell differentiation of basal/progenitor cells
  • TP73 directly activates the key regulators FOXJ1, RFX2, RFX3
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Rfx3-deficient mice suffer from hydrocephalus without stenosis of the aqueduct of Sylvius (RFX3 is necessary for ciliated ependymal cell differentiation in the mouse) (Baas 2007)