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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
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervousperipherousplexus  
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousependymal cell
cell lineage
cell lines
fluid/secretion blood
at STAGE
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)