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FLASH GENE
Symbol RFXAP contributors: mct - updated : 03-01-2012
HGNC name regulatory factor X-associated protein
HGNC id 9988
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
an acidic domain reminiscent of transcription activation domains
secondary structure Three differents subunits RFXAP, RFX5,RFXB
mono polymer heteromer , trimer
HOMOLOGY
interspecies homolog to C.elegans Zk1010.4
Homologene
FAMILY
CATEGORY regulatory , DNA associated , transcription factor
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm
intracellular,nucleus
text
  • two RFX5 molecules and one RFXAP molecule assemble in the cytoplasm prior to nuclear localization, a process mediated by an N-terminal "dimerization domain" of RFX5 (RFX5(N)) and a C-terminal domain of RFXAP (RFXAP(C)
  • basic FUNCTION
  • transactivating DNA binding regulatory factor,involved in MHC class II expression
  • DNA binding of RFX5 is inhibited by domains flanking its DNA binding domain, and both RFXAP and RFXANK are required to overcome the inhibition of both domains
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • subunit of the multimeric phosphoprotein complex RFX, containing RFX5, RFXANK, RFXAP
  • forms the heterotrimeric RFX complex together with RFX5 and RFXAP, all are required for expression of MHCII genes
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction between RFX5 and RFXAP promote folding of a poorly structured region of RFXAP, which is required for high affinity binding of RFXB to the RFX5/RFXAP complex
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BLS2D
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    Transcriptional silencing of RFXAP in MHC class II-deficiency
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS