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FLASH GENE
Symbol FXR1 contributors: mct/npt - updated : 23-06-2015
HGNC name fragile X mental retardation, autosomal homolog 1
HGNC id 4023
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two K homology (KH) domain, and KH2 domains bind kissing complex RNA ligands with the same affinity as the FMR1 KH2 domain although other KH domains do not (Darnell 2009)
  • one RGG motif
  • a nuclear export signal (NES) and a nuclear targeting signal
  • a nuclear localization signals of FXR1 and also FXR2 with tandem Tudor domain architectures, closely resembling that of UHRF1, which is proposed to bind methylated histone H3K9
    • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    intraspecies homolog to FMR1,FXR2 (see symbols)
    Homologene
    FAMILY
  • FMR1 family
    • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • putative target for the autoimmune response
  • plays an important role in normal muscle development, and its absence causes muscular abnormalities in mice
  • role of FXR1 that has crucial implications for the understanding of its role during myogenesis and muscle development
  • plays an important role in normal muscle development
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • homodimerizing and heterodimerizing with FMR1 and FXR2
    • INTERACTION
    DNA
    RNA binding
    small molecule
    protein
  • DSP and TLN2 are novel mRNA targets of fragile X-related protein-1 in cardiac muscle
  • DSP and TLN2 mRNAs associate with FXR1 in a complex
  • functional association between LMNA and fragile X-related protein 1 (FXR1)
  • 10 FXR1-interacting proteins including Bcl-2-associated transcription factor 1 (BCLAF1)
  • binding of PKP1/3 to FXR1 was RNA independent, and both PKP3 and FXR1 stabilized PKP2 mRNA
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    altered expression in FSHMD1A myoblasts may contribute to the physiopathology of this disease (Davidovic 2008)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS