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FLASH GENE
Symbol RBFOX3 contributors: mct - updated : 05-05-2016
HGNC name RNA binding protein, fox-1 homolog (C. elegans) 3
HGNC id 27097
Location 17q25.3      Physical location : 77.085.427 - 77.478.563
Synonym name
  • hexaribonucleotide binding protein 3
  • fox-1 homolog C
  • neuronal nuclei
  • Synonym symbol(s) FOX3, NEUN, FLJ56884, FLJ58356, hCG_1776007, A6NFN3, HRNBP3
    DNA
    TYPE functioning gene
    STRUCTURE 393.14 kb     14 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 2696 - 312 - 2009 19713214
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainhindbraincerebellum   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one RRM domain
  • HOMOLOGY
    intraspecies homolog to RBFOX1, RBFOX3
    Homologene
    FAMILY
  • Fox-1 gene family of splicing factors
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text
  • predominant localization to neuronal nuclei
  • basic FUNCTION
  • RNA-binding protein that regulates alternative splicing events
  • limited response of RBFOX2 and RBFOX3 to depolarizing media and the abnormal physiology of the RBFOX1 knockout brain indicate that these proteins are not fully redundant in their functions
  • nuclear RBFOX3 isoforms can also enhance the inclusion of cryptic exons in the RBFOX2 mRNA, resulting in nonsense-mediated decay of the message, thereby contributing to the negative regulation of RBFOX2 by RBFOX3 through a novel mechanism
  • neuron-specific RNA-binding protein, required to promote neuronal differentiation of postmitotic neurons
  • RBFOX3-dependent NUMB alternative splicing plays an important role in the progression of neuronal differentiation during vertebrate development
  • new function for RBFOX3 in miRNA biogenesis
  • CELLULAR PROCESS nucleotide, RNA splicing
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • intrinsic component of the neuronal nuclear matrix and a reliable marker of nuclear speckles in neurons
  • INTERACTION
    DNA
    RNA binding specifically to the UGCAUG element
    small molecule
    protein
  • NUMB premRNA encoding a signaling adaptor protein is a target of RBFOX3 action, and RBFOX3 repressed the inclusion
  • RBFOX3 regulates alternative splicing of the RBFOX2 pre-mRNA, producing a message encoding a dominant negative form of the RBFOX2 protein
  • of an alternative exon via binding to the conserved UGCAUG element in the upstream intron
  • RBFOX1, RBFOX2, RBFOX3 regulates alternative pre-mRNA splicing in various tissues via direct binding to their RNA binding element
  • neuron specific RBFOX3 protein interacts with other RBFOX family proteins
  • interactions between histone proteins and splicing factors such as RBFOX2, RBFOX3, and splicing factor proline and glutamine rich protein (SFPQ)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to rolandic epilepsy (RE)
    Variant & Polymorphism other nonsense mutation in RBFOX3 (p.Y287*)associated to rolandic epilepsy (RE) 8)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS