Gene Symbol: Rbfox1
Description: RNA binding protein, fox-1 homolog (C. elegans) 1
Alias: A2bp, A2bp1, Hrnbp1, fox-1, RNA binding protein fox-1 homolog 1, ataxin 2 binding protein 1, fox-1 homolog A, hexaribonucleotide binding protein 1
Species: mouse
Products:     Rbfox1

Top Publications

  1. Lee J, Tang Z, Black D. An inducible change in Fox-1/A2BP1 splicing modulates the alternative splicing of downstream neuronal target exons. Genes Dev. 2009;23:2284-93 pubmed publisher
    ..We show that Fox-1/Ataxin 2-Binding Protein 1 (A2BP1), a protein implicated in a variety of neurological diseases, can counteract the effects of chronic depolarization ..
  2. Shibata H, Huynh D, Pulst S. A novel protein with RNA-binding motifs interacts with ataxin-2. Hum Mol Genet. 2000;9:1303-13 pubmed
    ..Using the yeast two-hybrid system, we identified a novel protein, A2BP1 (ataxin-2 binding protein 1) which binds to the C-terminus of ataxin-2...
  3. Jin Y, Suzuki H, Maegawa S, Endo H, Sugano S, Hashimoto K, et al. A vertebrate RNA-binding protein Fox-1 regulates tissue-specific splicing via the pentanucleotide GCAUG. EMBO J. 2003;22:905-12 pubmed
    ..We found that Fox-1 promoted inclusion of the fibronectin EIIIB exon. Thus, we conclude that Fox-1 plays key roles in both positive and negative regulation of tissue-specific splicing via GCAUG. ..
  4. Nakahata S, Kawamoto S. Tissue-dependent isoforms of mammalian Fox-1 homologs are associated with tissue-specific splicing activities. Nucleic Acids Res. 2005;33:2078-89 pubmed
    ..In mammals, there are at least two Fox-1-related genes, ataxin-2 binding protein 1 (A2BP1)/Fox-1 and Fxh/Rbm9, which encode an identical RRM...
  5. Underwood J, Boutz P, Dougherty J, Stoilov P, Black D. Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals. Mol Cell Biol. 2005;25:10005-16 pubmed
    ..They do this through a splicing enhancer function, in addition to their apparent negative effects on splicing in vertebrate muscle and in worms. ..
  6. Fukumura K, Kato A, Jin Y, Ideue T, Hirose T, Kataoka N, et al. Tissue-specific splicing regulator Fox-1 induces exon skipping by interfering E complex formation on the downstream intron of human F1gamma gene. Nucleic Acids Res. 2007;35:5303-11 pubmed
    ..In addition, we located a region of the Fox-1 protein that is required for inducing exon skipping. Taken together, our data show a novel mechanism of how RNA-binding proteins regulate alternative splicing. ..
  7. Tang Z, Zheng S, Nikolic J, Black D. Developmental control of CaV1.2 L-type calcium channel splicing by Fox proteins. Mol Cell Biol. 2009;29:4757-65 pubmed publisher
    ..These results demonstrate that the Fox protein family is playing a key role in tuning the properties of CaV1.2 calcium channels during neuronal development. ..
  8. Kiehl T, Shibata H, Vo T, Huynh D, Pulst S. Identification and expression of a mouse ortholog of A2BP1. Mamm Genome. 2001;12:595-601 pubmed
    ..It interacts at its C-terminus with ataxin-2 binding protein 1, A2BP1. This study presents a highly conserved mouse ortholog of A2BP1, designated A2bp1...
  9. Gehman L, Stoilov P, Maguire J, Damianov A, Lin C, Shiue L, et al. The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain. Nat Genet. 2011;43:706-11 pubmed publisher
    ..We show here that central nervous system-specific deletion of the gene encoding Rbfox1 results in heightened susceptibility to spontaneous and kainic acid-induced seizures...

More Information


  1. Kim K, Kim Y, Adelstein R, Kawamoto S. Fox-3 and PSF interact to activate neural cell-specific alternative splicing. Nucleic Acids Res. 2011;39:3064-78 pubmed publisher
    Fox-1 family (Fox) proteins, which consist of Fox-1 (A2BP1), Fox-2 (Rbm9) and Fox-3 (NeuN) in mammals, bind to the RNA element UGCAUG and regulate alternative pre-mRNA splicing...
  2. Hammock E, Levitt P. Developmental expression mapping of a gene implicated in multiple neurodevelopmental disorders, A2bp1 (Fox1). Dev Neurosci. 2011;33:64-74 pubmed publisher
    The neuronal transcription splicing factor, A2BP1, has been implicated in a variety of neurodevelopmental disorders; however, the role of A2BP1 in brain development and gene regulatory function remains to be explicated...
  3. Han J, Ding J, Byeon C, Kim J, Hertel K, Jeong S, et al. SR proteins induce alternative exon skipping through their activities on the flanking constitutive exons. Mol Cell Biol. 2011;31:793-802 pubmed publisher
  4. Bitel C, Nathan R, Wong P, Kuppasani S, Matsushita M, Kanazawa H, et al. Evidence that "brain-specific" FOX-1, FOX-2, and nPTB alternatively spliced isoforms are produced in the lens. Curr Eye Res. 2011;36:321-7 pubmed
  5. O Brien J, Drews V, Jones J, Dugas J, Barres B, Meisler M. Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8A. Mol Cell Neurosci. 2012;49:120-6 pubmed publisher
    ..Transcripts containing exon 18N appear to be degraded by nonsense-mediated decay in HEK cells. Our data indicate that RBFOX proteins contribute to the cell-specific expression of Na(v)1.6 channels in mature neurons. ..
  6. Pericacho M, Velasco S, Prieto M, Llano E, Lopez Novoa J, Rodriguez Barbero A. Endoglin haploinsufficiency promotes fibroblast accumulation during wound healing through Akt activation. PLoS ONE. 2013;8:e54687 pubmed publisher
    ..These studies open new non-Smad signaling pathway for endoglin regulating fibroblast cell function during wound healing, as new therapeutic opportunities for the treatment of fibrotic wounds. ..
  7. Hamada N, Ito H, Iwamoto I, Mizuno M, Morishita R, Inaguma Y, et al. Biochemical and morphological characterization of A2BP1 in neuronal tissue. J Neurosci Res. 2013;91:1303-11 pubmed publisher
    b>A2BP1 is considered to regulate alternative splicing of important neuronal transcripts and has been implicated in a variety of neurological and developmental disorders...
  8. Pistoni M, Shiue L, Cline M, Bortolanza S, Neguembor M, Xynos A, et al. Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD). PLoS Genet. 2013;9:e1003186 pubmed publisher
    ..b>Rbfox1 knockdown, over-expression, and RNA-IP confirm that these are direct Rbfox1 targets...
  9. Runfola V, Sebastian S, Dilworth F, Gabellini D. Rbfox proteins regulate tissue-specific alternative splicing of Mef2D required for muscle differentiation. J Cell Sci. 2015;128:631-7 pubmed publisher
    ..Accordingly, we found direct and specific Rbfox1 and Rbfox2 binding to Mef2D pre-mRNA in vivo...
  10. Lee J, Damianov A, Lin C, Fontes M, Parikshak N, Anderson E, et al. Cytoplasmic Rbfox1 Regulates the Expression of Synaptic and Autism-Related Genes. Neuron. 2016;89:113-28 pubmed publisher
    Human genetic studies have identified the neuronal RNA binding protein, Rbfox1, as a candidate gene for autism spectrum disorders...
  11. Rajman M, Metge F, Fiore R, Khudayberdiev S, Aksoy Aksel A, Bicker S, et al. A microRNA-129-5p/Rbfox crosstalk coordinates homeostatic downscaling of excitatory synapses. EMBO J. 2017;36:1770-1787 pubmed publisher
    ..Furthermore, we characterized a functional crosstalk between miR-129-5p and the RNA-binding protein (RBP) Rbfox1. In the absence of PTX, Rbfox1 promoted the expression of Atp2b4 and Dcx...
  12. Hakim N, Kounishi T, Alam A, Tsukahara T, Suzuki H. Alternative splicing of Mef2c promoted by Fox-1 during neural differentiation in P19 cells. Genes Cells. 2010;15:255-67 pubmed publisher
    ..Taken together, our results suggest that Fox-1, expressed specifically in the neural cell stage, promoted Mef2c exon ? inclusion via the GCAUG. ..
  13. Lee A, Chen W, Stippec S, Self J, Yang F, Ding X, et al. Protein kinase WNK3 regulates the neuronal splicing factor Fox-1. Proc Natl Acad Sci U S A. 2012;109:16841-6 pubmed publisher
    ..These findings demonstrate a role of WNK3 in RNA processing. Considering the implication of WNK3 and Fox-1 in disorders of neuronal development such as autism, WNK3 may offer a target for treatment of Fox-1-induced disease. ..
  14. Pedrotti S, Giudice J, Dagnino Acosta A, Knoblauch M, Singh R, Hanna A, et al. The RNA-binding protein Rbfox1 regulates splicing required for skeletal muscle structure and function. Hum Mol Genet. 2015;24:2360-74 pubmed publisher
    ..b>Rbfox1 is abundant in vertebrate brain, heart and skeletal muscle...
  15. Gao C, Ren S, Lee J, Qiu J, Chapski D, Rau C, et al. RBFox1-mediated RNA splicing regulates cardiac hypertrophy and heart failure. J Clin Invest. 2016;126:195-206 pubmed publisher
    ..and bioinformatic analysis approach and identified a muscle-specific isoform of an RNA splicing regulator, RBFox1 (also known as A2BP1), as a prominent regulator of alternative RNA splicing during heart failure...