RNA binding fox-1 homolog 1 (RBFOX1)

RNA binding fox-1 homolog 1 (RBFOX1) is a highly conserved and tissue-specific RNA binding protein central in the regulation of alternative splicing, particularly in neuronal, cardiac, and muscle tissues[1][2][3]. Through its RNA recognition motif (RRM), RBFOX1 recognizes the UGCAUG motif and modulates the inclusion or exclusion of exons in a position-dependent manner, affecting the diversity and function of protein isoforms essential for tissue development and homeostasis[1][2][4]. RBFOX1 exists in several isoforms due to alternative splicing, which can localize either to the nucleus—where its main role is in splicing regulation—or to the cytoplasm, where it also impacts mRNA stability and translation[2][4][5]. Loss or mutation of RBFOX1 impairs muscle function, and in the nervous system has been linked to cognitive, neurodevelopmental, and psychiatric disorders[3][4]. While there are no current drugs targeting RBFOX1 directly, its gene status may serve as a biomarker in select patient populations[3][4].

Other names

Ataxin-2-binding protein 1A2BP, A2BP1FOX1, FOX-1HRNBP1Fox-1 homolog AHexaribonucleotide-binding protein 12BP1Fox-1-like RNA-binding protein 1

Not established for small molecules or biologics—RBFOX1 is not a common direct drug target. Its mechanism is through regulation of alternative splicing by binding the UGCAUG RNA motif in specific pre-mRNA introns and, depending on position and isoform, altering exon inclusion/skipping[1][2][3][4][5].