RBM9 is one of several human genes similar to the C. elegans gene Fox-1. This gene encodes an RNA binding protein that is thought to be a key regulator of alternative exon splicing in the nervous system and other cell types. The protein binds to a conserved UGCAUG element found downstream of many alternatively spliced exons and promotes inclusion of the alternative exon in mature transcripts. The protein also interacts with the estrogen receptor 1 transcription factor and regulates estrogen receptor 1 transcriptional activity. Multiple transcript variants encoding different isoforms have been found for this gene.
RBM9, as determined by CLIP-seq, binds near alternatively spliced exons and regulates the inclusion or exclusion of exons during alternative splicing by binding in introns either downstream (inclusion) or upstream (exon skipping) of exons. Its presence is important for stem cell survival and knockdowns of RBM9 activate markers for apoptosis.
Dunham I, Shimizu N, Roe BA et al. (1999). "The DNA sequence of human chromosome 22". Nature402 (6761): 489–495. doi:10.1038/990031. PMID10591208.
Lieberman AP, Friedlich DL, Harmison G et al. (2001). "Androgens regulate the mammalian homologues of invertebrate sex determination genes tra-2 and fox-1". Biochem. Biophys. Res. Commun.282 (2): 499–506. doi:10.1006/bbrc.2001.4617. PMID11401487.
Ponthier JL, Schluepen C, Chen W et al. (2006). "Fox-2 splicing factor binds to a conserved intron motif to promote inclusion of protein 4.1R alternative exon 16". J. Biol. Chem.281 (18): 12468–12474. doi:10.1074/jbc.M511556200. PMID16537540.
Lim J, Hao T, Shaw C et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell125 (4): 801–814. doi:10.1016/j.cell.2006.03.032. PMID16713569.