RBM8A explained

RNA-binding protein 8A is a protein that in humans is encoded by the RBM8A gene.^{[1] [2]}

This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. Two alternative start codons result in two forms of the protein, and this gene also uses multiple polyadenylation sites.^[3]

Interactions

RBM8A has been shown to interact with IPO13,^[4] MAGOH^{[5] [6]} and UPF3A.^[7]

Related gene problems

• TAR syndrome^[8]
• 1q21.1 deletion syndrome
• 1q21.1 duplication syndrome

Further reading

• Wilson KF, Fortes P, Singh US, etal . The nuclear cap-binding complex is a novel target of growth factor receptor-coupled signal transduction . J. Biol. Chem. . 274 . 7 . 4166–73 . 1999 . 9933612 . 10.1074/jbc.274.7.4166 . free .
• Zhao XF, Nowak NJ, Shows TB, Aplan PD . MAGOH interacts with a novel RNA-binding protein . Genomics . 63 . 1 . 145–8 . 2000 . 10662555 . 10.1006/geno.1999.6064 .
• Kataoka N, Yong J, Kim VN, etal . Pre-mRNA splicing imprints mRNA in the nucleus with a novel RNA-binding protein that persists in the cytoplasm . Mol. Cell . 6 . 3 . 673–82 . 2000 . 11030346 . 10.1016/S1097-2765(00)00065-4 . free .
• Zhang QH, Ye M, Wu XY, etal . Cloning and Functional Analysis of cDNAs with Open Reading Frames for 300 Previously Undefined Genes Expressed in CD34+ Hematopoietic Stem/Progenitor Cells . Genome Res. . 10 . 10 . 1546–60 . 2001 . 11042152 . 10.1101/gr.140200 . 310934 .
• Le Hir H, Izaurralde E, Maquat LE, Moore MJ . The spliceosome deposits multiple proteins 20–24 nucleotides upstream of mRNA exon–exon junctions . EMBO J. . 19 . 24 . 6860–9 . 2001 . 11118221 . 10.1093/emboj/19.24.6860 . 305905 .
• Mingot JM, Kostka S, Kraft R, etal . Importin 13: a novel mediator of nuclear import and export . EMBO J. . 20 . 14 . 3685–94 . 2001 . 11447110 . 10.1093/emboj/20.14.3685 . 125545 .
• Kim VN, Kataoka N, Dreyfuss G . Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex . Science . 293 . 5536 . 1832–6 . 2001 . 11546873 . 10.1126/science.1062829 . 2001Sci...293.1832K . 12018200 .
• Lykke-Andersen J, Shu MD, Steitz JA . Communication of the position of exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1 . Science . 293 . 5536 . 1836–9 . 2001 . 11546874 . 10.1126/science.1062786 . 2001Sci...293.1836L . 389385 .
• Hachet O, Ephrussi A . Drosophila Y14 shuttles to the posterior of the oocyte and is required for oskar mRNA transport . Curr. Biol. . 11 . 21 . 1666–74 . 2002 . 11696323 . 10.1016/S0960-9822(01)00508-5 . 2373806 . free .
• Faurholm B, Millar RP, Katz AA . The genes encoding the type II gonadotropin-releasing hormone receptor and the ribonucleoprotein RBM8A in humans overlap in two genomic loci . Genomics . 78 . 1–2 . 15–8 . 2002 . 11707068 . 10.1006/geno.2001.6650 .
• Kataoka N, Diem MD, Kim VN, etal . Magoh, a human homolog of Drosophila mago nashi protein, is a component of the splicing-dependent exon–exon junction complex . EMBO J. . 20 . 22 . 6424–33 . 2002 . 11707413 . 10.1093/emboj/20.22.6424 . 125744 .
• Jurica MS, Licklider LJ, Gygi SR, etal . Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis . RNA . 8 . 4 . 426–39 . 2002 . 11991638 . 10.1017/S1355838202021088 . 1370266 .
• Okubo K, Mitani H, Naruse K, etal . Conserved physical linkage of GnRH-R and RBM8 in the medaka and human genomes . Biochem. Biophys. Res. Commun. . 293 . 1 . 327–31 . 2002 . 12054603 . 10.1016/S0006-291X(02)00161-4 .
• Lejeune F, Ishigaki Y, Li X, Maquat LE . The exon junction complex is detected on CBP80-bound but not eIF4E-bound mRNA in mammalian cells: dynamics of mRNP remodeling . EMBO J. . 21 . 13 . 3536–45 . 2002 . 12093754 . 10.1093/emboj/cdf345 . 126094 .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Gehring NH, Neu-Yilik G, Schell T, etal . Y14 and hUpf3b form an NMD-activating complex . Mol. Cell . 11 . 4 . 939–49 . 2003 . 12718880 . 10.1016/S1097-2765(03)00142-4 . free .
• Fribourg S, Gatfield D, Izaurralde E, Conti E . A novel mode of RBD-protein recognition in the Y14-Mago complex . Nat. Struct. Biol. . 10 . 6 . 433–9 . 2003 . 12730685 . 10.1038/nsb926 . 40116577 .
• Lau CK, Diem MD, Dreyfuss G, Van Duyne GD . Structure of the Y14-Magoh core of the exon junction complex . Curr. Biol. . 13 . 11 . 933–41 . 2004 . 12781131 . 10.1016/S0960-9822(03)00328-2 . 14752714 . free .

Notes and References

1. Conklin DC, Rixon MW, Kuestner RE, Maurer MF, Whitmore TE, Millar RP . Cloning and gene expression of a novel human ribonucleoprotein . Biochim Biophys Acta . 1492 . 2–3 . 465–9 . October 2000 . 11004516 . 10.1016/s0167-4781(00)00090-7.
2. Salicioni AM, Xi M, Vanderveer LA, Balsara B, Testa JR, Dunbrack RL Jr, Godwin AK . Identification and structural analysis of human RBM8A and RBM8B: two highly conserved RNA-binding motif proteins that interact with OVCA1, a candidate tumor suppressor . Genomics . 69 . 1 . 54–62 . October 2000 . 11013075 . 10.1006/geno.2000.6315 .
3. Web site: Entrez Gene: RBM8A RNA binding motif protein 8A.
4. Mingot . J M . Kostka S . Kraft R . Hartmann E . Görlich D . July 2001 . Importin 13: a novel mediator of nuclear import and export . EMBO J. . 20 . 14 . 3685–94 . England. 0261-4189. 11447110 . 10.1093/emboj/20.14.3685 . 125545 .
5. Zhao . X F . Nowak N J . Shows T B . Aplan P D . January 2000 . MAGOH interacts with a novel RNA-binding protein . Genomics . 63 . 1 . 145–8 . UNITED STATES. 0888-7543. 10662555 . 10.1006/geno.1999.6064 .
6. Kataoka . N . Diem M D . Kim V N . Yong J . Dreyfuss G . November 2001 . Magoh, a human homolog of Drosophila mago nashi protein, is a component of the splicing-dependent exon–exon junction complex . EMBO J. . 20 . 22 . 6424–33 . England. 0261-4189. 11707413 . 10.1093/emboj/20.22.6424 . 125744 .
7. Kim . V N . Kataoka N . Dreyfuss G . September 2001 . Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex . . 293 . 5536 . 1832–6 . United States. 0036-8075. 11546873 . 10.1126/science.1062829 . 2001Sci...293.1832K . 12018200 .
8. Klopocki E, Schulze H, Strauss G, etal . Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome . Am. J. Hum. Genet. . 80 . 2 . 232–40 . February 2007 . 17236129 . 1785342 . 10.1086/510919 .