GLE1L explained

Nucleoporin GLE1 is a protein that in humans is encoded by the GLE1 gene on chromosome 9.^{[1] [2] [3]}

Function

This gene encodes a predicted 75-kDa polypeptide with high sequence and structure homology to yeast Gle1p, which is nuclear protein with a leucine-rich nuclear export sequence essential for poly(A)+RNA export. Inhibition of human GLE1L by microinjection of antibodies against GLE1L in HeLa cells resulted in inhibition of poly(A)+RNA export. Immunoflourescence studies show that GLE1L is localized at the nuclear pore complexes. This localization suggests that GLE1L may act at a terminal step in the export of mature RNA messages to the cytoplasm. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Clinical significance

A genome-wide screening and linkage analysis assigned the disease locus of lethal congenital contracture syndrome, one of 40 Finnish heritage diseases, to a defined region of 9q34, where the GLE1 gene is located.^[4] Mutations in GLEI have been identified in families with foetal motoneuron disease.^[5]

Interactions

GLE1L has been shown to interact with NUP155.^[6]

Further reading

• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–4 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 .
• Kendirgi F, Barry DM, Griffis ER, Powers MA, Wente SR . An essential role for hGle1 nucleocytoplasmic shuttling in mRNA export . J. Cell Biol. . 160 . 7 . 1029–40 . 2003 . 12668658 . 2172758 . 10.1083/jcb.200211081 .
• Rayala HJ, Kendirgi F, Barry DM, Majerus PW, Wente SR . The mRNA export factor human Gle1 interacts with the nuclear pore complex protein Nup155 . Mol. Cell. Proteomics . 3 . 2 . 145–55 . 2004 . 14645504 . 10.1074/mcp.M300106-MCP200 . free .
• Kendirgi F, Rexer DJ, Alcázar-Román AR, Onishko HM, Wente SR . Interaction between the Shuttling mRNA Export Factor Gle1 and the Nucleoporin hCG1: A Conserved Mechanism in the Export of Hsp70 mRNA . Mol. Biol. Cell . 16 . 9 . 4304–15 . 2006 . 16000379 . 1196339 . 10.1091/mbc.E04-11-0998 .

Notes and References

1. Watkins JL, Murphy R, Emtage JL, Wente SR . The human homologue of Saccharomyces cerevisiae Gle1p is required for poly(A)+ RNA export . Proc Natl Acad Sci U S A . 95 . 12 . 6779–84 . Jul 1998 . 9618489 . 22633 . 10.1073/pnas.95.12.6779 . 1998PNAS...95.6779W . free .
2. Nousiainen HO, Kestilä M, Pakkasjärvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L . Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease . Nat Genet . 40 . 2 . 155–7 . Jan 2008 . 18204449 . 2684619 . 10.1038/ng.2007.65 .
3. Web site: Entrez Gene: GLE1L GLE1 RNA export mediator-like (yeast).
4. Mäkelä-Bengs P, Järvinen N, Vuopala K, Suomalainen A, Palotie A, Peltonen L . The assignment the lethal congenital contracture syndrome (LCCS) locus to chromosome 9q33-34 . Am. J. Hum. Genet. . 61 . suppl . A30 . 1997 .
5. Nousiainen HO, Kestilä M, Pakkasjärvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L . Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease . Nature Genetics . 40 . 2 . 155–157 . February 2008 . 18204449 . 2684619 . 10.1038/ng.2007.65 .
6. Rayala HJ, Kendirgi F, Barry DM, Majerus PW, Wente SR . The mRNA export factor human Gle1 interacts with the nuclear pore complex protein Nup155 . Mol. Cell. Proteomics . 3 . 2 . 145–55 . Feb 2004 . 14645504 . 10.1074/mcp.M300106-MCP200 . free .