GLE1L

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.

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.{{cite journal | vauthors = Mäkelä-Bengs P, Järvinen N, Vuopala K, Suomalainen A, Palotie A, Peltonen L | title = The assignment the lethal congenital contracture syndrome (LCCS) locus to chromosome 9q33-34 | journal = Am. J. Hum. Genet. | volume = 61 | issue = suppl | pages = A30 | year = 1997 }} Mutations in GLEI have been identified in families with foetal motoneuron disease.{{cite journal | vauthors = Nousiainen HO, Kestilä M, Pakkasjärvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L | title = Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease | journal = Nature Genetics | volume = 40 | issue = 2 | pages = 155–157 | date = February 2008 | pmid = 18204449 | pmc = 2684619 | doi = 10.1038/ng.2007.65 }}

GLE1L has been shown to interact with NUP155.{{cite journal | vauthors = Rayala HJ, Kendirgi F, Barry DM, Majerus PW, Wente SR | title = The mRNA export factor human Gle1 interacts with the nuclear pore complex protein Nup155 | journal = Mol. Cell. Proteomics | volume = 3 | issue = 2 | pages = 145–55 | date = Feb 2004 | pmid = 14645504 | doi = 10.1074/mcp.M300106-MCP200 | doi-access = free }}

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

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