GLE1L
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| GLE1 RNA export mediator homolog (yeast) | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | GLE1; GLE1L; LCCS; LCCS1; hGLE1 | ||||||||||||
| External IDs | OMIM: 603371 MGI: 1921662 HomoloGene: 20379 GeneCards: GLE1 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 2733 | 74412 | |||||||||||
| Ensembl | ENSG00000119392 | ENSMUSG00000019715 | |||||||||||
| UniProt | Q53GS7 | Q8R322 | |||||||||||
| RefSeq (mRNA) | NM_001003722 | NM_028923 | |||||||||||
| RefSeq (protein) | NP_001003722 | NP_083199 | |||||||||||
| Location (UCSC) | Chr 9: 131.27 – 131.3 Mb | Chr 2: 29.94 – 29.96 Mb | |||||||||||
| PubMed search | |||||||||||||
Nucleoporin GLE1 is a protein that in humans is encoded by the GLE1 gene on chromosome 9.[1][2][3]
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.[3]
Interactions
GLE1L has been shown to interact with NUP155.[4]
Mutation & Diseases
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.[5] Mutations in GLEI have been identified in families with foetal motoneuron disease.[6]
References
- ↑ Watkins JL, Murphy R, Emtage JL, Wente SR (Jul 1998). "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. doi:10.1073/pnas.95.12.6779. PMC 22633. PMID 9618489.
- ↑ Nousiainen HO, Kestila M, Pakkasjarvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L (Jan 2008). "Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease". Nat Genet 40 (2): 155–7. doi:10.1038/ng.2007.65. PMC 2684619. PMID 18204449.
- ↑ 3.0 3.1 "Entrez Gene: GLE1L GLE1 RNA export mediator-like (yeast)".
- ↑ Rayala, Heidi J; Kendirgi Frederic, Barry Dianne M, Majerus Philip W, Wente Susan R (Feb 2004). "The mRNA export factor human Gle1 interacts with the nuclear pore complex protein Nup155". Mol. Cell Proteomics (United States) 3 (2): 145–55. doi:10.1074/mcp.M300106-MCP200. ISSN 1535-9476. PMID 14645504.
- ↑ Mäkelä-Bengs P, Järvinen N, Vuopala K, Suomalainen A, Palotie A, Peltonen L (1997). "The assignment the lethal congenital contracture syndrome (LCCS) locus to chromosome 9q33-34". Am. J. Hum. Genet. 61 (suppl): A30.
- ↑ Nousiainen HO, Kestilä M, Pakkasjärvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L (February 2008). "Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease". Nature Genetics 40 (2): 155–157. doi:10.1038/ng.2007.65. PMC 2684619. PMID 18204449.
Further reading
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Kendirgi F, Barry DM, Griffis ER, et al. (2003). "An essential role for hGle1 nucleocytoplasmic shuttling in mRNA export". J. Cell Biol. 160 (7): 1029–40. doi:10.1083/jcb.200211081. PMC 2172758. PMID 12668658.
- Rayala HJ, Kendirgi F, Barry DM, et al. (2004). "The mRNA export factor human Gle1 interacts with the nuclear pore complex protein Nup155". Mol. Cell Proteomics 3 (2): 145–55. doi:10.1074/mcp.M300106-MCP200. PMID 14645504.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature 429 (6990): 369–74. doi:10.1038/nature02465. PMC 2734081. PMID 15164053.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Kendirgi F, Rexer DJ, Alcázar-Román AR, et al. (2006). "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. doi:10.1091/mbc.E04-11-0998. PMC 1196339. PMID 16000379.
- Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
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