GLE1L
| GLE1 RNA export mediator | |||||||||||||
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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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| More reference expression data | |||||||||||||
| 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: 128.5 – 128.54 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]
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.[3]
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]
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, Kestilä M, Pakkasjärvi 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.
- 1 2 "Entrez Gene: GLE1L GLE1 RNA export mediator-like (yeast)".
- ↑ 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.
- ↑ Rayala HJ, Kendirgi F, Barry DM, Majerus PW, Wente SR (Feb 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.
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, Suyama A, Sugano S (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.
- Kendirgi F, Barry DM, Griffis ER, Powers MA, Wente SR (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, Majerus PW, Wente SR (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.
- Kendirgi F, Rexer DJ, Alcázar-Román AR, Onishko HM, Wente SR (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.