Biology:GLE1L
 Generic protein structure example |
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
- ↑ "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. doi:10.1073/pnas.95.12.6779. PMID 9618489. Bibcode: 1998PNAS...95.6779W.
- ↑ "Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease". Nat Genet 40 (2): 155–7. Jan 2008. doi:10.1038/ng.2007.65. PMID 18204449.
- ↑ 3.0 3.1 "Entrez Gene: GLE1L GLE1 RNA export mediator-like (yeast)". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=2733.
- ↑ "The assignment the lethal congenital contracture syndrome (LCCS) locus to chromosome 9q33-34". Am. J. Hum. Genet. 61 (suppl): A30. 1997.
- ↑ "Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease". Nature Genetics 40 (2): 155–157. February 2008. doi:10.1038/ng.2007.65. PMID 18204449.
- ↑ "The mRNA export factor human Gle1 interacts with the nuclear pore complex protein Nup155". Mol. Cell. Proteomics 3 (2): 145–55. Feb 2004. doi:10.1074/mcp.M300106-MCP200. PMID 14645504.
Further reading
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- "An essential role for hGle1 nucleocytoplasmic shuttling in mRNA export". J. Cell Biol. 160 (7): 1029–40. 2003. doi:10.1083/jcb.200211081. PMID 12668658.
- "The mRNA export factor human Gle1 interacts with the nuclear pore complex protein Nup155". Mol. Cell. Proteomics 3 (2): 145–55. 2004. doi:10.1074/mcp.M300106-MCP200. PMID 14645504.
- "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. doi:10.1091/mbc.E04-11-0998. PMID 16000379.
 |  |
