| 词条 | GLE1L |
| 释义 |
FunctionThis 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 significanceA 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] InteractionsGLE1L has been shown to interact with NUP155.[6] References1. ^{{cite journal | vauthors = Watkins JL, Murphy R, Emtage JL, Wente SR | title = The human homologue of Saccharomyces cerevisiae Gle1p is required for poly(A)+ RNA export | journal = Proc Natl Acad Sci U S A | volume = 95 | issue = 12 | pages = 6779–84 | date = Jul 1998 | pmid = 9618489 | pmc = 22633 | doi = 10.1073/pnas.95.12.6779 }} 2. ^{{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 = Nat Genet | volume = 40 | issue = 2 | pages = 155–7 | date = Jan 2008 | pmid = 18204449 | pmc = 2684619 | doi = 10.1038/ng.2007.65 }} 3. ^1 {{cite web | title = Entrez Gene: GLE1L GLE1 RNA export mediator-like (yeast)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2733| accessdate = }} 4. ^{{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 | pmid = | doi = | url = | issn = }} 5. ^{{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 }} 6. ^{{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 }} Further reading{{refbegin | 2}}
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