GLE1L

GLE1
Identifiers
AliasesGLE1, GLE1L, LCCS, LCCS1, hRNA export mediator
External IDsMGI: 1921662 HomoloGene: 20379 GeneCards: GLE1
Gene location (Human)
Chr.Chromosome 9 (human)[1]
Band9q34.11Start128,504,700 bp[1]
End128,542,288 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

2733

74412

Ensembl

ENSG00000119392

ENSMUSG00000019715

UniProt

Q53GS7

Q8R322

RefSeq (mRNA)

NM_001003722
NM_001499

NM_028923

RefSeq (protein)

NP_001003722
NP_001490

NP_083199

Location (UCSC)Chr 9: 128.5 – 128.54 MbChr 2: 29.94 – 29.96 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Nucleoporin GLE1 is a protein that in humans is encoded by the GLE1 gene on chromosome 9.[5][6][7]

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.[7]

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.[8] Mutations in GLEI have been identified in families with foetal motoneuron disease.[9]

Interactions

GLE1L has been shown to interact with NUP155.[10]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000119392 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000019715 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ 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.
  6. ↑ 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.
  7. 1 2 "Entrez Gene: GLE1L GLE1 RNA export mediator-like (yeast)".
  8. ↑ 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.
  9. ↑ 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.
  10. ↑ 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.


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