GLE1L

GLE1
Identifiers
Aliases	GLE1, GLE1L, LCCS, LCCS1, hRNA export mediator, GLE1 RNA export mediator, CAAHC, CAAHD
External IDs	OMIM: 603371; MGI: 1921662; HomoloGene: 20379; GeneCards: GLE1; OMA:GLE1 - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q34.11 Start 128,504,655 bp[1] End 128,543,874 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 B Start 29,825,438 bp[2] End 29,850,383 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell tendon of biceps brachii right testis left testis granulocyte gastrocnemius muscle sperm monocyte ventricular zone islet of Langerhans Top expressed in secondary oocyte primary oocyte zygote yolk sac Rostral migratory stream ureter ascending aorta renal corpuscle neural layer of retina aortic valve More reference expression data BioGPS More reference expression data
Gene ontology Molecular function identical protein binding protein binding inositol hexakisphosphate binding phospholipid binding translation initiation factor binding Cellular component membrane nucleus nuclear pore cytoplasmic filaments nuclear pore extracellular space nucleolus cytoplasm cytosol nuclear membrane Biological process protein transport poly(A)+ mRNA export from nucleus mRNA transport mRNA export from nucleus regulation of translational termination regulation of translational initiation transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 2: 29.83 – 29.85 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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. GRCh38: Ensembl release 89: ENSG00000119392 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000019715 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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. Bibcode:1998PNAS...95.6779W. 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. "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.