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
Gene location (Human)
Chr.	Chromosome 9 (human)[1]
End	128,543,874 bp[1]
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)[2]
End	29,850,383 bp[2]
RNA expression pattern
	Top expressed in
	gastrocnemius muscle; ; sperm; ; monocyte; ; islet of Langerhans; ; rectum; ; ganglionic eminence; ; blood; ; lymph node; ; right adrenal gland; ; internal globus pallidus;
	Top expressed in
	secondary oocyte; ; yolk sac; ; ureter; ; ascending aorta; ; renal corpuscle; ; aortic valve; ; cerebellar cortex; ; endocardial cushion; ; spermatid; ; maxillary prominence;
	More reference expression data
	; ;
	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
	2733
	74412
	ENSG00000119392
	ENSMUSG00000019715
	Q53GS7
	Q8R322
	NM_001003722; NM_001499
	NM_028923
	NP_001003722; NP_001490
	NP_083199
	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

GRCh38: Ensembl release 89: ENSG00000119392 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000019715 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
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.
"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.

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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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000119392 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid9618489-5] 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.

[pmid18204449-6] 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.

[entrez-7] "Entrez Gene: GLE1L GLE1 RNA export mediator-like (yeast)".

[makela-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.

[nousiainen-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.

[pmid14645504-10] 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.

GLE1L

Function

Clinical significance

Interactions

References

Further reading