GLE1L

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GLE1
Identifiers
Aliases GLE1, GLE1L, LCCS, LCCS1, hRNA export mediator
External IDs MGI: 1921662 HomoloGene: 20379 GeneCards: GLE1
RNA expression pattern
PBB GE GLE1L 206920 s at fs.png

PBB GE GLE1L 206921 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001003722
NM_001499

NM_028923

RefSeq (protein)

NP_001003722
NP_001490

NP_083199.1
NP_083199

Location (UCSC) Chr 9: 128.5 – 128.54 Mb Chr 2: 29.94 – 29.96 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Nucleoporin GLE1 is a protein that in humans is encoded by the GLE1 gene on chromosome 9.[3][4][5]

Function[edit]

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.[5]

Clinical significance[edit]

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.[6] Mutations in GLEI have been identified in families with foetal motoneuron disease.[7]

Interactions[edit]

GLE1L has been shown to interact with NUP155.[8]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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 22633Freely accessible. PMID 9618489. 
  4. ^ 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 2684619Freely accessible. PMID 18204449. 
  5. ^ a b "Entrez Gene: GLE1L GLE1 RNA export mediator-like (yeast)". 
  6. ^ 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. 
  7. ^ 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 2684619Freely accessible. PMID 18204449. 
  8. ^ 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[edit]