Recombinant Human Nucleoporin GLE1 (GLE1)

1. Pathogenic variants in the GLE1 gene are rare in Chinese ALS patients. PMID: 29398120
2. Data indicate 2 siblings with a homozygous p.I684T mutation in RNA export mediator (GLE1). PMID: 28657126
3. These results imply that DBP5, GLE1 and IP6 have a conserved and individual function in the cytoplasmic mRNA expression. Variations in phenotype are due to the difference in each function of DBP5, GLE1 and IPPK in intracellular mRNA metabolism. PMID: 29746542
4. We identified bi-allelic mutations in GLE1 in two unrelated individuals with motor delays, feeding difficulties, and respiratory insufficiency who survived beyond the perinatal period. Each affected child had missense variants predicted to result in amino acid substitutions near the C-terminus of GLE1 that are predicted to disrupt protein-protein interaction or GLE1 protein targeting. PMID: 28884921
5. It was concluded that the amyotrophic lateral sclerosis-linked Gle1-c.1965-2A>C mutation generates a protein isoform capable of both Gle1A- and Gle1B-ascribed functions, and thereby uncoupled from normal mechanisms of Gle1 regulation. PMID: 26776475
6. We also suggest that lethal congenital contracture syndrome 1 (LCCS1) and lethal arthrogryposis with anterior horn disease (LAAHD), the two AMC subtypes related to GLE1, do not have sufficient clinical or molecular differentiation to be considered allelic disorders. Rather, GLE1 mutations cause a variable spectrum of AMC severity including a non-lethal variant described herein PMID: 27684565
7. Restoration of miR-127-3p and miR-376a-3p counteracts the neoplastic phenotype of giant cell tumor of bone derived stromal cells by targeting COA1, GLE1 and PDIA6. PMID: 26655997
8. Role for Gle1A during stress granule formation and translation regulation during environmental stress responses is examined. PMID: 25694449
9. We report the identification of the first heterozygous mutations in GLE1 ever found to be associated with amyotrophic lateral sclerosis. PMID: 25343993
10. Lethal congenital contracture syndrome 1 and lethal arthrogryposis with anterior horn cell disease are associated with defective Gle1 function during the export of mRNA. [review] PMID: 24275432
11. Report documents a requirement for Gle1 self-association during mRNA export and uncover molecular defects underlying a lethal human disease lethal congenital contracture syndrome-1. PMID: 24243016
12. Dbp5, Gle1-IP6 and Nup159: a working model for mRNP export. PMID: 22064466
13. defective zebrafish GLE1 function in human LCCS1 results in both neurogenic and non-neurogenic defects linked to the apoptosis of proliferative organ precursors PMID: 22357925
14. The unique carboxyl-terminal 43 amino acid region of the hGle1B isoform mediates binding to the C-terminal non-phenylalanine- glycine region of the nucleoporin hCG1/NPL1. PMID: 16000379
15. Mutations in mRNA export mediator GLE1 result in fetal motoneuron disease. PMID: 18204449

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HGNC: 4315

OMIM: 253310

KEGG: hsa:2733

STRING: 9606.ENSP00000308622

UniGene: Hs.522418