Identity
HGNC
LOCATION
9q34.11
LOCUSID
ALIAS
CAAHC,CAAHD,GLE1L,LCCS,LCCS1,hGLE1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2733
MIM: 603371
HGNC: 4315
Ensembl: ENSG00000119392
Variants:
dbSNP: 2733
ClinVar: 2733
TCGA: ENSG00000119392
COSMIC: GLE1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000119392 | ENST00000309971 | Q53GS7 |
| ENSG00000119392 | ENST00000372770 | Q53GS7 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37801910 | 2023 | Phosphorylation impacts GLE1 nuclear localization and association with DDX1. | 0 |
| 37801910 | 2023 | Phosphorylation impacts GLE1 nuclear localization and association with DDX1. | 0 |
| 32537934 | 2020 | Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy. | 1 |
| 32755435 | 2020 | Nucleocytoplasmic shuttling of Gle1 impacts DDX1 at transcription termination sites. | 2 |
| 32954510 | 2020 | Biallelic variants in GLE1 with survival beyond neonatal period. | 1 |
| 32981894 | 2020 | Functions of Gle1 are governed by two distinct modes of self-association. | 4 |
| 32537934 | 2020 | Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy. | 1 |
| 32755435 | 2020 | Nucleocytoplasmic shuttling of Gle1 impacts DDX1 at transcription termination sites. | 2 |
| 32954510 | 2020 | Biallelic variants in GLE1 with survival beyond neonatal period. | 1 |
| 32981894 | 2020 | Functions of Gle1 are governed by two distinct modes of self-association. | 4 |
| 30262214 | 2019 | Gle1 mediates stress granule-dependent survival during chemotoxic stress. | 7 |
| 30429220 | 2019 | MAPK- and glycogen synthase kinase 3-mediated phosphorylation regulates the DEAD-box protein modulator Gle1 for control of stress granule dynamics. | 14 |
| 30262214 | 2019 | Gle1 mediates stress granule-dependent survival during chemotoxic stress. | 7 |
| 30429220 | 2019 | MAPK- and glycogen synthase kinase 3-mediated phosphorylation regulates the DEAD-box protein modulator Gle1 for control of stress granule dynamics. | 14 |
| 28657126 | 2018 | A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss. | 3 |
Citation
Dessen P
GLE1 (GLE1 RNA export mediator)
Atlas Genet Cytogenet Oncol Haematol. 2016-05-01
Online version: http://atlasgeneticsoncology.org/gene/55781/gle1-(gle1-rna-export-mediator)
