GLE1 (GLE1 RNA export mediator)

2016-05-01  

Identity

HGNC
GLE1
LOCATION
9q34.11
LOCUSID
2733
ALIAS
CAAHC,CAAHD,GLE1L,LCCS,LCCS1,hGLE1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2733
MIM: 603371
HGNC: 4315
Ensembl: ENSG00000119392

Variants:

dbSNP: 2733
ClinVar: 2733
TCGA: ENSG00000119392
COSMIC: GLE1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119392ENST00000309971Q53GS7
ENSG00000119392ENST00000372770Q53GS7

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
378019102023Phosphorylation impacts GLE1 nuclear localization and association with DDX1.0
378019102023Phosphorylation impacts GLE1 nuclear localization and association with DDX1.0
325379342020Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.1
327554352020Nucleocytoplasmic shuttling of Gle1 impacts DDX1 at transcription termination sites.2
329545102020Biallelic variants in GLE1 with survival beyond neonatal period.1
329818942020Functions of Gle1 are governed by two distinct modes of self-association.4
325379342020Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.1
327554352020Nucleocytoplasmic shuttling of Gle1 impacts DDX1 at transcription termination sites.2
329545102020Biallelic variants in GLE1 with survival beyond neonatal period.1
329818942020Functions of Gle1 are governed by two distinct modes of self-association.4
302622142019Gle1 mediates stress granule-dependent survival during chemotoxic stress.7
304292202019MAPK- and glycogen synthase kinase 3-mediated phosphorylation regulates the DEAD-box protein modulator Gle1 for control of stress granule dynamics.14
302622142019Gle1 mediates stress granule-dependent survival during chemotoxic stress.7
304292202019MAPK- and glycogen synthase kinase 3-mediated phosphorylation regulates the DEAD-box protein modulator Gle1 for control of stress granule dynamics.14
286571262018A 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/cancer-prone-explorer/img/js/lib/hgnc