GLE1

Chr 9q34.11

GLE1 RNA export mediator

Aliases:: hGLE1
MANE:: ENST00000309971.9

OMIM: 603371 ↗NCBI: 2733 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

GLE1 · Q53GS7

v62025-08-01

Predicted Aligned Error matrix for GLE1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.9/ 100

Confident

698 residues

Confidence breakdown

Very high(≥ 90)47%
Confident(70–90)28%
Low(50–70)9%
Very low(< 50)16%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

lethal arthrogryposis-anterior horn cell disease syndrome
0.74
lethal congenital contracture syndrome 1
0.70
Lethal arthrogryposis - anterior horn cell disease
0.64
Lethal congenital contracture syndrome type 1
0.46
amyotrophic lateral sclerosis
0.41
hereditary disease
0.34
neurodegenerative disease
0.32
rheumatic disorder
0.23
nephritis
0.16
congenital rubella syndrome
0.03

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

mRNA export factor GLE1

Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. May be involved in the terminal step of the mRNA transport through the nuclear pore complex (NPC)