EEF1D

Chr 8q24.3

eukaryotic translation elongation factor 1 delta

Aliases:: EF-1D, FLJ20897
MANE:: ENST00000618139.4

OMIM: 130592 ↗NCBI: 1936 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

EEF1D · P29692

v62025-08-01

Predicted Aligned Error matrix for EEF1D — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.0/ 100

Confident

281 residues

Confidence breakdown

Very high(≥ 90)20%
Confident(70–90)41%
Low(50–70)23%
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)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language
0.62
autosomal recessive non-syndromic intellectual disability
0.33
neurodevelopmental disorder
0.30
myelodysplastic syndrome associated with isolated del(5q)
0.27
Moyamoya disease
0.26
hereditary disease
0.15
frozen shoulder
0.09
glioma
0.08
central nervous system cancer
0.08
osteosarcoma
0.08

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

Protein function (UniProt)

Elongation factor 1-delta

EF-1-beta and EF-1-delta stimulate the exchange of GDP bound to EF-1-alpha to GTP, regenerating EF-1-alpha for another round of transfer of aminoacyl-tRNAs to the ribosome