EFL1

Chr 15q25.2

elongation factor like GTPase 1

Aliases:: FLJ13119, FAM42A, HsT19294, RIA1
MANE:: ENST00000268206.12

OMIM: 617538 ↗NCBI: 79631 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

EFL1 · Q7Z2Z2

v62025-08-01

Predicted Aligned Error matrix for EFL1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.6/ 100

Confident

1,120 residues

Confidence breakdown

Very high(≥ 90)18%
Confident(70–90)53%
Low(50–70)15%
Very low(< 50)14%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Shwachman-Diamond syndrome 2
0.75
Shwachman-Diamond syndrome
0.57
hereditary disease
0.41
severe congenital neutropenia
0.37
intelligence
0.28
substance-related disorder
0.23
attention deficit-hyperactivity disorder
0.21
autism spectrum disorder
0.21
Alzheimer disease
0.17
diabetes mellitus
0.15

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

Protein function (UniProt)

Elongation factor-like GTPase 1

GTPase involved in the biogenesis of the 60S ribosomal subunit and translational activation of ribosomes. Together with SBDS, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export