EEF1E1

Chr 6

eukaryotic translation elongation factor 1 epsilon 1

Also known as: AIMP3, P18

NCBI Gene: 9521ENSG00000124802UniProt: O43324

This gene encodes a multifunctional protein that localizes to both the cytoplasm and nucleus. In the cytoplasm, the encoded protein is an auxiliary component of the macromolecular aminoacyl-tRNA synthase complex. However, its mouse homolog has been shown to translocate to the nucleus in response to DNA damage, and it plays a positive role in ATM/ATR-mediated p53 activation. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream MUTED (muted homolog) gene. An EEF1E1-related pseudogene has been identified on chromosome 2. [provided by RefSeq, Dec 2010]

46
ClinVar variants
30
Pathogenic / LP
0.08
pLI score
0
Active trials
Clinical Summary— EEF1E1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.08) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
30 Pathogenic / Likely Pathogenic· 15 VUS of 46 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.92LOEUF
pLI 0.083
Z-score 1.74
OE 0.35 (0.16–0.92)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.52Z-score
OE missense 0.85 (0.70–1.02)
76 obs / 89.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.35 (0.16–0.92)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.85 (0.70–1.02)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.06
0≤1.21.6
LoF obs/exp: 3 / 8.5Missense obs/exp: 76 / 89.9Syn Z: -0.29

ClinVar Variant Classifications

46 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic27
Likely Pathogenic3
VUS15
Likely Benign1
27
Pathogenic
3
Likely Pathogenic
15
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
27
0
27
Likely Pathogenic
0
0
3
0
3
VUS
0
15
0
0
15
Likely Benign
0
1
0
0
1
Benign
0
0
0
0
0
Total01630046

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

EEF1E1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Whole exome sequencing and polygenic risk assessment for kidney functions and clinical management in both hospital-based cohort and population-based Asian cohorts.
Lin MR et al.·J Biomed Sci
2025Cohort
HULC: an oncogenic long non-coding RNA in human cancer.
Yu X et al.·J Cell Mol Med
2017Review
Diagnostic and prognostic biomarkers associated with histotype in advanced epithelial ovarian cancer.
Ittner E et al.·Sci Rep
2025
Machine Learning-based Gene Biomarker Identification for Improving Prognosis and Therapy in Hepatocellular Carcinoma.
Deng L et al.·Curr Med Chem
2025
EEF1E1 promotes glioma proliferation by regulating cell cycle through PTEN/AKT signaling pathway.
Wang H et al.·Mol Carcinog
2023
Identification of two novel BRCA1-partner genes in the DNA double-strand break repair pathway.
Guglielmi C et al.·Breast Cancer Res Treat
2013
Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature.
Tassano E et al.·J Genet
2021Review
Identification of CD8(+) T-cell exhaustion signatures for prognosis in HBV-related hepatocellular carcinoma patients by integrated analysis of single-cell and bulk RNA-sequencing.
Li J et al.·BMC Cancer
2024Cohort
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools