EEF1E1: Eukaryotic Translation Elongation Factor 1 Epsilon 1
A multifunctional protein involved in protein synthesis, apoptosis, and tumor suppression.
Gene Information Card
| Symbol | EEF1E1 |
|---|---|
| Full Name | Eukaryotic Translation Elongation Factor 1 Epsilon 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p24.3 |
| NCBI Gene ID | 9521 ncbi.nlm.nih.gov/gene/9521 |
| Ensembl ID | ENSG00000124813 |
| UniProt ID | O43324 |
| OMIM ID | 609541 |
| HGNC ID | 3213 |
| Aliases | AIMP3, p18, EEF1E1 |
Description
EEF1E1 encodes a multifunctional protein that acts as a scaffold component of the aminoacyl-tRNA synthetase complex and as a translational elongation factor. It also functions as a tumor suppressor by modulating p53 activity and apoptosis. The protein is involved in DNA damage response and cellular stress signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Loss of EEF1E1 leads to impaired p53 activation and increased genomic instability, promoting tumorigenesis. | PMID: 19202068, PMID: 21145499 |
| Neurodevelopmental disorder | Homozygous missense variants in EEF1E1 cause intellectual disability, microcephaly, and seizures. | PMID: 28965846 |
| Autoimmune disease | EEF1E1 is a target of autoantibodies in some autoimmune conditions. | PMID: 15689499 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.5 | Medium |
| Heart | 8.3 | Medium |
| Liver | 6.1 | Low |
| Kidney | 7.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.3 | Cervical cancer cell line |
| HEK293 | 11.8 | Embryonic kidney cell line |
| K562 | 9.5 | Leukemia cell line |
| A549 | 8.7 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.238C>T (p.Arg80Cys) | Missense | <0.01% | Associated with neurodevelopmental disorder |
| c.364G>A (p.Gly122Ser) | Missense | <0.01% | Reduced p53 activation |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the start codon or cause premature truncation lead to loss of EEF1E1 protein, impairing p53-mediated apoptosis and increasing cancer risk.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported.
Dominant Negative (DN)
Some missense variants (e.g., p.Arg80Cys) may exert dominant-negative effects by interfering with the aminoacyl-tRNA synthetase complex.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Aminoacyl-tRNA biosynthesis (Reactome: R-HSA-379716)
• Translation (Reactome: R-HSA-72766)
• p53 signaling pathway (KEGG: hsa04115)
Protein Summary
EEF1E1 (also known as AIMP3 or p18) is a 174-amino-acid protein that serves as a scaffold within the multi-tRNA synthetase complex. It directly interacts with p53, enhancing its transcriptional activity and promoting apoptosis in response to DNA damage. The protein is ubiquitously expressed, with highest levels in testis and brain. Loss of EEF1E1 function is associated with increased cancer susceptibility and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EEF1E1 Knockout HEK293 Cell Line | EDJ-KQ2553 | Human | 9521 | Details Get a Quote |
| EEF1E1 Knockout A-549 Cell Line | EDJ-KQ23202 | Human | 9521 | Details Get a Quote |
| EEF1E1 Knockout HCT 116 Cell Line | EDJ-KQ23203 | Human | 9521 | Details Get a Quote |
| EEF1E1 Knockout HeLa Cell Line | EDJ-KQ23204 | Human | 9521 | Details Get a Quote |
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