EEF1A1: Eukaryotic Translation Elongation Factor 1 Alpha 1
A core component of the protein synthesis machinery with emerging roles in cancer and neurodegeneration
Gene Information Card
| Symbol | EEF1A1 |
|---|---|
| Full Name | Eukaryotic Translation Elongation Factor 1 Alpha 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q14.1 |
| NCBI Gene ID | 1915 ncbi.nlm.nih.gov/gene/1915 |
| Ensembl ID | ENSG00000156508 |
| UniProt ID | P68104 |
| OMIM ID | 130590 |
| HGNC ID | 3189 |
| Aliases | EF1A, EF-1A, eEF1A-1, CCS-3, GRAF-1EF, LENG7, PTI1 |
Description
EEF1A1 encodes the alpha subunit of the eukaryotic translation elongation factor 1 complex, which delivers aminoacyl-tRNAs to the ribosome during protein synthesis. Beyond translation, EEF1A1 is involved in actin cytoskeleton organization, apoptosis, and viral replication. Mutations and altered expression of EEF1A1 have been implicated in various cancers, neurodegenerative disorders, and developmental syndromes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Overexpression promotes proliferation and metastasis via enhanced translation of oncogenic mRNAs | PMID: 25605247 |
| Breast cancer | EEF1A1 upregulation correlates with poor prognosis; knockdown reduces cell migration | PMID: 28407145 |
| Alzheimer disease | EEF1A1 interacts with tau and amyloid-beta; altered expression in affected brain regions | PMID: 21804562 |
| Spinocerebellar ataxia 26 (SCA26) | Missense mutations (e.g., p.Gly70Ser) impair translation fidelity and cause Purkinje cell degeneration | PMID: 22522455 |
| HIV-1 infection | EEF1A1 is incorporated into virions and required for viral protein synthesis | PMID: 12692295 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 78.5 | High |
| Heart | 62.3 | High |
| Liver | 55.1 | High |
| Kidney | 48.7 | Medium |
| Lung | 44.2 | Medium |
| Pancreas | 38.9 | Medium |
| Skeletal muscle | 72.4 | High |
| Testis | 81.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 85.3 | Cervical carcinoma; high expression |
| HEK293 | 79.6 | Embryonic kidney; high expression |
| K562 | 68.4 | Leukemia; medium-high expression |
| MCF7 | 72.1 | Breast cancer; high expression |
| A549 | 63.8 | Lung cancer; medium-high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Gly70Ser (c.208G>A) | Missense | Rare | Impaired translation fidelity; associated with SCA26 |
| p.Glu122Lys (c.364G>A) | Missense | Rare | Reduced GTPase activity; reported in developmental delay |
| p.Arg231His (c.692G>A) | Missense | Rare | Altered actin binding; found in cancer samples |
| p.Asp252Asn (c.754G>A) | Missense | Rare | Decreased protein stability; reported in neurodevelopmental disorder |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., p.Gly70Ser) reduce translation elongation efficiency and fidelity, leading to protein misfolding and cellular stress.
Gain of Function (GOF)
Gain-of-function mutations are not well characterized; overexpression in cancers may act as a proto-oncogene by enhancing translation of growth-promoting mRNAs.
Dominant Negative (DN)
Dominant-negative effects have been proposed for certain missense variants (e.g., p.Gly70Ser) that disrupt normal eEF1A function in translation and cytoskeletal dynamics.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Eukaryotic translation elongation (Reactome R-HSA-156842)
• Formation of a set of elongation factors (Reactome R-HSA-156902)
• GTP hydrolysis and joining of the 60S ribosomal subunit (Reactome R-HSA-156910)
• Viral mRNA translation (Reactome R-HSA-192823)
Protein Summary
EEF1A1 encodes a 462-amino acid protein (UniProt P68104) that binds GTP and aminoacyl-tRNA, delivering them to the A-site of the ribosome during translation elongation. The protein also interacts with actin filaments and microtubules, linking translation to cytoskeletal organization. Post-translational modifications include methylation, phosphorylation, and glutaminylation, which modulate its activity and localization. EEF1A1 is ubiquitously expressed but enriched in tissues with high protein synthesis demand.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EEF1A1 Knockout HEK293 Cell Line | EDJ-KQ50250 | Human | 1915 | Details Get a Quote |
| EEF1A1 Knockout HeLa Cell Line | EDJ-KQ53140 | Human | 1915 | Details Get a Quote |
| EEF1A1 Knockout A-549 Cell Line | EDJ-KQ61613 | Human | 1915 | Details Get a Quote |
| EEF1A1 Knockout HCT 116 Cell Line | EDJ-KQ70100 | Human | 1915 | Details Get a Quote |
