EIF4A1: Eukaryotic Translation Initiation Factor 4A1
A key RNA helicase in cap-dependent translation initiation, implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | EIF4A1 |
|---|---|
| Full Name | Eukaryotic Translation Initiation Factor 4A1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 1973 ncbi.nlm.nih.gov/gene/1973 |
| Ensembl ID | ENSG00000161960 |
| UniProt ID | P60842 |
| OMIM ID | 602641 |
| HGNC ID | 3282 |
| Aliases | DDX2A, eIF-4A, eIF4A, eIF-4A-I |
Description
EIF4A1 encodes a member of the DEAD-box family of RNA helicases. It is a core component of the eukaryotic translation initiation factor 4F (eIF4F) complex, which unwinds secondary structures in the 5' untranslated region of mRNAs to facilitate ribosome binding and cap-dependent translation initiation. EIF4A1 is essential for cell growth and proliferation, and its dysregulation is linked to various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression or increased activity of EIF4A1 promotes translation of oncogenic mRNAs (e.g., MYC, CCND1), driving cell proliferation and survival. | COSMIC, ClinVar, literature |
| Developmental delay / Intellectual disability | De novo missense variants in EIF4A1 have been reported in patients with neurodevelopmental phenotypes, likely due to impaired translation of key neuronal mRNAs. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 34.2 | High |
| Lymph node | 28.1 | High |
| Bone marrow | 26.5 | High |
| Brain | 15.3 | Medium |
| Liver | 12.8 | Medium |
| Heart | 10.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical carcinoma) | 35.0 | High expression |
| K562 (leukemia) | 30.2 | High expression |
| HEK293 (embryonic kidney) | 28.5 | High expression |
| HepG2 (hepatocellular carcinoma) | 22.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.113G>A (p.Arg38Gln) | Missense | <0.01% | Reduced helicase activity; associated with developmental delay (ClinVar) |
| c.1012C>T (p.Arg338Trp) | Missense | <0.01% | Impaired eIF4F complex assembly; reported in neurodevelopmental disorder (ClinVar) |
| Amplification | Copy number gain | Variable | Frequent in breast, lung, and ovarian cancers; associated with poor prognosis (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg38Gln) reduce RNA helicase activity, impairing translation initiation and leading to neurodevelopmental phenotypes.
Gain of Function (GOF)
Gene amplification or overexpression increases translation of oncogenic mRNAs, promoting tumorigenesis.
Dominant Negative (DN)
Not well documented; some missense variants may act in a dominant-negative manner by disrupting eIF4F complex function.
View complete mutation data：
Gene Ontology (GO)
| • ATP-dependent RNA helicase activity (GO:0004004) | • Translation initiation factor activity (GO:0003743) |
| • RNA binding (GO:0003723) | • Cytoplasm (GO:0005737) |
| • Eukaryotic translation initiation factor 4F complex (GO:0016281) | • Regulation of translation initiation (GO:0006446) |
Pathways
• Cap-dependent translation initiation (Reactome: R-HSA-72737)
• mTOR signaling (KEGG: hsa04150)
• PI3K-Akt signaling (KEGG: hsa04151)
• Regulation of eIF4F activity (Reactome: R-HSA-72689)
Protein Summary
EIF4A1 (eukaryotic translation initiation factor 4A1) is a 46 kDa DEAD-box RNA helicase that unwinds RNA secondary structures in an ATP-dependent manner. It forms the eIF4F complex together with eIF4E (cap-binding) and eIF4G (scaffold). EIF4A1 is essential for the recruitment of the 40S ribosomal subunit to mRNA. Its activity is regulated by phosphorylation and by binding partners such as eIF4B and eIF4H. Overexpression is oncogenic, while loss-of-function mutations cause neurodevelopmental disorders.
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