EIF4A3
Eukaryotic Translation Initiation Factor 4A3
Gene Information Card
| Symbol | EIF4A3 |
|---|---|
| Full Name | Eukaryotic Translation Initiation Factor 4A3 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 9775 ncbi.nlm.nih.gov/gene/9775 |
| Ensembl ID | ENSG00000141543 |
| UniProt ID | P38919 |
| OMIM ID | 608546 |
| HGNC ID | 18683 |
| Aliases | DDX48, NUK34, eIF4AIII |
Description
EIF4A3 encodes a member of the DEAD-box family of RNA helicases. It is a core component of the exon junction complex (EJC) and plays a critical role in pre-mRNA splicing, nonsense-mediated decay (NMD), and translation initiation. The protein exhibits ATP-dependent RNA helicase activity and is essential for embryonic development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Richieri-Costa-Pereira syndrome | Loss-of-function mutations in EIF4A3 impair EJC assembly, leading to craniofacial and limb defects. | PMID: 25220020; OMIM #268305 |
| Breast cancer | Overexpression of EIF4A3 promotes proliferation and metastasis via enhanced translation of oncogenic mRNAs. | PMID: 30737409 |
| Hepatocellular carcinoma | Upregulation of EIF4A3 correlates with poor prognosis and increased cell migration. | PMID: 31570779 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 32.5 | High |
| Brain | 18.2 | Medium |
| Heart | 15.8 | Medium |
| Liver | 12.1 | Medium |
| Lung | 10.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 28.3 | Cervical cancer cell line |
| HEK293 | 22.1 | Embryonic kidney cell line |
| MCF7 | 19.7 | Breast cancer cell line |
| HepG2 | 17.5 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.127C>T (p.Arg43*) | Nonsense | <0.01% | Loss of function; associated with Richieri-Costa-Pereira syndrome |
| c.613G>A (p.Gly205Arg) | Missense | <0.01% | Impaired helicase activity; reduced EJC assembly |
| c.1024A>G (p.Thr342Ala) | Missense | <0.01% | Altered RNA binding affinity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that disrupt helicase activity or EJC assembly lead to haploinsufficiency, causing developmental disorders.
Gain of Function (GOF)
Not well characterized; overexpression in cancers suggests potential oncogenic gain-of-function via enhanced translation.
Dominant Negative (DN)
Some missense variants may act dominant-negatively by sequestering EJC components.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • RNA helicase activity |
| • mRNA binding | • pre-mRNA splicing |
| • nonsense-mediated decay | • exon junction complex |
Pathways
• mRNA Splicing - Major Pathway
• Nonsense-Mediated Decay (NMD)
• EJC Assembly and Function
Protein Summary
EIF4A3 (eIF4AIII) is a 411-amino acid DEAD-box RNA helicase that forms the core of the exon junction complex. It binds ATP and RNA, unwinds RNA duplexes, and is essential for splicing, NMD, and translation. The protein is highly conserved and ubiquitously expressed, with highest levels in testis and brain.
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