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27 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EIF4A3
eukaryotic translation initiation factor 4A3
Chromosome 17 · 17q25.3
NCBI Gene: 9775Ensembl: ENSG00000141543.12HGNC: HGNC:18683UniProt: I3L3H2
317PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneTransporter
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mRNA bindingprotein bindingnuclear-transcribed mRNA catabolic process, nonsense-mediated decaymRNA splicing, via spliceosomeRichieri Costa-Pereira syndromedengue diseaseIntellectual disabilitycleft palate
✦AI Summary

EIF4A3 is an ATP-dependent RNA helicase that functions as a core component of the exon junction complex (EJC), a multiprotein assembly deposited at pre-mRNA splice sites 1. During pre-mRNA splicing, EIF4A3 binds spliced mRNAs 20-24 nucleotides upstream of exon-exon junctions in a sequence-independent manner, marking these junctions for downstream processing 12. The EJC remains associated with mature mRNAs throughout metabolism, influencing nuclear export, subcellular localization, translation efficiency, and nonsense-mediated decay (NMD) 13. EIF4A3's ATPase activity is dynamically regulated—induced by CASC3 but inhibited by the MAGOH-RBM8A heterodimer, which stabilizes the ATP-bound EJC on mRNA 1. Beyond canonical splicing, EIF4A3 regulates circular RNA (circRNA) biogenesis and function. It promotes circRNA cyclization and cytoplasmic export by binding back-spliced junction sites 456. EIF4A3 also facilitates cap-independent circRNA translation and participates in EJC-dependent mechanisms that regulate mRNA stability 78. Dysregulation of EIF4A3 associates with cancer chemoresistance, metastasis, and muscle atrophy through circRNA-dependent pathways 456. These pleiotropic functions underscore EIF4A3's central role in gene expression regulation and disease pathogenesis.

Sources cited
1
EIF4A3 is an ATP-dependent RNA helicase and core EJC component; binds mRNA 20-24 nt upstream of exon junctions; ATPase activity regulated by CASC3 and inhibited by MAGOH-RBM8A
PMID: 16170325
2
EIF4A3 is a core component of the exon junction complex
PMID: 16209946
3
EJC core components influence mRNA export, localization, translation, and NMD
PMID: 20479275
4
EIF4A3 binds back-spliced junction sites to induce circARHGAP29 cyclization and promotes its cytoplasmic export; circARHGAP29 drives docetaxel resistance in prostate cancer
PMID: 34965937
5
EIF4A3 mediates circSTX6 biogenesis; circSTX6 promotes bladder cancer metastasis and cisplatin resistance
PMID: 38163881
6
EIF4A3 regulates circDdb1 expression; circDdb1 encodes a protein that promotes muscle atrophy across multiple disease types
PMID: 39412095
7
EIF4A3 component of the exon junction complex facilitates cap-independent circRNA translation
PMID: 39660652
8
EIF4A3 recruits circRNA-sperm antigen with calponin homology to regulate mRNA stability and metabolic processes
PMID: 39647239
Disease Associationsⓘ21
Richieri Costa-Pereira syndromeOpen Targets
0.77Strong
dengue diseaseOpen Targets
0.46Moderate
Intellectual disabilityOpen Targets
0.37Weak
Cleft mandibleOpen Targets
0.37Weak
cleft palateOpen Targets
0.37Weak
clubfootOpen Targets
0.37Weak
microtiaOpen Targets
0.37Weak
Pierre-Robin sequenceOpen Targets
0.37Weak
Short statureOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.22Weak
genetic disorderOpen Targets
0.19Weak
breast cancerOpen Targets
0.11Weak
cancerOpen Targets
0.10Weak
hepatocellular carcinomaOpen Targets
0.10Weak
lung adenocarcinomaOpen Targets
0.10Suggestive
papillary thyroid carcinomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
posterior cortical atrophyOpen Targets
0.08Suggestive
Richieri-Costa-Pereira syndromeUniProt
Pathogenic Variants3
NM_014740.4(EIF4A3):c.-98_-81delinsTCGGCAGCGGCACAGCGAGG[13]Pathogenic
Richieri Costa-Pereira syndrome
☆☆☆☆2014
NM_014740.4(EIF4A3):c.-98_-81del18insTCGGCAGCGGCACAGCGAGG[10]Pathogenic
Richieri Costa-Pereira syndrome
☆☆☆☆2014
NM_014740.4(EIF4A3):c.809A>G (p.Asp270Gly)Pathogenic
Richieri Costa-Pereira syndrome
☆☆☆☆2014→ Residue 270
View on ClinVar ↗
Related Genes
RBM22Protein interaction100%CDC5LProtein interaction100%PRPF19Protein interaction100%CDC40Protein interaction100%EFTUD2Protein interaction100%PRPF8Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
59%
Lung
52%
Brain
50%
Liver
34%
Heart
31%
Gene Interaction Network
Click a node to explore
EIF4A3RBM22CDC5LPRPF19CDC40EFTUD2PRPF8
PROTEIN STRUCTURE
Preparing viewer…
PDB4C9B · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.08Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.02 [0.01–0.08]
RankingsWhere EIF4A3 stands among ~20K protein-coding genes
  • #1,062of 20,598
    Most Researched317 · top 10%
  • #3,911of 5,498
    Most Pathogenic Variants3
  • #31of 17,882
    Most Constrained (LOEUF)0.08 · top 1%
Genes detectedEIF4A3
Sources retrieved27 papers
Response time—
📄 Sources
27▼
1
Macrophage metabolic reprogramming ameliorates diabetes-induced microvascular dysfunction.
PMID: 39647239
Redox Biol · 2025
1.00
2
Translation of circular RNAs.
PMID: 39660652
Nucleic Acids Res · 2025
0.90
3
Circular RNAs trigger nonsense-mediated mRNA decay.
PMID: 39667933
Mol Cell · 2024
0.80
4
Exosome-derived circCCAR1 promotes CD8 + T-cell dysfunction and anti-PD1 resistance in hepatocellular carcinoma.
PMID: 36932387
Mol Cancer · 2023
0.70
5
EIF4A3 Promotes Muscle Atrophy and Aging by Inhibiting the FAK Pathway Through NEDD9 mRNA Destabilization.
PMID: 40641186
J Cachexia Sarcopenia Muscle · 2025
0.68