EIF1AX (Eukaryotic Translation Initiation Factor 1A X-Linked)
A key translation initiation factor with dual roles in cancer and neurodevelopmental disorders
Gene Information Card
| Symbol | EIF1AX |
|---|---|
| Full Name | Eukaryotic Translation Initiation Factor 1A X-Linked |
| Gene Type | protein-coding |
| Chromosomal Location | Xp22.12 |
| NCBI Gene ID | 1964 ncbi.nlm.nih.gov/gene/1964 |
| Ensembl ID | ENSG00000161981 |
| UniProt ID | P47813 |
| OMIM ID | 300186 |
| HGNC ID | 3256 |
| Aliases | EIF1A, eIF-1A, eIF-4C, EIF4C, MRT46 |
Description
EIF1AX encodes the X-linked isoform of eukaryotic translation initiation factor 1A (eIF1A), a small protein essential for the assembly of the 43S pre-initiation complex. It promotes the scanning of mRNA and the recognition of the start codon, thereby regulating translation initiation. EIF1AX is ubiquitously expressed and has been implicated in various cancers (e.g., uveal melanoma, thyroid carcinoma) and in neurodevelopmental disorders such as intellectual disability and autism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Uveal melanoma | Recurrent somatic mutations (e.g., p.Gly9Asp) are oncogenic, likely affecting translation fidelity and promoting tumorigenesis. | COSMIC; PMID: 27895058 |
| Papillary thyroid carcinoma | Somatic mutations in EIF1AX are found in a subset of tumors, often coexisting with RAS or BRAF mutations, suggesting a role in tumor progression. | COSMIC; PMID: 27997331 |
| Intellectual disability (MRT46) | Germline mutations (e.g., p.Met1? or splice-site) cause loss of function, leading to autosomal recessive intellectual disability. | OMIM 300186; PMID: 26216346 |
| Autism spectrum disorder | De novo missense variants have been identified in patients, suggesting a potential role in neurodevelopmental pathogenesis. | ClinVar; PMID: 31600784 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Testis | 8.7 | Medium |
| Kidney | 7.9 | Medium |
| Liver | 6.5 | Low |
| Heart | 5.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| A549 | 12.8 | Moderate |
| MCF7 | 10.5 | Moderate |
| K562 | 8.9 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Gly9Asp | Missense | ~5% in uveal melanoma | Gain-of-function; promotes tumorigenesis |
| p.Met1? | Start-loss | Rare in intellectual disability | Loss-of-function; reduced protein expression |
| c.161-2A>G | Splice-site | Rare in intellectual disability | Loss-of-function; aberrant splicing |
| p.Arg16His | Missense | Somatic in thyroid cancer | Likely gain-of-function; oncogenic |
Mutation functional classification
Loss of Function (LOF)
Germline loss-of-function mutations (e.g., start-loss, splice-site) cause reduced eIF1A activity, leading to impaired translation initiation and neurodevelopmental phenotypes.
Gain of Function (GOF)
Somatic missense mutations (e.g., p.Gly9Asp) in cancer are considered gain-of-function, altering translation fidelity and promoting cell proliferation.
Dominant Negative (DN)
Not clearly established; some somatic mutations may act in a dominant-negative manner, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • translation initiation factor activity | • RNA binding |
| • ribosome binding | • cytoplasm |
| • cytosol | • eukaryotic 43S preinitiation complex |
| • regulation of translational initiation |
Pathways
• Eukaryotic translation initiation
• Cap-dependent translation initiation
• mTOR signaling (indirect)
• Nonsense-mediated decay (indirect)
Protein Summary
EIF1AX encodes a 144-amino acid protein (17 kDa) that binds to the 40S ribosomal subunit and facilitates mRNA scanning and start codon selection. It interacts with eIF2, eIF3, and eIF5, and its N-terminal tail is critical for scanning. The protein is highly conserved and ubiquitously expressed. Structural studies show an oligonucleotide/oligosaccharide-binding (OB) fold. Mutations in the N-terminal region are common in cancer, while loss-of-function mutations cause neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EIF1AX Knockout HEK293 Cell Line | EDJ-KQ50253 | Human | 1964 | Details Get a Quote |
| EIF1AX Knockout HeLa Cell Line | EDJ-KQ53149 | Human | 1964 | Details Get a Quote |
| EIF1AX Knockout A-549 Cell Line | EDJ-KQ61622 | Human | 1964 | Details Get a Quote |
| EIF1AX Knockout HCT 116 Cell Line | EDJ-KQ70108 | Human | 1964 | Details Get a Quote |
