EIF4ENIF1: Eukaryotic Translation Initiation Factor 4E Nuclear Import Factor 1
A key regulator of mRNA nuclear export and translation initiation, implicated in reproductive and neurological disorders.
Gene Information Card
| Symbol | EIF4ENIF1 |
|---|---|
| Full Name | Eukaryotic Translation Initiation Factor 4E Nuclear Import Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q12.2 |
| NCBI Gene ID | 56478 ncbi.nlm.nih.gov/gene/56478 |
| Ensembl ID | ENSG00000100280 |
| UniProt ID | Q9H8H0 |
| OMIM ID | 607445 |
| HGNC ID | 32687 |
| Aliases | 4E-T, Clast4, FLJ12806 |
Description
EIF4ENIF1 encodes a nucleocytoplasmic shuttling protein that specifically binds the translation initiation factor eIF4E. It mediates the nuclear import of eIF4E and regulates the subcellular localization of eIF4E, thereby controlling mRNA export and translation. The protein is involved in the formation of P-bodies and plays a role in mRNA storage and decay. Mutations in EIF4ENIF1 are associated with premature ovarian failure and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Premature ovarian failure 11 (POF11) | Loss-of-function mutations impair eIF4E nuclear import, disrupting oocyte mRNA regulation and leading to ovarian dysfunction. | OMIM #618365; ClinVar |
| Neurodevelopmental disorder with language delay and behavioral abnormalities | Missense and truncating variants alter protein function, affecting neuronal mRNA transport and translation. | ClinVar; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | 12.5 | Medium |
| Testis | 10.8 | Medium |
| Brain (cortex) | 8.2 | Low-Medium |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| HEK293 | 13.7 | High expression |
| SH-SY5Y | 9.8 | Medium expression |
| K562 | 7.4 | Low-Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.164C>T (p.Pro55Leu) | Missense | Rare | Alters eIF4E binding affinity; associated with POF |
| c.497_498del (p.Glu166Glyfs*12) | Frameshift | Rare | Loss of function; truncation of C-terminal domain |
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Premature stop; loss of nuclear import function |
| c.1523G>A (p.Arg508Gln) | Missense | Rare | Impaired P-body localization; neurodevelopmental phenotype |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein lacking functional domains, disrupting eIF4E nuclear import and mRNA regulation.
Gain of Function (GOF)
Not described in literature.
Dominant Negative (DN)
Missense mutations (e.g., p.Pro55Leu) may interfere with wild-type protein function by sequestering eIF4E in aberrant complexes.
View complete mutation data：
Gene Ontology (GO)
| • nuclear import | • mRNA export from nucleus |
| • translation initiation factor activity | • protein binding |
| • cytoplasmic stress granule | • P-body |
Pathways
• mRNA surveillance pathway (Reactome: R-HSA-72163)
• Translation initiation (Reactome: R-HSA-72649)
• Regulation of mRNA stability by proteins that bind AU-rich elements
Protein Summary
EIF4ENIF1 (4E-T) is a 985-amino acid protein that contains an eIF4E-binding motif and a nuclear localization signal. It shuttles between nucleus and cytoplasm, importing eIF4E into the nucleus and regulating its availability for translation. The protein also localizes to processing bodies (P-bodies) where it participates in mRNA decapping and storage. Structural studies show that its N-terminal region mediates eIF4E interaction, while the C-terminal domain is required for P-body targeting.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EIF4ENIF1 Knockout HEK293 Cell Line | EDJ-KQ3549 | Human | 56478 | Details Get a Quote |
| EIF4ENIF1 Knockout A-549 Cell Line | EDJ-KQ25403 | Human | 56478 | Details Get a Quote |
| EIF4ENIF1 Knockout HCT 116 Cell Line | EDJ-KQ25404 | Human | 56478 | Details Get a Quote |
| EIF4ENIF1 Knockout HeLa Cell Line | EDJ-KQ25405 | Human | 56478 | Details Get a Quote |
| EIF4ENIF1 Knockout Huh-7 Cell Line | EDJ-KZ210 | Human | 56478 | Details Get a Quote |
