EIF4EBP1: Eukaryotic Translation Initiation Factor 4E Binding Protein 1
Key regulator of cap-dependent translation, frequently dysregulated in cancer and metabolic disorders
Gene Information Card
| Symbol | EIF4EBP1 |
|---|---|
| Full Name | eukaryotic translation initiation factor 4E binding protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p11.23 |
| NCBI Gene ID | 1978 ncbi.nlm.nih.gov/gene/1978 |
| Ensembl ID | ENSG00000187840 |
| UniProt ID | Q13541 |
| OMIM ID | 602223 |
| HGNC ID | 3288 |
| Aliases | 4E-BP1, PHAS-I, BP-1 |
Description
EIF4EBP1 encodes a member of the eukaryotic translation initiation factor 4E (eIF4E) binding protein family. The encoded protein binds to eIF4E and inhibits cap-dependent translation. Phosphorylation by mTOR signaling releases eIF4E, allowing translation initiation. This gene is involved in cell growth, proliferation, and survival, and its dysregulation is implicated in various cancers and metabolic diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression or hypophosphorylation leads to increased eIF4E sequestration, altering translation of oncogenic mRNAs | COSMIC, ClinVar |
| Metabolic syndrome | Altered mTOR/4E-BP1 signaling affects insulin sensitivity and lipid metabolism | OMIM, NCBI |
| Neurodegenerative disorders | Dysregulated translation contributes to synaptic dysfunction | NCBI, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Lung | 7.8 | Low |
| Pancreas | 6.4 | Low |
| Spleen | 9.0 | Low |
| Testis | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line |
| HEK293 | 11.5 | Embryonic kidney cells |
| MCF7 | 9.8 | Breast cancer cell line |
| A549 | 8.1 | Lung cancer cell line |
| K562 | 7.3 | Leukemia cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | 0.02% | p.Met1?; start codon loss, likely loss of function |
| c.179C>T | missense | 0.01% | p.Pro60Leu; altered binding to eIF4E |
| c.310G>A | missense | 0.03% | p.Gly104Ser; reduced phosphorylation efficiency |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt eIF4E binding or reduce protein stability impair translational repression.
Gain of Function (GOF)
Not well characterized; some mutations may enhance phosphorylation resistance, leading to constitutive eIF4E release.
Dominant Negative (DN)
Mutant forms that sequester eIF4E but fail to release it properly can inhibit normal function.
View complete mutation data:
Gene Ontology (GO)
| • GO:0003743 - translation initiation factor activity | • GO:0005515 - protein binding |
| • GO:0006417 - regulation of translation | • GO:0017148 - negative regulation of translation |
| • GO:0032869 - cellular response to insulin stimulus | • GO:0046777 - protein autophosphorylation |
Pathways
• hsa04150 - mTOR signaling pathway
• hsa04151 - PI3K-Akt signaling pathway
• hsa05200 - Pathways in cancer
• hsa04910 - Insulin signaling pathway
Protein Summary
4E-BP1 is a small (118 amino acids) intrinsically disordered protein that binds to eIF4E via a conserved YXXXXLΦ motif. Hypophosphorylated 4E-BP1 binds eIF4E with high affinity, blocking assembly of the eIF4F complex and inhibiting cap-dependent translation. Hyperphosphorylation by mTORC1 (at Thr37, Thr46, Ser65, Thr70) causes dissociation, allowing translation of mRNAs with complex 5' UTRs, including many oncogenes (e.g., MYC, CCND1, VEGF). 4E-BP1 also interacts with other partners such as PRMT1 and is subject to ubiquitination and acetylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EIF4EBP1 Knockout HEK293 Cell Line | EDJ-KQ1177 | Human | 1978 | Details Get a Quote |
| EIF4EBP1 Knockout A-549 Cell Line | EDJ-KQ20448 | Human | 1978 | Details Get a Quote |
| EIF4EBP1 Knockout HCT 116 Cell Line | EDJ-KQ20449 | Human | 1978 | Details Get a Quote |
| EIF4EBP1 Knockout HeLa Cell Line | EDJ-KQ20450 | Human | 1978 | Details Get a Quote |
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