EIF3E
Eukaryotic Translation Initiation Factor 3 Subunit E
Gene Information Card
| Symbol | EIF3E |
|---|---|
| Full Name | Eukaryotic Translation Initiation Factor 3 Subunit E |
| Gene Type | protein-coding |
| Chromosomal Location | 8q23.1 |
| NCBI Gene ID | 3646 ncbi.nlm.nih.gov/gene/3646 |
| Ensembl ID | ENSG00000104408 |
| UniProt ID | P60228 |
| OMIM ID | 602210 |
| HGNC ID | 3277 |
| Aliases | EIF3S6, INT6, p48 |
Description
EIF3E encodes a subunit of the eukaryotic translation initiation factor 3 (eIF3) complex, which is essential for the initiation of protein synthesis. The eIF3 complex binds to the 40S ribosomal subunit and promotes the formation of the 43S pre-initiation complex. EIF3E is also known as INT6 due to its integration site for mouse mammary tumor virus (MMTV) in certain breast cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Integration of MMTV into the EIF3E locus disrupts its expression, contributing to tumorigenesis. | OMIM 602210; COSMIC |
| Hepatocellular Carcinoma | Altered EIF3E expression levels are associated with liver cancer progression. | NCBI Gene; COSMIC |
| Colorectal Cancer | EIF3E mutations and copy number alterations are observed in colorectal tumors. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 8.2 | Medium |
| Brain | 6.5 | Low |
| Liver | 10.1 | Medium |
| Lung | 7.8 | Medium |
| Breast | 9.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.4 | High expression |
| HeLa | 11.2 | High expression |
| HepG2 | 9.8 | Medium expression |
| MCF7 | 10.5 | Medium expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.1% | Unknown functional impact |
| c.100C>T | nonsense | <0.1% | Predicted loss of function |
| c.200_201insA | frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data:
Gene Ontology (GO)
| • translation initiation factor activity (GO:0003743) | • RNA binding (GO:0003723) |
| • cytoplasmic translation (GO:0002181) | • eIF3 complex (GO:0005852) |
Pathways
• Eukaryotic Translation Initiation (Reactome R-HSA-72649)
• Cap-dependent Translation Initiation (Reactome R-HSA-72737)
Protein Summary
EIF3E is a 48 kDa protein that forms part of the eIF3 complex. It contains a PCI domain (Proteasome, COP9, Initiation factor 3) and is involved in binding the 40S ribosomal subunit. The protein is ubiquitously expressed and plays a critical role in translation initiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EIF3E Knockout HEK293 Cell Line | EDJ-KQ50396 | Human | 3646 | Details Get a Quote |
| EIF3E Knockout HeLa Cell Line | EDJ-KQ53670 | Human | 3646 | Details Get a Quote |
| EIF3E Knockout A-549 Cell Line | EDJ-KQ62144 | Human | 3646 | Details Get a Quote |
| EIF3E Knockout HCT 116 Cell Line | EDJ-KQ70635 | Human | 3646 | Details Get a Quote |