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.

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 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
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