EIF3B

Eukaryotic Translation Initiation Factor 3 Subunit B

Gene Information Card

Symbol EIF3B
Full Name Eukaryotic Translation Initiation Factor 3 Subunit B
Gene Type protein-coding
Chromosomal Location 7p22.3
NCBI Gene ID 8669 ncbi.nlm.nih.gov/gene/8669
Ensembl ID ENSG00000106211
UniProt ID P55884
OMIM ID 603917
HGNC ID 3270
Aliases EIF3S9, PRT1, eIF3-p116, eIF3-eta

Description

EIF3B 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. EIF3B is involved in mRNA recruitment, scanning, and start codon selection. Dysregulation of EIF3B has been implicated in various cancers and developmental disorders.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Breast cancer Overexpression of EIF3B enhances translation of oncogenic mRNAs, promoting cell proliferation and tumor growth. PMID: 23555292
Hepatocellular carcinoma Upregulation of EIF3B correlates with poor prognosis and increased tumor invasion. PMID: 25634884
Colorectal cancer EIF3B overexpression drives translation of cyclin D1 and c-Myc, contributing to tumorigenesis. PMID: 26921324

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 34.2 High
Lymph node 22.1 Medium
Brain 18.5 Medium
Liver 12.3 Low
Heart 9.8 Low
Cell Line Expression
Cell Line nTPM Notes
HEK293 28.5 High expression
HeLa 25.1 High expression
MCF7 20.3 Medium expression
HepG2 18.7 Medium expression
A549 15.2 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234G>A (p.Gly412Arg) Missense 0.01% (gnomAD) Unknown functional impact
c.567_569del (p.Lys189del) In-frame deletion 0.001% (COSMIC) Potential loss of eIF3 complex stability
c.2101C>T (p.Arg701Trp) Missense 0.005% (ClinVar) Reported in breast cancer; uncertain significance
Mutation functional classification

Loss of Function (LOF)

Rare truncating mutations (e.g., frameshift or nonsense) are predicted to impair eIF3 complex assembly and translation initiation, potentially leading to reduced cell growth.

Gain of Function (GOF)

Amplification or overexpression of EIF3B is observed in multiple cancers, leading to enhanced translation of pro-proliferative mRNAs.

Dominant Negative (DN)

No well-characterized dominant-negative mutations have been reported for EIF3B.

Pathways

• hsa03013 - RNA transport
• hsa04141 - Protein processing in endoplasmic reticulum
• hsa05200 - Pathways in cancer

Protein Summary

EIF3B is a 116 kDa protein that serves as a core scaffold of the eIF3 complex. It contains multiple WD40 repeats that mediate protein-protein interactions within the complex. The protein is essential for the recruitment of the 43S pre-initiation complex to mRNA and for scanning the 5' UTR to locate the start codon. Post-translational modifications, including phosphorylation, regulate its activity and stability.

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