EIF3H
Eukaryotic Translation Initiation Factor 3 Subunit H
Gene Information Card
| Symbol | EIF3H |
|---|---|
| Full Name | Eukaryotic Translation Initiation Factor 3 Subunit H |
| Gene Type | protein-coding |
| Chromosomal Location | 8q24.11 |
| NCBI Gene ID | 8667 ncbi.nlm.nih.gov/gene/8667 |
| Ensembl ID | ENSG00000147677 |
| UniProt ID | O15372 |
| OMIM ID | 603911 |
| HGNC ID | 3273 |
| Aliases | eIF3h, eIF3-p40, MGC10798 |
Description
EIF3H encodes a subunit of the eukaryotic translation initiation factor 3 (eIF3) complex, which is essential for cap-dependent translation initiation. The eIF3 complex binds to the 40S ribosomal subunit and facilitates mRNA recruitment. EIF3H is frequently amplified in various cancers and may promote oncogenic translation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Amplification of EIF3H leads to increased translation of oncogenic mRNAs, promoting cell proliferation | COSMIC, NCBI Gene |
| Prostate Cancer | EIF3H overexpression correlates with poor prognosis and may drive tumorigenesis via enhanced translation of cyclin D1 | NCBI Gene, PubMed |
| Colorectal Cancer | EIF3H amplification contributes to tumor growth by upregulating translation of key oncogenes | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 15.2 | Medium |
| Kidney | 10.8 | Medium |
| Testis | 18.3 | High |
| Lung | 11.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | Embryonic kidney cells |
| HeLa | 16.2 | Cervical cancer cells |
| MCF7 | 20.1 | Breast cancer cells |
| HepG2 | 13.8 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.1% | Unknown significance |
| c.100C>T | missense | <0.1% | Unknown significance |
| Amplification | copy number gain | ~5% in breast cancer | Increased expression |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in EIF3H.
Gain of Function (GOF)
Amplification and overexpression are associated with oncogenic gain-of-function.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • translation initiation factor activity | • RNA binding |
| • cytoplasmic translation | • eIF3 complex |
Pathways
• Eukaryotic Translation Initiation
• mTOR signaling pathway
• PI3K-Akt signaling pathway
Protein Summary
EIF3H is a 40 kDa subunit of the eIF3 complex. It contains a PCI domain and interacts with other eIF3 subunits and the 40S ribosome. The protein is essential for translation initiation and is implicated in cancer when overexpressed.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
