EIF4H
Eukaryotic Translation Initiation Factor 4H
Gene Information Card
| Symbol | EIF4H |
|---|---|
| Full Name | Eukaryotic Translation Initiation Factor 4H |
| Gene Type | Protein coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 7458 ncbi.nlm.nih.gov/gene/7458 |
| Ensembl ID | ENSG00000106682 |
| UniProt ID | Q15056 |
| OMIM ID | 603431 |
| HGNC ID | 3290 |
| Aliases | WBSCR1, WSCR1, eIF-4H |
Description
EIF4H encodes a member of the eukaryotic translation initiation factor 4 family. The protein stimulates the RNA-dependent ATPase and helicase activities of eIF4A and eIF4B, facilitating mRNA cap recognition and ribosome recruitment. It is involved in the regulation of protein synthesis and is implicated in Williams-Beuren syndrome due to its location in the 7q11.23 deletion region.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Williams-Beuren syndrome | Haploinsufficiency due to heterozygous deletion of 7q11.23 including EIF4H | OMIM #194050 |
| Colorectal cancer | Overexpression may enhance translation of oncogenic mRNAs | COSMIC, PubMed studies |
| Hepatocellular carcinoma | Upregulation associated with poor prognosis | PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.7 | Low |
| Kidney | 9.1 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.0 | Embryonic kidney |
| HeLa | 11.5 | Cervical carcinoma |
| HepG2 | 9.8 | Hepatocellular carcinoma |
| K562 | 7.2 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.287C>T (p.Pro96Leu) | Missense | <0.01% | Unknown significance |
| Whole gene deletion | Copy number loss | Rare in general population | Haploinsufficiency in Williams-Beuren syndrome |
Mutation functional classification
Loss of Function (LOF)
Haploinsufficiency due to deletion or start-loss mutations reduces translation initiation efficiency.
Gain of Function (GOF)
Overexpression in cancers may enhance translation of oncogenes.
Dominant Negative (DN)
Not reported for EIF4H.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • Translation initiation factor activity |
| • mRNA binding | • Cytoplasm |
| • Eukaryotic translation initiation factor 4F complex |
Pathways
• Eukaryotic translation initiation (Reactome R-HSA-72649)
• Cap-dependent translation initiation (Reactome R-HSA-72737)
• mTOR signaling (KEGG hsa04150)
Protein Summary
EIF4H is a 248-amino acid protein that contains a single RNA recognition motif (RRM). It binds to the 5' cap of mRNA and enhances the helicase activity of eIF4A, promoting scanning and start codon recognition. The protein is widely expressed, with highest levels in testis and brain. Its role in translation control links it to both neurodevelopmental disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EIF4H Knockout HEK293 Cell Line | EDJ-KQ50709 | Human | 7458 | Details Get a Quote |
| EIF4H Knockout HeLa Cell Line | EDJ-KQ54746 | Human | 7458 | Details Get a Quote |
| EIF4H Knockout A-549 Cell Line | EDJ-KQ63240 | Human | 7458 | Details Get a Quote |
| EIF4H Knockout HCT 116 Cell Line | EDJ-KQ71705 | Human | 7458 | Details Get a Quote |
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