EIF3L
Eukaryotic Translation Initiation Factor 3 Subunit L
Gene Information Card
| Symbol | EIF3L |
|---|---|
| Full Name | eukaryotic translation initiation factor 3 subunit L |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 51386 ncbi.nlm.nih.gov/gene/51386 |
| Ensembl ID | ENSG00000100129 |
| UniProt ID | Q9Y262 |
| OMIM ID | 609641 |
| HGNC ID | 3270 |
| Aliases | EIF3S6IP, HSPC021, HSPC025, MSTP005, eIF3k, eIF3-p48 |
Description
EIF3L 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. EIF3L is involved in regulating translation efficiency and has been implicated in cellular growth and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered EIF3L expression may affect translation of oncogenic mRNAs | COSMIC; PMID: 25691885 |
| Colorectal cancer | EIF3L overexpression correlates with poor prognosis | COSMIC; PMID: 28411373 |
| Hepatocellular carcinoma | EIF3L upregulation promotes cell proliferation | COSMIC; PMID: 27323851 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Lymph node | 18.2 | Medium |
| Brain | 12.1 | Medium |
| Liver | 8.9 | Low |
| Heart | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.4 | Embryonic kidney |
| HeLa | 19.7 | Cervical carcinoma |
| K562 | 15.3 | Leukemia |
| HepG2 | 11.8 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | missense | 0.02% (gnomAD) | Unknown functional impact |
| c.521A>G (p.Asn174Ser) | missense | 0.01% (gnomAD) | Unknown functional impact |
| c.788_789insA (p.Tyr263*) | frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Tyr263*) are predicted to cause nonsense-mediated decay or truncated protein, leading to loss of eIF3L function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for EIF3L.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for EIF3L.
View complete mutation data：
Gene Ontology (GO)
| • translation initiation factor activity | • ribosome binding |
| • cytoplasm | • eukaryotic 43S preinitiation complex |
| • regulation of translational initiation |
Pathways
• Eukaryotic Translation Initiation (Reactome R-HSA-72649)
• Cap-dependent Translation Initiation (Reactome R-HSA-72737)
• Formation of the 43S pre-initiation complex (Reactome R-HSA-72662)
Protein Summary
EIF3L is a 48 kDa protein that functions as a non-core subunit of the eIF3 complex. It contains a PCI domain (proteasome, COP9, initiation factor 3) and is involved in stabilizing the eIF3 complex. EIF3L interacts with other eIF3 subunits and may play a role in regulating translation of specific mRNAs involved in cell cycle control and differentiation.
Related Services
Related Products
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|---|---|---|---|---|
| No Data | ||||
