EIF3J
Eukaryotic Translation Initiation Factor 3 Subunit J
Gene Information Card
| Symbol | EIF3J |
|---|---|
| Full Name | Eukaryotic Translation Initiation Factor 3 Subunit J |
| Gene Type | protein-coding |
| Chromosomal Location | 15q21.1 |
| NCBI Gene ID | 8669 ncbi.nlm.nih.gov/gene/8669 |
| Ensembl ID | ENSG00000104081 |
| UniProt ID | O75822 |
| OMIM ID | 603910 |
| HGNC ID | 3270 |
| Aliases | eIF3-p35, eIF3j, MGC107188 |
Description
EIF3J 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. EIF3J specifically interacts with the 40S subunit and is involved in mRNA recruitment and scanning. It is widely expressed in human tissues and has been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of eIF3 complex alters translation of oncogenes and tumor suppressors; EIF3J overexpression observed in breast, lung, and colorectal cancers. | COSMIC; literature review |
| Intellectual disability (candidate) | De novo missense variants in EIF3J identified in patients with neurodevelopmental delay; potential impact on translation in neurons. | ClinVar; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Thyroid | 18.2 | Medium |
| Lymph node | 15.1 | Medium |
| Brain (cerebellum) | 12.8 | Medium |
| Liver | 10.3 | Medium |
| Heart | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.4 | Embryonic kidney; high expression |
| HeLa | 19.7 | Cervical carcinoma; high expression |
| K562 | 15.3 | Leukemia; medium expression |
| A549 | 14.1 | Lung carcinoma; medium expression |
| HepG2 | 11.2 | Hepatocellular carcinoma; medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; predicted to affect translation initiation |
| c.287C>T (p.Pro96Leu) | missense | <0.01% | Reported in ClinVar as variant of uncertain significance; may alter protein stability |
| c.421G>A (p.Glu141Lys) | missense | <0.01% | Found in COSMIC in colorectal cancer; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in EIF3J are rare but predicted to impair eIF3 complex assembly and global translation initiation, potentially leading to reduced cell proliferation.
Gain of Function (GOF)
No gain-of-function mutations have been characterized for EIF3J.
Dominant Negative (DN)
Dominant-negative effects have not been reported for EIF3J mutations.
View complete mutation data：
Gene Ontology (GO)
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-72689)
Protein Summary
EIF3J (eukaryotic translation initiation factor 3 subunit J) is a 35 kDa protein that forms part of the eIF3 complex. It contains a conserved RNA-binding domain and directly interacts with the 40S ribosomal subunit. EIF3J is essential for the recruitment of mRNA to the ribosome and for scanning of the 5' untranslated region. The protein is localized in the cytoplasm and is highly expressed in tissues with active protein synthesis, such as testis and thyroid. Alterations in EIF3J expression or function have been linked to cancer and neurodevelopmental disorders.
Related Services
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|---|---|---|---|---|
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