ETF1 (Eukaryotic Translation Termination Factor 1)
A key regulator of translation termination and nonsense-mediated mRNA decay, implicated in cancer and genetic disorders.
Gene Information Card
| Symbol | ETF1 |
|---|---|
| Full Name | Eukaryotic Translation Termination Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.2 |
| NCBI Gene ID | 2107 ncbi.nlm.nih.gov/gene/2107 |
| Ensembl ID | ENSG00000120705 |
| UniProt ID | P62495 |
| OMIM ID | 600285 |
| HGNC ID | 3477 |
| Aliases | ERF, TB3M1, SUP45L1 |
Description
The ETF1 gene encodes eukaryotic translation termination factor 1, a protein essential for the termination of protein synthesis. It recognizes stop codons in the mRNA and facilitates the release of the nascent polypeptide. ETF1 is also involved in nonsense-mediated mRNA decay (NMD), a surveillance pathway that degrades transcripts with premature stop codons. Mutations in ETF1 are associated with neurodevelopmental disorders and have been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and thin corpus callosum (NMIHBA) | Loss-of-function mutations impair translation termination and NMD, leading to abnormal brain development. | OMIM #618519 |
| Colorectal cancer | Somatic mutations and altered expression of ETF1 may contribute to tumorigenesis by affecting translation fidelity and NMD efficiency. | COSMIC; PMID: 23563182 |
| Breast cancer | Dysregulation of ETF1 expression has been observed, potentially influencing cell proliferation and response to therapy. | COSMIC; PMID: 25691885 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 18.5 | High |
| Testis | 15.2 | High |
| Lung | 10.1 | Medium |
| Liver | 8.4 | Medium |
| Heart | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.1 | High expression in embryonic kidney cells |
| HeLa | 19.8 | High expression in cervical cancer cells |
| K562 | 14.5 | Medium expression in leukemia cells |
| HepG2 | 11.2 | Medium expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375*) | Nonsense | Rare | Loss of function; associated with NMIHBA |
| c.1048G>A (p.Gly350Ser) | Missense | <0.01% | Impaired stop codon recognition; potential dominant-negative effect |
| c.1A>G (p.Met1?) | Start loss | Very rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or prevent its expression, leading to haploinsufficiency or complete loss of ETF1 activity.
Gain of Function (GOF)
Not well characterized; some missense mutations may alter translation termination efficiency but evidence is limited.
Dominant Negative (DN)
Missense mutations (e.g., p.Gly350Ser) that disrupt stop codon recognition and may interfere with wild-type ETF1 function.
View complete mutation data：
Gene Ontology (GO)
| • Translation termination factor activity | • RNA binding |
| • Nonsense-mediated mRNA decay | • Cytoplasm |
| • Ribosome |
Pathways
• Eukaryotic translation termination
• Nonsense-mediated decay (NMD)
Protein Summary
ETF1 is a 437-amino acid protein that forms a complex with eRF3 (GSPT1) to recognize stop codons and catalyze peptide release. It contains a conserved GGQ motif essential for peptidyl-tRNA hydrolysis. ETF1 also interacts with UPF1 and other NMD factors to degrade aberrant mRNAs. Structural studies show it adopts a shape resembling a tRNA, allowing it to fit into the ribosomal A site.
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