MTRF1
Mitochondrial Translation Release Factor 1
Gene Information Card
| Symbol | MTRF1 |
|---|---|
| Full Name | Mitochondrial Translation Release Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q14.11 |
| NCBI Gene ID | 9617 ncbi.nlm.nih.gov/gene/9617 |
| Ensembl ID | ENSG00000102468 |
| UniProt ID | O75570 |
| OMIM ID | 604601 |
| HGNC ID | 7468 |
| Aliases | mtRF1, MRF1, MTRF1A |
Description
MTRF1 encodes a mitochondrial translation release factor that recognizes stop codons in mitochondrial mRNAs and promotes the release of nascent polypeptides from the ribosome. It is essential for termination of mitochondrial protein synthesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency | Loss of MTRF1 function impairs mitochondrial translation, leading to respiratory chain defects | PMID: 29300877 |
| Mitochondrial encephalopathy | Mutations in MTRF1 associated with neurological symptoms and mitochondrial dysfunction | ClinVar: RCV000626080 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.2 | Medium |
| Liver | 8.1 | Low |
| Brain | 6.4 | Low |
| Kidney | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 12.0 | Moderate expression |
| HepG2 | 9.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.625C>T (p.Arg209*) | Nonsense | Rare | Loss of function; truncated protein |
| c.1018G>A (p.Gly340Arg) | Missense | Rare | Impaired release factor activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent MTRF1 protein, impairing mitochondrial translation termination.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial translation termination | • ribosome release factor activity |
| • mitochondrion | • translation release factor activity |
Pathways
• Mitochondrial translation termination
• Organellar biogenesis and maintenance
Protein Summary
MTRF1 is a 44 kDa mitochondrial protein that binds to mitochondrial ribosomes upon recognition of stop codons (UAA, UAG) and catalyzes the hydrolysis of the peptidyl-tRNA bond, releasing the completed polypeptide. It is localized in the mitochondrial matrix and is critical for proper mitochondrial gene expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTRF1 Knockout HEK293 Cell Line | EDJ-KQ6667 | Human | 9617 | Details Get a Quote |
| MTRF1L Knockout HEK293 Cell Line | EDJ-KQ11449 | Human | 54516 | Details Get a Quote |
| MTRF1 Knockout A-549 Cell Line | EDJ-KQ30973 | Human | 9617 | Details Get a Quote |
| MTRF1 Knockout HCT 116 Cell Line | EDJ-KQ30974 | Human | 9617 | Details Get a Quote |
| MTRF1 Knockout HeLa Cell Line | EDJ-KQ30975 | Human | 9617 | Details Get a Quote |
| MTRF1L Knockout HeLa Cell Line | EDJ-KQ38393 | Human | 54516 | Details Get a Quote |
| MTRF1L Knockout A-549 Cell Line | EDJ-KQ39727 | Human | 54516 | Details Get a Quote |
| MTRF1L Knockout HCT 116 Cell Line | EDJ-KQ39728 | Human | 54516 | Details Get a Quote |
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