MTRF1L
Mitochondrial Translational Release Factor 1 Like
Gene Information Card
| Symbol | MTRF1L |
|---|---|
| Full Name | Mitochondrial Translational Release Factor 1 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 6q25.3 |
| NCBI Gene ID | 54516 ncbi.nlm.nih.gov/gene/54516 |
| Ensembl ID | ENSG00000112081 |
| UniProt ID | Q9UGC7 |
| OMIM ID | 614554 |
| HGNC ID | 17987 |
| Aliases | mtRF1a, MTRF1A, MTRF1L1 |
Description
MTRF1L encodes a mitochondrial translational release factor that recognizes stop codons in mitochondrial mRNAs and promotes the release of the nascent polypeptide chain from the ribosome. It is essential for proper termination of mitochondrial protein synthesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency | Impaired mitochondrial translation due to MTRF1L dysfunction | ClinVar, OMIM |
| Mitochondrial myopathy | Defective termination of mitochondrial protein synthesis | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Liver | 8.3 | Low |
| Brain | 6.1 | Low |
| Skeletal Muscle | 10.2 | Medium |
| Kidney | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.8 | Moderate expression |
| HEK293 | 7.2 | Low expression |
| HepG2 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Start codon loss, likely loss of function |
| c.235C>T | Nonsense | <0.01% | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and impaired 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 protein synthesis
Protein Summary
MTRF1L is a 45 kDa mitochondrial protein that binds to mitochondrial ribosomes upon recognition of stop codons (UAA, UAG) in mitochondrial mRNAs. It catalyzes the hydrolysis of the peptidyl-tRNA bond, releasing the completed polypeptide. The protein is localized to the mitochondrial matrix.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTRF1L Knockout HEK293 Cell Line | EDJ-KQ11449 | Human | 54516 | 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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