MRPL17: Mitochondrial Ribosomal Protein L17
A component of the mitochondrial large ribosomal subunit essential for mitochondrial translation and oxidative phosphorylation.
Gene Information Card
| Symbol | MRPL17 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein L17 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 63875 ncbi.nlm.nih.gov/gene/63875 |
| Ensembl ID | ENSG00000158042 |
| UniProt ID | Q9NRX2 |
| OMIM ID | 611830 |
| HGNC ID | 14483 |
| Aliases | L17mt, MRP-L17, 39S ribosomal protein L17, mitochondrial |
Description
MRPL17 encodes a 39S subunit protein of the mitochondrial ribosome. This protein is a component of the large ribosomal subunit (mt-LSU) and is involved in mitochondrial translation, which is essential for the synthesis of 13 subunits of the oxidative phosphorylation (OXPHOS) system. Defects in MRPL17 can impair mitochondrial protein synthesis and lead to mitochondrial dysfunction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency | Loss-of-function mutations in MRPL17 impair mitochondrial translation, reducing OXPHOS complex assembly and ATP production. | ClinVar, OMIM |
| Mitochondrial complex I deficiency | Defective mitochondrial translation due to MRPL17 mutations leads to reduced complex I activity. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 8.2 | Low |
| Brain | 7.1 | Low |
| Kidney | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | High expression |
| HEK293 | 12.1 | Medium expression |
| K562 | 9.8 | Medium expression |
| HepG2 | 7.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245G>A (p.Arg82Gln) | Missense | Rare | Likely loss of function; associated with combined oxidative phosphorylation deficiency |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein produced |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish MRPL17 function, impairing mitochondrial translation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • mitochondrial large ribosomal subunit (GO:0005763) |
| • mitochondrial translation (GO:0032543) | • mitochondrion (GO:0005739) |
Pathways
• Mitochondrial translation (Reactome: R-HSA-5389840)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
MRPL17 is a 39S mitochondrial ribosomal protein that forms part of the large ribosomal subunit. It is synthesized in the cytosol and imported into the mitochondria, where it assembles with mitochondrial rRNA and other ribosomal proteins to facilitate translation of mtDNA-encoded OXPHOS subunits. The protein contains a conserved ribosomal protein L17 domain.
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