MRPL15: Mitochondrial Ribosomal Protein L15
A core component of the mitochondrial large ribosomal subunit involved in mitochondrial translation and oxidative phosphorylation.
Gene Information Card
| Symbol | MRPL15 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein L15 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q11.23 |
| NCBI Gene ID | 29088 ncbi.nlm.nih.gov/gene/29088 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q9P015 |
| OMIM ID | 611828 |
| HGNC ID | 14479 |
| Aliases | L15mt, MRP-L15, RPML15 |
Description
MRPL15 encodes a mitochondrial ribosomal protein (L15) that is a component of the large 39S subunit of the mitochondrial ribosome. This protein is essential for mitochondrial translation, which produces key subunits of the oxidative phosphorylation complexes. MRPL15 is ubiquitously expressed and its dysfunction can impair mitochondrial protein synthesis, leading to cellular energy deficits.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency | Deficiency in mitochondrial translation due to MRPL15 mutations reduces synthesis of OXPHOS subunits | ClinVar: pathogenic variants reported in patients with mitochondrial encephalopathy and lactic acidosis |
| Mitochondrial encephalopathy | Impaired mitochondrial protein synthesis leads to energy failure in neural tissues | OMIM: associated with MRPL15 variants in case studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 18.5 | High |
| Skeletal Muscle | 15.2 | High |
| Liver | 12.8 | Medium |
| Brain | 10.1 | Medium |
| Kidney | 9.4 | Medium |
| Lung | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.6 | Cervical carcinoma cell line |
| HEK293 | 13.1 | Embryonic kidney cells |
| K562 | 11.9 | Leukemia cell line |
| HepG2 | 10.5 | Hepatocellular carcinoma |
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; reduced mitochondrial translation |
| c.364C>T (p.Arg122Trp) | Missense | Rare | Impaired ribosome assembly |
| c.1A>G (p.Met1?) | Start loss | Very rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish MRPL15 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-5368287)
• Oxidative phosphorylation (KEGG: hsa00190)
Protein Summary
MRPL15 is a 296-amino-acid protein that localizes to the mitochondrial matrix and forms part of the large ribosomal subunit (39S). It interacts with ribosomal RNA and other proteins to facilitate mRNA translation within mitochondria. The protein is highly conserved across eukaryotes and is essential for the synthesis of 13 OXPHOS subunits encoded by the mitochondrial genome.
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