MRPS15: Mitochondrial Ribosomal Protein S15
A nuclear-encoded component of the mitochondrial small ribosomal subunit essential for mitochondrial translation and oxidative phosphorylation.
Gene Information Card
| Symbol | MRPS15 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein S15 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p34.3 |
| NCBI Gene ID | 64960 ncbi.nlm.nih.gov/gene/64960 |
| Ensembl ID | ENSG00000116898 |
| UniProt ID | P82914 |
| OMIM ID | 611981 |
| HGNC ID | 14497 |
| Aliases | S15mt, MRP-S15, COXPD38 |
Description
MRPS15 encodes a 28S mitochondrial ribosomal small subunit protein. As a component of the mitochondrial ribosome (mitoribosome), it participates in mitochondrial translation of 13 essential oxidative phosphorylation (OXPHOS) subunits. Defects in MRPS15 impair mitochondrial protein synthesis and have been linked to combined oxidative phosphorylation deficiency (COXPD).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined Oxidative Phosphorylation Deficiency 38 (COXPD38) | Loss-of-function mutations in MRPS15 reduce mitoribosome assembly and mitochondrial translation, leading to OXPHOS complex deficiencies. | ClinVar, OMIM |
| Mitochondrial Encephalopathy | Impaired mitochondrial translation due to MRPS15 defects may cause neurological symptoms. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 10.8 | Medium |
| Liver | 8.3 | Medium |
| Brain | 7.1 | Medium |
| Kidney | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| HEK293 | 13.8 | High expression |
| HepG2 | 11.4 | Medium expression |
| K562 | 9.7 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.202C>T (p.Arg68Trp) | Missense | Rare | Reduced mitoribosome assembly and translation |
| c.334G>A (p.Gly112Ser) | Missense | Rare | Impaired OXPHOS complex I and IV activity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg68Trp) reduce mitoribosome stability and mitochondrial translation, leading to OXPHOS deficiency.
Gain of Function (GOF)
No evidence of gain-of-function mutations in MRPS15.
Dominant Negative (DN)
No evidence of dominant-negative effects; mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial translation (GO:0032543) | • structural constituent of ribosome (GO:0003735) |
| • mitochondrial small ribosomal subunit (GO:0005763) | • oxidative phosphorylation (GO:0006119) |
Pathways
• Mitochondrial translation (KEGG: hsa03010)
• Oxidative phosphorylation (KEGG: hsa00190)
Protein Summary
MRPS15 is a 28S mitochondrial ribosomal protein (S15) encoded by a nuclear gene. It localizes to the mitochondrial matrix and is essential for mitoribosome assembly and function. The protein binds 12S rRNA and facilitates accurate initiation and elongation of mitochondrial translation. Defects cause combined oxidative phosphorylation deficiency (COXPD38) with multisystemic manifestations.
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