MRPS10: Mitochondrial Ribosomal Protein S10
A nuclear-encoded component of the mitochondrial small ribosomal subunit essential for intra-mitochondrial protein synthesis.
Gene Information Card
| Symbol | MRPS10 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein S10 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 55173 ncbi.nlm.nih.gov/gene/55173 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | P82664 |
| OMIM ID | 611983 |
| HGNC ID | 14499 |
| Aliases | MRP-S10, S10mt, COXPD2 |
Description
MRPS10 encodes a component of the mitochondrial small ribosomal subunit (28S). This protein is essential for mitochondrial translation and thus for the assembly of oxidative phosphorylation complexes. Mutations in MRPS10 cause combined oxidative phosphorylation deficiency type 2 (COXPD2), a severe multisystem disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 2 (COXPD2) | Loss-of-function mutations impair mitochondrial translation, reducing complex I, III, IV, and V activity. | OMIM #611983; ClinVar pathogenic variants |
| Leigh syndrome | Secondary mitochondrial dysfunction due to defective translation. | Case reports in ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 8.5 | Medium |
| Brain | 7.1 | Low |
| Kidney | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | High expression |
| HEK293 | 11.5 | Medium expression |
| K562 | 9.8 | Medium expression |
| HepG2 | 8.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.332G>A (p.Arg111Gln) | Missense | Rare | Reduced protein stability and impaired mitochondrial translation |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein expression |
| c.424C>T (p.Arg142*) | Nonsense | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Pathogenic missense, nonsense, and start-loss variants lead to reduced or absent MRPS10 protein, impairing mitochondrial translation and causing COXPD2.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mechanism described; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • mitochondrial small ribosomal subunit (GO:0005763) |
| • translation (GO:0006412) | • mitochondrial translation (GO:0032543) |
Pathways
• Mitochondrial translation (Reactome R-HSA-5368287)
• Organelle biogenesis and maintenance (Reactome R-HSA-1852241)
Protein Summary
MRPS10 is a 20.6 kDa protein (185 amino acids) localized to the mitochondrial matrix. It is a component of the 28S small ribosomal subunit, interacting with 12S rRNA and other ribosomal proteins to form the mitochondrial ribosome. The protein contains a conserved S10 domain and is essential for accurate initiation and elongation of mitochondrial translation.
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