MRPS25: Mitochondrial Ribosomal Protein S25
A nuclear-encoded component of the mitochondrial small ribosomal subunit essential for mitochondrial translation and oxidative phosphorylation.
Gene Information Card
| Symbol | MRPS25 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein S25 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p25.1 |
| NCBI Gene ID | 64432 ncbi.nlm.nih.gov/gene/64432 |
| Ensembl ID | ENSG00000131368 |
| UniProt ID | P82664 |
| OMIM ID | 611984 |
| HGNC ID | 14511 |
| Aliases | C3orf60, COXPD50, MRP-S25, S25mt |
Description
MRPS25 encodes a 28S mitochondrial ribosomal small subunit protein (S25) that is nuclear-encoded and imported into mitochondria. It is a component of the mitochondrial ribosome (mitoribosome), which translates 13 mtDNA-encoded subunits of the oxidative phosphorylation (OXPHOS) system. Mutations in MRPS25 cause combined oxidative phosphorylation deficiency type 50 (COXPD50), characterized by early-onset encephalopathy, lactic acidosis, and respiratory chain complex deficiencies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 50 (COXPD50) | Loss-of-function mutations impair mitochondrial translation, leading to reduced synthesis of mtDNA-encoded OXPHOS subunits and multi-complex deficiency. | ClinVar, OMIM #619025 |
| Mitochondrial encephalopathy | Defective mitochondrial protein synthesis disrupts energy production in neural tissues, causing developmental delay and seizures. | OMIM #611984 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 8.5 | Medium |
| Brain | 7.2 | Low |
| Kidney | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.1 | 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.1A>G (p.Met1?) | Start loss | Rare | Loss of translation initiation, complete loss of protein |
| c.130C>T (p.Arg44Trp) | Missense | Rare | Impaired protein stability and ribosome assembly |
| c.202C>T (p.Arg68Trp) | Missense | Rare | Reduced mitochondrial translation efficiency |
Mutation functional classification
Loss of Function (LOF)
Homozygous or compound heterozygous loss-of-function mutations (e.g., start loss, missense) cause combined oxidative phosphorylation deficiency 50.
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 small ribosomal subunit (GO:0005763) |
| • translation (GO:0006412) | • mitochondrial translation (GO:0032543) |
| • mitochondrion (GO:0005739) |
Pathways
• Mitochondrial translation (Reactome R-HSA-5368287)
• Organelle biogenesis and maintenance (Reactome R-HSA-1852241)
Protein Summary
MRPS25 is a 25 kDa protein (201 amino acids) localized to the mitochondrial matrix. It is a component of the 28S small mitoribosomal subunit, which together with the 39S large subunit forms the 55S mitoribosome. The protein contains a conserved ribosomal S25 domain and is essential for accurate initiation and elongation of mitochondrial translation. Defects in MRPS25 lead to impaired synthesis of mtDNA-encoded OXPHOS subunits, resulting in combined respiratory chain deficiencies.
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