MRPS7: Mitochondrial Ribosomal Protein S7
A nuclear-encoded component of the mitochondrial small ribosomal subunit essential for mitochondrial translation and oxidative phosphorylation.
Gene Information Card
| Symbol | MRPS7 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein S7 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.1 |
| NCBI Gene ID | 51081 ncbi.nlm.nih.gov/gene/51081 |
| Ensembl ID | ENSG00000125445 |
| UniProt ID | Q9Y2R9 |
| OMIM ID | 611974 |
| HGNC ID | 14499 |
| Aliases | S7mt, MRP-S7, COXPD51 |
Description
MRPS7 encodes a 28S mitochondrial ribosomal small subunit protein (S7) that is nuclear-encoded and imported into mitochondria. It is a core component of the mitochondrial ribosome (mitoribosome), which translates 13 mtDNA-encoded subunits of the oxidative phosphorylation (OXPHOS) system. Defects in MRPS7 impair mitochondrial translation, leading to combined OXPHOS deficiency and multisystem disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 51 (COXPD51) | Loss-of-function mutations in MRPS7 impair mitoribosome assembly or function, reducing translation of mtDNA-encoded OXPHOS subunits and causing energy deficiency. | ClinVar, OMIM |
| Leigh syndrome | MRPS7 mutations have been reported in patients with Leigh-like neuroimaging and biochemical OXPHOS defects. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Heart | 10.8 | Medium |
| Brain | 8.5 | Medium |
| Skeletal Muscle | 7.2 | Low |
| Kidney | 9.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | Ubiquitous expression |
| HEK293 | 13.2 | Ubiquitous expression |
| K562 | 11.8 | Ubiquitous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.322C>T (p.Arg108Trp) | Missense | Rare | Impaired mitoribosome assembly; associated with COXPD51 |
| c.550G>A (p.Gly184Arg) | Missense | Rare | Reduced mitochondrial translation; Leigh syndrome phenotype |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of protein expression; severe OXPHOS deficiency |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations that reduce MRPS7 protein stability or mitoribosome incorporation, leading to decreased mitochondrial translation and OXPHOS complex deficiencies.
Gain of Function (GOF)
No gain-of-function mutations reported for MRPS7.
Dominant Negative (DN)
No dominant-negative mutations reported; all pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mitochondrial translation (Reactome: R-HSA-5389840)
• Oxidative phosphorylation (KEGG: hsa00190)
• Organelle biogenesis and maintenance (Reactome: R-HSA-1852241)
Protein Summary
MRPS7 is a 28S mitochondrial ribosomal protein (S7) that forms part of the small subunit of the mitoribosome. It is essential for decoding mt-mRNAs and synthesizing 13 OXPHOS subunits. The protein is 242 amino acids long, with a mitochondrial targeting presequence that is cleaved upon import. Structural studies show it interacts with 12S rRNA and other small subunit proteins to stabilize the decoding center.
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