MRPS5: Mitochondrial Ribosomal Protein S5
A nuclear-encoded component of the mitochondrial small ribosomal subunit essential for intra-mitochondrial protein synthesis
Gene Information Card
| Symbol | MRPS5 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein S5 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q11.2 |
| NCBI Gene ID | 64969 ncbi.nlm.nih.gov/gene/64969 |
| Ensembl ID | ENSG00000144028 |
| UniProt ID | P82675 |
| OMIM ID | 611974 |
| HGNC ID | 14497 |
| Aliases | MRP-S5, S5mt, COXPD38 |
Description
MRPS5 encodes a 28S mitochondrial ribosomal small subunit protein (MRP-S5). As a component of the mitochondrial ribosome (mitoribosome), it participates in the translation of 13 mitochondrial-encoded subunits of the oxidative phosphorylation (OXPHOS) complexes. The protein is nuclear-encoded, synthesized in the cytosol, and imported into the mitochondria. Defects in MRPS5 are associated with combined oxidative phosphorylation deficiency type 38 (COXPD38), a severe multisystem disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 38 (COXPD38) | Loss-of-function mutations impair mitochondrial translation, reducing OXPHOS complex assembly and ATP production | ClinVar, OMIM #611974 |
| Leigh syndrome spectrum | MRPS5 variants cause mitochondrial dysfunction leading to neurodegeneration | ClinVar, literature case reports |
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 | 14.5 | Ubiquitous expression |
| HEK293 | 13.2 | Ubiquitous expression |
| K562 | 11.0 | 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 | Loss of protein stability and reduced mitoribosome assembly |
| c.463G>A (p.Gly155Arg) | Missense | Rare | Impaired mitochondrial translation |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish MRPS5 function, leading to defective mitochondrial translation and OXPHOS deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; all pathogenic variants are 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) |
| • mitochondrion (GO:0005739) |
Pathways
• Mitochondrial translation (Reactome R-HSA-5368287)
• Organelle biogenesis and maintenance (Reactome R-HSA-1852241)
Protein Summary
MRPS5 is a 43.5 kDa protein (430 amino acids) that belongs to the ribosomal protein S5 family. It is a core component of the 28S small mitochondrial ribosomal subunit. The protein contains an N-terminal mitochondrial targeting sequence that is cleaved upon import. MRPS5 interacts with 12S mitochondrial rRNA and other small subunit proteins to form the decoding center of the mitoribosome. Its expression is ubiquitous, with highest levels in tissues with high energy demand such as heart and skeletal muscle.
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