MRPS27: Mitochondrial Ribosomal Protein S27
A nuclear-encoded component of the mitochondrial small ribosomal subunit essential for mitochondrial translation and oxidative phosphorylation.
Gene Information Card
| Symbol | MRPS27 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein S27 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q13.2 |
| NCBI Gene ID | 23107 ncbi.nlm.nih.gov/gene/23107 |
| Ensembl ID | ENSG00000113088 |
| UniProt ID | Q92552 |
| OMIM ID | 611990 |
| HGNC ID | 14518 |
| Aliases | MRP-S27, S27mt, COXPD50 |
Description
MRPS27 encodes a 28S mitochondrial ribosomal small subunit protein (S27) 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. MRPS27 is essential for proper assembly and function of the small ribosomal subunit, and its deficiency impairs mitochondrial translation leading to combined OXPHOS defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined Oxidative Phosphorylation Deficiency 50 (COXPD50) | Biallelic loss-of-function mutations in MRPS27 impair mitochondrial translation, reducing synthesis of mtDNA-encoded OXPHOS subunits, leading to multisystem mitochondrial disease. | OMIM #619025; PMID: 32693025 |
| Leigh Syndrome | MRPS27 mutations cause mitochondrial dysfunction and neurodegeneration characteristic of Leigh syndrome. | PMID: 32693025 |
| Mitochondrial Complex I Deficiency | Defective mitochondrial translation due to MRPS27 mutations results in reduced complex I assembly and activity. | PMID: 32693025 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal Muscle | 10.8 | High |
| Liver | 8.2 | Medium |
| Brain | 7.1 | Medium |
| Kidney | 6.9 | Medium |
| Pancreas | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | High expression |
| HEK293 | 11.5 | High expression |
| HepG2 | 9.8 | Medium expression |
| K562 | 7.3 | Medium 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 function; impairs mitoribosome assembly |
| c.449_450del (p.Glu150Glyfs*12) | Frameshift | Rare | Loss of function; premature truncation |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of function; translation initiation failure |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations (missense, frameshift, start loss) cause combined oxidative phosphorylation deficiency 50 (COXPD50) by disrupting mitochondrial translation.
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)
• Oxidative phosphorylation (KEGG: hsa00190)
• Organelle biogenesis and maintenance (Reactome: R-HSA-1852241)
Protein Summary
MRPS27 is a 414-amino-acid protein (UniProt Q92552) localized to the mitochondrial matrix. It is a component of the 28S small subunit of the mitochondrial ribosome. The protein contains a conserved ribosomal protein S27 domain and is involved in mitoribosome assembly and initiation of mitochondrial translation. Defects in MRPS27 lead to impaired synthesis of mtDNA-encoded OXPHOS subunits, causing combined respiratory chain deficiencies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
