MRPS11: Mitochondrial Ribosomal Protein S11
A core component of the mitochondrial small ribosomal subunit involved in intra-mitochondrial protein synthesis
Gene Information Card
| Symbol | MRPS11 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein S11 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q25.3 |
| NCBI Gene ID | 64963 ncbi.nlm.nih.gov/gene/64963 |
| Ensembl ID | ENSG00000137876 |
| UniProt ID | P82912 |
| OMIM ID | 611979 |
| HGNC ID | 14049 |
| Aliases | S11mt, MRP-S11, 28S ribosomal protein S11, mitochondrial |
Description
MRPS11 encodes a component of the mitochondrial small ribosomal subunit (28S). This protein is essential for mitochondrial translation, enabling the synthesis of 13 subunits of the oxidative phosphorylation (OXPHOS) complexes encoded by the mitochondrial genome. MRPS11 is a nuclear-encoded gene whose product is imported into mitochondria. Defects in MRPS11 can impair mitochondrial protein synthesis, leading to OXPHOS deficiency and cellular energy failure.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency | Impaired mitochondrial translation due to MRPS11 loss-of-function reduces synthesis of OXPHOS subunits, leading to multi-system energy failure. | ClinVar, OMIM |
| Mitochondrial complex I deficiency | Defective mitochondrial translation decreases assembly of complex I, a major OXPHOS complex. | ClinVar, OMIM |
| Leigh syndrome | Severe OXPHOS deficiency from MRPS11 mutations can cause necrotizing encephalopathy characteristic of Leigh syndrome. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 11.8 | Medium |
| Skeletal muscle | 10.2 | Medium |
| Brain | 9.1 | Medium |
| Kidney | 8.7 | Medium |
| Testis | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical adenocarcinoma; high expression |
| HEK293 | 13.5 | Embryonic kidney; high expression |
| K562 | 11.0 | Leukemia; medium expression |
| HepG2 | 10.8 | Hepatocellular carcinoma; medium expression |
| A549 | 9.5 | Lung carcinoma; medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.382C>T (p.Arg128Trp) | Missense | <0.01% | Loss of function; reduced mitochondrial translation |
| c.463G>A (p.Gly155Ser) | Missense | <0.01% | Loss of function; impaired ribosome assembly |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of function; no protein produced |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish MRPS11 protein function, impairing mitochondrial translation and OXPHOS.
Gain of Function (GOF)
No gain-of-function mutations reported for MRPS11.
Dominant Negative (DN)
No dominant-negative mutations reported for MRPS11.
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)
• Respiratory electron transport (REACTOME R-HSA-611105)
Protein Summary
MRPS11 is a 194-amino-acid protein (22.3 kDa) that localizes to the mitochondrial matrix. It is a structural component of the 28S small ribosomal subunit, where it interacts with mitochondrial rRNA and other ribosomal proteins to form the decoding center. The protein contains a conserved ribosomal S11 domain. MRPS11 is essential for accurate initiation and elongation of mitochondrial translation. Its deficiency leads to reduced synthesis of mtDNA-encoded OXPHOS subunits, causing mitochondrial dysfunction.
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