MRPL11
Mitochondrial Ribosomal Protein L11
Gene Information Card
| Symbol | MRPL11 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein L11 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.2 |
| NCBI Gene ID | 65003 ncbi.nlm.nih.gov/gene/65003 |
| Ensembl ID | ENSG00000174547 |
| UniProt ID | Q9Y3B7 |
| OMIM ID | 611826 |
| HGNC ID | 14026 |
| Aliases | L11MT, MRP-L11, 39S ribosomal protein L11, mitochondrial |
Description
MRPL11 encodes a 39S subunit protein of the mitochondrial ribosome. This protein is a component of the large mitochondrial ribosomal subunit and is involved in mitochondrial translation. It is a nuclear-encoded gene that is essential for mitochondrial protein synthesis and oxidative phosphorylation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined Oxidative Phosphorylation Deficiency 36 | Deficiency in mitochondrial translation due to MRPL11 mutations leads to impaired complex I and IV assembly | PMID: 32381727 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 | MRPL11 mutations cause reduced mitochondrial ribosome assembly and translation, affecting complex I biogenesis | PMID: 32381727 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 11.8 | Medium |
| Skeletal Muscle | 10.2 | Medium |
| Kidney | 9.1 | Medium |
| Brain | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.3 | High expression |
| HeLa | 12.1 | Medium expression |
| K562 | 9.8 | Medium expression |
| HepG2 | 11.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245G>A (p.Arg82His) | Missense | Rare | Reduced mitochondrial translation and complex I activity |
| c.332C>T (p.Pro111Leu) | Missense | Rare | Impaired ribosome assembly |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg82His, p.Pro111Leu) reduce mitochondrial translation, leading to combined oxidative phosphorylation deficiency.
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 large ribosomal subunit (GO:0005763) |
| • translation (GO:0006412) | • mitochondrial translation (GO:0032543) |
Pathways
• Mitochondrial translation (Reactome: R-HSA-5389840)
• Organelle biogenesis and maintenance (Reactome: R-HSA-1852241)
Protein Summary
MRPL11 is a 39S mitochondrial ribosomal protein that forms part of the large subunit of the mitochondrial ribosome. It is essential for mitochondrial protein synthesis, particularly for the translation of 13 mtDNA-encoded subunits of the oxidative phosphorylation system. Defects in MRPL11 impair complex I and IV assembly, leading to mitochondrial disease.
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