MRPL13: Mitochondrial Ribosomal Protein L13
A core component of the mitochondrial large ribosomal subunit involved in intra-mitochondrial protein synthesis
Gene Information Card
| Symbol | MRPL13 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein L13 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q22.1 |
| NCBI Gene ID | 28998 ncbi.nlm.nih.gov/gene/28998 |
| Ensembl ID | ENSG00000172172 |
| UniProt ID | Q9BYD1 |
| OMIM ID | 611836 |
| HGNC ID | 14478 |
| Aliases | L13mt, MRP-L13, 39S ribosomal protein L13, mitochondrial |
Description
MRPL13 encodes a 39S subunit protein of the mitochondrial ribosome. This protein is a component of the large ribosomal subunit (mt-LSU) and is essential for mitochondrial translation. It is synthesized in the cytosol and imported into mitochondria, where it assembles with mitochondrial rRNA to form functional ribosomes that translate the 13 mtDNA-encoded oxidative phosphorylation subunits.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency (unspecified) | Loss-of-function mutations impair mitochondrial translation, reducing ATP production | ClinVar: pathogenic missense and frameshift variants |
| Mitochondrial complex I deficiency | Defective mt-LSU assembly leads to reduced synthesis of ND subunits | OMIM: 611836; functional studies in patient fibroblasts |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 18.5 | High |
| Skeletal Muscle | 15.2 | High |
| Liver | 12.1 | Medium |
| Brain | 10.8 | Medium |
| Kidney | 9.4 | Medium |
| Lung | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.1 | High expression; used in ribosome profiling |
| HeLa | 19.8 | High expression; mitochondrial translation model |
| HepG2 | 14.5 | Medium expression; liver-derived |
| K562 | 11.2 | Medium expression; erythroleukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245G>A (p.Arg82Gln) | Missense | <0.01% | Reduced mt-LSU assembly; ClinVar pathogenic |
| c.421_422del (p.Leu141Valfs*3) | Frameshift | <0.01% | Loss of function; nonsense-mediated decay; ClinVar pathogenic |
| c.1A>G (p.Met1?) | Start loss | <0.01% | No protein produced; ClinVar pathogenic |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss variants lead to complete loss of MRPL13 protein, impairing mitochondrial ribosome assembly and translation.
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 large ribosomal subunit (GO:0005763) |
| • mitochondrial translation (GO:0032543) | • mitochondrion (GO:0005739) |
| • translation (GO:0006412) |
Pathways
• Mitochondrial translation (REACT: R-HSA-5368287)
• Organelle biogenesis and maintenance (REACT: R-HSA-1852241)
Protein Summary
MRPL13 is a 199-amino-acid protein (22.8 kDa) localized to the mitochondrial matrix. It is an integral component of the 39S large ribosomal subunit, interacting with mitochondrial 16S rRNA and other ribosomal proteins. The protein contains a conserved ribosomal L13 domain and is essential for the elongation step of mitochondrial translation. Defects in MRPL13 lead to impaired synthesis of mtDNA-encoded OXPHOS subunits, resulting in mitochondrial dysfunction.
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