MRPL19: Mitochondrial Ribosomal Protein L19
A nuclear-encoded component of the mitochondrial large ribosomal subunit involved in intra-mitochondrial protein synthesis.
Gene Information Card
| Symbol | MRPL19 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein L19 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p12 |
| NCBI Gene ID | 9801 ncbi.nlm.nih.gov/gene/9801 |
| Ensembl ID | ENSG00000115364 |
| UniProt ID | P49406 |
| OMIM ID | 611832 |
| HGNC ID | 14059 |
| Aliases | L19mt, MRP-L19, RPML19 |
Description
MRPL19 encodes a 39S subunit protein of the mitochondrial ribosome. This nuclear-encoded protein is imported into mitochondria and is essential for mitochondrial translation. Mutations in MRPL19 have been linked to combined oxidative phosphorylation deficiency (COXPD), a disorder affecting multiple mitochondrial respiratory chain complexes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 15 (COXPD15) | Loss-of-function mutations impair mitochondrial ribosome assembly and translation, reducing ATP production. | OMIM #614947; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 14.2 | Medium |
| Skeletal muscle | 11.8 | Medium |
| Liver | 9.5 | Medium |
| Brain | 8.1 | Low |
| Kidney | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.5 | Embryonic kidney cells |
| HeLa | 10.1 | Cervical carcinoma cells |
| K562 | 9.8 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.434C>T (p.Pro145Leu) | Missense | Rare | Reduced mitochondrial translation efficiency |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss variants reduce or abolish MRPL19 function, leading to impaired mitochondrial translation.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative mechanism described.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • mitochondrial large ribosomal subunit (GO:0005763) |
| • mitochondrial translation (GO:0032543) |
Pathways
• Mitochondrial translation (Reactome: R-HSA-5389840)
• Organelle biogenesis and maintenance (Reactome: R-HSA-1852241)
Protein Summary
MRPL19 is a 39S subunit protein of the mitochondrial ribosome. It is synthesized in the cytosol and imported into mitochondria, where it participates in the assembly of the large ribosomal subunit and facilitates mitochondrial protein synthesis. Defects in MRPL19 cause combined oxidative phosphorylation deficiency type 15.
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