MRPL58: Mitochondrial Ribosomal Protein L58
A component of the mitochondrial large ribosomal subunit involved in mitochondrial translation and cellular energy metabolism.
Gene Information Card
| Symbol | MRPL58 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein L58 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q22.1 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000114520 |
| UniProt ID | Q9Y3D3 |
| OMIM ID | 611822 |
| HGNC ID | 14486 |
| Aliases | L58mt, MRP-L58, RPML3 |
Description
MRPL58 encodes a mitochondrial ribosomal protein that is a component of the large 39S subunit of the mitochondrial ribosome. This protein is essential for mitochondrial protein synthesis, which is critical for oxidative phosphorylation and cellular energy production. The gene is located on chromosome 3q22.1 and is expressed ubiquitously.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency | Impaired mitochondrial translation due to MRPL58 dysfunction | ClinVar: pathogenic variants associated with mitochondrial disorder |
| Mitochondrial respiratory chain deficiency | Defective assembly of respiratory chain complexes | OMIM: 611822 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Brain | 6.1 | Low |
| Skeletal Muscle | 10.2 | Medium |
| Kidney | 7.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.0 | High expression |
| HEK293 | 11.5 | Medium expression |
| K562 | 9.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.292C>T (p.Arg98Trp) | Missense | Rare | Loss of function; reduced mitochondrial translation |
| c.463G>A (p.Gly155Ser) | Missense | Rare | Likely pathogenic; impaired ribosome assembly |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg98Trp) reduce mitochondrial translation efficiency.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial large ribosomal subunit | • structural constituent of ribosome |
| • mitochondrial translation | • rRNA binding |
Pathways
• Mitochondrial translation
• Organelle biogenesis and maintenance
Protein Summary
MRPL58 is a 25.6 kDa protein that localizes to the mitochondrial matrix and forms part of the large ribosomal subunit. It interacts with rRNA and other ribosomal proteins to facilitate peptide bond formation during mitochondrial protein synthesis. Defects in MRPL58 can lead to mitochondrial dysfunction and are associated with combined oxidative phosphorylation deficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRPL58 Knockout HEK293 Cell Line | EDJ-KQ4958 | Human | 3396 | Details Get a Quote |
| MRPL58 Knockout A-549 Cell Line | EDJ-KQ27826 | Human | 3396 | Details Get a Quote |
| MRPL58 Knockout HCT 116 Cell Line | EDJ-KQ27827 | Human | 3396 | Details Get a Quote |
| MRPL58 Knockout HeLa Cell Line | EDJ-KQ27828 | Human | 3396 | Details Get a Quote |
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