MRPL48: Mitochondrial Ribosomal Protein L48
A component of the mitochondrial large ribosomal subunit involved in intra-mitochondrial protein synthesis
Gene Information Card
| Symbol | MRPL48 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein L48 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.2 |
| NCBI Gene ID | 51642 ncbi.nlm.nih.gov/gene/51642 |
| Ensembl ID | ENSG00000137709 |
| UniProt ID | Q96GC5 |
| OMIM ID | 611841 |
| HGNC ID | 16652 |
| Aliases | MRP-L48, L48mt, COXPD13 |
Description
MRPL48 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. Mutations in MRPL48 have been associated with combined oxidative phosphorylation deficiency type 13 (COXPD13), a mitochondrial disorder characterized by multisystem involvement.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 13 (COXPD13) | Loss-of-function mutations impair mitochondrial translation, leading to reduced activity of respiratory chain complexes I, III, IV, and V. | PMID: 25263193, ClinVar |
| Mitochondrial encephalopathy | Disruption of mitochondrial protein synthesis affects ATP production in neural tissues. | PMID: 25263193 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 8.5 | Medium |
| Brain | 7.2 | Low |
| Kidney | 9.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | High expression |
| HEK293 | 11.2 | Medium expression |
| K562 | 9.8 | Medium expression |
| HepG2 | 10.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | Rare | Loss of function; associated with COXPD13 |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; associated with COXPD13 |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent 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.
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) |
Pathways
• Mitochondrial translation (Reactome: R-HSA-5389840)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
MRPL48 is a 39S mitochondrial ribosomal protein that forms part of the large subunit of the mitochondrial ribosome. It is synthesized in the cytosol and imported into mitochondria, where it assembles with mitochondrial rRNA and other ribosomal proteins to facilitate translation of 13 mtDNA-encoded subunits of the oxidative phosphorylation system. The mature protein contains a mitochondrial targeting sequence and a ribosomal protein L48 domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRPL48 Knockout HEK293 Cell Line | EDJ-KQ51337 | Human | 51642 | Details Get a Quote |
| MRPL48 Knockout HeLa Cell Line | EDJ-KQ56340 | Human | 51642 | Details Get a Quote |
| MRPL48 Knockout A-549 Cell Line | EDJ-KQ64828 | Human | 51642 | Details Get a Quote |
| MRPL48 Knockout HCT 116 Cell Line | EDJ-KQ73273 | Human | 51642 | Details Get a Quote |
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