MRPL50
Mitochondrial Ribosomal Protein L50
Gene Information Card
| Symbol | MRPL50 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein L50 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q31.3 |
| NCBI Gene ID | 54534 ncbi.nlm.nih.gov/gene/54534 |
| Ensembl ID | ENSG00000136883 |
| UniProt ID | Q8N5N7 |
| OMIM ID | 611822 |
| HGNC ID | 16651 |
| Aliases | L50MT, MRP-L50, RPML50 |
Description
MRPL50 encodes a 50S subunit protein of the mitochondrial ribosome. Mitochondrial ribosomes (mitoribosomes) are responsible for translating the 13 protein-coding genes encoded by mitochondrial DNA. MRPL50 is a component of the large (39S) subunit and is essential for mitochondrial protein synthesis, oxidative phosphorylation, and cellular energy production.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined Oxidative Phosphorylation Deficiency (COXPD) | Defects in mitochondrial ribosomal proteins impair translation of mtDNA-encoded subunits of the electron transport chain, leading to energy deficiency. | ClinVar: pathogenic variants in MRPL50 associated with COXPD phenotypes. |
| Mitochondrial Encephalopathy | Dysfunctional mitoribosomes can cause neurological symptoms due to impaired ATP production in neurons. | OMIM: 611822; case reports linking MRPL50 variants to encephalopathy. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 10.3 | Medium |
| Skeletal Muscle | 9.8 | Medium |
| Brain | 7.2 | Low |
| Kidney | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.1 | High expression in cervical cancer cell line |
| HEK293 | 13.4 | High expression in embryonic kidney cells |
| K562 | 8.9 | Moderate expression in leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.332G>A (p.Arg111His) | Missense | <0.01% | Likely pathogenic; reported in ClinVar for COXPD |
| c.418C>T (p.Arg140*) | Nonsense | <0.01% | Loss of function; predicted to cause nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated or absent MRPL50 protein impair mitoribosome assembly and mitochondrial translation.
Gain of Function (GOF)
No gain-of-function mutations reported for MRPL50.
Dominant Negative (DN)
No dominant-negative mechanisms described; MRPL50 mutations are typically 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) |
Pathways
• Mitochondrial translation (Reactome: R-HSA-5389840)
• Organelle biogenesis and maintenance (Reactome: R-HSA-1852241)
Protein Summary
MRPL50 is a 50S mitochondrial ribosomal protein that localizes to the mitochondrial matrix. It forms part of the large (39S) mitoribosomal subunit and interacts with rRNA and other ribosomal proteins to facilitate translation of mtDNA-encoded polypeptides. The protein is essential for the assembly of functional mitoribosomes and for oxidative phosphorylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRPL50 Knockout HEK293 Cell Line | EDJ-KQ2878 | Human | 54534 | Details Get a Quote |
| MRPL50 Knockout A-549 Cell Line | EDJ-KQ23924 | Human | 54534 | Details Get a Quote |
| MRPL50 Knockout HCT 116 Cell Line | EDJ-KQ23925 | Human | 54534 | Details Get a Quote |
| MRPL50 Knockout HeLa Cell Line | EDJ-KQ23926 | Human | 54534 | Details Get a Quote |
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