MRPL55: Mitochondrial Ribosomal Protein L55
A core component of the mitochondrial large ribosomal subunit involved in intra-mitochondrial protein synthesis.
Gene Information Card
| Symbol | MRPL55 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein L55 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.13 |
| NCBI Gene ID | 128308 ncbi.nlm.nih.gov/gene/128308 |
| Ensembl ID | ENSG00000143614 |
| UniProt ID | Q7Z7F7 |
| OMIM ID | 611859 |
| HGNC ID | 16679 |
| Aliases | L55mt, MRP-L55, bL31m |
Description
MRPL55 encodes a 39S subunit protein of the mitochondrial ribosome. This protein is a component of the large (39S) mitochondrial ribosomal subunit and is involved in the synthesis of proteins encoded by the mitochondrial genome. Mitochondrial ribosomes are essential for oxidative phosphorylation and cellular energy production.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency | Defective mitochondrial translation due to MRPL55 mutations impairs assembly of respiratory chain complexes | ClinVar: Pathogenic variants reported in patients with mitochondrial encephalopathy and lactic acidosis |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 8.3 | Low |
| Brain | 6.7 | Low |
| Kidney | 7.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | High expression in embryonic kidney cells |
| HeLa | 11.5 | Moderate expression in cervical cancer cells |
| K562 | 9.8 | Moderate expression in leukemia cells |
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.1A>G (p.Met1?) | Start loss | Very rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations impair mitochondrial ribosomal assembly and translation, leading to combined oxidative phosphorylation deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported for MRPL55.
Dominant Negative (DN)
No dominant-negative mutations reported for MRPL55.
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-5368287)
• Organelle biogenesis and maintenance (Reactome: R-HSA-1852241)
Protein Summary
MRPL55 is a 39S mitochondrial ribosomal protein (bL31m) that forms part of the large subunit of the mitochondrial ribosome. It is essential for the translation of 13 mitochondrial-encoded subunits of the oxidative phosphorylation system. The protein localizes to the mitochondrial matrix and interacts with other ribosomal proteins to ensure proper ribosome assembly and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRPL55 Knockout HEK293 Cell Line | EDJ-KQ9157 | Human | 128308 | Details Get a Quote |
| MRPL55 Knockout HCT 116 Cell Line | EDJ-KQ35704 | Human | 128308 | Details Get a Quote |
| MRPL55 Knockout HeLa Cell Line | EDJ-KQ35705 | Human | 128308 | Details Get a Quote |
| MRPL55 Knockout A-549 Cell Line | EDJ-KQ66716 | Human | 128308 | Details Get a Quote |
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