MRPL54: Mitochondrial Ribosomal Protein L54
A component of the mitochondrial large ribosomal subunit involved in mitochondrial translation
Gene Information Card
| Symbol | MRPL54 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein L54 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 116541 ncbi.nlm.nih.gov/gene/116541 |
| Ensembl ID | ENSG00000183747 |
| UniProt ID | Q6P161 |
| OMIM ID | 611823 |
| HGNC ID | 16677 |
| Aliases | MRP-L54, L54mt, 39S ribosomal protein L54, mitochondrial |
Description
MRPL54 encodes a 39S subunit protein of the mitochondrial ribosome. Mitochondrial ribosomes (mitoribosomes) translate mitochondrial mRNAs encoded by the mitochondrial genome. MRPL54 is a component of the large (39S) subunit and is essential for mitochondrial protein synthesis, which is critical for oxidative phosphorylation and cellular energy production.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency | Deficiency in mitochondrial translation due to MRPL54 dysfunction impairs OXPHOS complex assembly | ClinVar: pathogenic variants reported in patients with mitochondrial encephalopathy and lactic acidosis |
| Mitochondrial encephalopathy | Impaired mitochondrial protein synthesis leads to energy deficit in neural tissues | ClinVar: missense variants associated with Leigh-like syndrome |
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 in cervical cancer cell line |
| HEK293 | 11.2 | Moderate expression in embryonic kidney cells |
| K562 | 9.8 | Moderate expression in leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | Missense | Rare | Reduced mitochondrial translation efficiency |
| c.404C>T (p.Thr135Met) | Missense | Rare | Impaired ribosome assembly |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Start loss and missense variants that reduce protein stability or ribosome assembly lead to loss of mitochondrial translation function.
Gain of Function (GOF)
No gain-of-function mutations reported for MRPL54.
Dominant Negative (DN)
No dominant-negative mutations reported for MRPL54.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • mitochondrial large ribosomal subunit (GO:0005763) |
| • mitochondrial translation (GO:0032543) | • translation (GO:0006412) |
Pathways
• Mitochondrial translation (Reactome: R-HSA-5389840)
• Organelle biogenesis and maintenance (Reactome: R-HSA-1852241)
Protein Summary
MRPL54 is a 39S mitochondrial ribosomal protein that forms part of the large subunit of the mitoribosome. 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 essential OXPHOS subunits encoded by the mitochondrial genome. Defects in MRPL54 can lead to combined oxidative phosphorylation deficiency and mitochondrial encephalopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRPL54 Knockout HEK293 Cell Line | EDJ-KQ7579 | Human | 116541 | Details Get a Quote |
| MRPL54 Knockout HCT 116 Cell Line | EDJ-KQ32893 | Human | 116541 | Details Get a Quote |
| MRPL54 Knockout HeLa Cell Line | EDJ-KQ32894 | Human | 116541 | Details Get a Quote |
| MRPL54 Knockout A-549 Cell Line | EDJ-KQ66483 | Human | 116541 | Details Get a Quote |
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