MRPL28: Mitochondrial Ribosomal Protein L28
A nuclear-encoded component of the mitochondrial large ribosomal subunit involved in mitochondrial translation and oxidative phosphorylation.
Gene Information Card
| Symbol | MRPL28 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein L28 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 10573 ncbi.nlm.nih.gov/gene/10573 |
| Ensembl ID | ENSG00000103197 |
| UniProt ID | Q13084 |
| OMIM ID | 611822 |
| HGNC ID | 14487 |
| Aliases | MRP-L28, L28mt, 39S ribosomal protein L28, mitochondrial |
Description
MRPL28 encodes a 39S subunit protein of the mitochondrial ribosome. This nuclear-encoded protein is imported into the mitochondria and assembles into the large ribosomal subunit, where it participates in mitochondrial translation of 13 essential subunits of the oxidative phosphorylation (OXPHOS) system. MRPL28 is a component of the mitochondrial large ribosomal subunit (mt-LSU) and is required for efficient mitochondrial protein synthesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency (COXPD) | Defects in mitochondrial translation due to MRPL28 mutations impair OXPHOS complex assembly, leading to energy deficiency. | ClinVar; OMIM |
| Mitochondrial complex I deficiency | Impaired translation of mtDNA-encoded complex I subunits (ND1-ND6) due to ribosomal dysfunction. | ClinVar; OMIM |
| Leigh syndrome | Severe mitochondrial dysfunction from defective translation, causing neurodegeneration. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 8.2 | Medium |
| Brain | 7.1 | Medium |
| Kidney | 6.9 | Medium |
| Testis | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | High expression |
| HEK293 | 12.1 | High expression |
| K562 | 9.8 | Medium expression |
| HepG2 | 8.5 | Medium expression |
| SH-SY5Y | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | Missense | <0.01% | Reduced mitochondrial translation efficiency |
| c.412C>T (p.Arg138Trp) | Missense | <0.01% | Impaired ribosome assembly |
| c.523delG (p.Ala175Profs*12) | Frameshift | <0.01% | Loss of function, truncated protein |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated or absent MRPL28 protein, reducing mitochondrial ribosome assembly and translation.
Gain of Function (GOF)
No gain-of-function mutations reported for MRPL28.
Dominant Negative (DN)
No dominant-negative mutations reported; MRPL28 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) |
| • translation (GO:0006412) |
Pathways
• Mitochondrial translation (REACT_38328)
• Organelle biogenesis and maintenance (REACT_111217)
• Respiratory electron transport (REACT_111045)
Protein Summary
MRPL28 is a 261-amino acid protein (29.5 kDa) localized to the mitochondrial matrix. It is a component of the 39S large ribosomal subunit, binding to the 16S rRNA and other ribosomal proteins to form the peptidyltransferase center. The protein contains a mitochondrial targeting sequence at its N-terminus that is cleaved upon import. MRPL28 is essential for accurate and efficient translation of mtDNA-encoded proteins, particularly those of the OXPHOS complexes I, III, IV, and V.
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