MRPS28: Mitochondrial Ribosomal Protein S28
A nuclear-encoded component of the mitochondrial small ribosomal subunit essential for mitochondrial translation and oxidative phosphorylation.
Gene Information Card
| Symbol | MRPS28 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein S28 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q21.11 |
| NCBI Gene ID | 28977 ncbi.nlm.nih.gov/gene/28977 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q9Y2Q9 |
| OMIM ID | 611990 |
| HGNC ID | 14513 |
| Aliases | MRP-S28, S28mt, COXPD47 |
Description
MRPS28 encodes a 28S mitochondrial ribosomal protein (MRP-S28) that is a component of the small (28S) subunit of the mitochondrial ribosome. This protein is nuclear-encoded and imported into mitochondria, where it participates in mitochondrial translation. Defects in MRPS28 are associated with combined oxidative phosphorylation deficiency type 47 (COXPD47), a severe multisystem disorder characterized by lactic acidosis, developmental delay, and respiratory chain complex deficiencies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 47 (COXPD47) | Loss-of-function mutations in MRPS28 impair mitochondrial ribosome assembly and translation, leading to reduced synthesis of mtDNA-encoded oxidative phosphorylation subunits. | OMIM #619382; ClinVar; PMID: 30055966 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 8.3 | Low |
| Brain | 7.1 | Low |
| Kidney | 9.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | Embryonic kidney cells |
| HeLa | 11.5 | Cervical carcinoma cells |
| HepG2 | 9.8 | Hepatocellular carcinoma cells |
| K562 | 8.1 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.322C>T (p.Arg108Trp) | Missense | Rare | Loss of function; impairs mitochondrial ribosome assembly |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein produced |
| c.442_443del (p.Glu148Argfs*2) | Frameshift | Rare | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
All reported pathogenic MRPS28 mutations are loss-of-function, leading to reduced mitochondrial translation and combined OXPHOS deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • mitochondrial small ribosomal subunit (GO:0005763) |
| • translation (GO:0006412) | • mitochondrial translation (GO:0032543) |
| • mitochondrion (GO:0005739) |
Pathways
• Mitochondrial translation (Reactome: R-HSA-5368287)
• Oxidative phosphorylation (KEGG: hsa00190)
• Organelle biogenesis and maintenance (Reactome: R-HSA-1852241)
Protein Summary
MRPS28 (Mitochondrial Ribosomal Protein S28) is a 28S mitochondrial ribosomal protein encoded by the nuclear genome. It is a component of the small subunit of the mitochondrial ribosome (mitoribosome), which translates the 13 mtDNA-encoded subunits of the oxidative phosphorylation system. The protein contains a conserved ribosomal protein S28 domain and is essential for mitoribosome assembly and function. Mutations in MRPS28 cause combined oxidative phosphorylation deficiency 47 (COXPD47), an autosomal recessive disorder with severe neurological and metabolic manifestations.
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