MRPS23: Mitochondrial Ribosomal Protein S23
A nuclear-encoded component of the mitochondrial small ribosomal subunit involved in mitochondrial translation and oxidative phosphorylation.
Gene Information Card
| Symbol | MRPS23 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein S23 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q22 |
| NCBI Gene ID | 51649 ncbi.nlm.nih.gov/gene/51649 |
| Ensembl ID | ENSG00000108839 |
| UniProt ID | Q9Y3D9 |
| OMIM ID | 611985 |
| HGNC ID | 14511 |
| Aliases | C17orf12, HSPC329, MRP-S23, S23mt |
Description
MRPS23 encodes a 28S mitochondrial ribosomal protein that is a component of the mitochondrial small ribosomal subunit. This protein is essential for mitochondrial translation, enabling the synthesis of 13 subunits of the oxidative phosphorylation (OXPHOS) system encoded by the mitochondrial genome. MRPS23 is nuclear-encoded and imported into mitochondria. Defects in MRPS23 can impair mitochondrial protein synthesis, leading to OXPHOS deficiency and cellular energy deficits.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency | Impaired mitochondrial translation due to MRPS23 dysfunction reduces synthesis of OXPHOS subunits, leading to energy deficiency. | PMID: 29300826 |
| Hepatocellular carcinoma | MRPS23 overexpression may promote tumor growth by enhancing mitochondrial translation and OXPHOS activity. | PMID: 31073015 |
| Breast cancer | MRPS23 upregulation associated with poor prognosis; potential role in mitochondrial biogenesis and metabolic reprogramming. | PMID: 29719228 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 10.8 | Medium |
| Kidney | 9.2 | Medium |
| Brain | 6.1 | Low |
| Skeletal Muscle | 8.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.3 | Liver cancer cell line |
| HeLa | 11.0 | Cervical cancer cell line |
| K562 | 9.5 | Leukemia cell line |
| HEK293 | 10.2 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.382C>T (p.Arg128Trp) | Missense | Rare | Loss of function; reduced mitochondrial translation |
| c.463G>A (p.Gly155Ser) | Missense | Rare | Impaired ribosomal assembly |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish MRPS23 protein function, impairing mitochondrial translation and OXPHOS.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • mitochondrial small ribosomal subunit (GO:0005763) |
| • mitochondrial translation (GO:0032543) | • mitochondrion (GO:0005739) |
Pathways
• Mitochondrial translation (Reactome: R-HSA-5368287)
• Oxidative phosphorylation (KEGG: hsa00190)
Protein Summary
MRPS23 is a 23 kDa protein (200 amino acids) localized to the mitochondrial matrix. It is a component of the 28S small ribosomal subunit, where it participates in decoding mitochondrial mRNAs. The protein contains a conserved ribosomal protein S23 domain. MRPS23 interacts with other mitochondrial ribosomal proteins and is essential for the assembly and function of the mitochondrial ribosome.
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