MRPS30: Mitochondrial Ribosomal Protein S30
A nuclear-encoded component of the mitochondrial small ribosomal subunit involved in mitochondrial translation and linked to cancer and metabolic disorders.
Gene Information Card
| Symbol | MRPS30 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein S30 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q11.2 |
| NCBI Gene ID | 10884 ncbi.nlm.nih.gov/gene/10884 |
| Ensembl ID | ENSG00000112972 |
| UniProt ID | Q9NP92 |
| OMIM ID | 611991 |
| HGNC ID | 14029 |
| Aliases | MRP-S30, DC47, S30mt, MGC117346 |
Description
MRPS30 encodes a 28S mitochondrial ribosomal protein 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. MRPS30 is essential for oxidative phosphorylation and cellular energy production. Mutations and altered expression have been implicated in cancer progression and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of MRPS30 is associated with poor prognosis; may promote mitochondrial biogenesis and cell proliferation. | PMID: 25691885 |
| Colorectal cancer | MRPS30 upregulation correlates with tumor stage and metastasis; involved in mitochondrial translation and apoptosis evasion. | PMID: 29753700 |
| Mitochondrial complex I deficiency | Loss-of-function mutations impair mitochondrial translation, leading to respiratory chain defects. | PMID: 25966643 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Liver | 8.3 | Medium |
| Skeletal muscle | 10.1 | High |
| Brain | 6.7 | Medium |
| Kidney | 9.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line; high expression |
| HEK293 | 11.8 | Embryonic kidney; moderate expression |
| MCF7 | 16.5 | Breast cancer; elevated expression |
| HepG2 | 9.1 | Hepatocellular carcinoma; moderate 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% | Unknown; predicted benign by SIFT |
| c.412C>T (p.Arg138Trp) | Missense | <0.01% | May affect protein stability; reported in COSMIC |
| c.523_524insA | Frameshift | <0.01% | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein and impaired mitochondrial translation.
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) |
| • translation (GO:0006412) |
Pathways
• Mitochondrial translation (Reactome: R-HSA-5368287)
• Organelle biogenesis and maintenance (Reactome: R-HSA-1852241)
Protein Summary
MRPS30 is a 30S mitochondrial ribosomal protein that forms part of the small subunit of the mitochondrial ribosome. It is synthesized in the cytosol and imported into the mitochondrial matrix. The protein is required for accurate initiation and elongation of mitochondrial translation, thereby supporting the synthesis of 13 essential subunits of the oxidative phosphorylation complexes. Altered MRPS30 expression is observed in several cancers and may influence tumor growth and metabolic reprogramming.
Related Services
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|---|---|---|---|---|
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