MRPS14: Mitochondrial Ribosomal Protein S14
A nuclear-encoded component of the mitochondrial small ribosomal subunit essential for intra-mitochondrial protein synthesis.
Gene Information Card
| Symbol | MRPS14 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein S14 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q41 |
| NCBI Gene ID | 63931 ncbi.nlm.nih.gov/gene/63931 |
| Ensembl ID | ENSG00000197785 |
| UniProt ID | O60783 |
| OMIM ID | 611979 |
| HGNC ID | 14048 |
| Aliases | S14mt, MRP-S14, COXPD38 |
Description
MRPS14 encodes a 28S mitochondrial ribosomal small subunit protein (S14). As a component of the mitochondrial ribosome (mitoribosome), it participates in the translation of 13 mtDNA-encoded subunits of the oxidative phosphorylation (OXPHOS) system. The protein is nuclear-encoded, synthesized in the cytosol, and imported into the mitochondria. Defects in MRPS14 are associated with combined oxidative phosphorylation deficiency type 38 (COXPD38), a mitochondrial disorder characterized by multi-system involvement.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 38 (COXPD38) | Loss-of-function mutations impair mitoribosome assembly or stability, reducing translation of mtDNA-encoded OXPHOS subunits and leading to energy deficiency. | OMIM #611979; ClinVar; PMID: 26081659 |
| Mitochondrial complex I deficiency | Defective mitochondrial translation reduces assembly of complex I (NADH:ubiquinone oxidoreductase), a multi-subunit OXPHOS complex. | ClinVar; PMID: 26081659 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal muscle | 10.8 | High |
| Liver | 8.2 | Medium |
| Brain | 7.1 | Medium |
| Kidney | 6.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical carcinoma; high expression |
| HEK293 | 13.5 | Embryonic kidney; high expression |
| K562 | 9.8 | Leukemia; moderate expression |
| HepG2 | 8.5 | Hepatocellular carcinoma; moderate expression |
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 protein stability; reduced mitoribosome assembly |
| c.335G>A (p.Arg112Gln) | Missense | Rare | Impaired mitochondrial translation; OXPHOS deficiency |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein; severe COXPD38 phenotype |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations that disrupt protein folding, stability, or import into mitochondria, leading to reduced mitoribosome assembly and impaired mitochondrial translation.
Gain of Function (GOF)
No gain-of-function mutations reported for MRPS14.
Dominant Negative (DN)
No dominant-negative mutations reported; all pathogenic variants are 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-5389840)
• Respiratory electron transport (Reactome: R-HSA-611105)
• Organelle biogenesis and maintenance (Reactome: R-HSA-1852241)
Protein Summary
MRPS14 is a 14.5 kDa protein (128 amino acids) localized to the mitochondrial matrix. It is an integral component of the 28S small ribosomal subunit, where it interacts with 12S rRNA and other ribosomal proteins to form the decoding center. The protein contains a conserved ribosomal S14 domain. Structural studies indicate it is essential for the correct assembly and stability of the mitoribosomal small subunit. Without functional MRPS14, mitochondrial translation is severely compromised, leading to reduced synthesis of OXPHOS subunits and cellular energy deficit.
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