MRPS16: Mitochondrial Ribosomal Protein S16
A nuclear-encoded component of the mitochondrial small ribosomal subunit essential for intra-mitochondrial protein synthesis
Gene Information Card
| Symbol | MRPS16 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein S16 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q22.2 |
| NCBI Gene ID | 51021 ncbi.nlm.nih.gov/gene/51021 |
| Ensembl ID | ENSG00000182180 |
| UniProt ID | Q9Y3D3 |
| OMIM ID | 609204 |
| HGNC ID | 14048 |
| Aliases | C10orf7, COXPD2, MRP-S16, S16mt |
Description
MRPS16 encodes a 28S mitochondrial ribosomal small subunit protein (S16) that is nuclear-encoded and imported into mitochondria. It is a core component of the mitochondrial ribosome (mitoribosome) and is essential for mitochondrial translation of 13 oxidative phosphorylation (OXPHOS) subunits. Loss-of-function mutations cause combined OXPHOS deficiency, particularly affecting complexes I, III, IV, and V.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 2 (COXPD2) | Biallelic loss-of-function mutations in MRPS16 impair mitoribosome assembly, reducing translation of mtDNA-encoded OXPHOS subunits, leading to severe neonatal lactic acidosis and fatal encephalopathy. | OMIM #610498; PMID: 15186775 |
| Leigh syndrome spectrum | MRPS16 mutations can present with Leigh-like neuropathology due to mitochondrial energy failure. | ClinVar; PMID: 15186775 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 11.2 | Medium |
| Skeletal Muscle | 9.8 | Medium |
| Liver | 7.5 | Low |
| Brain | 6.3 | Low |
| Kidney | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.4 | High expression |
| HEK293 | 10.1 | Moderate expression |
| K562 | 8.3 | Moderate expression |
| HepG2 | 7.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.333_334delCT (p.Cys112*) | Frameshift nonsense | Reported in COXPD2 families | Loss of protein function; complete absence of S16 |
| c.237G>A (p.Trp79*) | Nonsense | Rare | Premature termination; loss of function |
Mutation functional classification
Loss of Function (LOF)
Biallelic nonsense/frameshift mutations cause complete loss of MRPS16 protein, leading to mitoribosome assembly failure and combined OXPHOS deficiency.
Gain of Function (GOF)
Not described.
Dominant Negative (DN)
Not described; disease is 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) |
Pathways
• Mitochondrial translation (REACT_383)
• Organelle biogenesis and maintenance (REACT_17015)
Protein Summary
MRPS16 is a 137-amino-acid protein (15.8 kDa) that forms part of the 28S small subunit of the mitochondrial ribosome. It is essential for the accurate initiation and elongation of mitochondrial translation. The protein is imported into the mitochondrial matrix via an N-terminal targeting sequence. Structural studies show it interacts with 12S rRNA and other small subunit proteins to stabilize the decoding center.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRPS16 Knockout HEK293 Cell Line | EDJ-KQ3393 | Human | 51021 | Details Get a Quote |
| MRPS16 Knockout A-549 Cell Line | EDJ-KQ25084 | Human | 51021 | Details Get a Quote |
| MRPS16 Knockout HeLa Cell Line | EDJ-KQ25086 | Human | 51021 | Details Get a Quote |
| MRPS16 Knockout HCT 116 Cell Line | EDJ-KQ23696 | Human | 51021 | Details Get a Quote |
