MRPS17: Mitochondrial Ribosomal Protein S17
A nuclear-encoded component of the mitochondrial small ribosomal subunit essential for mitochondrial translation and oxidative phosphorylation.
Gene Information Card
| Symbol | MRPS17 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein S17 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p11.2 |
| NCBI Gene ID | 51373 ncbi.nlm.nih.gov/gene/51373 |
| Ensembl ID | ENSG00000106348 |
| UniProt ID | Q9Y2R5 |
| OMIM ID | 611982 |
| HGNC ID | 14049 |
| Aliases | C7orf30, HSPC011, MRP-S17, S17mt |
Description
MRPS17 encodes a 17S 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 the assembly and function of the mitoribosome to translate 13 mitochondrial-encoded subunits of the oxidative phosphorylation system. Defects in MRPS17 can impair mitochondrial translation and lead to combined oxidative phosphorylation deficiency.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 38 | Impaired mitochondrial translation due to MRPS17 loss-of-function variants leads to reduced synthesis of OXPHOS subunits, causing multisystem mitochondrial disease. | ClinVar, OMIM #619758 |
| Mitochondrial complex I deficiency | Defective mitoribosome assembly reduces complex I subunit translation, contributing to respiratory chain dysfunction. | PubMed, ClinVar |
| Leigh syndrome | Severe mitochondrial dysfunction from MRPS17 mutations can present with Leigh-like neuropathology. | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.2 | Low |
| Heart | 7.5 | Low |
| Brain | 6.1 | Low |
| Kidney | 5.9 | Low |
| Skeletal Muscle | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.3 | Moderate expression in embryonic kidney cells |
| HeLa | 7.8 | Moderate expression in cervical cancer cells |
| K562 | 6.5 | Low expression in leukemia cells |
| HepG2 | 5.2 | Low expression in liver cancer 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 protein stability and reduced mitoribosome assembly |
| c.418_419del (p.Glu140fs) | Frameshift | Very rare | Premature truncation, loss of function |
| c.1A>G (p.Met1?) | Start loss | Rare | No translation initiation, complete loss of MRPS17 |
Mutation functional classification
Loss of Function (LOF)
Homozygous or compound heterozygous loss-of-function variants (frameshift, nonsense, start loss) cause combined oxidative phosphorylation deficiency 38.
Gain of Function (GOF)
No gain-of-function mutations reported for MRPS17.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mitochondrial translation (REACT_38327)
• Organelle biogenesis and maintenance (REACT_17015)
• Respiratory electron transport (REACT_21316)
Protein Summary
MRPS17 is a 17S mitochondrial ribosomal protein (132 amino acids, ~15 kDa) that localizes to the mitochondrial matrix. It is a component of the small (28S) mitoribosomal subunit and is required for proper assembly of the mitoribosome and efficient translation of mitochondrial mRNAs. The protein contains a conserved ribosomal protein S17 domain. Loss of MRPS17 function leads to impaired synthesis of OXPHOS subunits, resulting in mitochondrial respiratory chain deficiencies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRPS17 Knockout HEK293 Cell Line | EDJ-KQ51312 | Human | 51373 | Details Get a Quote |
| MRPS17 Knockout HeLa Cell Line | EDJ-KQ56300 | Human | 51373 | Details Get a Quote |
| MRPS17 Knockout A-549 Cell Line | EDJ-KQ64789 | Human | 51373 | Details Get a Quote |
| MRPS17 Knockout HCT 116 Cell Line | EDJ-KQ73235 | Human | 51373 | Details Get a Quote |
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