MRPS35: Mitochondrial Ribosomal Protein S35
A nuclear-encoded component of the mitochondrial small ribosomal subunit involved in mitochondrial translation and cellular energy metabolism.
Gene Information Card
| Symbol | MRPS35 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein S35 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p11.22 |
| NCBI Gene ID | 60488 ncbi.nlm.nih.gov/gene/60488 |
| Ensembl ID | ENSG00000161714 |
| UniProt ID | P82673 |
| OMIM ID | 611986 |
| HGNC ID | 16638 |
| Aliases | MRP-S35, S35mt, HSPC189 |
Description
MRPS35 encodes a 28S mitochondrial ribosomal protein that is a component of the small ribosomal subunit (mt-SSU). This protein is nuclear-encoded and imported into mitochondria, where it participates in mitochondrial translation. MRPS35 is essential for the assembly and stability of the mitochondrial ribosome, and its dysfunction can impair oxidative phosphorylation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency | Impaired mitochondrial translation due to MRPS35 loss-of-function variants | PMID: 28934388 |
| Mitochondrial complex I deficiency | Reduced assembly of mt-SSU leading to defective complex I biogenesis | PMID: 28934388 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Brain | 6.1 | Low |
| Skeletal Muscle | 10.2 | Medium |
| Kidney | 9.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| HEK293 | 13.8 | High expression |
| HepG2 | 11.4 | Medium expression |
| K562 | 9.1 | Medium 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 and reduced mitochondrial translation |
| c.488_489del (p.Glu163Glyfs*12) | Frameshift | Rare | Loss of function due to premature truncation |
Mutation functional classification
Loss of Function (LOF)
Reported in combined oxidative phosphorylation deficiency; leads to 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) |
Pathways
• Mitochondrial translation (REACT_383)
• Organelle biogenesis and maintenance
Protein Summary
MRPS35 is a 323-amino-acid protein (UniProt P82673) that localizes to the mitochondrial matrix. It is a component of the 28S small ribosomal subunit and is required for accurate initiation and elongation of mitochondrial protein synthesis. The protein contains a conserved ribosomal protein S35 domain and is essential for the assembly of the mitochondrial ribosome.
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|---|---|---|---|---|
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