MRPS33: Mitochondrial Ribosomal Protein S33
A nuclear-encoded component of the mitochondrial small ribosomal subunit essential for intra-mitochondrial protein synthesis
Gene Information Card
| Symbol | MRPS33 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein S33 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q34 |
| NCBI Gene ID | 51650 ncbi.nlm.nih.gov/gene/51650 |
| Ensembl ID | ENSG00000106682 |
| UniProt ID | Q9Y291 |
| OMIM ID | 611994 |
| HGNC ID | 16630 |
| Aliases | C7orf30, MRP-S33, S33mt |
Description
MRPS33 encodes a 28S mitochondrial ribosomal small subunit protein. The protein is nuclear-encoded and imported into mitochondria, where it assembles into the mitochondrial ribosome (mitoribosome) to facilitate translation of 13 mtDNA-encoded oxidative phosphorylation (OXPHOS) subunits. MRPS33 is essential for mitochondrial protein synthesis and cellular energy production.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency | Loss of MRPS33 impairs mitoribosome assembly, reducing translation of mtDNA-encoded OXPHOS subunits, leading to energy failure. | ClinVar, OMIM |
| Mitochondrial complex I deficiency | Defective mitochondrial translation due to MRPS33 mutations decreases complex I assembly and activity. | ClinVar, OMIM |
| Leigh syndrome | MRPS33 mutations have been reported in patients with Leigh-like phenotypes, associated with mitochondrial dysfunction. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 7.5 | Low |
| Brain | 6.2 | Low |
| Kidney | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.1 | Ubiquitous expression |
| HEK293 | 13.5 | Ubiquitous expression |
| K562 | 11.2 | Ubiquitous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.155T>C (p.Leu52Pro) | Missense | Rare | Impaired protein stability and mitoribosome assembly |
| c.218G>A (p.Arg73His) | Missense | Rare | Reduced mitochondrial translation |
Mutation functional classification
Loss of Function (LOF)
Homozygous or compound heterozygous missense/nonsense mutations that disrupt MRPS33 stability or mitoribosome incorporation lead to loss of mitochondrial translation and OXPHOS deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported for MRPS33.
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-5368287)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
MRPS33 is a 28S mitochondrial ribosomal small subunit protein (mitoribosomal protein S33). It is synthesized in the cytosol and imported into the mitochondrial matrix, where it assembles with 12S rRNA and other small subunit proteins to form the 28S small subunit of the mitoribosome. The mitoribosome translates 13 mtDNA-encoded mRNAs, all of which are subunits of the OXPHOS complexes I, III, IV, and V. Loss of MRPS33 function leads to impaired mitochondrial translation, reduced OXPHOS assembly, and cellular energy deficiency, manifesting as mitochondrial disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRPS33 Knockout HEK293 Cell Line | EDJ-KQ51339 | Human | 51650 | Details Get a Quote |
| MRPS33 Knockout HeLa Cell Line | EDJ-KQ56342 | Human | 51650 | Details Get a Quote |
| MRPS33 Knockout A-549 Cell Line | EDJ-KQ64830 | Human | 51650 | Details Get a Quote |
| MRPS33 Knockout HCT 116 Cell Line | EDJ-KQ73275 | Human | 51650 | Details Get a Quote |
