MRPS34
Mitochondrial Ribosomal Protein S34
Gene Information Card
| Symbol | MRPS34 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein S34 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 65993 ncbi.nlm.nih.gov/gene/65993 |
| Ensembl ID | ENSG00000140990 |
| UniProt ID | P82930 |
| OMIM ID | 611994 |
| HGNC ID | 16618 |
| Aliases | C16orf91, HSPC015, MRP-S34, S34mt |
Description
MRPS34 encodes a small subunit (28S) mitochondrial ribosomal protein that is a component of the mitochondrial ribosome (mitoribosome). Mitoribosomes translate mitochondrial DNA-encoded proteins essential for oxidative phosphorylation. Mutations in MRPS34 cause combined oxidative phosphorylation deficiency 32 (COXPD32), a severe multisystem disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 32 (COXPD32) | Loss-of-function mutations impair mitoribosome assembly and mitochondrial translation, reducing OXPHOS complex activity. | PMID: 28137950, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 5.2 | Low |
| Heart | 4.8 | Low |
| Brain | 3.9 | Low |
| Kidney | 4.1 | Low |
| Skeletal Muscle | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.1 | Moderate expression |
| HeLa | 5.4 | Moderate expression |
| K562 | 4.7 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.322_323delAG | Frameshift | Rare | Loss of function; associated with COXPD32 |
| c.2T>C (p.Met1?) | Start loss | Rare | Loss of function; associated with COXPD32 |
| c.370C>T (p.Arg124*) | Nonsense | Rare | Loss of function; associated with COXPD32 |
Mutation functional classification
Loss of Function (LOF)
Frameshift, nonsense, and start-loss mutations cause loss of function by disrupting mitoribosome assembly and mitochondrial translation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial translation (GO:0032543) | • structural constituent of ribosome (GO:0003735) |
| • mitochondrial small ribosomal subunit (GO:0005763) |
Pathways
• Mitochondrial translation (Reactome: R-HSA-5368287)
• Organelle biogenesis and maintenance (Reactome: R-HSA-1852241)
Protein Summary
MRPS34 is a 27.5 kDa protein (249 amino acids) localized to the mitochondrial matrix. It is a component of the 28S small ribosomal subunit, essential for decoding mitochondrial mRNAs. The protein contains a conserved ribosomal protein S7 domain and interacts with other mitoribosomal proteins to form the small subunit.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
