MRPS31: Mitochondrial Ribosomal Protein S31
A nuclear-encoded component of the mitochondrial small ribosomal subunit essential for mitochondrial translation and oxidative phosphorylation.
Gene Information Card
| Symbol | MRPS31 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein S31 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q14.11 |
| NCBI Gene ID | 10240 ncbi.nlm.nih.gov/gene/10240 |
| Ensembl ID | ENSG00000102738 |
| UniProt ID | Q92665 |
| OMIM ID | 611984 |
| HGNC ID | 14495 |
| Aliases | MRP-S31, S31mt, IMAGE:3455202 |
Description
MRPS31 encodes a 28S mitochondrial ribosomal protein that is a component of the small (28S) subunit of the mitochondrial ribosome. The protein is nuclear-encoded and imported into mitochondria, where it participates in mitochondrial translation. MRPS31 is essential for the assembly and function of the mitochondrial ribosome, and its dysfunction can impair oxidative phosphorylation and lead to mitochondrial disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency | Loss of MRPS31 function reduces mitochondrial translation, impairing OXPHOS complex assembly | ClinVar, OMIM |
| Mitochondrial respiratory chain disorders | Defective mitochondrial protein synthesis due to MRPS31 mutations | NCBI Gene, UniProt |
| Cancer (potential) | Altered MRPS31 expression may affect mitochondrial metabolism in tumors | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 10.8 | Medium |
| Liver | 8.2 | Medium |
| Kidney | 7.1 | Medium |
| Brain | 6.5 | Low |
| Lung | 5.9 | Low |
| Pancreas | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line |
| HEK293 | 13.1 | Embryonic kidney cell line |
| K562 | 11.5 | Leukemia cell line |
| HepG2 | 9.8 | Hepatocellular carcinoma cell line |
| A549 | 8.4 | Lung carcinoma cell line |
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.382C>T (p.Arg128Trp) | Missense | <0.01% | Impaired protein stability |
| c.550G>A (p.Gly184Ser) | Missense | <0.01% | Reduced mitochondrial translation |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations that disrupt MRPS31 protein expression or stability lead to impaired mitochondrial ribosome assembly and reduced translation of mtDNA-encoded OXPHOS subunits.
Gain of Function (GOF)
No gain-of-function mutations have been reported for MRPS31.
Dominant Negative (DN)
No dominant-negative mutations have been described for MRPS31.
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)
• Organelle biogenesis and maintenance (Reactome: R-HSA-1852241)
Protein Summary
MRPS31 is a 37.5 kDa protein (333 amino acids) that localizes to the mitochondrial matrix. It is a component of the 28S small ribosomal subunit, where it interacts with 12S rRNA and other ribosomal proteins to form the mitochondrial ribosome. The protein contains a conserved ribosomal protein S31 domain and is essential for accurate initiation and elongation of mitochondrial translation. MRPS31 is ubiquitously expressed, with highest levels in tissues with high energy demand such as heart and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRPS31 Knockout HEK293 Cell Line | EDJ-KQ50946 | Human | 10240 | Details Get a Quote |
| MRPS31 Knockout HeLa Cell Line | EDJ-KQ55354 | Human | 10240 | Details Get a Quote |
| MRPS31 Knockout A-549 Cell Line | EDJ-KQ63834 | Human | 10240 | Details Get a Quote |
| MRPS31 Knockout HCT 116 Cell Line | EDJ-KQ72295 | Human | 10240 | Details Get a Quote |
