MRPS18A
Mitochondrial Ribosomal Protein S18A
Gene Information Card
| Symbol | MRPS18A |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein S18A |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 55168 ncbi.nlm.nih.gov/gene/55168 |
| Ensembl ID | ENSG00000111817 |
| UniProt ID | Q9NVS2 |
| OMIM ID | 611981 |
| HGNC ID | 14510 |
| Aliases | MRP-S18-1, S18mt-1, HSPC236 |
Description
MRPS18A encodes a 28S mitochondrial ribosomal small subunit protein (S18A) that is a component of the mitochondrial ribosome, which is responsible for the synthesis of mitochondrial-encoded proteins. This protein is essential for mitochondrial translation and oxidative phosphorylation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial respiratory chain deficiency | Defective mitochondrial translation due to MRPS18A dysfunction impairs complex I and IV assembly | PMID: 25609786 |
| Combined oxidative phosphorylation deficiency | Loss of MRPS18A leads to reduced mitochondrial protein synthesis and energy production | PMID: 25609786 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Liver | 8.7 | Medium |
| Brain | 6.5 | Low |
| Kidney | 9.1 | Medium |
| Skeletal Muscle | 11.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.5 | Cervical cancer cell line |
| HEK293 | 9.8 | Embryonic kidney cell line |
| K562 | 7.2 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96Gln) | Missense | <0.01% | Reduced mitochondrial translation |
| c.404C>T (p.Thr135Ile) | Missense | <0.01% | Impaired ribosome assembly |
Mutation functional classification
Loss of Function (LOF)
Missense mutations reduce protein stability or ribosome binding, leading to decreased mitochondrial translation.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial translation | • structural constituent of ribosome |
| • mitochondrial small ribosomal subunit | • ribosome biogenesis |
Pathways
• Mitochondrial translation
• Oxidative phosphorylation
Protein Summary
MRPS18A is a 18.5 kDa protein that localizes to the mitochondrial matrix and forms part of the small ribosomal subunit (28S). It interacts with other ribosomal proteins and mitochondrial mRNAs to facilitate translation of 13 core subunits of the electron transport chain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
