MRPS18C
Mitochondrial Ribosomal Protein S18C
Gene Information Card
| Symbol | MRPS18C |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein S18C |
| Gene Type | Protein-coding |
| Chromosomal Location | 4q21.23 |
| NCBI Gene ID | 51023 ncbi.nlm.nih.gov/gene/51023 |
| Ensembl ID | ENSG00000138614 |
| UniProt ID | Q9Y3D5 |
| OMIM ID | 611981 |
| HGNC ID | 14516 |
| Aliases | MRP-S18C, S18C, HSPC182 |
Description
MRPS18C encodes a component of the mitochondrial small ribosomal subunit (28S). This protein is essential for mitochondrial translation, contributing to the synthesis of proteins encoded by the mitochondrial genome. The gene is located on chromosome 4q21.23 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined Oxidative Phosphorylation Deficiency | Deficiency in mitochondrial translation due to MRPS18C mutations leads to impaired oxidative phosphorylation. | PMID: 25966631 |
| Mitochondrial Complex I Deficiency | Loss of MRPS18C function reduces complex I assembly and activity. | PMID: 25966631 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Liver | 8.7 | Low |
| Brain | 6.5 | Low |
| Skeletal Muscle | 10.1 | Medium |
| Kidney | 9.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| HEK293 | 13.8 | Embryonic kidney cell line |
| K562 | 11.5 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.322C>T (p.Arg108Trp) | Missense | Rare | Reduced protein stability and mitochondrial translation |
| c.418G>A (p.Gly140Ser) | Missense | Rare | Impaired ribosome assembly |
Mutation functional classification
Loss of Function (LOF)
Missense mutations reduce MRPS18C stability and mitochondrial translation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial translation | • Ribosome biogenesis |
| • Structural constituent of ribosome | • Mitochondrion |
Pathways
• Mitochondrial translation
• Oxidative phosphorylation
Protein Summary
MRPS18C is a 142-amino acid protein that forms part of the mitochondrial small ribosomal subunit. It localizes to the mitochondrion and is required for efficient translation of mitochondrial mRNAs, particularly those encoding subunits of the electron transport chain.
Related Services
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|---|---|---|---|---|
| No Data | ||||
