MRM3 (Mitochondrial rRNA Methyltransferase 3)
A mitochondrial 16S rRNA methyltransferase involved in mitochondrial translation and respiratory chain function.
Gene Information Card
| Symbol | MRM3 |
|---|---|
| Full Name | Mitochondrial rRNA Methyltransferase 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 55178 ncbi.nlm.nih.gov/gene/55178 |
| Ensembl ID | ENSG00000141510 |
| UniProt ID | Q9H2K8 |
| OMIM ID | 618539 |
| HGNC ID | 23286 |
| Aliases | RNMTL1, RP11-54O7.1 |
Description
MRM3 (mitochondrial rRNA methyltransferase 3) encodes a protein that localizes to the mitochondria and functions as an S-adenosylmethionine-dependent methyltransferase. It specifically methylates the 16S mitochondrial rRNA at position G1370, a modification essential for mitochondrial ribosome assembly and efficient mitochondrial translation. The enzyme is part of the mitochondrial ribosome large subunit biogenesis pathway and is required for oxidative phosphorylation complex formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency | Loss of MRM3 function impairs mitochondrial translation, leading to reduced respiratory chain complex activity. | PMID: 31073040 |
| Mitochondrial encephalopathy | Defects in mitochondrial protein synthesis due to MRM3 mutations cause neurological symptoms. | PMID: 31073040 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.2 | Medium |
| Liver | 8.1 | Medium |
| Brain | 6.3 | Low |
| Kidney | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.8 | High expression in cervical cancer cell line |
| HEK293 | 8.5 | Moderate expression in embryonic kidney cells |
| SH-SY5Y | 6.1 | Low expression in neuroblastoma cells |
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.287G>A (p.Arg96Gln) | Missense | Rare | Impaired methyltransferase activity |
| c.512T>C (p.Leu171Pro) | Missense | Rare | Structural disruption, reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg96Gln) reduce or abolish methyltransferase activity, impairing 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)
| • mitochondrion (GO:0005739) | • RNA methyltransferase activity (GO:0008173) |
| • RNA methylation (GO:0001510) | • methylation (GO:0032259) |
| • mitochondrial small ribosomal subunit (GO:0005763) |
Pathways
• Mitochondrial translation
• rRNA processing
• Oxidative phosphorylation
Protein Summary
The MRM3 protein is a 416-amino acid mitochondrial methyltransferase that catalyzes the 2'-O-methylation of guanosine 1370 in the 16S mitochondrial rRNA. This modification is critical for the structural integrity of the mitochondrial ribosome and for accurate mitochondrial translation. The protein contains a conserved methyltransferase domain and a mitochondrial targeting sequence. Defects in MRM3 lead to impaired assembly of respiratory chain complexes, resulting in mitochondrial dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRM3 Knockout HEK293 Cell Line | EDJ-KQ11134 | Human | 55178 | Details Get a Quote |
| MRM3 Knockout A-549 Cell Line | EDJ-KQ40365 | Human | 55178 | Details Get a Quote |
| MRM3 Knockout HCT 116 Cell Line | EDJ-KQ40366 | Human | 55178 | Details Get a Quote |
| MRM3 Knockout HeLa Cell Line | EDJ-KQ40367 | Human | 55178 | Details Get a Quote |
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