MRM1
Mitochondrial rRNA Methyltransferase 1
Gene Information Card
| Symbol | MRM1 |
|---|---|
| Full Name | Mitochondrial rRNA Methyltransferase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 79922 ncbi.nlm.nih.gov/gene/79922 |
| Ensembl ID | ENSG00000141510 |
| UniProt ID | Q5T160 |
| OMIM ID | 618539 |
| HGNC ID | 26270 |
| Aliases | FLJ22604, MGC138290, MGC138291 |
Description
MRM1 encodes a mitochondrial rRNA methyltransferase that catalyzes the 2'-O-methylation of guanosine at position 1145 in the 16S mitochondrial rRNA. This modification is essential for mitochondrial ribosome assembly and function, impacting mitochondrial translation and oxidative phosphorylation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial respiratory chain disorders | Defective rRNA methylation impairs mitochondrial translation and ATP production | ClinVar, OMIM |
| Combined oxidative phosphorylation deficiency | Loss-of-function mutations reduce mitochondrial ribosome stability | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 10.2 | Medium |
| Liver | 8.1 | Low |
| Brain | 6.4 | Low |
| Kidney | 7.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | High expression |
| HEK293 | 12.1 | Moderate expression |
| HepG2 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Loss of function |
| c.214C>T | Nonsense | <0.01% | Premature truncation |
| c.347G>A | Missense | <0.01% | Reduced enzymatic activity |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations impair methyltransferase activity, leading to defective mitochondrial translation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • RNA methyltransferase activity (GO:0008173) |
| • mitochondrion (GO:0005739) | • methylation (GO:0032259) |
| • rRNA base methylation (GO:0070475) |
Pathways
• Mitochondrial translation
• rRNA processing
Protein Summary
MRM1 is a 42 kDa mitochondrial protein localized to the mitochondrial matrix. It contains a conserved methyltransferase domain and specifically modifies the 16S rRNA at G1145. This modification is critical for the structural integrity of the mitochondrial large ribosomal subunit and efficient mitochondrial protein synthesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRM1 Knockout HEK293 Cell Line | EDJ-KQ11903 | Human | 79922 | Details Get a Quote |
| MRM1 Knockout A-549 Cell Line | EDJ-KQ40368 | Human | 79922 | Details Get a Quote |
| MRM1 Knockout HCT 116 Cell Line | EDJ-KQ40369 | Human | 79922 | Details Get a Quote |
| MRM1 Knockout HeLa Cell Line | EDJ-KQ40370 | Human | 79922 | Details Get a Quote |
