MRM3 (mitochondrial rRNA methyltransferase 3)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 55178 |
| Gene name | Mitochondrial rRNA methyltransferase 3 |
| Gene symbol | MRM3 |
| Synonyms (NCBI Gene) |
RMTL1RNMTL1
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| Chromosome | 17 |
| Chromosome location | 17p13.3 |
| Summary | Efficient translation of mitochondrial-derived transcripts requires proper assembly of the large subunit of the mitochondrial ribosome. Central to the biogenesis of this large subunit is the A-loop of mitochondrial 16S rRNA, which is modified by three rRN |
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miRNA
miRNA information provided by mirtarbase database.
119
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9HC36 | ||||||||||
| Protein name | rRNA methyltransferase 3, mitochondrial (EC 2.1.1.-) (16S rRNA (guanosine(1370)-2'-O)-methyltransferase) (16S rRNA [Gm1370] 2'-O-methyltransferase) (RNA methyltransferase-like protein 1) | ||||||||||
| Protein function | S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O-methylguanosine at position 1370 (Gm1370) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a conserved modification in the pep | ||||||||||
| PDB | 7OI6 | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed at same level in normal liver and hepatocarcinoma. {ECO:0000269|PubMed:12296377}. | ||||||||||
| Sequence |
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| Sequence length | 420 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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