Gene Gene information from NCBI Gene database.
Entrez ID 55178
Gene name Mitochondrial rRNA methyltransferase 3
Gene symbol MRM3
Synonyms (NCBI Gene)
RMTL1RNMTL1
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
miRNA miRNA information provided by mirtarbase database.
119
miRTarBase ID miRNA Experiments Reference
MIRT695109 hsa-miR-6502-3p HITS-CLIP 23313552
MIRT518122 hsa-miR-6888-5p HITS-CLIP 23313552
MIRT518120 hsa-miR-4459 HITS-CLIP 23313552
MIRT530709 hsa-miR-4793-5p HITS-CLIP 23313552
MIRT518116 hsa-miR-4794 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0000451 Process RRNA 2'-O-methylation TAS
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 25416956, 32296183, 32838362, 34029587, 34232536, 36217030
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612600 18485 ENSG00000171861
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF00588 SpoU_methylase 209 400 SpoU rRNA Methylase family Family
Tissue specificity TISSUE SPECIFICITY: Expressed at same level in normal liver and hepatocarcinoma. {ECO:0000269|PubMed:12296377}.
Sequence
MAALVRPARFVVRPLLQVVQAWDLDARRWVRALRRSPVKVVFPSGEVVEQKRAPGKQPRK
APSEASAQEQREKQPLEESASRAPSTWEESGLRYDKAYPGDRRLSSVMTIVKSRPFREKQ
GKILLEGRRLISDALKAGAVPKMFFFSRLEYLKELPVDKLKGVSLIKVKFEDIKDWSDLV
TPQGIMGIFAKPDHVKMTYPKTQLQHSLPLLLICDNLRDPGNLGTILRSAAGAGCSKVLL
TKGCVDAWEPKVLRAGMGAHFRMPIINNLEWETVPNYLPPDTRVYVADNCGLYAQAEMSN
KASDHGWVCDQRVMKFHKYEEEEDVETGASQDWLPHVEVQSYDSDWTEAPAAVVIGGETY
GVSLESLQLAESTGGKRLLIPVVPGVDSLNSAMAASILLF
EGKRQLRGRAEDLSRDRSYH
Sequence length 420
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    rRNA modification in the mitochondrion
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
PERIPHERAL NEUROPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Diabetes Mellitus Type 2 Associate 27655316
★☆☆☆☆
Found in Text Mining only