Gene Gene information from NCBI Gene database.
Entrez ID 4234
Gene name Methyltransferase 1, tRNA methylguanosine
Gene symbol METTL1
Synonyms (NCBI Gene)
C12orf1TRM8TRMT8YDL201w
Chromosome 12
Chromosome location 12q14.1
Summary This gene is similar in sequence to the S. cerevisiae YDL201w gene. The gene product contains a conserved S-adenosylmethionine-binding motif and is inactivated by phosphorylation. Alternative splice variants encoding different protein isoforms have been d
miRNA miRNA information provided by mirtarbase database.
77
miRTarBase ID miRNA Experiments Reference
MIRT656307 hsa-miR-136-5p HITS-CLIP 23824327
MIRT656306 hsa-miR-1277-3p HITS-CLIP 23824327
MIRT656305 hsa-miR-885-5p HITS-CLIP 23824327
MIRT656303 hsa-miR-1470 HITS-CLIP 23824327
MIRT656304 hsa-miR-4667-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0000049 Function TRNA binding IEA
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 15861136, 16189514, 25416956, 26751069, 31515488, 32296183, 33961781
GO:0005634 Component Nucleus IDA 15861136
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604466 7030 ENSG00000037897
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UBP6
Protein name tRNA (guanine-N(7)-)-methyltransferase (EC 2.1.1.33) (Methyltransferase-like protein 1) (mRNA (guanine-N(7)-)-methyltransferase) (EC 2.1.1.-) (miRNA (guanine-N(7)-)-methyltransferase) (EC 2.1.1.-) (tRNA (guanine(46)-N(7))-methyltransferase) (tRNA(m7G46)-m
Protein function Catalytic component of METTL1-WDR4 methyltransferase complex that mediates the formation of N(7)-methylguanine in a subset of RNA species, such as tRNAs, mRNAs and microRNAs (miRNAs) (PubMed:12403464, PubMed:31031083, PubMed:31031084, PubMed:365
PDB 3CKK , 7OGJ , 7PL1 , 7U20 , 8CTH , 8CTI , 8D58 , 8D59 , 8D5B , 8D9K , 8D9L , 8EG0 , 8H0N
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02390 Methyltransf_4 76 254 Putative methyltransferase Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10329009}.
Sequence
Sequence length 276
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
Abnormality of neuronal migration Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP II Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ameloblastoma Ameloblastoma Pubtator 38309318 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 40683927 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 36599985, 36733406, 37516825 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36661684, 37528384 Associate
★☆☆☆☆
Found in Text Mining only
Cataract Congenital Nuclear Autosomal Recessive 2 Congenital cataract Pubtator 36599982 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 31866582 Inhibit
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 32135185 Associate
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy Pubtator 40658715 Associate
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Esophageal squamous cell carcinoma Pubtator 35574843 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 36733406 Associate
★☆☆☆☆
Found in Text Mining only