Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
4234
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Methyltransferase 1, tRNA methylguanosine |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
METTL1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
C12orf1, TRM8, TRMT8, YDL201w |
Chromosome
Chromosome number
|
12 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
12q14.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
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 |
UniProt ID |
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
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Multiple sclerosis |
Multiple Sclerosis |
rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544 View all (4 more) |
19525955 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Multiple Sclerosis |
Multiple Sclerosis |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma of Lung |
Associate
|
37116150 |
Ameloblastoma |
Associate
|
38309318 |
Breast Neoplasms |
Associate
|
40683927 |
Carcinogenesis |
Associate
|
36599985, 36733406, 37516825 |
Carcinoma Hepatocellular |
Associate
|
36661684, 37528384 |
Cataract Congenital Nuclear Autosomal Recessive 2 |
Associate
|
36599982 |
Central Nervous System Vascular Malformations |
Associate
|
36599982 |
Colorectal Neoplasms |
Inhibit
|
31866582 |
Colorectal Neoplasms |
Associate
|
32135185 |
Epilepsy |
Associate
|
40658715 |
Esophageal Squamous Cell Carcinoma |
Associate
|
35574843 |
Glioma |
Associate
|
36733406 |
Inflammation |
Associate
|
37516825 |
Lung Neoplasms |
Associate
|
34371184 |
Melanoma Cutaneous Malignant |
Associate
|
35771136 |
Multiple Sclerosis |
Associate
|
23160276 |
Neoplasms |
Associate
|
31866582, 34285249, 34416137, 36599985, 36635678, 37516825, 39198433, 39216043, 39369912, 40683927 |
Neoplasms |
Inhibit
|
32135185 |
Neoplasms |
Stimulate
|
34352207 |
Ovarian Neoplasms |
Associate
|
36545327 |
Prostatic Neoplasms |
Associate
|
37516825, 37599359 |
Prostatic Neoplasms Castration Resistant |
Stimulate
|
37599359 |
Stomach Neoplasms |
Associate
|
33589575, 37863651 |
Urinary Bladder Neoplasms |
Associate
|
34936728 |
|