TRMT1
entrez
55621
canonical
uniprot
Q9NXH9
canonical
ensembl
ENSG00000104907
resolver
ensp
ENSP00000221504
resolver
ensp
ENSP00000350352
resolver
ensp
ENSP00000416149
resolver
ensp
ENSP00000577353
resolver
genesymbol
TRMT1
resolver
hgnc
HGNC:25980
resolver
uniprot
O76103
resolver
uniprot
Q548Y5
resolver
uniprot
Q8WVA6
resolver
uniprot_entry
TRM1_HUMAN
resolver
uniprot_sec
O76103
resolver
uniprot_sec
Q548Y5
resolver
uniprot_sec
Q8WVA6
resolver
amino_acid_sequence
MQGSSLWLSLTFRSARVLSRARFFEWQSPGLPNTAAMENGTGPYGEERPREVQETTVTEGAAKIAFPSANEVFYNPVQEFNRDLTCAVITEFARIQLGAKGIQIKVPGEKDTQKVVVDLSEQEEEKVELKESENLASGDQPRTAAVGEICEEGLHVLEGLAASGLRSIRFALEVPGLRSVVANDASTRAVDLIRRNVQLNDVAHLVQPSQADARMLMYQHQRVSERFDVIDLDPYGSPATFLDAAVQAVSEGGLLCVTCTDMAVLAGNSGETCYSKYGAMALKSRACHEMALRIVLHSLDLRANCYQRFVVPLLSISADFYVRVFVRVFTGQAKVKASASKQALVFQCVGCGAFHLQRLGKASGVPSGRAKFSAACGPPVTPECEHCGQRHQLGGPMWAEPIHDLDFVGRVLEAVSANPGRFHTSERIRGVLSVITEELPDVPLYYTLDQLSSTIHCNTPSLLQLRSALLHADFRVSLSHACKNAVKTDAPASALWDIMRCWEKECPVKRERLSETSPAFRILSVEPRLQANFTIREDANPSSRQRGLKRFQANPEANWGPRPRARPGGKAADEAMEERRRLLQNKRKEPPEDVAQRAARLKTFPCKRFKEGTCQRGDQCCYSHSPPTPRVSADAAPDCPETSNQTPPGPGAAAGPGID
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal recessive 68 (MRT68) [MIM:618302]: A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:21937992, ECO:0000269|PubMed:26308914, ECO:0000269|PubMed:30289604, ECO:0000269|PubMed:31898845, ECO:0000269|PubMed:39786990}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.1.216
uniprot
proteins
function
FUNCTION: Dimethylates a single guanine residue at position 26 of most nuclear- and mitochondrial-encoded tRNAs using S-adenosyl-L-methionine as donor of the methyl groups (PubMed:10982862, PubMed:28784718, PubMed:37204604, PubMed:39786990). tRNA guanine(26)-dimethylation is required for redox homeostasis and ensure proper cellular proliferation and oxidative stress survival (PubMed:28784718). {ECO:0000269|PubMed:10982862, ECO:0000269|PubMed:28784718, ECO:0000269|PubMed:37204604, ECO:0000269|PubMed:39786990}.
uniprot
proteins
mass_dalton
72234
uniprot
proteins
mutagenesis
MUTAGEN 233; /note="D->A: Abolished tRNA guanine-dimethyltransferase activity."; /evidence="ECO:0000269|PubMed:39786990"; MUTAGEN 348; /note="C->R: Abolished tRNA guanine-dimethyltransferase activity."; /evidence="ECO:0000269|PubMed:28784718"; MUTAGEN 530; /note="Q->N,A,K: Abolished cleavage by coronavirus SARS-CoV-2 proteinase nsp5."; /evidence="ECO:0000269|PubMed:37073102, ECO:0000269|PubMed:38814682, ECO:0000269|PubMed:39773525"; MUTAGEN 531; /note="A->S: Does not affect cleavage by coronavirus SARS-CoV-2 proteinase nsp5."; /evidence="ECO:0000269|PubMed:39773525
uniprot
proteins
post_translational_modification
PTM: (Microbial infection) Cleaved between Gln-530 and Ala-531 by the 3C-like proteinase nsp5 from human coronavirus SARS-CoV-2, leading to its inactivation. {ECO:0000269|PubMed:37073102, ECO:0000269|PubMed:38814682, ECO:0000269|PubMed:39773525}.
uniprot
proteins
protein_family
Class I-like SAM-binding methyltransferase superfamily
uniprot
proteins
protein_family
Trm1 family
uniprot
proteins
pubmed
10982862
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21937992
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
26308914
uniprot
proteins
pubmed
28784718
uniprot
proteins
pubmed
30289604
uniprot
proteins
pubmed
31898845
uniprot
proteins
pubmed
33499731
uniprot
proteins
pubmed
37073102
uniprot
proteins
pubmed
37204604
uniprot
proteins
pubmed
38814682
uniprot
proteins
pubmed
39773525
uniprot
proteins
pubmed
39786990
uniprot
proteins
sequence_length
659
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Mitochondrion {ECO:0000305|PubMed:28784718, ECO:0000305|PubMed:33499731, ECO:0000305|PubMed:38814682}.; SUBCELLULAR LOCATION: [Isoform 3]: Nucleus {ECO:0000305|PubMed:28784718, ECO:0000305|PubMed:33499731, ECO:0000305|PubMed:38814682}. Cytoplasm {ECO:0000305|PubMed:28784718, ECO:0000305|PubMed:33499731, ECO:0000305|PubMed:38814682}.
uniprot
proteins