TRMT1

Chr 19p13.13

tRNA methyltransferase 1

Aliases:: FLJ20244, TRM1
MANE:: ENST00000357720.9

OMIM: 611669 ↗NCBI: 55621 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TRMT1 · Q9NXH9

v62025-08-01

Predicted Aligned Error matrix for TRMT1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.6/ 100

Confident

659 residues

Confidence breakdown

Very high(≥ 90)66%
Confident(70–90)10%
Low(50–70)7%
Very low(< 50)18%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

intellectual developmental disorder, autosomal recessive 68
0.64
hereditary disease
0.51
complex neurodevelopmental disorder
0.46
Intellectual disability
0.38
Global developmental delay
0.37
autosomal recessive non-syndromic intellectual disability
0.37
nonpapillary renal cell carcinoma
0.07
infection
0.06
familial isolated dilated cardiomyopathy
0.06
retinitis pigmentosa
0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

tRNA (guanine(26)-N(2))-dimethyltransferase

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)