TRMT1

This gene encodes a tRNA-modifying enzyme that acts as a dimethyltransferase, modifying a single guanine residue at position 26 of the tRNA. The encoded enzyme has both mono- and dimethylase activity when exogenously expressed, and uses S-adenosyl methionine as a methyl donor. The C-terminal region of the encoded protein has both a zinc finger motif, and an arginine/proline-rich region. Mutations in this gene have been implicated in autosomal recessive intellectual disorder (ARID). Alternative splicing results in multiple transcript variants encoding different isoforms. There is a pseudogene of this gene on the X chromosome. [provided by RefSeq, May 2017]

Description

TRNA methyltransferase 1

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Plasma membrane, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

19 (13104902 - 13117567)

Ensembl ID

ENSG00000104907  (ver. 103.38)

Orthologs

Mouse Trmt1: ENSMUSG00000001909

UniProt

Q9NXH9

neXtProt

NX_Q9NXH9

Human splice variants
Mouse splice variants

Protein structure