TRMO

tRNA Methyltransferase O (tRNA m5U Methyltransferase)

Gene Information Card

Symbol TRMO
Full Name tRNA Methyltransferase O (tRNA m5U Methyltransferase)
Gene Type Protein coding
Chromosomal Location 9q34.11
NCBI Gene ID 51560 ncbi.nlm.nih.gov/gene/51560
Ensembl ID ENSG00000136869
UniProt ID Q9H0K6
OMIM ID 610166
HGNC ID 25296
Aliases TRM5, TRM5L, TRMT5, TRMO1, hTrm5

Description

The TRMO gene encodes tRNA methyltransferase O, an enzyme responsible for the 5-methyluridine (m5U) modification at position 54 of tRNAs. This modification is critical for tRNA stability, folding, and translational fidelity. TRMO is a member of the SPOUT methyltransferase family and is conserved across eukaryotes. Mutations and altered expression of TRMO have been implicated in cancer and mitochondrial dysfunction.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (multiple types) Altered tRNA modification may affect translation of oncogenes/tumor suppressors COSMIC mutation data; ClinVar variants
Mitochondrial disorders Defective tRNA methylation impairs mitochondrial protein synthesis OMIM #610166; functional studies

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Brain 8.2 Low
Liver 6.1 Low
Heart 5.4 Low
Kidney 4.8 Low
Cell Line Expression
Cell Line nTPM Notes
HEK293 10.3 Moderate expression
HeLa 8.7 Moderate expression
K562 6.2 Low expression
HepG2 5.9 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G Missense <0.01% Unknown
c.214C>T Nonsense <0.01% Likely loss of function
c.347G>A Missense <0.01% Unknown
Mutation functional classification

Loss of Function (LOF)

Nonsense and frameshift mutations predicted to cause loss of tRNA methylation activity.

Gain of Function (GOF)

Not reported.

Dominant Negative (DN)

Not reported.

Gene Ontology (GO)

• tRNA methyltransferase activity • tRNA modification
• methylation • RNA processing
• cytoplasm

Pathways

• tRNA modification in the nucleus and mitochondria

Protein Summary

TRMO is a 45 kDa protein localized to the cytoplasm and mitochondria. It catalyzes the S-adenosylmethionine-dependent methylation of uridine at position 54 of tRNAs, producing 5-methyluridine. The protein contains a conserved SPOUT methyltransferase domain and is essential for proper tRNA structure and function.

Related Products

Product name Cat.No. Species Gene ID
TRMO Knockout HEK293 Cell Line EDJ-KQ11132 Human 51531 Details Get a Quote
TRMO Knockout A-549 Cell Line EDJ-KQ39121 Human 51531 Details Get a Quote
TRMO Knockout HCT 116 Cell Line EDJ-KQ39122 Human 51531 Details Get a Quote
TRMO Knockout HeLa Cell Line EDJ-KQ39123 Human 51531 Details Get a Quote
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