TRIT1
Function
Catalyzes the transfer of a dimethylallyl group onto the adenine at position 37 of both cytosolic and mitochondrial tRNAs, leading to the formation of N6-(dimethylallyl)adenosine (i6A37) (PubMed:11111046, PubMed:24126054, PubMed:24901367, PubMed:34774131). Mediates modification of a limited subset of tRNAs: tRNA(Ser)(AGA), tRNA(Ser)(CGA), tRNA(Ser)(UGA), as well as partial modification of the selenocysteine tRNA(Ser)(UCA) (PubMed:24126054). TRIT1 is therefore required for selenoprotein expression (PubMed:24126054).
Involvement in disease
Combined oxidative phosphorylation deficiency 35
COXPD35
An autosomal recessive disorder caused by defective mitochondrial metabolism and deficiencies of mitochondrial respiratory enzyme complexes. Clinical manifestations include global developmental delay, intellectual disability, microcephaly, and early-onset seizures.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the IPP transferase family.
Cellular localization
- Isoform 1
- Mitochondrion
- Isoform 4
- Mitochondrion
- Isoform 2
- Cytoplasm
- Isoform 3
- Cytoplasm
- Isoform 5
- Cytoplasm
Alternative names
IPT, MOD5, TRIT1, tRNA dimethylallyltransferase, Isopentenyl-diphosphate:tRNA isopentenyltransferase, hGRO1, tRNA isopentenyltransferase 1, IPP transferase, IPPT, IPTase