ALKBH8
Function
Catalyzes the methylation of 5-carboxymethyl uridine to 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in tRNA via its methyltransferase domain (PubMed:20123966, PubMed:20308323, PubMed:31079898). Catalyzes the last step in the formation of 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in target tRNA (PubMed:20123966, PubMed:20308323). Has a preference for tRNA(Arg) and tRNA(Glu), and does not bind tRNA(Lys) (PubMed:20308323). Binds tRNA and catalyzes the iron and alpha-ketoglutarate dependent hydroxylation of 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in tRNA via its dioxygenase domain, giving rise to 5-(S)-methoxycarbonylhydroxymethyluridine; has a preference for tRNA(Gly) (PubMed:21285950). Required for normal survival after DNA damage (PubMed:20308323). May inhibit apoptosis and promote cell survival and angiogenesis (PubMed:19293182).
Involvement in disease
Intellectual developmental disorder, autosomal recessive 71
MRT71
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. MRT71 features include impaired intellectual development, global developmental delay, mildly delayed walking, poor language, seizures in the first years of life, and behavioral abnormalities.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the alkB family.
Tissue Specificity
Widely expressed, with highest expression in spleen, followed by pancreas and lung.
Cellular localization
- Cytoplasm
- Nucleus
- Predominantly cytoplasmic.
Alternative names
ABH8, ALKBH8, tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ALKBH8, Alkylated DNA repair protein alkB homolog 8, Alpha-ketoglutarate-dependent dioxygenase ALKBH8, S-adenosyl-L-methionine-dependent tRNA methyltransferase ALKBH8