ALKBH8

Chr 11q22.3

alkB homolog 8, tRNA methyltransferase

Aliases:: MGC10235, TRM9, TRMT9A
MANE:: ENST00000428149.7

OMIM: 613306 ↗NCBI: 91801 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ALKBH8 · Q96BT7

v62025-08-01

Predicted Aligned Error matrix for ALKBH8 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

80.6/ 100

Confident

664 residues

Confidence breakdown

Very high(≥ 90)52%
Confident(70–90)28%
Low(50–70)7%
Very low(< 50)14%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

intellectual developmental disorder, autosomal recessive 71
0.72
neurodegenerative disease
0.46
autosomal recessive non-syndromic intellectual disability
0.37
insomnia
0.17
colorectal carcinoma
0.07
autosomal dominant macrothrombocytopenia
0.05
dehydrated hereditary stomatocytosis
0.05
obesity disorder
0.04
Dent disease
0.04
Dent disease type 1
0.04

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

Protein function (UniProt)

tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ALKBH8

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)