ALKBH8
AlkB Homolog 8, tRNA Methyltransferase
Gene Information Card
| Symbol | ALKBH8 |
|---|---|
| Full Name | AlkB Homolog 8, tRNA Methyltransferase |
| Gene Type | Protein coding |
| Chromosomal Location | 11q22.3 |
| NCBI Gene ID | 91801 ncbi.nlm.nih.gov/gene/91801 |
| Ensembl ID | ENSG00000149196 |
| UniProt ID | Q96BT7 |
| OMIM ID | 613306 |
| HGNC ID | 25113 |
| Aliases | ABH8, TRMT9A, MGC33887 |
Description
ALKBH8 (AlkB Homolog 8, tRNA Methyltransferase) encodes a protein that belongs to the AlkB family of dioxygenases. It functions as a tRNA methyltransferase, specifically catalyzing the formation of 5-methoxycarbonylmethyl-2-thiouridine (mcm5s2U) at the wobble position of certain tRNAs. This modification is critical for accurate translation and codon-anticodon interactions. ALKBH8 is involved in the cellular response to oxidative stress and DNA damage.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| ALKBH8 deficiency (intellectual disability, developmental delay, facial dysmorphism) | Loss-of-function mutations impair tRNA modification, leading to translational defects and neurological phenotypes. | ClinVar, OMIM |
| Bladder cancer | ALKBH8 overexpression may promote tumorigenesis through altered translation of selenoproteins. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.3 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.3 | Embryonic kidney cells |
| HeLa | 9.7 | Cervical cancer cells |
| HepG2 | 7.4 | Liver cancer cells |
| SH-SY5Y | 6.8 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1129C>T (p.Arg377*) | Nonsense | Rare | Loss of function; associated with ALKBH8 deficiency |
| c.1435G>A (p.Gly479Arg) | Missense | Rare | Loss of function; associated with ALKBH8 deficiency |
| c.1667_1668del (p.Leu556Argfs*12) | Frameshift | Rare | Loss of function; associated with ALKBH8 deficiency |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense mutations that impair tRNA methyltransferase activity lead to ALKBH8 deficiency.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • tRNA methyltransferase activity | • mRNA binding |
| • oxidative stress response | • tRNA wobble base modification |
| • cytoplasm | • nucleus |
Pathways
• tRNA modification
• Selenocysteine biosynthesis
Protein Summary
The ALKBH8 protein is a 664-amino acid tRNA methyltransferase that contains a methyltransferase domain and an AlkB-like dioxygenase domain. It modifies the wobble uridine of tRNAs specific for lysine, glutamine, and glutamic acid, forming mcm5s2U. This modification enhances translational fidelity and is essential for selenoprotein synthesis. ALKBH8 also contributes to DNA damage repair and oxidative stress tolerance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALKBH8 Knockout HEK293 Cell Line | EDJ-KQ10786 | Human | 91801 | Details Get a Quote |
| ALKBH8 Knockout A-549 Cell Line | EDJ-KQ38417 | Human | 91801 | Details Get a Quote |
| ALKBH8 Knockout HCT 116 Cell Line | EDJ-KQ38418 | Human | 91801 | Details Get a Quote |
| ALKBH8 Knockout HeLa Cell Line | EDJ-KQ38419 | Human | 91801 | Details Get a Quote |
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