ALKBH6: AlkB Homolog 6, tRNA Demethylase
A DNA/RNA repair enzyme involved in epigenetic regulation and cancer biology
Gene Information Card
| Symbol | ALKBH6 |
|---|---|
| Full Name | alkB homolog 6, tRNA demethylase |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.12 |
| NCBI Gene ID | 84964 ncbi.nlm.nih.gov/gene/84964 |
| Ensembl ID | ENSG00000105675 |
| UniProt ID | Q3KRA9 |
| OMIM ID | 618504 |
| HGNC ID | 26152 |
| Aliases | ABH6, ALKBH6, MGC13170 |
Description
ALKBH6 (alkB homolog 6) is a protein-coding gene that encodes a member of the AlkB family of dioxygenases. The enzyme catalyzes the demethylation of 1-methyladenine and 3-methylcytosine in DNA and RNA, playing a role in nucleic acid repair and epigenetic regulation. ALKBH6 is involved in tRNA modification and may influence translation fidelity. It is expressed in multiple tissues and has been implicated in cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of ALKBH6 expression may alter DNA/RNA repair capacity, promoting genomic instability | COSMIC mutation data; expression studies in tumor samples |
| Neurodevelopmental disorders | Potential role in RNA methylation affecting neuronal gene expression | Limited evidence from rare variant studies in ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
| Heart | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| HeLa | 7.8 | Low expression |
| HepG2 | 6.5 | Low expression |
| K562 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96Gln) | Missense | <0.01% | Unknown; predicted damaging by in silico tools |
| c.412C>T (p.Pro138Ser) | Missense | <0.01% | Unknown; likely benign |
| c.523_524del (p.Leu175fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu175fs) predicted to truncate the protein, likely abolishing demethylase activity.
Gain of Function (GOF)
No gain-of-function mutations reported in COSMIC or ClinVar.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair | • RNA repair |
| • oxidative demethylation | • tRNA processing |
| • metal ion binding | • dioxygenase activity |
Pathways
• AlkB family-mediated DNA/RNA repair
• tRNA modification
Protein Summary
ALKBH6 is a 261-amino acid protein belonging to the AlkB family of Fe(II)- and 2-oxoglutarate-dependent dioxygenases. It localizes to the nucleus and cytoplasm and catalyzes the demethylation of 1-methyladenine and 3-methylcytosine in nucleic acids. The protein contains a conserved dioxygenase domain and is involved in maintaining genome and transcriptome integrity. Its expression is highest in testis and brain, suggesting roles in spermatogenesis and neuronal function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALKBH6 Knockout HEK293 Cell Line | EDJ-KQ10286 | Human | 84964 | Details Get a Quote |
| ALKBH6 Knockout A-549 Cell Line | EDJ-KQ37547 | Human | 84964 | Details Get a Quote |
| ALKBH6 Knockout HCT 116 Cell Line | EDJ-KQ37548 | Human | 84964 | Details Get a Quote |
| ALKBH6 Knockout HeLa Cell Line | EDJ-KQ37549 | Human | 84964 | Details Get a Quote |
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