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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ALKBH1
alkB homolog 1, histone H2A dioxygenase
Chromosome 14 · 14q24.3
NCBI Gene: 8846Ensembl: ENSG00000100601.11HGNC: HGNC:17911UniProt: Q13686
46PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
tRNA bindingferrous iron bindingoxidative RNA demethylase activitybroad specificity oxidative DNA demethylase activitycolor vision disordermusculoskeletal system diseaseneurodegenerative diseasecolorectal carcinoma
✦AI Summary

ALKBH1 is a Fe(II) and α-ketoglutarate-dependent dioxygenase with diverse enzymatic functions in nucleic acid metabolism 1. Its primary catalytic activity involves demethylation of multiple substrates: it removes N1-methyladenine from tRNAs (particularly at position 58), catalyzes oxidation of mitochondrial tRNA(Met) to form 5-formylcytosine at wobble positions, and demethylates N6-methyladenosine (m6A) in DNA and mRNA 2. ALKBH1 regulates translation initiation and elongation in response to metabolic stress, with mitochondrial tRNA modifications expanding codon recognition to include AUA alongside AUG 1. Clinically, ALKBH1 dysregulation associates with multiple disease states. In chr14 kidney disease, ALKBH1-mediated 6mA demethylation facilitates Oct4 binding to BMP2 promoters, driving osteogenic reprogramming of vascular smooth muscle cells and vascular calcification 3. In acute myeloid leukemia, ALKBH1 overexpression is essential for leukemia stem cell self-renewal and confers venetoclax resistance through tRNA-decoding reprogramming and codon-biased translation 2. In glioblastoma, elevated N6-mA regulated by ALKBH1 promotes tumor proliferation 4. Additionally, ALKBH1 possesses non-catalytic functions, regulating HIF-1α stability and glycolysis through N-glycosylation modulation 5. These findings position ALKBH1 as a promising therapeutic target across multiple malignancies and metabolic diseases 1.

Sources cited
1
ALKBH1 is an Fe(II) and α-ketoglutarate-dependent dioxygenase with enzymatic activity against m6A, m1A, m3C, m5C, 6mA, and histone H2A
PMID: 39040364
2
ALKBH1 catalyzes 5-formylcytosine at tRNA wobble positions and drives codon-biased translation essential for AML development and venetoclax resistance
PMID: 40747882
3
ALKBH1-mediated 6mA demethylation promotes osteogenic reprogramming and vascular calcification in chronic kidney disease through Oct4-BMP2 axis
PMID: 34003800
4
ALKBH1 regulates N6-methyladenine levels in glioblastoma, and ALKBH1 depletion inhibits tumor proliferation by decreasing chromatin accessibility
PMID: 30392959
5
ALKBH1 regulates glycolysis and HIF-1α stability through non-catalytic functions involving N-glycosylation of LAMP2A and oligosaccharyltransferase complex interaction
PMID: 38472355
Disease Associationsⓘ20
color vision disorderOpen Targets
0.29Weak
musculoskeletal system diseaseOpen Targets
0.27Weak
neurodegenerative diseaseOpen Targets
0.15Weak
colorectal carcinomaOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
gastric adenocarcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
Hepatic steatosisOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
head and neck squamous cell carcinomaOpen Targets
0.07Suggestive
gastric cancerOpen Targets
0.07Suggestive
Abnormality of the genital systemOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.06Suggestive
Genu valgumOpen Targets
0.06Suggestive
Wilms tumorOpen Targets
0.05Suggestive
Micro syndromeOpen Targets
0.05Suggestive
Genu varumOpen Targets
0.04Suggestive
microphthalmia, syndromic 2Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TRMT61AProtein interaction100%TRMT61BProtein interaction100%JMJD4Protein interaction97%TRMT10CProtein interaction96%ALKBH4Protein interaction96%ALKBH6Protein interaction95%
Tissue Expression6 tissues
Heart
100%
Brain
71%
Ovary
70%
Liver
65%
Lung
61%
Bone Marrow
39%
Gene Interaction Network
Click a node to explore
ALKBH1TRMT61ATRMT61BJMJD4TRMT10CALKBH4ALKBH6
PROTEIN STRUCTURE
Preparing viewer…
PDB6IE3 · 1.97 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.13LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.60–1.13]
RankingsWhere ALKBH1 stands among ~20K protein-coding genes
  • #9,298of 20,598
    Most Researched46
  • #11,661of 17,882
    Most Constrained (LOEUF)1.13
Genes detectedALKBH1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ALKBH1-demethylated DNA N6-methyladenine modification triggers vascular calcification via osteogenic reprogramming in chronic kidney disease.
PMID: 34003800
J Clin Invest · 2021
1.00
2
The biological function of demethylase ALKBH1 and its role in human diseases.
PMID: 39040364
Heliyon · 2024
0.90
3
Demethyltransferase AlkBH1 substrate diversity and relationship to human diseases.
PMID: 34046849
Mol Biol Rep · 2021
0.80
4
ALKBH1 Drives Tumorigenesis and Drug Resistance via tRNA-decoding Reprogramming and Codon-biased Translation.
PMID: 40747882
Cancer Discov · 2025
0.70
5
N
PMID: 30392959
Cell · 2018
0.60