ALKBH3 (AlkB Homolog 3, Alpha-Ketoglutarate-Dependent Dioxygenase)
A DNA/RNA repair enzyme involved in alkylation damage reversal and cancer progression.
Gene Information Card
| Symbol | ALKBH3 |
|---|---|
| Full Name | AlkB Homolog 3, Alpha-Ketoglutarate-Dependent Dioxygenase |
| Gene Type | Protein coding |
| Chromosomal Location | 11p11.2 |
| NCBI Gene ID | 221120 ncbi.nlm.nih.gov/gene/221120 |
| Ensembl ID | ENSG00000166165 |
| UniProt ID | Q96Q83 |
| OMIM ID | 610603 |
| HGNC ID | 26122 |
| Aliases | ABH3, DEPC-1, hABH3, MGC903, PCNP-interacting protein |
Description
ALKBH3 encodes a member of the AlkB family of dioxygenases that repairs alkylated DNA and RNA by oxidative demethylation. It removes 1-methyladenine and 3-methylcytosine lesions, playing a key role in maintaining genome integrity. Overexpression is observed in various cancers and is associated with tumor progression and poor prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Overexpression promotes cell proliferation and invasion | PMID: 22922713 |
| Lung cancer | High expression correlates with poor survival | PMID: 25605247 |
| Breast cancer | ALKBH3 knockdown reduces tumor growth | PMID: 26831776 |
| Pancreatic cancer | Upregulation linked to chemoresistance | PMID: 27559042 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.3 | Medium |
| Lung | 6.1 | Low |
| Prostate | 5.4 | Low |
| Breast | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| A549 | 8.7 | Lung cancer cell line |
| PC-3 | 7.5 | Prostate cancer cell line |
| MCF-7 | 6.3 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional impact |
| c.287C>T | Nonsense | <0.01% | Predicted loss of function |
| c.512G>A | Missense | <0.01% | Reduced catalytic activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.287C>T) likely result in truncated, non-functional protein.
Gain of Function (GOF)
Not well documented; overexpression in tumors may mimic gain-of-function.
Dominant Negative (DN)
No known dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair | • RNA repair |
| • oxidative demethylation | • alpha-ketoglutarate-dependent dioxygenase activity |
| • metal ion binding |
Pathways
• AlkB family repair pathway
• Base excision repair (indirect)
Protein Summary
ALKBH3 is a 286-amino acid protein that localizes to the nucleus and cytoplasm. It uses iron and alpha-ketoglutarate as cofactors to oxidatively demethylate 1-methyladenine and 3-methylcytosine in DNA and RNA. The protein interacts with PCNP and is involved in cellular responses to alkylating agents.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALKBH3 Knockout HEK293 Cell Line | EDJ-KQ2287 | Human | 221120 | Details Get a Quote |
| ALKBH3 Knockout A-549 Cell Line | EDJ-KQ21311 | Human | 221120 | Details Get a Quote |
| ALKBH3 Knockout HCT 116 Cell Line | EDJ-KQ22640 | Human | 221120 | Details Get a Quote |
| ALKBH3 Knockout HeLa Cell Line | EDJ-KQ22641 | Human | 221120 | Details Get a Quote |
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