ALKBH5
AlkB Homolog 5, RNA Demethylase
Gene Information Card
| Symbol | ALKBH5 |
|---|---|
| Full Name | AlkB Homolog 5, RNA Demethylase |
| Gene Type | Protein coding |
| Chromosomal Location | 17p11.2 |
| NCBI Gene ID | 54890 ncbi.nlm.nih.gov/gene/54890 |
| Ensembl ID | ENSG00000187079 |
| UniProt ID | Q6P6C2 |
| OMIM ID | 613303 |
| HGNC ID | 25996 |
| Aliases | ABH5, ALKBH5, MGC10072 |
Description
ALKBH5 (AlkB Homolog 5, RNA Demethylase) is a protein-coding gene that encodes a member of the AlkB family of dioxygenases. The encoded protein is a demethylase that specifically removes N6-methyladenosine (m6A) from RNA, thereby regulating RNA stability, splicing, and translation. ALKBH5 plays critical roles in spermatogenesis, embryonic development, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | ALKBH5 overexpression or underexpression alters m6A levels on oncogene or tumor suppressor transcripts, affecting their stability and translation. | ClinVar, COSMIC |
| Male infertility | ALKBH5 deficiency leads to impaired spermatogenesis due to defective RNA demethylation in testis. | OMIM, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 20.1 | High |
| Brain | 5.2 | Medium |
| Lung | 3.8 | Medium |
| Liver | 2.1 | Low |
| Kidney | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.5 | High expression |
| HeLa | 8.3 | Moderate expression |
| A549 | 6.7 | Moderate expression |
| MCF7 | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in ALKBH5 are associated with impaired RNA demethylation and spermatogenesis defects.
Gain of Function (GOF)
Gain-of-function mutations have not been well characterized; overexpression is observed in some cancers.
Dominant Negative (DN)
No dominant negative mutations have been reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA demethylase activity | • mRNA binding |
| • oxidative demethylation | • nucleus |
| • cytoplasm |
Pathways
• mRNA surveillance pathway
• RNA degradation
Protein Summary
The ALKBH5 protein is a 394-amino acid dioxygenase that localizes to nuclear speckles and the cytoplasm. It catalyzes the demethylation of N6-methyladenosine (m6A) in RNA, using Fe2+ and 2-oxoglutarate as cofactors. This activity is essential for proper RNA processing and gene expression regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALKBH5 Knockout HEK293 Cell Line | EDJ-KQ186 | Human | 54890 | Details Get a Quote |
| ALKBH5 Knockout A-549 Cell Line | EDJ-KQ20180 | Human | 54890 | Details Get a Quote |
| ALKBH5 Knockout HCT 116 Cell Line | EDJ-KQ20181 | Human | 54890 | Details Get a Quote |
| ALKBH5 Knockout HeLa Cell Line | EDJ-KQ20182 | Human | 54890 | Details Get a Quote |
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