AKR1B15: Aldo-Keto Reductase Family 1 Member B15
A member of the aldo-keto reductase superfamily involved in detoxification and metabolism
Gene Information Card
| Symbol | AKR1B15 |
|---|---|
| Full Name | Aldo-Keto Reductase Family 1 Member B15 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q33 |
| NCBI Gene ID | 441282 ncbi.nlm.nih.gov/gene/441282 |
| Ensembl ID | ENSG00000196405 |
| UniProt ID | Q8N4T8 |
| OMIM ID | 617808 |
| HGNC ID | 33938 |
| Aliases | AKR1B15, aldo-keto reductase family 1 member B15 |
Description
AKR1B15 encodes a member of the aldo-keto reductase superfamily. These enzymes catalyze the NADPH-dependent reduction of carbonyl compounds, including aldehydes and ketones, to their corresponding alcohols. AKR1B15 is involved in detoxification and metabolic processes, particularly in the reduction of glucose to sorbitol and the metabolism of xenobiotics. The gene is located on chromosome 7q33 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetic complications | Increased sorbitol accumulation via AKR1B15 activity may contribute to osmotic stress in tissues | PMID: 12368274 |
| Cancer (general) | Altered expression may affect detoxification of carbonyl compounds, influencing oxidative stress | PMID: 23451116 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 2.1 | Low |
| Kidney | 1.8 | Low |
| Small intestine | 1.5 | Low |
| Colon | 1.2 | Low |
| Prostate | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 1.5 | Hepatocellular carcinoma cell line |
| HEK293 | 1.2 | Embryonic kidney cell line |
| Caco-2 | 0.8 | Colorectal adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | p.Met1Val, potential loss of start codon |
| c.100C>T | missense | <0.01% | p.Arg34Trp, unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
c.1A>G (p.Met1Val) likely disrupts translation initiation, leading to loss of protein function.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004032 - aldo-keto reductase (NADPH) activity | • GO:0055114 - oxidation-reduction process |
| • GO:0016491 - oxidoreductase activity |
Pathways
• Sorbitol pathway (Reactome: R-HSA-71387)
• Metabolism of xenobiotics by cytochrome P450 (KEGG: hsa00980)
Protein Summary
AKR1B15 is a 316-amino acid protein belonging to the aldo-keto reductase family. It functions as a monomeric NADPH-dependent oxidoreductase, catalyzing the reduction of aldehydes and ketones. The protein is primarily localized in the cytoplasm and is involved in the metabolism of glucose to sorbitol, as well as detoxification of reactive carbonyl species. Structural studies indicate a typical (α/β)8 barrel fold characteristic of aldo-keto reductases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AKR1B15 Knockout HEK293 Cell Line | EDJ-KQ12323 | Human | 441282 | Details Get a Quote |
| AKR1B15 Knockout A-549 Cell Line | EDJ-KQ41165 | Human | 441282 | Details Get a Quote |
| AKR1B15 Knockout HeLa Cell Line | EDJ-KQ60419 | Human | 441282 | Details Get a Quote |
| AKR1B15 Knockout HCT 116 Cell Line | EDJ-KQ77247 | Human | 441282 | Details Get a Quote |
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