AKR7A3
Aldo-Keto Reductase Family 7 Member A3
Gene Information Card
| Symbol | AKR7A3 |
|---|---|
| Full Name | Aldo-Keto Reductase Family 7 Member A3 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 22977 ncbi.nlm.nih.gov/gene/22977 |
| Ensembl ID | ENSG00000116133 |
| UniProt ID | O95154 |
| OMIM ID | 604077 |
| HGNC ID | 388 |
| Aliases | AFAR2, AFB1-AR2, AKR7A3 |
Description
AKR7A3 encodes a member of the aldo-keto reductase superfamily, specifically aflatoxin B1 aldehyde reductase 2. This enzyme catalyzes the reduction of aflatoxin B1 dialdehyde and other carbonyl compounds, playing a key role in detoxification of xenobiotics and protection against oxidative stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Reduced AKR7A3 activity may impair aflatoxin B1 detoxification, increasing susceptibility to DNA damage and carcinogenesis. | PMID: 10488014 |
| Aflatoxin B1 poisoning | Deficiency in AKR7A3-mediated reduction of aflatoxin B1 dialdehyde leads to accumulation of toxic metabolites. | PMID: 10488014 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Small intestine | 6.1 | Medium |
| Colon | 4.2 | Low |
| Lung | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 7.4 | Embryonic kidney cells |
| Caco-2 | 5.1 | Colorectal adenocarcinoma cells |
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.214C>T | missense | <0.01% | p.Arg72Cys; reduced enzymatic activity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg72Cys) reduce catalytic efficiency for aflatoxin B1 dialdehyde reduction.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004032 - aldehyde reductase activity | • GO:0016491 - oxidoreductase activity |
| • GO:0055114 - oxidation-reduction process | • GO:0005829 - cytosol |
| • GO:0005737 - cytoplasm |
Pathways
• Aflatoxin B1 metabolism
• Metabolism of xenobiotics by cytochrome P450
Protein Summary
AKR7A3 is a 328-amino acid monomeric enzyme (36.8 kDa) that belongs to the aldo-keto reductase family. It catalyzes the NADPH-dependent reduction of aflatoxin B1 dialdehyde and other carbonyl compounds, contributing to cellular detoxification. The protein is predominantly expressed in liver and kidney, with lower levels in intestine and lung.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AKR7A3 Knockout HEK293 Cell Line | EDJ-KQ7760 | Human | 22977 | Details Get a Quote |
| AKR7A3 Knockout HCT 116 Cell Line | EDJ-KQ33212 | Human | 22977 | Details Get a Quote |
| AKR7A3 Knockout HeLa Cell Line | EDJ-KQ55663 | Human | 22977 | Details Get a Quote |
| AKR7A3 Knockout A-549 Cell Line | EDJ-KQ64162 | Human | 22977 | Details Get a Quote |
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