CBR1: Carbonyl Reductase 1
A key enzyme in the metabolism of carbonyl compounds, including drugs and endogenous steroids.
Gene Information Card
| Symbol | CBR1 |
|---|---|
| Full Name | Carbonyl Reductase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.12 |
| NCBI Gene ID | 873 ncbi.nlm.nih.gov/gene/873 |
| Ensembl ID | ENSG00000159228 |
| UniProt ID | P16152 |
| OMIM ID | 114830 |
| HGNC ID | 1548 |
| Aliases | CBR, SDR21C1 |
Description
CBR1 (carbonyl reductase 1) encodes a monomeric NADPH-dependent oxidoreductase belonging to the short-chain dehydrogenase/reductase (SDR) family. The enzyme catalyzes the reduction of a wide range of carbonyl compounds, including prostaglandins, steroids, and xenobiotics such as the anticancer drug doxorubicin. CBR1 is involved in the metabolism of endogenous substrates and contributes to drug resistance and detoxification. It is widely expressed in human tissues, with highest levels in the liver, kidney, and small intestine.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetic nephropathy | CBR1 polymorphisms may alter prostaglandin metabolism, affecting renal function in diabetes | PMID: 19037247 |
| Cancer (breast, ovarian) | CBR1 overexpression is associated with resistance to anthracycline chemotherapy via reduction of doxorubicin to doxorubicinol | PMID: 18316791 |
| Alzheimer's disease | CBR1 activity modulates levels of lipid peroxidation-derived carbonyls, potentially influencing neurodegeneration | PMID: 21741929 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 38.5 | High |
| Kidney | 27.3 | High |
| Small intestine | 22.1 | High |
| Heart | 10.2 | Medium |
| Brain | 5.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 42.1 | Hepatocellular carcinoma cell line |
| HEK293 | 18.6 | Embryonic kidney cells |
| MCF7 | 12.4 | Breast cancer cell line |
| A549 | 9.7 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.109G>A (p.Val37Ile) | Missense | 0.02% (gnomAD) | Reduced enzyme activity; associated with altered drug metabolism |
| c.627C>T (p.=) | Synonymous | 0.5% | No known functional effect |
| c.1A>G (p.Met1?) | Start loss | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Rare start-loss and missense variants (e.g., p.Val37Ile) reduce catalytic activity, potentially impairing detoxification of carbonyl compounds.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported.
Dominant Negative (DN)
Not described for CBR1.
View complete mutation data：
Gene Ontology (GO)
| • carbonyl reductase (NADPH) activity (GO:0004032) | • oxidation-reduction process (GO:0055114) |
| • oxidoreductase activity (GO:0016491) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) |
Pathways
• Prostaglandin synthesis and metabolism (Reactome: R-HSA-2162123)
• Metabolism of xenobiotics by cytochrome P450 (KEGG: hsa00980)
• Doxorubicin metabolism (Reactome: R-HSA-2161517)
Protein Summary
Carbonyl reductase 1 (CBR1) is a 277-amino-acid cytosolic enzyme that uses NADPH to reduce a variety of carbonyl-containing compounds, including prostaglandins, steroids, and drugs. It plays a critical role in the inactivation of lipid peroxidation products and the metabolism of anthracycline chemotherapeutics. CBR1 is highly expressed in the liver and kidney, and its activity influences drug efficacy and toxicity. Genetic variants in CBR1 can alter enzyme function and are associated with disease susceptibility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CBR1 Knockout HEK293 Cell Line | EDJ-KQ4203 | Human | 873 | Details Get a Quote |
| CBR1 Knockout A-549 Cell Line | EDJ-KQ26672 | Human | 873 | Details Get a Quote |
| CBR1 Knockout HeLa Cell Line | EDJ-KQ26673 | Human | 873 | Details Get a Quote |
| CBR1 Knockout HCT 116 Cell Line | EDJ-KQ69763 | Human | 873 | Details Get a Quote |
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