CYP1A1 Gene: Cytochrome P450 Family 1 Subfamily A Member 1
Key enzyme in xenobiotic metabolism, linked to cancer susceptibility and toxicity
Gene Information Card
| Symbol | CYP1A1 |
|---|---|
| Full Name | Cytochrome P450 family 1 subfamily A member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q24.1 |
| NCBI Gene ID | 1543 ncbi.nlm.nih.gov/gene/1543 |
| Ensembl ID | ENSG00000140465 |
| UniProt ID | P04798 |
| OMIM ID | 108330 |
| HGNC ID | 2595 |
| Aliases | AHRR, CP11, CYP1, P1-450, P450-C, P450DX |
Description
The CYP1A1 gene encodes a member of the cytochrome P450 superfamily of enzymes. These enzymes are involved in the metabolism of various xenobiotics, including polycyclic aromatic hydrocarbons (PAHs) found in tobacco smoke and environmental pollutants. CYP1A1 is primarily expressed in extrahepatic tissues and is induced by aryl hydrocarbon receptor (AHR) ligands. It catalyzes the hydroxylation of PAHs, leading to the formation of reactive intermediates that can bind to DNA and cause mutations, contributing to carcinogenesis. Polymorphisms in CYP1A1 have been associated with altered enzyme activity and increased susceptibility to certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung Cancer | Increased CYP1A1 activity leads to enhanced activation of PAHs, resulting in DNA adducts and mutations in oncogenes/tumor suppressors. | Multiple case-control studies; meta-analyses show association with certain polymorphisms (e.g., rs1048943, rs4646903) in Asian populations. |
| Breast Cancer | CYP1A1 metabolizes estrogens to catechol estrogens, which can generate reactive oxygen species and DNA damage. | Some studies report association with CYP1A1 MspI polymorphism (rs4646903) and increased risk, but results are inconsistent. |
| Head and Neck Cancer | Activation of tobacco carcinogens by CYP1A1 increases risk of squamous cell carcinoma. | Case-control studies show higher risk in individuals with CYP1A1*2A or *2C alleles, especially in smokers. |
| Colorectal Cancer | Metabolism of dietary heterocyclic amines and PAHs may contribute to colorectal carcinogenesis. | Association with CYP1A1 Ile462Val (rs1048943) polymorphism reported in some populations, but not all. |
| Atherosclerosis | CYP1A1-mediated metabolism of PAHs in vascular tissues may promote oxidative stress and inflammation. | Limited evidence; some studies suggest increased risk with certain genotypes. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 0.8 | Low |
| Liver | 0.5 | Low |
| Small Intestine | 0.3 | Low |
| Kidney | 0.2 | Low |
| Placenta | 0.1 | Low |
| Skin | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 0.2 | Low basal expression; inducible by AHR ligands |
| A549 | 0.1 | Low basal; inducible by PAHs |
| MCF7 | 0.1 | Low basal; inducible by TCDD |
| Caco-2 | 0.1 | Low basal; inducible |
| HCT116 | 0.1 | Low basal |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1048943 (Ile462Val) | SNP (missense) | Allele frequency ~5-10% in Caucasians, higher in Asians | Increased enzyme activity; associated with increased cancer risk in some studies. |
| rs4646903 (MspI, T3801C) | SNP (intronic) | Allele frequency ~10-20% in various populations | May affect mRNA stability or splicing; associated with increased cancer risk. |
| rs2606345 (C4887A) | SNP (3' UTR) | Allele frequency ~5-15% | May affect miRNA binding; potential impact on gene expression. |
| rs1799814 (C2455A) | SNP (missense, Thr461Asn) | Allele frequency ~1-5% | Altered enzyme activity; possible association with cancer risk. |
Mutation functional classification
Loss of Function (LOF)
Rare variants that reduce enzyme activity may lead to decreased detoxification of carcinogens, potentially increasing susceptibility to toxicity but not well characterized.
Gain of Function (GOF)
Common polymorphisms like Ile462Val are associated with increased catalytic activity, leading to enhanced activation of pro-carcinogens and increased cancer risk.
Dominant Negative (DN)
No dominant negative mutations have been reported for CYP1A1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Aryl hydrocarbon receptor signaling pathway
• Metabolism of xenobiotics by cytochrome P450
• Chemical carcinogenesis
• Tryptophan metabolism
• Linoleic acid metabolism
• Retinol metabolism
Protein Summary
CYP1A1 is a membrane-bound heme-containing enzyme localized to the endoplasmic reticulum. It catalyzes the oxidative metabolism of a wide range of substrates, including polycyclic aromatic hydrocarbons (PAHs), heterocyclic amines, and estrogens. The enzyme is induced by ligands of the aryl hydrocarbon receptor (AHR), such as dioxins and benzo[a]pyrene. CYP1A1 activity is crucial for the detoxification of xenobiotics, but also can produce reactive intermediates that cause DNA damage and initiate carcinogenesis. The protein consists of 512 amino acids with a molecular weight of approximately 58 kDa. It contains a conserved cytochrome P450 cysteine heme-iron ligand signature motif.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP1A1 Knockout HEK293 Cell Line | EDJ-KQ3897 | Human | 1543 | Details Get a Quote |
| CYP1A1 Knockout HCT 116 Cell Line | EDJ-KQ26114 | Human | 1543 | Details Get a Quote |
| CYP1A1 Knockout HeLa Cell Line | EDJ-KQ53039 | Human | 1543 | Details Get a Quote |
| CYP1A1 Knockout A-549 Cell Line | EDJ-KQ61503 | Human | 1543 | Details Get a Quote |
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