CYP1A2
Cytochrome P450 Family 1 Subfamily A Member 2
Gene Information Card
| Symbol | CYP1A2 |
|---|---|
| Full Name | Cytochrome P450 Family 1 Subfamily A Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q24.1 |
| NCBI Gene ID | 1544 ncbi.nlm.nih.gov/gene/1544 |
| Ensembl ID | ENSG00000140505 |
| UniProt ID | P05177 |
| OMIM ID | 124060 |
| HGNC ID | 2596 |
| Aliases | CP12, P3-450, P450(PA) |
Description
CYP1A2 encodes a member of the cytochrome P450 superfamily of enzymes, which are heme-thiolate monooxygenases involved in the metabolism of xenobiotics and endogenous compounds. This enzyme is primarily expressed in the liver and is responsible for the oxidative metabolism of numerous drugs (e.g., caffeine, theophylline, clozapine) and procarcinogens (e.g., polycyclic aromatic hydrocarbons). CYP1A2 activity is inducible by cigarette smoking and certain dietary factors, and genetic polymorphisms contribute to interindividual variability in drug response and cancer susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bladder Cancer | CYP1A2 activates aromatic amines (procarcinogens) to mutagenic metabolites; increased activity may elevate cancer risk. | PMID: 10668796 |
| Liver Cancer | Polymorphisms in CYP1A2 are associated with altered metabolism of hepatocarcinogens. | PMID: 23334758 |
| Drug-Induced Liver Injury | CYP1A2-mediated bioactivation of drugs (e.g., acetaminophen) can produce hepatotoxic intermediates. | PMID: 19552654 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 22.3 | High |
| Small Intestine | 1.2 | Low |
| Lung | 0.5 | Not detected |
| Kidney | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 12.1 | Hepatocellular carcinoma cell line |
| HepaRG | 18.5 | Differentiated hepatocyte-like cells |
| Caco-2 | 0.8 | Colorectal adenocarcinoma cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs762551 (CYP1A2*1F) | SNP (intronic) | ~40% in Caucasians | Associated with inducibility; *1F/*1F genotype linked to higher enzyme activity after smoking |
| rs2069514 (CYP1A2*1C) | SNP (5' flanking) | ~5% in Asians | Reduced enzyme activity |
| rs72547513 (CYP1A2*7) | Missense (Arg456His) | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
CYP1A2*7 (Arg456His) results in reduced catalytic activity.
Gain of Function (GOF)
CYP1A2*1F (rs762551) is associated with higher inducibility, not constitutive gain-of-function.
Dominant Negative (DN)
No dominant-negative variants reported for CYP1A2.
View complete mutation data:
Gene Ontology (GO)
| • heme binding | • iron ion binding |
| • oxidoreductase activity | • acting on paired donors |
| • with incorporation or reduction of molecular oxygen | • monooxygenase activity |
| • caffeine oxidase activity | • endoplasmic reticulum membrane |
Pathways
• Caffeine metabolism
• Arachidonic acid metabolism
• Drug metabolism - cytochrome P450
• Metabolism of xenobiotics by cytochrome P450
• Tryptophan metabolism
Protein Summary
CYP1A2 is a 515-amino-acid microsomal hemoprotein (molecular weight ~58 kDa) localized to the endoplasmic reticulum. The protein contains a conserved heme-binding domain and a substrate recognition site that accommodates planar aromatic compounds. Its three-dimensional structure (PDB: 2HI4) reveals a typical P450 fold with a buried active site. Post-translational modifications include heme coordination and potential phosphorylation, though the latter is not well characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP1A2 Knockout HEK293 Cell Line | EDJ-KQ4399 | Human | 1544 | Details Get a Quote |
| CYP1A2 Knockout HeLa Cell Line | EDJ-KQ53040 | Human | 1544 | Details Get a Quote |
| CYP1A2 Knockout A-549 Cell Line | EDJ-KQ61504 | Human | 1544 | Details Get a Quote |
| CYP1A2 Knockout HCT 116 Cell Line | EDJ-KQ69998 | Human | 1544 | Details Get a Quote |
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