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.

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 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
Displaying Records 1 To 4 Of 4 Records
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