CYP1A1 cytochrome P450 family 1 subfamily A member 1
Gene ID: 1543, updated on 15-Oct-2024Gene type: protein coding
Also known as: AHH; AHRR; CP11; CYP1; CYPIA1; P1-450; P450-C; P450DX
- See all available tests in GTR for this gene
- Go to complete Gene record for CYP1A1
- Go to Variation Viewer for CYP1A1 variants
Summary
This gene, CYP1A1, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. The gene has been associated with lung cancer risk. A related family member, CYP1A2, is located approximately 25 kb away from CYP1A1 on chromosome 15. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. GeneReviews: Not available | |
| Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM. GeneReviews: Not available | |
| Genome-wide association study identifies eight loci associated with blood pressure. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption. GeneReviews: Not available | |
| Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption. GeneReviews: Not available |
Genomic context
- Location:
- 15q24.1
- Sequence:
- Chromosome: 15; NC_000015.10 (74719542..74725528, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CYP1A1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- CYP1A1 database
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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