U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

    CYP1A2 cytochrome P450 family 1 subfamily A member 2 [ Homo sapiens (human) ]

    Gene ID: 1544, updated on 27-Nov-2024

    Summary

    Official Symbol
    CYP1A2provided by HGNC
    Official Full Name
    cytochrome P450 family 1 subfamily A member 2provided by HGNC
    Primary source
    HGNC:HGNC:2596
    See related
    Ensembl:ENSG00000140505 MIM:124060; AllianceGenome:HGNC:2596
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CP12; CYPIA2; P3-450; P450(PA)
    Summary
    This gene 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. The protein encoded by this gene 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. Other xenobiotic substrates for this enzyme include caffeine, aflatoxin B1, and acetaminophen. The transcript from this gene contains four Alu sequences flanked by direct repeats in the 3' untranslated region. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward liver (RPKM 100.8) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CYP1A2 in Genome Data Viewer
    Location:
    15q24.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (74748845..74756607)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (72618749..72626513)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (75041186..75048948)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9787 Neighboring gene enhancer of mRNA decapping 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9788 Neighboring gene CYP1A1 5' regulatory region Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:75021499-75022227 Neighboring gene cytochrome P450 family 1 subfamily A member 1 Neighboring gene CYP1A2 5' regulatory region Neighboring gene dioxin-responsive -38 kb CYP1A2 enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75059675-75060452 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75063617-75064332 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75064333-75065046 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75066003-75066580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9790 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75070096-75070626 Neighboring gene Sharpr-MPRA regulatory region 4992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9791 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9792 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6657 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75075123-75075698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9793 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9796 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:75080141-75080318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9800 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9801 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9803 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75084649-75085478 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75085479-75086307 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:75090696-75091895 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75092171-75093022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75093023-75093872 Neighboring gene microRNA 4513 Neighboring gene C-terminal Src kinase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75112197-75113010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75113011-75113824 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75114639-75115451 Neighboring gene lectin, mannose binding 1 like

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Clozapine response
    MedGen: CN077971 GeneReviews: Not available
    Compare labs
    Ondansetron response
    MedGen: CN417142 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome wide association study identified SNP on 15q24 associated with bladder cancer risk in Japanese population.
    EBI GWAS Catalog
    Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM.
    EBI GWAS Catalog
    Genome-wide association study identifies eight loci associated with blood pressure.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.
    EBI GWAS Catalog
    Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in aflatoxin metabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in alkaloid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular respiration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to cadmium ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dibenzo-p-dioxin metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epoxygenase P450 pathway TAS
    Traceable Author Statement
    more info
     
    involved_in estrogen metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in hydrogen peroxide biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in long-chain fatty acid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in lung development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in methylation TAS
    Traceable Author Statement
    more info
     
    involved_in monocarboxylic acid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in monoterpenoid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in omega-hydroxylase P450 pathway TAS
    Traceable Author Statement
    more info
     
    involved_in oxidative demethylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in porphyrin-containing compound metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retinol metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in retinol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in steroid catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in toxin biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in xenobiotic catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in xenobiotic catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in xenobiotic metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    cytochrome P450 1A2
    Names
    P450 form 4
    aryl hydrocarbon hydroxylase
    cholesterol 25-hydroxylase
    cytochrome P(3)450
    cytochrome P450 4
    cytochrome P450, family 1, subfamily A, polypeptide 2
    cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2
    cytochrome P450-P3
    dioxin-inducible P3-450
    flavoprotein-linked monooxygenase
    hydroperoxy icosatetraenoate dehydratase
    microsomal monooxygenase
    xenobiotic monooxygenase
    NP_000752.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008431.2 RefSeqGene

      Range
      31304..39066
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    2. NG_061543.1 RefSeqGene

      Range
      5001..12763
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1274

    mRNA and Protein(s)

    1. NM_000761.5NP_000752.2  cytochrome P450 1A2

      See identical proteins and their annotated locations for NP_000752.2

      Status: REVIEWED

      Source sequence(s)
      AC091230, BC067424, KF459683
      Consensus CDS
      CCDS32293.1
      UniProtKB/Swiss-Prot
      P05177, Q16754, Q6NWU3, Q6NWU5, Q9BXX7, Q9UK49
      Related
      ENSP00000342007.4, ENST00000343932.5
      Conserved Domains (1) summary
      pfam00067
      Location:42500
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      74748845..74756607
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      72618749..72626513
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)