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

    Gene ID: 1544, updated on 15-Oct-2017
    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; Vega:OTTHUMG00000172901
    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]
    Orthologs
    Location:
    15q24.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 15 NC_000015.10 (74748843..74756600)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (75041184..75048941)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene CDC like kinase 3 Neighboring gene enhancer of mRNA decapping 3 Neighboring gene cytochrome P450 family 1 subfamily A member 1 Neighboring gene microRNA 4513 Neighboring gene C-terminal Src kinase Neighboring gene lectin, mannose binding 1 like

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

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

    NHGRI GWAS Catalog

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

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    aromatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    caffeine oxidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    demethylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    electron transfer activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    heme binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    monooxygenase activity TAS
    Traceable Author Statement
    more info
     
    oxidoreductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    oxygen binding TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    alkaloid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular respiration IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to cadmium ion IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to copper ion IEA
    Inferred from Electronic Annotation
    more info
     
    dibenzo-p-dioxin metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    drug catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    drug metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    epoxygenase P450 pathway TAS
    Traceable Author Statement
    more info
     
    exogenous drug catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    heterocycle metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hydrogen peroxide biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    lung development IEA
    Inferred from Electronic Annotation
    more info
     
    methylation TAS
    Traceable Author Statement
    more info
     
    monocarboxylic acid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    monoterpenoid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    omega-hydroxylase P450 pathway TAS
    Traceable Author Statement
    more info
     
    oxidation-reduction process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidative deethylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidative demethylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    porphyrin-containing compound metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    response to immobilization stress IEA
    Inferred from Electronic Annotation
    more info
     
    response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    steroid catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    toxin biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    organelle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    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
    microsomal monooxygenase
    xenobiotic monooxygenase
    NP_000752.2

    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
      31302..39059
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000761.4NP_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
      Related
      ENSP00000342007.4, OTTHUMP00000249691, ENST00000343932.4, OTTHUMT00000421263
      Conserved Domains (1) summary
      pfam00067
      Location:42494
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p7 Primary Assembly

      Range
      74748843..74756600
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      75159686..75167443
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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