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    CYP1A1 cytochrome P450 family 1 subfamily A member 1 [ Homo sapiens (human) ]

    Gene ID: 1543, updated on 26-Nov-2021

    Summary

    Official Symbol
    CYP1A1provided by HGNC
    Official Full Name
    cytochrome P450 family 1 subfamily A member 1provided by HGNC
    Primary source
    HGNC:HGNC:2595
    See related
    Ensembl:ENSG00000140465 MIM:108330
    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
    AHH; AHRR; CP11; CYP1; CYPIA1; P1-450; P450-C; P450DX
    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]
    Expression
    Biased expression in urinary bladder (RPKM 40.8), liver (RPKM 18.0) and 1 other tissue See more
    Orthologs
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    Genomic context

    See CYP1A1 in Genome Data Viewer
    Location:
    15q24.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (74719542..74725528, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (75011883..75017869, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723750 Neighboring gene CDC like kinase 3 Neighboring gene enhancer of mRNA decapping 3 Neighboring gene CYP1A1 5' regulatory region Neighboring gene CYP1A2 5' regulatory region Neighboring gene enhancer downstream of CYP1A2 Neighboring gene cytochrome P450 family 1 subfamily A member 2

    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
    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Hsp70 protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables Hsp90 protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables arachidonic acid monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables aromatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables demethylase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables enzyme binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables estrogen 16-alpha-hydroxylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables estrogen 2-hydroxylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables flavonoid 3'-monooxygenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables heme binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables hydroperoxy icosatetraenoate dehydratase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables long-chain fatty acid omega-1 hydroxylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables long-chain fatty acid omega-hydroxylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables monooxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables monooxygenase activity TAS
    Traceable Author Statement
    more info
     
    enables oxidoreductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables oxidoreductase activity, acting on diphenols and related substances as donors IEA
    Inferred from Electronic Annotation
    more info
     
    enables oxygen binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables vitamin D 24-hydroxylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in 9-cis-retinoic acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in DNA methylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in aging IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in amine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in camera-type eye development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to copper ion IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within cellular response to organic cyclic compound IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in coumarin metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in demethylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dibenzo-p-dioxin catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in digestive tract development 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 ethylene metabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in fatty acid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in flavonoid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hepatocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hydrogen peroxide biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in insecticide metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lipid hydroxylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in long-chain fatty acid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in long-chain fatty acid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in maternal process involved in parturition IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in omega-hydroxylase P450 pathway TAS
    Traceable Author Statement
    more info
     
    involved_in porphyrin-containing compound metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of G1/S transition of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to antibiotic IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to arsenic-containing substance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to food IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to herbicide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hyperoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to immobilization stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to iron(III) ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to nematode IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to virus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to vitamin A IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to wounding 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 biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in steroid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in vitamin D metabolic process IC
    Inferred by Curator
    more info
    PubMed 
    involved_in xenobiotic metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    PubMed 
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    cytochrome P450 1A1
    Names
    aryl hydrocarbon hydroxylase
    cytochrome P1-450, dioxin-inducible
    cytochrome P450 form 6
    cytochrome P450, family 1, subfamily A, polypeptide 1
    cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1
    cytochrome P450-C
    cytochrome P450-P1
    flavoprotein-linked monooxygenase
    hydroperoxy icosatetraenoate dehydratase
    xenobiotic monooxygenase
    NP_000490.1
    NP_001306145.1
    NP_001306146.1

    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_061374.1 RefSeqGene

      Range
      5001..10987
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1262

    mRNA and Protein(s)

    1. NM_000499.5NP_000490.1  cytochrome P450 1A1 isoform 1

      See identical proteins and their annotated locations for NP_000490.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AC091230
      Consensus CDS
      CCDS10268.1
      UniProtKB/Swiss-Prot
      P04798
      UniProtKB/TrEMBL
      A0N0X8
      Related
      ENSP00000378488.2, ENST00000395048.6
      Conserved Domains (1) summary
      pfam00067
      Location:40499
      p450; Cytochrome P450
    2. NM_001319216.2NP_001306145.1  cytochrome P450 1A1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an in-frame coding exon, compared to variant 1, and encodes a shorter isoform (2), compared to isoform 1.
      Source sequence(s)
      AC091230
      Consensus CDS
      CCDS81906.1
      UniProtKB/Swiss-Prot
      P04798
      UniProtKB/TrEMBL
      E7EMT5
      Related
      ENSP00000378489.4, ENST00000395049.8
      Conserved Domains (1) summary
      pfam00067
      Location:40464
      p450; Cytochrome P450
    3. NM_001319217.2NP_001306146.1  cytochrome P450 1A1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1, and encodes isoform 1. Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AK223108, BC023019
      Consensus CDS
      CCDS10268.1
      UniProtKB/Swiss-Prot
      P04798
      UniProtKB/TrEMBL
      A0N0X8
      Related
      ENSP00000369050.3, ENST00000379727.8
      Conserved Domains (1) summary
      pfam00067
      Location:40499
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

      Range
      74719542..74725528 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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