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

Gene ID: 1543, updated on 23-Apr-2019

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

Genomic context

See CYP1A1 in Genome Data Viewer
Location:
15q24.1
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (74719542..74725610, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (75011883..75017951, 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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Hsp70 protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Hsp90 protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
aromatase activity IEA
Inferred from Electronic Annotation
more info
 
demethylase activity IEA
Inferred from Electronic Annotation
more info
 
enzyme binding IEA
Inferred from Electronic Annotation
more info
 
estrogen 16-alpha-hydroxylase activity IDA
Inferred from Direct Assay
more info
PubMed 
flavonoid 3'-monooxygenase activity IEA
Inferred from Electronic Annotation
more info
 
heme binding IEA
Inferred from Electronic Annotation
more info
 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
monooxygenase activity TAS
Traceable Author Statement
more info
 
oxidoreductase activity IDA
Inferred from Direct Assay
more info
PubMed 
oxidoreductase activity, acting on diphenols and related substances as donors IEA
Inferred from Electronic Annotation
more info
 
oxygen binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
vitamin D 24-hydroxylase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
9-cis-retinoic acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
aging IEA
Inferred from Electronic Annotation
more info
 
amine metabolic process IEA
Inferred from Electronic Annotation
more info
 
camera-type eye development IEA
Inferred from Electronic Annotation
more info
 
cell proliferation IEA
Inferred from Electronic Annotation
more info
 
cellular response to copper ion IEA
Inferred from Electronic Annotation
more info
 
cellular response to organic cyclic compound IDA
Inferred from Direct Assay
more info
PubMed 
coumarin metabolic process IEA
Inferred from Electronic Annotation
more info
 
demethylation IEA
Inferred from Electronic Annotation
more info
 
dibenzo-p-dioxin catabolic process IEA
Inferred from Electronic Annotation
more info
 
digestive tract development IEA
Inferred from Electronic Annotation
more info
 
drug metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
epoxygenase P450 pathway TAS
Traceable Author Statement
more info
 
ethylene metabolic process TAS
Traceable Author Statement
more info
 
flavonoid metabolic process IEA
Inferred from Electronic Annotation
more info
 
hepatocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
hydrogen peroxide biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
insecticide metabolic process IEA
Inferred from Electronic Annotation
more info
 
lipid hydroxylation IDA
Inferred from Direct Assay
more info
PubMed 
long-chain fatty acid biosynthetic process TAS
Traceable Author Statement
more info
 
maternal process involved in parturition IEA
Inferred from Electronic Annotation
more info
 
omega-hydroxylase P450 pathway TAS
Traceable Author Statement
more info
 
oxidation-reduction process IDA
Inferred from Direct Assay
more info
PubMed 
porphyrin-containing compound metabolic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of G1/S transition of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
regulation of lipid metabolic process TAS
Traceable Author Statement
more info
 
response to antibiotic IEA
Inferred from Electronic Annotation
more info
 
response to arsenic-containing substance IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to food IEA
Inferred from Electronic Annotation
more info
 
response to herbicide IEA
Inferred from Electronic Annotation
more info
 
response to hyperoxia IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
response to immobilization stress IEA
Inferred from Electronic Annotation
more info
 
response to iron(III) ion IEA
Inferred from Electronic Annotation
more info
 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
response to nematode IEA
Inferred from Electronic Annotation
more info
 
response to virus IEA
Inferred from Electronic Annotation
more info
 
response to vitamin A IEA
Inferred from Electronic Annotation
more info
 
response to wounding IEA
Inferred from Electronic Annotation
more info
 
steroid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
vitamin D metabolic process IC
Inferred by Curator
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
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
xenobiotic monooxygenase
NP_000490.1
NP_001306145.1
NP_001306146.1

NCBI Reference Sequences (RefSeq)

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:40493
    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:40493
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    74719542..74725610 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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