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

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; AllianceGenome:HGNC:2595
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: mouse all
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Genomic context

Location:: 15q24.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (74719542..74725528, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (72589430..72595416, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (75011883..75017869, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic polymorphisms of CYP1A, CYP1B, CYP2C and risk of cervical cancer among rural population of Maharashtra: Findings from a hospital-based case-control study.
Title: Genetic polymorphisms of CYP1A, CYP1B, CYP2C and risk of cervical cancer among rural population of Maharashtra: Findings from a hospital-based case-control study.
Association of CYP1A1 T3801C (rs4646903) variant with the susceptibility and progression of B-chronic lymphocytic Leukemia (B-CLL) in the Egyptian population.
Title: Association of CYP1A1 T3801C (rs4646903) variant with the susceptibility and progression of B-chronic lymphocytic Leukemia (B-CLL) in the Egyptian population.
Hydration and Structural Adaptations of the Human CYP1A1, CYP1A2, and CYP1B1 Active Sites by Molecular Dynamics Simulations.
Title: Hydration and Structural Adaptations of the Human CYP1A1, CYP1A2, and CYP1B1 Active Sites by Molecular Dynamics Simulations.
CYP1A1 common gene polymorphisms and ischemic stroke risk: a meta-analysis and a structural examination.
Title: CYP1A1 common gene polymorphisms and ischemic stroke risk: a meta-analysis and a structural examination.
Assessment of cytochrome P450 1A1 gene polymorphism and vitamin A serum level in psoriasis vulgaris.
Title: Assessment of cytochrome P450 1A1 gene polymorphism and vitamin A serum level in psoriasis vulgaris.
Association Between CYP1A1 Polymorphisms and Esophageal Cancer Susceptibility: A Case-control Study.
Title: Association Between CYP1A1 Polymorphisms and Esophageal Cancer Susceptibility: A Case-control Study.
Genic-intergenic polymorphisms of CYP1A genes and their clinical impact.
Title: Genic-intergenic polymorphisms of CYP1A genes and their clinical impact.
Altered activities of CYP1A1 and CYP19A1 enzymes in women using SSRI medication during pregnancy.
Title: Altered activities of CYP1A1 and CYP19A1 enzymes in women using SSRI medication during pregnancy.
Contribution of CYP19A1, CYP1A1, and CYP1A2 polymorphisms in coronary heart disease risk among the Chinese Han population.
Title: Contribution of CYP19A1, CYP1A1, and CYP1A2 polymorphisms in coronary heart disease risk among the Chinese Han population.
Involvement of the CYP1A1 inhibition-mediated activation of aryl hydrocarbon receptor in drug-induced hepatotoxicity.
Title: Involvement of the CYP1A1 inhibition-mediated activation of aryl hydrocarbon receptor in drug-induced hepatotoxicity.

Submit: New GeneRIF Correction See all GeneRIFs (663)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Cyp1a1 (e-PCR), detects polymorphism
- UniSTS:461912

CYP1A1_14 (e-PCR)
- UniSTS:277149

SHGC-6128 (e-PCR)
- UniSTS:42435

STS-K03191 (e-PCR)
- UniSTS:37615

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
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 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 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 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 nitric oxide metabolic process	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 3-methylcholanthrene	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 vitamin A	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 tissue remodeling	IEA Inferred from Electronic Annotation more info
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
located_in mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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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

EC 1.14.14.1

EC 4.2.1.152

NP_001306145.1

EC 1.14.14.1

EC 4.2.1.152

NP_001306146.1

EC 1.14.14.1

EC 4.2.1.152

NCBI Reference Sequences (RefSeq)

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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

NG_008431.2 RefSeqGene

Range

2001..7987 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)
NG_061374.1 RefSeqGene

Range

5001..10987

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1262

mRNA and Protein(s)

NM_000499.5 → NP_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

A4F3V9, A4F3W0, P04798, Q53G18

UniProtKB/TrEMBL

A0N0X8, Q53G23

Related

ENSP00000378488.2, ENST00000395048.6

Conserved Domains (1) summary

pfam00067
Location:40 → 499

p450; Cytochrome P450
NM_001319216.2 → NP_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/TrEMBL

E7EMT5, Q0VHD5

Related

ENSP00000378489.4, ENST00000395049.8

Conserved Domains (1) summary

pfam00067
Location:40 → 464

p450; Cytochrome P450
NM_001319217.2 → NP_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

A4F3V9, A4F3W0, P04798, Q53G18

UniProtKB/TrEMBL

A0N0X8, Q53G23

Related

ENSP00000369050.3, ENST00000379727.8

Conserved Domains (1) summary

pfam00067
Location:40 → 499

p450; Cytochrome P450