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

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: all
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Genomic context

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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Habitual coffee consumption and risk of dementia in older persons: modulation by CYP1A2 polymorphism.
Title: Habitual coffee consumption and risk of dementia in older persons: modulation by CYP1A2 polymorphism.
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.
The influence of the CYP1A2-163 C>A polymorphism on the hemostatic response to exercise following caffeine supplementation.
Title: The influence of the CYP1A2-163 C>A polymorphism on the hemostatic response to exercise following caffeine supplementation.
CYP1A2 Genetic Variation, Coffee Intake, and Kidney Dysfunction.
Title: CYP1A2 Genetic Variation, Coffee Intake, and Kidney Dysfunction.
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.
Functional single-nucleotide polymorphism (rs762551) in CYP1A2 gene affects white coffee intake in healthy 20- to 40-year-old adults.
Title: Functional single-nucleotide polymorphism (rs762551) in CYP1A2 gene affects white coffee intake in healthy 20- to 40-year-old adults.
Relationship between Nutrition, Lifestyle, and Neurodegenerative Disease: Lessons from ADH1B, CYP1A2 and MTHFR.
Title: Relationship between Nutrition, Lifestyle, and Neurodegenerative Disease: Lessons from ADH1B, CYP1A2 and MTHFR.
Evaluation of CYP1A2 activity: Relationship between the endogenous urinary 6-hydroxymelatonin to melatonin ratio and paraxanthine to caffeine ratio in dried blood spots.
Title: Evaluation of CYP1A2 activity: Relationship between the endogenous urinary 6-hydroxymelatonin to melatonin ratio and paraxanthine to caffeine ratio in dried blood spots.
CYP1A2 polymorphisms modify the association of habitual coffee consumption with appetite, macronutrient intake, and body mass index: results from an observational cohort and a cross-over randomized study.
Title: CYP1A2 polymorphisms modify the association of habitual coffee consumption with appetite, macronutrient intake, and body mass index: results from an observational cohort and a cross-over randomized study.
Caffeine, genetic variation and anaerobic performance in male athletes: a randomized controlled trial.
Title: Caffeine, genetic variation and anaerobic performance in male athletes: a randomized controlled trial.

Submit: New GeneRIF Correction See all GeneRIFs (310)

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

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 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

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

RH80030 (e-PCR)
- UniSTS:87680

SGC35304 (e-PCR)
- UniSTS:24464

GDB:631802 (e-PCR)
- UniSTS:158429

STS-M31667 (e-PCR)
- UniSTS:14563

G10504 (e-PCR)
- UniSTS:18407

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables caffeine oxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables demethylase activity	IDA Inferred from Direct Assay more info	PubMed
enables electron transfer activity	TAS Traceable Author Statement more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
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 heme binding	IDA Inferred from Direct Assay more info	PubMed
enables hydroperoxy icosatetraenoate dehydratase activity	IEA Inferred from Electronic Annotation more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables monooxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables monooxygenase activity	IDA Inferred from Direct Assay 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 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
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

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

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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

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.