CYP1B1 cytochrome P450 family 1 subfamily B member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CYP1B1provided by HGNC
Official Full Name: cytochrome P450 family 1 subfamily B member 1provided by HGNC
Primary source: HGNC:HGNC:2597
See related: Ensembl:ENSG00000138061 MIM:601771; AllianceGenome:HGNC:2597
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: CP1B; ASGD6; GLC3A; CYPIB1; P4501B1
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 enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008]
Expression: Broad expression in prostate (RPKM 32.6), endometrium (RPKM 26.2) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p22.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (38067509..38076151, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (38074395..38083037, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (38294652..38303293, complement)

Chromosome 2 - NC_000002.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes.
Title: Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes.
Inhibition of heme-thiolate monooxygenase CYP1B1 prevents hepatic stellate cell activation and liver fibrosis by accumulating trehalose.
Title: Inhibition of heme-thiolate monooxygenase CYP1B1 prevents hepatic stellate cell activation and liver fibrosis by accumulating trehalose.
CYP1B1-RMDN2 Alzheimer's disease endophenotype locus identified for cerebral tau PET.
Title: CYP1B1-RMDN2 Alzheimer's disease endophenotype locus identified for cerebral tau PET.
Cytochrome P450 1B1 is critical in the development of TNF-alpha, IL-6, and LPS-induced cellular hypertrophy.
Title: Cytochrome P450 1B1 is critical in the development of TNF-α, IL-6, and LPS-induced cellular hypertrophy.
Circ_0020887 Silencing Combats Hypoxic-Induced Cardiomyocyte Injury in an MiR-370-3p/CYP1B1-Dependent Manner.
Title: Circ_0020887 Silencing Combats Hypoxic-Induced Cardiomyocyte Injury in an MiR-370-3p/CYP1B1-Dependent Manner.
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.
CYP1B1 affects the integrity of the blood-brain barrier and oxidative stress in the striatum: An investigation of manganese-induced neurotoxicity.
Title: CYP1B1 affects the integrity of the blood-brain barrier and oxidative stress in the striatum: An investigation of manganese-induced neurotoxicity.
Variable Phenotype of Congenital Corneal Opacities in Biallelic CYP1B1 Pathogenic Variants.
Title: Variable Phenotype of Congenital Corneal Opacities in Biallelic CYP1B1 Pathogenic Variants.
Enhancing the invasive traits of breast cancers by CYP1B1 via regulation of p53 to promote uPAR expression.
Title: Enhancing the invasive traits of breast cancers by CYP1B1 via regulation of p53 to promote uPAR expression.
Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia.
Title: Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia.

Submit: New GeneRIF Correction See all GeneRIFs (409)

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
Anterior segment dysgenesis 6 MedGen: C4310623 OMIM: 617315 GeneReviews: Not available	Compare labs
Glaucoma 3, primary infantile, B MedGen: C1832977 OMIM: 600975 GeneReviews: Primary Congenital Glaucoma	Compare labs
Glaucoma 3A MedGen: C1856439 OMIM: 231300 GeneReviews: Primary Congenital Glaucoma	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Protein	Gene	Interaction	Pubs
Tat	tat	Microarray analysis indicates HIV-1 Tat-induced upregulation of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) in primary human brain microvascular endothelial cells	PubMed

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH92415 (e-PCR)
- UniSTS:89365

RH68906 (e-PCR)
- UniSTS:27975

RH70529 (e-PCR)
- UniSTS:39763

Cyp1b1 (e-PCR), detects polymorphism
- UniSTS:468828

SHGC-12924 (e-PCR)
- UniSTS:83093

CYP1B1_568 (e-PCR)
- UniSTS:277150

RH69650 (e-PCR)
- UniSTS:20683

RH91400 (e-PCR)
- UniSTS:92115

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables estrogen 16-alpha-hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables estrogen 2-hydroxylase activity	IEA Inferred from Electronic Annotation more info
enables heme binding	IDA Inferred from Direct Assay more info	PubMed
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 lyase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables monooxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables monooxygenase activity	IEA Inferred from Electronic Annotation more info
enables monooxygenase activity	TAS Traceable Author Statement more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen	TAS Traceable Author Statement more info
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	IBA Inferred from Biological aspect of Ancestor more info
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	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	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables steroid hydroxylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables steroid hydroxylase activity	IEA Inferred from Electronic Annotation more info
enables testosterone 6-beta-hydroxylase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in arachidonate metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in arachidonate metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within benzene-containing compound metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within blood vessel endothelial cell migration	IEA Inferred from Electronic Annotation more info
involved_in blood vessel morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in blood vessel morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to hydrogen peroxide	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hydrogen peroxide	ISS Inferred from Sequence or Structural Similarity more info
involved_in collagen fibril organization	IEA Inferred from Electronic Annotation more info
involved_in collagen fibril organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in endothelial cell migration	IEA Inferred from Electronic Annotation more info
involved_in endothelial cell migration	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within endothelial cell-cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in epoxygenase P450 pathway	TAS Traceable Author Statement more info
involved_in estrogen metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in estrogen metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in estrogen metabolic process	IEA Inferred from Electronic Annotation more info
involved_in fatty acid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in hormone metabolic process	IEA Inferred from Electronic Annotation more info
involved_in intrinsic apoptotic signaling pathway in response to oxidative stress	IEA Inferred from Electronic Annotation more info
involved_in intrinsic apoptotic signaling pathway in response to oxidative stress	ISS Inferred from Sequence or Structural Similarity more info
involved_in lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in membrane lipid catabolic process	IEA Inferred from Electronic Annotation more info
involved_in membrane lipid catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of NF-kappaB transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell adhesion mediated by integrin	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell adhesion mediated by integrin	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell migration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in nitric oxide biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in nitric oxide biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in olefinic compound metabolic process	IEA Inferred from Electronic Annotation more info
involved_in omega-hydroxylase P450 pathway	TAS Traceable Author Statement more info
involved_in positive regulation of angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of receptor signaling pathway via JAK-STAT	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of receptor signaling pathway via JAK-STAT	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of vascular endothelial growth factor production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vascular endothelial growth factor production	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of reactive oxygen species metabolic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of reactive oxygen species metabolic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within response to toxic substance	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within retina vasculature development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in retinal blood vessel morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in retinal blood vessel morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in retinal metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in retinal metabolic process	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	IBA Inferred from Biological aspect of Ancestor more info
involved_in steroid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in steroid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in sterol metabolic process	TAS Traceable Author Statement more info
involved_in toxin metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within toxin metabolic process	IEA Inferred from Electronic Annotation more info
involved_in trabecular meshwork development	IEA Inferred from Electronic Annotation more info
involved_in trabecular meshwork development	ISS Inferred from Sequence or Structural Similarity more info
involved_in xenobiotic catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in xenobiotic metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic metabolic process	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: cytochrome P450 1B1

Names: aryl hydrocarbon hydroxylase; cytochrome P450, family 1, subfamily B, polypeptide 1; cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile); dioxin-inducible cytochrome p450; flavoprotein-linked monooxygenase; hydroperoxy icosatetraenoate dehydratase; microsomal monooxygenase; xenobiotic monooxygenase

NP_000095.2

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.