Gene:
CYP1B1
cytochrome P450, family 1, subfamily B, polypeptide 1

PharmGKB contains no dosing guidelines for this gene. To report known dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB contains no drug labels with pharmacogenomic information for this gene. To report a drug label with PGx, click here.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.

Position ? Drug ? Relevance ? Strength of
Evidence ?
rs1056836

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2

Download a summary of all Clinical Annotations available.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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PharmGKB contains no genetic tests for this gene. To report genetic tests, click here.

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

Variant?
(build 132)
Alternate Names ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available CA VA
rs1056836 CYP1B1*3, CYP1B1: L432V, CYP1B1:4326 C>G, CYP1B1:L432V, c.-7C>G, c.1294C>G, g.10122C>G, g.17120090C>G, p.Leu432Val
C > G
Missense
Leu432Val
No VIP available No Clinical Annotations available VA
rs1800440
T > C
Not Available
Asn453Ser
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP build 132

Overview

Alternate Names:  CYPIB1; aryl hydrocarbon hydroxylase; cytochrome P450 1B1; cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile); flavoprotein-linked monooxygenase; microsomal monooxygenase; xenobiotic monooxygenase
Alternate Symbols:  CP1B; GLC3A; P4501B1
PharmGKB Accession Id: PA27094

Details

Cytogenetic Location: chr2 : p22.2 - p22.2
GP mRNA Boundary: chr2 : 38294746 - 38303323
GP Gene Boundary: chr2 : 38291746 - 38313323
Strand: minus
Product Name: No data available
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

  1. Estrogen Metabolism Pathway
    Estrogen metabolism in the liver.
  1. Taxane Pathway
    Representation of the genes involved in the metabolism and transport of paclitaxel and docetaxel, and the downstream effects of the drugs

External Pathways

Links to non-PharmGKB pathways.

  1. Endogenous sterols - (Reactome via Pathway Interaction Database)
No related genes are available

Curated Information ?

Evidence Drug Class
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
taxanes

Curated Information ?

Publications related to CYP1B1: 32

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genetic variation in the bioactivation pathway for polycyclic hydrocarbons and heterocyclic amines in relation to risk of colorectal neoplasia. Carcinogenesis. 2011. Wang Hansong, et al. [Article:21081473@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Association between DNA-repair polymorphisms and survival in pancreatic cancer patients treated with combination chemotherapy. Pharmacogenomics. 2011. Giovannetti Elisa, et al. [Article:22026922@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmocoepigenetics: a new approach to predicting individual drug responses and targeting new drugs. Pharmacological reports : PR. 2011. Baer-Dubowska Wanda, et al. [Article:21602587@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Molecular genetics and epigenetics of the cytochrome P450 gene family and its relevance for cancer risk and treatment. Human genetics. 2010. Rodriguez-Antona Cristina, et al. [Article:19823875@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Effect of hormone metabolism genotypes on steroid hormone levels and menopausal symptoms in a prospective population-based cohort of women experiencing the menopausal transition. Menopause (New York, N.Y.). 2010. Rebbeck Timothy R, et al. [Article:20505544@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Changes in the gene expression profile of gastric cancer cells in response to ibuprofen: a gene pathway analysis. The pharmacogenomics journal. 2010. Bonelli P, et al. [Article:20548326@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SNPs in genes coding for ROS metabolism and signalling in association with docetaxel clearance. The pharmacogenomics journal. 2010. Edvardsen H, et al. [Article:20157331@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Taxane Pathway. Pharmacogenetics and genomics. 2009. Oshiro Connie, et al. [Article:21151855@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Epigenetic and microRNA-dependent control of cytochrome P450 expression: a gap between DNA and protein. Pharmacogenomics. 2009. Gomez Alvin, et al. [Article:19604079@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genetic variants contributing to daunorubicin-induced cytotoxicity. Cancer research. 2008. Huang R Stephanie, et al. [Article:18451141@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. Human mutation. 2008. Chavarria-Soley Gabriela, et al. [Article:18470941@PubMed]
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Association of the CYP1B1*3 allele with survival in patients with prostate cancer receiving docetaxel. Molecular cancer therapeutics. 2008. Sissung Tristan M, et al. [Article:18187806@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma. Pharmacogenetics and genomics. 2008. Choudhary Dharamainder, et al. [Article:18622259@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenetic assessment of toxicity and outcome after platinum plus taxane chemotherapy in ovarian cancer: the Scottish Randomised Trial in Ovarian Cancer. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2007. Marsh Sharon, et al. [Article:17925548@PubMed]
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Pharmacogenetic analysis of paclitaxel transport and metabolism genes in breast cancer. The pharmacogenomics journal. 2007. Marsh S, et al. [Article:17224914@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Estrogens, enzyme variants, and breast cancer: a risk model. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 2006. Crooke Philip S, et al. [Article:16985022@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Estrogen sulfation genes, hormone replacement therapy, and endometrial cancer risk. Journal of the National Cancer Institute. 2006. Rebbeck Timothy R, et al. [Article:16985250@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Characterization of common CYP1B1 variants with different capacity for benzo[a]pyrene-7,8-dihydrodiol epoxide formation from benzo[a]pyrene. Cancer research. 2005. Aklillu Eleni, et al. [Article:15958554@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Association of CYP2C8, CYP3A4, CYP3A5, and ABCB1 polymorphisms with the pharmacokinetics of paclitaxel. Clinical cancer research : an official journal of the American Association for Cancer Research. 2005. Henningsson Anja, et al. [Article:16299241@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Functional analysis of six human aryl hydrocarbon receptor variants in a Japanese population. Drug metabolism and disposition: the biological fate of chemicals. 2005. Koyano Satoru, et al. [Article:15860653@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Cytochrome P450 1B1: a novel anticancer therapeutic target. Future oncology (London, England). 2005. McFadyen Morag C E, et al. [Article:16555997@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Coumarins are competitive inhibitors of cytochrome P450 1B1, with equal potency for allelic variants. Pharmacogenetics and genomics. 2005. Mammen Jennifer S, et al. [Article:15861043@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Human extrahepatic cytochromes P450: function in xenobiotic metabolism and tissue-selective chemical toxicity in the respiratory and gastrointestinal tracts. Annual review of pharmacology and toxicology. 2003. Ding Xinxin, et al. [Article:12171978@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Cytochrome P450 1B1 gene polymorphisms and postmenopausal breast cancer risk. Carcinogenesis. 2003. Rylander-Rudqvist Tove, et al. [Article:12844487@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Interactions between genetic polymorphism of cytochrome P450-1B1, sulfotransferase 1A1, catechol-o-methyltransferase and tobacco exposure in breast cancer risk. International journal of cancer. Journal international du cancer. 2003. Saintot Monique, et al. [Article:14520706@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Cytochrome P450 CYP1B1 and catechol O-methyltransferase (COMT) genetic polymorphisms and breast cancer susceptibility in a Turkish population. Archives of toxicology. 2002. Kocaba¿ Neslihan Aygün, et al. [Article:12415427@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population. Molecular pharmacology. 2002. Aklillu Eleni, et al. [Article:11854439@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Nuclear pregnane x receptor and constitutive androstane receptor regulate overlapping but distinct sets of genes involved in xenobiotic detoxification. Molecular pharmacology. 2002. Maglich Jodi M, et al. [Article:12181440@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Cytochrome P450 1B1 (CYP1B1) pharmacogenetics: association of polymorphisms with functional differences in estrogen hydroxylation activity. Cancer research. 2000. Hanna I H, et al. [Article:10910054@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Human CYP1B1 Leu432Val gene polymorphism: ethnic distribution in African-Americans, Caucasians and Chinese; oestradiol hydroxylase activity; and distribution in prostate cancer cases and controls. Pharmacogenetics. 2000. Tang Y M, et al. [Article:11221602@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. American journal of human genetics. 1998. Stoilov I, et al. [Article:9497261@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Association of cytochrome P450 1B1 (CYP1B1) polymorphism with steroid receptor status in breast cancer. Cancer research. 1998. Bailey L R, et al. [Article:9823305@PubMed]
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