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    CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 [ Homo sapiens (human) ]

    Gene ID: 1545, updated on 15-Jun-2013
    Official Symbol
    CYP1B1provided by HGNC
    Official Full Name
    cytochrome P450, family 1, subfamily B, polypeptide 1provided by HGNC
    Primary source
    HGNC:2597
    See related
    Ensembl:ENSG00000138061; HPRD:03464; MIM:601771; Vega:OTTHUMG00000100970
    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; 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]
    Location :
    2p22.2
    Sequence :
    Chromosome: 2; NC_000002.11 (38294746..38303323, complement)
    See CYP1B1 in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic Context describing neighboring genes Neighboring gene serine/threonine kinase receptor associated protein pseudogene Neighboring gene regulator of microtubule dynamics 2 Neighboring gene zinc finger protein 430 pseudogene Neighboring gene CYP1B1 antisense RNA 1 Neighboring gene ribosomal protein L7 pseudogene 12

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Theoretical investigation of differences in nitroreduction of aristolochic acid I by cytochromes P450 1A1, 1A2 and 1B1. Jerabek P, et al. Neuro Endocrinol Lett, 2012. PMID 23353840.
    2. [LOH and genetic polymorphysms of breast cancer]. Utsumi T. Nihon Rinsho, 2012 Sep. PMID 23350368.
    3. Menopausal complaints in Slovak midlife women and the impact of CYP1B1 polymorphism on their incidence. Luptáková L, et al. Anthropol Anz, 2012. PMID 23350153.
    4. CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States. Lim SH, et al. Am J Ophthalmol, 2013 Mar. PMID 23218701.
    5. Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma. López-Garrido MP, et al. Ophthalmology, 2013 Apr. PMID 23218183.

    See all (392) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. CYP1B1 glaucoma is not a simple monogenic disease and that CYP1B1 activity levels could influence the phenotype.
      Title: Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma.
    2. Human cytochrome P450 (CYP) 1A1 and 1A2 enzymes were found to be responsible for the aristolochic acid I reductive activation to form AAI-DNA adducts, while its structurally related analogue, CYP1B1 is almost without such activity.
      Title: Theoretical investigation of differences in nitroreduction of aristolochic acid I by cytochromes P450 1A1, 1A2 and 1B1.
    3. This study analyzed CYP1B1, LTBP2, and MYOC mutations in a cohort of primary congenital glaucoma patients from the United States, applying whole exome sequencing
      Title: CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.
    4. The article reviews the relationship between polymorphism of sex hormone-related genes (CYP17, CYP19, CYP1A1, COMPT, ERalpha, ERbeta and others).
      Title: [LOH and genetic polymorphysms of breast cancer].
    5. p.Arg390His mutation might affect the protein structure and, ultimately, the normal function of CYP1B1. We suggest that the c.1169G>A (p.Arg390His) mutation of CYP1B1 may be a risk factor for the development of juvenile-onset open-angle glaucoma.
      Title: Mutations in the CYP1B1 gene may contribute to juvenile-onset open-angle glaucoma.
    6. Mutant CYP1B1, lacking the 17beta estradiol metabolizing activity, can cause MYOC upregulation, which might have a potential implication in glaucoma pathogenesis.
      Title: Molecular basis for involvement of CYP1B1 in MYOC upregulation and its potential implication in glaucoma pathogenesis.
    7. Investigated the incidence of menopausal symptoms among midlife women according to their menopausal status, and evaluated the contribution to their manifestation from CYP1B1 Leu432Val polymorphism as a predisposing factor for menopausal symptoms.
      Title: Menopausal complaints in Slovak midlife women and the impact of CYP1B1 polymorphism on their incidence.
    8. No consistent correlation was observed between the initial clinical manifestations and the CYP1B1 genotype. However, the response to treatment was associated with the CYP1B1 mutant alleles.
      Title: A clinical and molecular genetics study of primary congenital glaucoma in South Korea.
    9. Analyses showed no significant association between the 4326C/G polymorphism and prostate cancer (PCa) aggressiveness. Meta-analysis showed that CYP1B1 4326G allele is significantly associated with an increased PCa risk in Asians and in sporadic PCa cases.
      Title: Prostate cancer risk and aggressiveness associated with the CYP1B1 4326C/G (Leu432Val) polymorphism: a meta-analysis of 2788 cases and 2968 controls.
    10. A meta-analysis found no association between the CYP1B1 Asn453Ser polymorphism and risk of colorectal cancer among Caucasians.
      Title: CYP1B1 Asn453Ser polymorphism and colorectal cancer risk: a meta-analysis.
    Submit: New GeneRIF Correction See all (229)

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

    Review eQTL and phenotype association data in this region using PheGenI

    Glaucoma 3 primary infantile B

    Summary from GeneReviews: Primary Congenital Glaucoma Go to GeneReviews

    Disease Characteristics
    Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haabs striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing (hyperlacrimation). Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated cases, blindness invariably occurs.
    Diagnosis Testing
    The diagnosis of PCG is based on clinical findings. CYP1B1, the gene encoding cytochrome P450 1B1, and LTBP2, encoding latent-transforming growth factor beta-binding protein 2, are the only genes in which mutations are currently known to cause PCG. Two other loci, GLC3B on 1p36 and GLC3C on 14q24.3, have been linked to PCG; the genes in which mutation is causative are not known. In general, the probability of identifying mutations in CYP1B1 increases with the presence of bilateral and severe disease, a positive family history for the disease, and parental consanguinity.
    Genetic Counseling
    PCG caused by CYP1B1 or LTBP2 mutations is inherited in an autosomal recessive manner. Heterozygotes (carriers) are asymptomatic. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal diagnosis for pregnancies at increased risk are possible if both disease-causing alleles of an affected family member have been identified.
    References

    Glaucoma, congenital

    Summary from GeneReviews: Primary Congenital Glaucoma Go to GeneReviews

    Disease Characteristics
    Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haabs striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing (hyperlacrimation). Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated cases, blindness invariably occurs.
    Diagnosis Testing
    The diagnosis of PCG is based on clinical findings. CYP1B1, the gene encoding cytochrome P450 1B1, and LTBP2, encoding latent-transforming growth factor beta-binding protein 2, are the only genes in which mutations are currently known to cause PCG. Two other loci, GLC3B on 1p36 and GLC3C on 14q24.3, have been linked to PCG; the genes in which mutation is causative are not known. In general, the probability of identifying mutations in CYP1B1 increases with the presence of bilateral and severe disease, a positive family history for the disease, and parental consanguinity.
    Genetic Counseling
    PCG caused by CYP1B1 or LTBP2 mutations is inherited in an autosomal recessive manner. Heterozygotes (carriers) are asymptomatic. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal diagnosis for pregnancies at increased risk are possible if both disease-causing alleles of an affected family member have been identified.
    References
    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:107925 BioGRID:115366 SAE1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107925 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    aromatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    electron carrier activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    heme binding IDA
    Inferred from Direct Assay
    more info
    		  
    heme binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    iron ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    monooxygenase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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 
    oxygen binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    arachidonic acid metabolic process TAS
    Traceable Author Statement
    more info
    		  
    cellular aromatic compound metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    endothelial cell migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    endothelial cell-cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    epoxygenase P450 pathway TAS
    Traceable Author Statement
    more info
    		  
    omega-hydroxylase P450 pathway TAS
    Traceable Author Statement
    more info
    		  
    oxidation-reduction process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    response to toxic substance IEA
    Inferred from Electronic Annotation
    more info
    		  
    retina vasculature development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
    		  
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    steroid metabolic process IDA
    Inferred from Direct Assay
    more info
    		  
    toxin metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    visual perception TAS
    Traceable Author Statement
    more info
    		 PubMed 
    xenobiotic metabolic process IDA
    Inferred from Direct Assay
    more info
    		  
    xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    Preferred Names
    cytochrome P450 1B1
    Names
    cytochrome P450 1B1
    microsomal monooxygenase
    xenobiotic monooxygenase
    aryl hydrocarbon hydroxylase
    flavoprotein-linked monooxygenase
    cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)
    NP_000095.2

    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_008386.1 RefSeqGene

      Range
      5001..13579
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000104.3 → NP_000095.2  cytochrome P450 1B1

      Status: REVIEWED

      Source sequence(s)
      AK312686, BC012049, BP326939, BT019979, DA662236, U03688
      Consensus CDS
      CCDS1793.1
      UniProtKB/Swiss-Prot
      Q16678
      UniProtKB/TrEMBL
      Q53TK1
      Related
      ENSP00000260630, OTTHUMP00000126963, ENST00000260630, OTTHUMT00000218580
      Conserved Domains (2) summary
      pfam00067
      Location:51 – 520
      Blast Score: 794
      p450; Cytochrome P450
      cl12078
      Location:52 – 523
      Blast Score: 489
      CypX; Cytochrome P450 [Secondary metabolites biosynthesis, transport, and catabolism]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p10 Primary Assembly

      Range
      38294746..38303323, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      38034680..38043258, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018913.1 Alternate CHM1_1.0

      Range
      38166245..38174823, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01074989.1 (6004..14582) None
    genomic AC009229.5 AAY15039.1
    genomic AF171066.1 AAG43404.1
    genomic AF450132.1 AAM50512.1
    genomic AMYH01010264.1 (103522..112100) None
    genomic AY393998.1 AAQ87875.1
    genomic CH471053.2 EAX00382.1
      EAX00383.1
    genomic DQ016495.1 AAY34975.1
    genomic DQ359216.1 ABC95161.1
    genomic U56438.1 AAC50809.1
    mRNA AK303862.1 BAG64801.1
    mRNA AK312686.1 BAG35566.1
    mRNA BC012049.1 AAH12049.1
    mRNA BP326939.1 None
    mRNA BT019979.1 AAV38782.1
    mRNA BT020001.1 AAV38804.1
    mRNA DA662236.1 None
    mRNA U03688.1 AAA19567.1
    other-genetic JF432813.1 ADZ16030.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16678.2 GenPept UniProtKB/Swiss-Prot:Q16678

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
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        Related UniSTS records

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