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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CYP1B1 Gene

protein-coding   GIFtS: 74
GCID: GC02M038206

Cytochrome P450, Family 1, Subfamily B, Polypeptide 1

(Previous names: cytochrome P450, subfamily I (dioxin-inducible), polypeptide...)
(Previous symbol: GLC3A)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Cytochrome P450, Family 1, Subfamily B, Polypeptide 11 2     P4501B12
GLC3A1 2 5     Aryl Hydrocarbon Hydroxylase2
Cytochrome P450, Subfamily I (Dioxin-Inducible), Polypeptide 1 (Glaucoma
3, Primary Infantile)1 2
     Cytochrome P450 1B12
CYPIB12 3     Flavoprotein-Linked Monooxygenase2
EC 1.14.14.13 8     Microsomal Monooxygenase2
CP1B2     Xenobiotic Monooxygenase2

External Ids:    HGNC: 25971   Entrez Gene: 15452   Ensembl: ENSG000001380617   OMIM: 6017715   UniProtKB: Q166783   

Export aliases for CYP1B1 gene to outside databases

Previous GC identifers: GC02M038259 GC02M038441 GC02M038269 GC02M038148 GC02M038034


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CYP1B1 Gene:
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)

GeneCards Summary for CYP1B1 Gene: 
CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1) is a protein-coding gene. Diseases associated with CYP1B1 include primary congenital glaucoma, and sturge-weber syndrome, and among its related super-pathways are Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET) and Cytochrome P450 - arranged by substrate type. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP1A2.

UniProtKB/Swiss-Prot: CP1B1_HUMAN, Q16678
Function: Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is
involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated
compounds, including steroids, fatty acids, and xenobiotics
Function: Participates in the metabolism of an as-yet-unknown biologically active molecule that is a participant
in eye development

summary for CYP1B1 Gene:
Cytochrome P450 (CYP450) enzymes are a diverse group of catalysts that contains 57 members in humans. CYPs
are usually membrane-bound and are localized to the inner mitochondrial or endoplasmic reticular membrane.
CYPs have oxygenase activity and commonly catalyze redox reactions, involving the oxidation of the substrate
and reduction of water. This group of enzymes contain a heme ion within the active site, which is essential
for catalytic activity. CYPs have been found in all organisms tested and are ubiquitously expressed. They
are found at high levels in the liver, where they have an important role in metabolism of drugs and
endogenous toxic compounds (for example bilirubin). Most CYPs can metabolize numerous substrates and this
accounts for their major role in drug interactions. CYPs also have functions in steroid hormone synthesis,
cholesterol synthesis and vitamin D metabolism.

Gene Wiki entry for CYP1B1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CYP1B1 gene promoter:
         AhR   CREB   deltaCREB   MyoD   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): CYP1B1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CYP1B1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYP1B1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p22.2   Ensembl cytogenetic band:  2p22.2   HGNC cytogenetic band: 2p22.2

CYP1B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP1B1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M038206:  view genomic region     (about GC identifiers)

Start:
38,294,116 bp from pter      End:
38,337,044 bp from pter
Size:
42,929 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CP1B1_HUMAN, Q16678 (See protein sequence)
Recommended Name: Cytochrome P450 1B1  
Size: 543 amino acids; 60846 Da
Cofactor: Heme group
Subcellular location: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral
membrane protein
1 PDB 3D structure from and Proteopedia for CYP1B1:
3PM0 (3D)    
Secondary accessions: Q5TZW8 Q93089 Q9H316

Explore the universe of human proteins at neXtProt for CYP1B1: NX_Q16678

Explore proteomics data for CYP1B1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q16678

  • 2 DME Specific Peptides for CYP1B1 (Q16678)
     GKRRCIGE  RRYGDVFQIRLGS 

    CYP1B1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CYP1B1 Protein Expression
    REFSEQ proteins: NP_000095.2  
    ENSEMBL proteins: 
     ENSP00000260630   ENSP00000384972  
    Reactome Protein details: Q16678
    Human Recombinant Protein Products for CYP1B1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for CYP1B1
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for CYP1B1
    GenScript Custom Purified and Recombinant Proteins Services for CYP1B1
    Novus Biologicals CYP1B1 Protein
    Novus Biologicals CYP1B1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CYP1B1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--

    CYP1B1 for ontologies           About GeneDecksing



    CYP1B1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of CYP1B1
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    Abcam antibodies for CYP1B1
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    ThermoFisher Antibodies for CYP1B1
    LSBio Antibodies in human, mouse, rat for CYP1B1 

    Assay Products for CYP1B1: 
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CYP1B1 
    Cloud-Clone Corp. CLIAs for CYP1B1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CYP: Cytochrome P450s

    IUPHAR Guide to PHARMACOLOGY protein family classification: CYP1B1 
    CYP1 family

    3 InterPro protein domains:
     IPR001128 Cyt_P450
     IPR017972 Cyt_P450_CS
     IPR002401 Cyt_P450_E_grp-I

    Graphical View of Domain Structure for InterPro Entry Q16678

    ProtoNet protein and cluster: Q16678

    1 Blocks protein domain: IPB002401 E-class P450 group I signature

    UniProtKB/Swiss-Prot: CP1B1_HUMAN, Q16678
    Similarity: Belongs to the cytochrome P450 family


    CYP1B1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CP1B1_HUMAN, Q16678
    Function: Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is
    involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated
    compounds, including steroids, fatty acids, and xenobiotics
    Function: Participates in the metabolism of an as-yet-unknown biologically active molecule that is a participant
    in eye development
    Catalytic activity: RH + reduced flavoprotein + O(2) = ROH + oxidized flavoprotein + H(2)O
    Enzyme regulation: Enzyme activity is increased by liposomes containing anionic phospholipids, phosphatidic acid
    and cardiolipin
    Biophysicochemical properties: Kinetic parameters: KM=6.0 uM for 17-beta-estradiol; KM=17.0 uM for testosterone;
    KM=24.0 uM for progesterone; Vmax=14.95 nmol/min/mg enzyme for 17-beta-estradiol 4- hydroxylation; Vmax=6.9
    nmol/min/mg enzyme for 17-beta-estradiol 2- hydroxylation; Vmax=36.16 nmol/min/mg enzyme for testosterone 6-beta-
    hydroxylation; Vmax=9.86 nmol/min/mg enzyme for progesterone 6-beta- hydroxylation; Vmax=37.80 nmol/min/mg enzyme
    for progesterone 16-alpha- hydroxylation;
    Induction: By polycyclic aromatic hydrocarbons (PAH) and 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD)

         Genatlas biochemistry entry for CYP1B1:
    cytochrome p450,family I (aromatic compound inducible),member B1,expressed in ocular structures of the anterior
    uveal tract,possibly involved in the metabolism of substances active in the eye growth and differentiation

         Enzyme Number (IUBMB): EC 1.14.14.11 2

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004497monooxygenase activity TAS9097971
    GO:0005506iron ion binding IEA--
    GO:0009055electron carrier activity IEA--
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
    GO:0016712oxidoreductase 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 IDA10871058
         
    CYP1B1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CYP1B1:
     Decreased viability of wild-ty 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cyp1b1):
     homeostasis/metabolism  tumorigenesis  vision/eye 

    CYP1B1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cyp1b1tm1Gonz for CYP1B1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CYP1B1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CYP1B1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CYP1B1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CYP1B1 

    miRNA
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    miRTarBase miRNAs that target CYP1B1:
    hsa-mir-124 (MIRT002598), hsa-mir-27b (MIRT004826)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CYP1B1
    8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate CYP1B1 (see all 20):
    hsa-miR-148b* hsa-miR-429 hsa-miR-513a-5p hsa-miR-373* hsa-miR-380* hsa-miR-4314 hsa-miR-3613-3p hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmidCYP1B1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    OriGene ORF clones in mouse, rat for CYP1B1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CYP1B1 (NM_000104)
    Sino Biological Human cDNA Clone for CYP1B1
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                         Customized lentivirus expression plasmids for stable overexpression of CYP1B1 

    Cell Line
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    Search LifeMap BioReagents cell lines for CYP1B1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP1B1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CYP1B1 About   (see all 19)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)
    Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)0.55
    Benzo[a]pyrene metabolism0.43
    Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)0.55
    Amodiaquine Pathway, Pharmacokinetics0.38
    2Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type0.75
    Phase 1 - Functionalization of compounds0.74
    cytochrome P4500.75
    3Tamoxifen metabolism
    Tamoxifen metabolism0.68
    Estradiol metabolism0.52
    4Biological oxidations
    Biological oxidations0.55
    metapathway biotransformation0.41
    5Tryptophan metabolism
    Tryptophan metabolism0.46
    Tryptophan metabolism0.46

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for CYP1B1
        Estradiol metabolism
    Retinol metabolism
    Benzo[a]pyrene metabolism


    3 GeneGo (Thomson Reuters) Pathways for CYP1B1
        Estradiol metabolism
    Retinol metabolism
    Benzo[a]pyrene metabolism

    5/10 BioSystems Pathways for CYP1B1 (see all 10)
        cytochrome P450
    Tamoxifen metabolism
    Estrogen metabolism
    Benzo(a)pyrene metabolism
    melatonin degradation I


    5/9        Reactome Pathways for CYP1B1 (see all 9)
        Cytochrome P450 - arranged by substrate type
    Metabolism
    Arachidonic acid metabolism
    Endogenous sterols
    Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)

    3 PharmGKB Pathways for CYP1B1
        Amodiaquine Pathway, Pharmacokinetics
    Estrogen Metabolism Pathway
    Taxane Pathway, Pharmacokinetics

    5/6         Kegg Pathways  (Kegg details for CYP1B1) (see all 6):
        Steroid hormone biosynthesis
    Tryptophan metabolism
    Metabolism of xenobiotics by cytochrome P450
    Ovarian steroidogenesis
    Chemical carcinogenesis


    CYP1B1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CYP1B1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/52 Interacting proteins for CYP1B1 (Q166783 ENSP000002606304) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SAE1Q9UBE03, ENSP000002702254I2D: score=2 STRING: ENSP00000270225
    COMTENSP000003545114STRING: ENSP00000354511
    CYP1A1ENSP000003690504STRING: ENSP00000369050
    EPHX1ENSP000002721674STRING: ENSP00000272167
    GSTA1ENSP000003356204STRING: ENSP00000335620
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0006725cellular aromatic compound metabolic process IEA--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0007601visual perception TAS9097971
    GO:0008202steroid metabolic process IDA--

    CYP1B1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CYP1B1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for CYP1B1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    PF 4981517Selective CYP3A4 inhibitor[1390637-82-7]
    MethoxyresorufinFluorometric CYP450 substrate[5725-89-3]
    Letrozole Potent, reversible non-steroidal aromatase inhibitor [112809-51-5]
    ExemestaneSteroidal aromatase (CYP19) inhibitor[107868-30-4]
    PentoxyresorufinFluorometric cytochrome P450 substrate[87687-03-4]

    10/51 HMDB Compounds for CYP1B1 (see all 51)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Melatonin5-Methoxy-N-acetyltryptamine (see all 23)73-31-419919601
    10-HETE10-hydroxyeicosa-all-cis-5,8,11,14-tetraenoate (see all 2)167697-52-1--
    11,12,15-THETA11,12,15-Trihydroxyicosatrienoic acid (see all 5)----
    11,12-Epoxyeicosatrienoic acid10-(3-(2-octenyl)oxiranyl)-5,8-Decadienoic acid (see all 15)81276-02-0--
    11,14,15-THETA(5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoic acid (see all 8)----
    11H-14,15-EETA14,15-Ep-11-HETrE (see all 11)219535-29-2--
    11beta-Hydroxytestosterone11beta,17beta-dihydroxyandrost-4-en-3-one 1816-85-9--
    12,13-EpOMEVernolic acid (see all 12)----
    13-HETE13-hydroxy-5Z,8Z,11Z,14Z-eicosatetraenoate (see all 2)151910-72-4--
    14,15-Epoxy-5,8,11-eicosatrienoic acid(5Z,8Z,11Z)-14,15-Epoxyicosa-5.8.11-trienoic acid (see all 11)81276-03-1--

    10/30 DrugBank Compounds for CYP1B1 (see all 30)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    MelatoninMEL (see all 4)73-31-4enzymesubstrate inhibitor19919601 15616152 19934256
    TamoxifenICI-46474 (see all 3)10540-29-1enzymesubstrate inhibitor12124303 19934256 19515014
    Dasatinib-- 302962-49-8enzymesubstrate18556438 19733976
    ErlotinibCP358774 (see all 2)183321-74-6enzymesubstrate17575239 19733976
    OxaliplatinDiaminocyclohexane Oxalatoplatinum (see all 4)61825-94-3enzymesubstrate15634647 19934256
    AmodiaquineAmodiaquin (see all 4)86-42-0enzymesubstrate19934256
    Arsenic trioxideAcide Arsenieux [French] (see all 11)1327-53-3enzymeinhibitor19934256
    Biotin(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid (see all 7)58-85-5enzymeinducer19934256
    CaffeineCafeina (see all 7)58-08-2enzymesubstrate19934256
    Clozapine-- 5786-21-0enzymeinducer19934256

    10/89 Novoseek inferred chemical compound relationships for CYP1B1 gene (see all 89)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tcdd 87.3 210 9931287 (6), 9525272 (6), 19324859 (5), 11452143 (5) (see all 74)
    ethoxyresorufin 85.5 27 10862525 (1), 11714871 (1), 12818727 (1), 15486049 (1) (see all 26)
    4-methoxyestradiol 84.3 1 10403516 (1)
    4-hydroxyestradiol 83.8 15 10862525 (1), 16893557 (1), 15901486 (1), 17575138 (1) (see all 13)
    benzo(a)pyrene 79.3 94 18372000 (5), 11854143 (5), 16530937 (4), 18336843 (4) (see all 35)
    alpha-naphthoflavone 79.3 9 16893557 (1), 14962508 (1), 12624000 (1), 11858729 (1) (see all 7)
    dibenzo(a,l)pyrene 77.3 16 17623886 (4), 15566942 (2), 16162842 (2), 12230405 (1) (see all 7)
    2-hydroxyestradiol 76.7 7 16893557 (1), 15142886 (1), 18456490 (1), 10426814 (1) (see all 7)
    nmpa 71.8 1 15725615 (1)
    estrogen 71.5 130 15126349 (5), 10910054 (4), 15734954 (3), 15777990 (3) (see all 56)

    3 PharmGKB related drug/compound annotations for CYP1B1 gene    About this table
    Drug/compound PharmGKB Annotation
    docetaxelCA  
    paclitaxelCA  
    taxanesCA  

    Search CenterWatch for drugs/clinical trials and news about CYP1B1 / CP1B1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CYP1B1 gene: 
    NM_000104.3  

    Unigene Cluster for CYP1B1:

    Cytochrome P450, family 1, subfamily B, polypeptide 1
    Hs.154654  [show with all ESTs]
    Unigene Representative Sequence: NM_000104
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000491456 ENST00000260630(uc002rqo.2) ENST00000494864 ENST00000407341
    ENST00000492443 ENST00000462864 ENST00000490576
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate CYP1B1 (see all 20):
    hsa-miR-148b* hsa-miR-429 hsa-miR-513a-5p hsa-miR-373* hsa-miR-380* hsa-miR-4314 hsa-miR-3613-3p hsa-miR-200b
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    Additional mRNA sequence: 

    AK297039.1 AK303862.1 AK312686.1 BC012049.1 BT019979.1 BT020001.1 U03688.1 

    12 DOTS entries:

    DT.418226  DT.100821969  DT.92435805  DT.92435803  DT.102829085  DT.120991308  DT.100693309  DT.100000381 
    DT.100698856  DT.120991321  DT.92435795  DT.97778366 

    24/315 AceView cDNA sequences (see all 315):

    BQ020275 AW305164 AW612109 BE045645 BG697129 AI570794 N64315 AV713283 
    AW090484 NM_000104 T89153 AI185319 AI283699 AA975127 BM673435 BQ029445 
    AW338428 AL157676 AI082041 AI090456 CA390593 AA994810 AA262981 BC012049 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CYP1B1 expression in normal human tissues (normalized intensities)      CYP1B1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATGCTTTTA
    CYP1B1 Expression
    About this image


    CYP1B1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/30 selected tissues (see all 30) fully expand
     
     Kidney (Urinary System)    fully expand to see all 9 entries
             Metanephric Mesenchyme Cells Metanephric Mesenchyme
             Metanephros
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Trigeminal Ganglion   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
             Extraocular Muscles
     
     Mesenchymal Stem Cells (Muscoskeletal System)    fully expand to see all 3 entries
             Human Mesenchymal Stem Cells (hMSC)-1   
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Cholinergic Amacrine Cells Inner Nuclear Layer
             Retina

    See CYP1B1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CYP1B1

    SOURCE GeneReport for Unigene cluster: Hs.154654

    UniProtKB/Swiss-Prot: CP1B1_HUMAN, Q16678
    Tissue specificity: Expressed in many tissues

        SABiosciences Expression via Pathway-Focused PCR Arrays including CYP1B1 (see all 6): 
              Lung Cancer in human mouse rat
              Amino Acid Metabolism I in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat
              Cellular Stress Responses in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CYP1B1 gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyp1b11 , 5 cytochrome P450, family 1, subfamily b, polypeptide more1, 5 81.71(n)1
    81.03(a)1
      17 (50.30 cM)5
    130781  NM_009994.11  NP_034124.11 
     797069535 
    chicken
    (Gallus gallus)
    Aves CYP1B11 cytochrome P450, family 1, subfamily B, polypeptide more 62.14(n)
    53.96(a)
      428832  XM_001233594.1  XP_001233595.1 
    lizard
    (Anolis carolinensis)
    Reptilia CYP1B16
    --
    Uncharacterized protein
    65(a)
    49(a)
    1 ↔ 1
    possible ortholog
    1(232393223-232397185)
    GL343264.1(586666-588231)
    zebrafish
    (Danio rerio)
    Actinopterygii cyp1b12 cytochrome P450, family 1, subfamily B, polypeptide more 74.82(n)   373883  AF235139.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta spo6
    phm6
    (see all 3)
    phantom
    (see all 3)
    23(a)
    22(a)
    (see all 3)
    many ↔ many
    possible ortholog
    (see all 3)
    3L(5583183-5585369)
    X(18579802-18582257)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TT71 Flavonoid 3'-monooxygenase 41(n)
    28.24(a)
      830693  NM_120881.2  NP_196416.1 
    rice
    (Oryza sativa)
    Liliopsida Os10g03201001 hypothetical protein 46.77(n)
    29.3(a)
      4348304  NM_001070873.1  NP_001064338.1 


    ENSEMBL Gene Tree for CYP1B1 (if available)
    TreeFam Gene Tree for CYP1B1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CYP1B1 gene
    CYP1A22  CYP1A12  CYP2D7P12  CYP17A12  CYP21A22  
    18/29 SIMAP similar genes for CYP1B1 using alignment to 12 protein entries:     CP1B1_HUMAN (see all proteins) (see all similar genes):
    DKFZp686I24235    CYP1A2    CYP1A1    CYP2U1    CYP2R1    CYP2J2
    CYP2B6    CYP2D7P1    CYP2A13    CYP2A7    CYP2B    CYP2G1P
    CYP2B7    CYP2E1    CYP2C9    CYP 2C    CYP2A6    CYP2C18

    CYP1B1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: CP1B1_HUMAN, Q16678
    Polymorphism: Various CYP1B1 alleles are known. The sequence shown is that of allele CYP1B1*1


    10/419 SNPs in CYP1B1 are shown (see all 419)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0542534
    Glaucoma 3, primary congenital, A (GLC3A)4--see VAR_0542532 V M mis40--------
    VAR_0542474
    Glaucoma 3, primary congenital, A (GLC3A)4--see VAR_0542472 V L mis40--------
    VAR_0542684
    Glaucoma, primary open angle (POAG)4--see VAR_0542682 D G mis40--------
    VAR_0160344
    Glaucoma 3, primary congenital, A (GLC3A)4--see VAR_0160342 R H mis40--------
    VAR_0542294
    Glaucoma 3, primary congenital, A (GLC3A)4--see VAR_0542292 L P mis40--------
    VAR_0542344
    Glaucoma 3, primary congenital, A (GLC3A)4--see VAR_0542342 Q R mis40--------
    VAR_0542514
    Glaucoma, primary open angle (POAG)4--see VAR_0542512 L F mis40--------
    VAR_0542634
    Glaucoma 3, primary congenital, A (GLC3A)4--see VAR_0542632 G D mis40--------
    VAR_0542554
    Glaucoma 3, primary congenital, A (GLC3A)4--see VAR_0542552 R C mis40--------
    VAR_0012464
    Glaucoma 3, primary congenital, A (GLC3A)4--see VAR_0012462 D N mis40--------

    HapMap Linkage Disequilibrium report for CYP1B1 (38294116 - 38337044 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CYP1B1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2659660CNV Deletion23128226


    Human Gene Mutation Database (HGMD): CYP1B1

    Locus Specific Mutation Databases (LSDB): CYP1B1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601771   
    OMIM disorders: 231300  604229  137760  137750  
    UniProtKB/Swiss-Prot: CP1B1_HUMAN, Q16678
  • Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]: An autosomal recessive form of primary congenital
    glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood,
    large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular
    meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. Note=The disease
    is caused by mutations affecting distinct genetic loci, including the gene represented in this entry
  • Glaucoma, primary open angle (POAG) [MIM:137760]: A complex and genetically heterogeneous ocular disorder
    characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of
    the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any
    intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and
    irreversible optic nerve damage has already taken place. In some cases, POAG shows digenic inheritance involving
    mutations in CYP1B1 and MYOC genes. Note=Disease susceptibility is associated with variations affecting the gene
    represented in this entry. CYP1B1 mutations have been reported to pose a significant risk for early-onset POAG
    and also modify glaucoma phenotype in patients who do not carry a MYOC mutation (PubMed:15342693)
  • Glaucoma 1, open angle, A (GLC1A) [MIM:137750]: A form of primary open angle glaucoma (POAG). POAG is
    characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of
    the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any
    intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and
    irreversible optic nerve damage has already taken place. Note=The gene represented in this entry acts as a
    disease modifier. Digenic mutations in CYP1B1 and MYOC have been found in a family segregating both primary
    adult-onset and juvenile forms of open angle glaucoma (PubMed:11774072). All affected family members with
    mutations in both MYOC and CYP1B1 had juvenile glaucoma, whereas those with only the MYOC mutation had the
    adult-onset form (PubMed:11774072)
  • Peters anomaly (PAN) [MIM:604229]: Consists of a central corneal leukoma, absence of the posterior
    corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central
    aspect of the posterior cornea. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 20/102 diseases for CYP1B1 (see all 102):    About MalaCards
    primary congenital glaucoma    sturge-weber syndrome    glaucoma, primary open angle, juvenile-onset    glaucoma, primary open angle, adult-onset
    cyp1b1-related primary congenital glaucoma    glaucoma 3a, primary congenital    glaucoma    juvenile glaucoma
    buphthalmos    primary open angle glaucoma    peters anomaly    weber syndrome
    open-angle glaucoma    axenfeld-rieger syndrome    glaucoma, congenital    early-onset glaucoma
    mycetoma    germ cell cancer    primary angle-closure glaucoma    estrogen-receptor negative breast cancer

    3 diseases from the University of Copenhagen DISEASES database for CYP1B1:
    Glaucoma     Breast cancer     Axenfeld-Rieger syndrome

    CYP1B1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/48 Novoseek inferred disease relationships for CYP1B1 gene (see all 48)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glaucoma, congenital 93.7 126 9097971 (4), 18852424 (4), 15475877 (3), 19536304 (3) (see all 70)
    anomaly peters 72.9 8 16735991 (3), 15682044 (3), 20151268 (1), 16638984 (1)
    breast cancer 63.1 150 20093341 (6), 15734954 (6), 9823305 (5), 20037207 (5) (see all 55)
    glaucoma 61.2 46 11774072 (4), 19622003 (3), 15342693 (2), 19668563 (2) (see all 29)
    rieger syndrome 61.2 3 16735994 (2), 17106362 (1)
    primary open angle glaucoma 60.3 5 16862072 (1), 19096718 (1), 20198978 (1), 17361544 (1) (see all 5)
    glaucoma open-angle 54.4 14 16319821 (2), 19793111 (2), 17563717 (2), 15342693 (1) (see all 9)
    endometrial cancer 54.1 32 14656940 (6), 12873984 (6), 15285606 (3), 20492382 (3) (see all 11)
    cancer 48.5 52 16120791 (3), 9230218 (3), 12869499 (2), 16547151 (2) (see all 29)
    chemical carcinogenesis 48 1 12520071 (1)

    GeneTests: CYP1B1
    GeneReviews: CYP1B1
    Genetic Association Database (GAD): CYP1B1
    Human Genome Epidemiology (HuGE) Navigator: CYP1B1 (271 documents)

    Export disorders for CYP1B1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CYP1B1 gene, integrated from 9 sources (see all 812):
    (articles sorted by number of sources associating them with CYP1B1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of cytochrome P450 1B1 (CYP1B1) polymorphism with steroid receptor status in breast cancer. (PubMed id 9823305)1, 2, 4, 9 Bailey L.R.... Parl F.F. (1998)
    2. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. (PubMed id 11774072)1, 2, 4, 9 Vincent A.L.... Heon E. (2002)
    3. CYP1B1 mutations in French patients with early-onset primary open- angle glaucoma. (PubMed id 15342693)1, 2, 4, 9 Melki R.... Garchon H.-J. (2004)
    4. Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients. (PubMed id 15475877)1, 2, 4, 9 Reddy A.B....Chakrabarti S. (2004)
    5. Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2. (PubMed id 8175734)1, 2, 3, 9 Sutter T.R.... Greenlee W.F. (1994)
    6. Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. (PubMed id 16862072)1, 2, 4, 9 Lopez-Garrido M.P....Escribano J. (2006)
    7. Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population. (PubMed id 11854439)1, 2, 4, 9 Aklillu E....Ingelman-Sundberg M. (2002)
    8. Primary role of CYP1B1 in Indian juvenile-onset POAG patients. (PubMed id 16688110)1, 2, 4 Acharya M.... Ray K. (2006)
    9. Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients. (PubMed id 17563717)1, 4, 9 Kumar A....Dorairaj S.K. (2007)
    10. Association of single nucleotide polymorphisms in CYP 1B1 and COMT genes with breast cancer susceptibility in Indian women. (PubMed id 20037207)1, 4, 9 Yadav S....Singh M.P. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1545 HGNC: 2597 AceView: CYP1B1 Ensembl:ENSG00000138061 euGenes: HUgn1545
    ECgene: CYP1B1 Kegg: 1545 H-InvDB: CYP1B1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CYP1B1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CYP1B1 Genetics and Cytogenetics in Oncology and Haematology
    Cytochrome P450 Allele Nomenclature Committeehttp://www.cypalleles.ki.se/cyp1b1.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYP1B1
    NIEHS-SNPshttp://egp.gs.washington.edu/data/cyp1b1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CYP1B1 gene:
    Search GeneIP for patents involving CYP1B1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP1B1
     SwitchGear 3'UTR luciferase reporter plasmids for CYP1B1
     SwitchGear Promoter luciferase reporter plasmids for CYP1B1
     ThermoFisher Antibodies for CYP1B1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP1B1
     inGenious Targeting Laboratory - Custom generated mouse model solutions for CYP1B1
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CYP1B1
    Customized:
     lentivirus for stable overexpression of CYP1B1
     lentivirus expression plasmids for stable overexpression of CYP1B1
     adenovirus for overexpression of CYP1B1
     LSBio Antibodies in human, mouse, rat for CYP1B1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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