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Aliases for CYP1B1 Gene

Aliases for CYP1B1 Gene

  • Cytochrome P450 Family 1 Subfamily B Member 1 2 3 5
  • Cytochrome P450, Subfamily I (Dioxin-Inducible), Polypeptide 1 (Glaucoma 3, Primary Infantile) 2 3
  • Cytochrome P450, Family 1, Subfamily B, Polypeptide 1 2 3
  • EC 1.14.14.1 4 61
  • CYPIB1 3 4
  • Flavoprotein-Linked Monooxygenase 3
  • Aryl Hydrocarbon Hydroxylase 3
  • Microsomal Monooxygenase 3
  • Xenobiotic Monooxygenase 3
  • Cytochrome P450 1B1 3
  • P4501B1 3
  • GLC3A 3
  • CP1B 3

External Ids for CYP1B1 Gene

Previous HGNC Symbols for CYP1B1 Gene

  • GLC3A

Previous GeneCards Identifiers for CYP1B1 Gene

  • GC02M038259
  • GC02M038441
  • GC02M038269
  • GC02M038206
  • GC02M038148
  • GC02M038295

Summaries for CYP1B1 Gene

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 Member 1) is a Protein Coding gene. Diseases associated with CYP1B1 include Glaucoma 3A, Primary Open Angle, Congenital, Juvenile, Or Adult Onset and Peters Anomaly. Among its related pathways are Irinotecan Pathway, Pharmacokinetics and Metabolism of xenobiotics by cytochrome P450. GO annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP1A1.

UniProtKB/Swiss-Prot for CYP1B1 Gene

  • 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, retinoid and xenobiotics. Preferentially oxidizes 17beta-estradiol to the carcinogenic 4-hydroxy derivative, and a variety of procarcinogenic compounds to their activated forms, including polycyclic aromatic hydrocarbons. Promotes angiogenesis by removing cellular oxygenation products, thereby decreasing oxidative stress, release of antiangiogenic factor THBS2, then allowing endothelial cells migration, cell adhesion and capillary morphogenesis. These changes are concommitant with the endothelial nitric oxide synthase activity and nitric oxide synthesis. Plays an important role in the regulation of perivascular cell proliferation, migration, and survival through modulation of the intracellular oxidative state and NF-kappa-B expression and/or activity, during angiogenesis. Contributes to oxidative homeostasis and ultrastructural organization and function of trabecular meshwork tissue through modulation of POSTN expression.

Tocris 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.

Gene Wiki entry for CYP1B1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP1B1 Gene

Genomics for CYP1B1 Gene

Regulatory Elements for CYP1B1 Gene

Enhancers for CYP1B1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around CYP1B1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CYP1B1 Gene

Chromosome:
2
Start:
38,066,973 bp from pter
End:
38,109,902 bp from pter
Size:
42,930 bases
Orientation:
Minus strand

Genomic View for CYP1B1 Gene

Genes around CYP1B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP1B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP1B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP1B1 Gene

Proteins for CYP1B1 Gene

  • Protein details for CYP1B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16678-CP1B1_HUMAN
    Recommended name:
    Cytochrome P450 1B1
    Protein Accession:
    Q16678
    Secondary Accessions:
    • Q5TZW8
    • Q93089
    • Q9H316

    Protein attributes for CYP1B1 Gene

    Size:
    543 amino acids
    Molecular mass:
    60846 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CYP1B1 Gene

neXtProt entry for CYP1B1 Gene

Selected DME Specific Peptides for CYP1B1 Gene

Post-translational modifications for CYP1B1 Gene

  • Ubiquitination at Lys 142 and Lys 275
  • Modification sites at PhosphoSitePlus

Other Protein References for CYP1B1 Gene

Domains & Families for CYP1B1 Gene

Gene Families for CYP1B1 Gene

Protein Domains for CYP1B1 Gene

Suggested Antigen Peptide Sequences for CYP1B1 Gene

Graphical View of Domain Structure for InterPro Entry

Q16678

UniProtKB/Swiss-Prot:

CP1B1_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP1B1: view

Function for CYP1B1 Gene

Molecular function for CYP1B1 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=6.0 uM for 17-beta-estradiol {ECO:0000269 PubMed:10426814, ECO:0000269 PubMed:15258110}; KM=17.0 uM for testosterone {ECO:0000269 PubMed:10426814, ECO:0000269 PubMed:15258110}; KM=24.0 uM for progesterone {ECO:0000269 PubMed:10426814, ECO:0000269 PubMed:15258110}; KM=18.5 uM for retinol {ECO:0000269 PubMed:10426814, ECO:0000269 PubMed:15258110}; KM=8.5 uM for retinal {ECO:0000269 PubMed:10426814, ECO:0000269 PubMed:15258110}; KM=29.8 uM for arachidonic acid {ECO:0000269 PubMed:10426814, ECO:0000269 PubMed:15258110}; KM=212.8 uM for 7,12-dimethyltetraphene {ECO:0000269 PubMed:10426814, ECO:0000269 PubMed:15258110}; Vmax=14.95 nmol/min/mg enzyme for 17-beta-estradiol 4- hydroxylation {ECO:0000269 PubMed:10426814, ECO:0000269 PubMed:15258110}; Vmax=6.9 nmol/min/mg enzyme for 17-beta-estradiol 2- hydroxylation {ECO:0000269 PubMed:10426814, ECO:0000269 PubMed:15258110}; Vmax=36.16 nmol/min/mg enzyme for testosterone 6-beta- hydroxylation {ECO:0000269 PubMed:10426814, ECO:0000269 PubMed:15258110}; Vmax=9.86 nmol/min/mg enzyme for progesterone 6-beta- hydroxylation {ECO:0000269 PubMed:10426814, ECO:0000269 PubMed:15258110}; Vmax=37.80 nmol/min/mg enzyme for progesterone 16-alpha- hydroxylation {ECO:0000269 PubMed:10426814, ECO:0000269 PubMed:15258110}; Note=kcat is 0.15 min(-1) for retinol, 0.77 min(-1) for retinal, 2.86 min(-1) for 7,12-dimethyltetraphene, 0.48 min(-1) for arachidonic acid.;
UniProtKB/Swiss-Prot CatalyticActivity:
RH + [reduced NADPH--hemoprotein reductase] + O(2) = ROH + [oxidized NADPH--hemoprotein reductase] + H(2)O.
UniProtKB/Swiss-Prot EnzymeRegulation:
Enzyme activity is increased by liposomes containing anionic phospholipids, phosphatidic acid and cardiolipin. Inhibited by naringenin with an IC(50) of 5 uM.
UniProtKB/Swiss-Prot 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, retinoid and xenobiotics. Preferentially oxidizes 17beta-estradiol to the carcinogenic 4-hydroxy derivative, and a variety of procarcinogenic compounds to their activated forms, including polycyclic aromatic hydrocarbons. Promotes angiogenesis by removing cellular oxygenation products, thereby decreasing oxidative stress, release of antiangiogenic factor THBS2, then allowing endothelial cells migration, cell adhesion and capillary morphogenesis. These changes are concommitant with the endothelial nitric oxide synthase activity and nitric oxide synthesis. Plays an important role in the regulation of perivascular cell proliferation, migration, and survival through modulation of the intracellular oxidative state and NF-kappa-B expression and/or activity, during angiogenesis. Contributes to oxidative homeostasis and ultrastructural organization and function of trabecular meshwork tissue through modulation of POSTN expression.
UniProtKB/Swiss-Prot Induction:
By polycyclic aromatic hydrocarbons (PAH) and 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD).

Enzyme Numbers (IUBMB) for CYP1B1 Gene

Gene Ontology (GO) - Molecular Function for CYP1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity TAS 9097971
GO:0005506 iron ion binding IEA --
GO:0016712 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 10871058
GO:0019825 oxygen binding TAS 9097971
GO:0020037 heme binding TAS 9097971
genes like me logo Genes that share ontologies with CYP1B1: view
genes like me logo Genes that share phenotypes with CYP1B1: view

Human Phenotype Ontology for CYP1B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYP1B1 Gene

MGI Knock Outs for CYP1B1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for CYP1B1 Gene

Localization for CYP1B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP1B1 Gene

Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CYP1B1 Gene COMPARTMENTS Subcellular localization image for CYP1B1 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 5
cytosol 2
extracellular 2
nucleus 2
golgi apparatus 1
lysosome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CYP1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0031090 organelle membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IBA --
genes like me logo Genes that share ontologies with CYP1B1: view

Pathways & Interactions for CYP1B1 Gene

genes like me logo Genes that share pathways with CYP1B1: view

Interacting Proteins for CYP1B1 Gene

Gene Ontology (GO) - Biological Process for CYP1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0002930 trabecular meshwork development ISS --
GO:0006725 cellular aromatic compound metabolic process IEA --
GO:0006805 xenobiotic metabolic process IDA 22888116
GO:0006809 nitric oxide biosynthetic process ISS --
genes like me logo Genes that share ontologies with CYP1B1: view

No data available for SIGNOR curated interactions for CYP1B1 Gene

Drugs & Compounds for CYP1B1 Gene

(86) Drugs for CYP1B1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Docetaxel Approved May 1996, Investigational Pharma Enzyme, substrate, inhibitor, inducer Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes, Microtubule stabilizer 1880
Paclitaxel Approved, Vet_approved Pharma Enzyme, inhibitor Tubulin and Bcl2 inhibitor, Taxanes 2691
Estradiol Approved, Investigational, Vet_approved Pharma Enzyme, substrate Sex hormone 1250
Estrone Approved Pharma Agonist, Enzyme, substrate Estrogenic hormone 20
Flutamide Approved Pharma Enzyme, substrate, inhibitor 62

(79) Additional Compounds for CYP1B1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-hydroxyestradiol
  • (17b)-Estra-1,3, 5(10)-triene-2,3,17-triol
  • (17beta)- Estra-1,3, 5 (10)-triene-2,3,17-triol
  • (17beta)-Estra-1,3,5(10)-triene-2,3,17-triol
  • 1,3,5(10)-Estratriene-2,3,17Beta-triol
  • 17beta-2-Hydroxyestradiol
362-05-0
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
11,12,15-THETA
  • 11,12,15-TriHETRE
  • 11,12,15-Trihydroxyicosatrienoate
  • 11,12,15-Trihydroxyicosatrienoic acid
  • 11,12,15S-Trihydroxy-5Z,8Z,13E-eicosatrienoate
  • 11,12,15S-Trihydroxy-5Z,8Z,13E-eicosatrienoic acid
11,12-Epoxyeicosatrienoic acid
  • (5Z,8Z,14Z)-11,12-Epoxyeicosa-5,8,14-trienoate
  • (5Z,8Z,14Z)-11,12-Epoxyeicosa-5,8,14-trienoic acid
  • (5Z,8Z,14Z)-11,12-Epoxyicosa-5,8,14-trienoate
  • (5Z,8Z,14Z)-11,12-Epoxyicosa-5,8,14-trienoic acid
  • 10-(3-(2-Octenyl)oxiranyl)-5,8-Decadienoate
81276-02-0
11,14,15-THETA
  • (5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoate
  • (5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoic acid
  • (5Z,8Z,12E)-11,14,15-Trihydroxyicosa-5,8,12-trienoate
  • (5Z,8Z,12E)-11,14,15-Trihydroxyicosa-5,8,12-trienoic acid
  • 11,14,15-Trihydroxy-5Z,8Z,12E-eicosatrienoate

(5) Tocris Compounds for CYP1B1 Gene

Compound Action Cas Number
Anastrozole Potent aromatase (CYP19) inhibitor 120511-73-1
Ketoconazole Cytochrome P450c17 inhibitor 65277-42-1
Letrozole Potent, reversible non-steroidal aromatase inhibitor 112809-51-5
Metyrapone 11-beta hydroxylase inhibitor 54-36-4
TMS Cytochrome P450 1B1 inhibitor 24144-92-1

(1) ApexBio Compounds for CYP1B1 Gene

Compound Action Cas Number
8-Methoxypsoralen CYP inhibitor 298-81-7
genes like me logo Genes that share compounds with CYP1B1: view

Transcripts for CYP1B1 Gene

mRNA/cDNA for CYP1B1 Gene

Unigene Clusters for CYP1B1 Gene

Cytochrome P450, family 1, subfamily B, polypeptide 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP1B1 Gene

No ASD Table

Relevant External Links for CYP1B1 Gene

GeneLoc Exon Structure for
CYP1B1
ECgene alternative splicing isoforms for
CYP1B1

Expression for CYP1B1 Gene

mRNA expression in normal human tissues for CYP1B1 Gene

mRNA differential expression in normal tissues according to GTEx for CYP1B1 Gene

This gene is overexpressed in Whole Blood (x4.2).

Protein differential expression in normal tissues from HIPED for CYP1B1 Gene

This gene is overexpressed in Nasal epithelium (65.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CYP1B1 Gene



NURSA nuclear receptor signaling pathways regulating expression of CYP1B1 Gene:

CYP1B1

SOURCE GeneReport for Unigene cluster for CYP1B1 Gene:

Hs.154654

mRNA Expression by UniProt/SwissProt for CYP1B1 Gene:

Q16678-CP1B1_HUMAN
Tissue specificity: Expressed in many tissues.
genes like me logo Genes that share expression patterns with CYP1B1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for CYP1B1 Gene

Orthologs for CYP1B1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CYP1B1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CYP1B1 34
  • 85.1 (n)
  • 82.56 (a)
CYP1B1 35
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYP1B1 34
  • 87.17 (n)
  • 84.35 (a)
CYP1B1 35
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cyp1b1 34
  • 81.71 (n)
  • 81.03 (a)
Cyp1b1 16
Cyp1b1 35
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CYP1B1 34
  • 99.26 (n)
  • 98.34 (a)
CYP1B1 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyp1b1 34
  • 82.01 (n)
  • 80.29 (a)
oppossum
(Monodelphis domestica)
Mammalia CYP1B1 35
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYP1B1 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves CYP1B1 34
  • 75.45 (n)
  • 71.11 (a)
CYP1B1 35
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYP1B1 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490477 34
  • 63.02 (n)
  • 61.16 (a)
zebrafish
(Danio rerio)
Actinopterygii cyp1b1 34
  • 61.72 (n)
  • 58.79 (a)
cyp1b1 34
cyp1b1 35
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta spo 35
  • 24 (a)
ManyToMany
spok 35
  • 23 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons TT7 34
  • 42.46 (n)
  • 29.64 (a)
rice
(Oryza sativa)
Liliopsida Os10g0320100 34
  • 47.76 (n)
  • 30.04 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 28 (a)
ManyToMany
-- 35
  • 21 (a)
ManyToMany
Species where no ortholog for CYP1B1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CYP1B1 Gene

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

Paralogs for CYP1B1 Gene

Paralogs for CYP1B1 Gene

genes like me logo Genes that share paralogs with CYP1B1: view

Variants for CYP1B1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CYP1B1 Gene

CP1B1_HUMAN-Q16678
Various CYP1B1 alleles are known. The sequence shown is that of allele CYP1B1*1.

Sequence variations from dbSNP and Humsavar for CYP1B1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_001244 Glaucoma 3, primary congenital, A (GLC3A), Glaucoma, primary open angle (POAG)
rs55771538 Glaucoma 3, primary congenital, A (GLC3A) 38,071,261(-) TCGTG(C/G/T)GGAGG reference, missense
VAR_001246 Glaucoma 3, primary congenital, A (GLC3A)
rs28936701 Glaucoma 3, primary congenital, A (GLC3A) 38,070,949(-) AAAGG(C/T)GGTGC reference, missense
rs1056836 - 38,071,060(-) ACCCA(C/G)TGAAG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CYP1B1 Gene

Variant ID Type Subtype PubMed ID
esv2659660 CNV deletion 23128226

Variation tolerance for CYP1B1 Gene

Residual Variation Intolerance Score: 74.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.01; 92.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYP1B1 Gene

Human Gene Mutation Database (HGMD)
CYP1B1
The Human Cytochrome P450 Allele Nomenclature Database
CYP1B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP1B1

Disorders for CYP1B1 Gene

MalaCards: The human disease database

(25) MalaCards diseases for CYP1B1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glaucoma 3a, primary open angle, congenital, juvenile, or adult onset
  • glaucoma, congenital
peters anomaly
  • peters-plus syndrome
glaucoma 1a, primary open angle
  • primary open angle glaucoma juvenile onset 1
glaucoma 1, open angle, e
  • primary open angle glaucoma
cyp1b1-related primary congenital glaucoma
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CP1B1_HUMAN
  • 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. {ECO:0000269 PubMed:11774072}. 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). {ECO:0000269 PubMed:11774072}.
  • 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. {ECO:0000269 PubMed:10227395, ECO:0000269 PubMed:10655546, ECO:0000269 PubMed:11184479, ECO:0000269 PubMed:11527932, ECO:0000269 PubMed:11980847, ECO:0000269 PubMed:12036985, ECO:0000269 PubMed:12525557, ECO:0000269 PubMed:14635112, ECO:0000269 PubMed:14640114, ECO:0000269 PubMed:15255109, ECO:0000269 PubMed:15342693, ECO:0000269 PubMed:15475877, ECO:0000269 PubMed:16490498, ECO:0000269 PubMed:16735994, ECO:0000269 PubMed:9463332, ECO:0000269 PubMed:9497261}. 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. {ECO:0000269 PubMed:11774072, ECO:0000269 PubMed:15342693, ECO:0000269 PubMed:16688110, ECO:0000269 PubMed:16862072}. 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). {ECO:0000269 PubMed:15342693}.
  • Peters anomaly (PETAN) [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. {ECO:0000269 PubMed:11403040}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CYP1B1

Genetic Association Database (GAD)
CYP1B1
Human Genome Epidemiology (HuGE) Navigator
CYP1B1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYP1B1
genes like me logo Genes that share disorders with CYP1B1: view

No data available for Genatlas for CYP1B1 Gene

Publications for CYP1B1 Gene

  1. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. (PMID: 11774072) Vincent A.L. … Heon E. (Am. J. Hum. Genet. 2002) 3 4 22 46 65
  2. Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population. (PMID: 11854439) Aklillu E. … Ingelman-Sundberg M. (Mol. Pharmacol. 2002) 3 4 22 46 65
  3. Association of cytochrome P450 1B1 (CYP1B1) polymorphism with steroid receptor status in breast cancer. (PMID: 9823305) Bailey L.R. … Parl F.F. (Cancer Res. 1998) 3 4 22 46 65
  4. Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2. (PMID: 8175734) Sutter T.R. … Greenlee W.F. (J. Biol. Chem. 1994) 2 3 4 22 65
  5. Polymorphisms of estrogen-related genes jointly confer susceptibility to human spermatogenic defect. (PMID: 18980759) Su M.T. … Kuo P.L. (Fertil. Steril. 2010) 3 22 46 65

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