Gene Gene information from NCBI Gene database.
Entrez ID 1545
Gene name Cytochrome P450 family 1 subfamily B member 1
Gene symbol CYP1B1
Synonyms (NCBI Gene)
ASGD6CP1BCYPIB1GLC3AP4501B1
Chromosome 2
Chromosome location 2p22.2
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
SNPs SNP information provided by dbSNP.
30
SNP ID Visualize variation Clinical significance Consequence
rs9282671 A>T Pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign Coding sequence variant, missense variant
rs28936700 C>G,T Pathogenic Coding sequence variant, missense variant
rs28936701 G>A Pathogenic Coding sequence variant, missense variant
rs55771538 C>A,G,T Pathogenic Coding sequence variant, missense variant
rs55989760 C>G,T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
733
miRTarBase ID miRNA Experiments Reference
MIRT004826 hsa-miR-27b-3p ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot 16982751
MIRT002598 hsa-miR-124-3p Microarray 15685193
MIRT019543 hsa-miR-340-5p Sequencing 20371350
MIRT002598 hsa-miR-124-3p Microarray 18668037
MIRT002598 hsa-miR-124-3p Microarray 15685193
Transcription factors Transcription factors information provided by TRRUST V2 database.
9
Transcription factor Regulation Reference
AHR Activation 16115918;19287966
AHR Unknown 12376470;19376845;21742528;24299737
ARNT Activation 16115918;19287966
ARNT Unknown 12376470;19255421;19376845;21742528;24299737
BRCA1 Unknown 16567799
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
95
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0002930 Process Trabecular meshwork development IEA
GO:0002930 Process Trabecular meshwork development ISS
GO:0004497 Function Monooxygenase activity IDA 15258110, 23821647
GO:0004497 Function Monooxygenase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601771 2597 ENSG00000138061
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16678
Protein name Cytochrome P450 1B1 (EC 1.14.14.1) (CYPIB1) (Hydroperoxy icosatetraenoate dehydratase) (EC 4.2.1.152)
Protein function A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins (PubMed:10681376, PubMed:11555828, PubMed:12865317, PubMed:15258110, PubMed:20972997). Mechanistica
PDB 3PM0 , 6IQ5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00067 p450 51 520 Cytochrome P450 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, brain, lung, skeletal muscle, kidney, spleen, thymus, prostate, testis, ovary, small intestine, colon, and peripheral blood leukocytes (PubMed:8175734). Expressed in retinal endothelial cells and umbilical vein endo
Sequence
Sequence length 543
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Steroid hormone biosynthesis
Tryptophan metabolism
Metabolism of xenobiotics by cytochrome P450
Ovarian steroidogenesis
Chemical carcinogenesis - DNA adducts
MicroRNAs in cancer
Chemical carcinogenesis - receptor activation
Chemical carcinogenesis - reactive oxygen species
  Endogenous sterols
Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)
Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)
Defective CYP1B1 causes Glaucoma
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
50
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Anterior segment dysgenesis Likely pathogenic; Pathogenic rs2465883561, rs72549387, rs587778873, rs72549376 RCV002471918
RCV001200036
RCV001200040
RCV001200037
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anterior segment dysgenesis 6 Likely pathogenic; Pathogenic rs104894979, rs778202993, rs2125316235, rs529769268, rs2125314883, rs56175199, rs72481807, rs777515179, rs768047511, rs72466462, rs72549379, rs765666893, rs72549381, rs72549388, rs72480442
View all (47 more)
RCV003466995
RCV003469772
RCV001449671
RCV002506646
RCV002501938
View all (60 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital glaucoma Likely pathogenic; Pathogenic rs778202993, rs757520959, rs56175199, rs72549373, rs777515179, rs72549379, rs765666893, rs72549381, rs72549388, rs72480442, rs148542782, rs2465882994, rs1373671407, rs1450783755, rs28936700
View all (38 more)
RCV001390416
RCV005094805
RCV003594146
RCV003759361
RCV001885179
View all (51 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital ocular coloboma Pathogenic rs587778875 RCV000059339
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 23757320
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 17200336, 18347981
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 19479063
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 16002475, 17980933
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma CTD_human_DG 11376689
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 17363580
★☆☆☆☆
Found in Text Mining only
Adenoma, Basal Cell Adenoma CTD_human_DG 11376689
★☆☆☆☆
Found in Text Mining only
Adenoma, Microcystic Adenoma CTD_human_DG 11376689
★☆☆☆☆
Found in Text Mining only
Adenoma, Monomorphic Adenoma CTD_human_DG 11376689
★☆☆☆☆
Found in Text Mining only
Adenoma, Trabecular Adenoma CTD_human_DG 11376689
★☆☆☆☆
Found in Text Mining only