Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1545
Gene name Gene Name - the full gene name approved by the HGNC.
Cytochrome P450 family 1 subfamily B member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CYP1B1
Synonyms (NCBI Gene) Gene synonyms aliases
ASGD6, CP1B, CYPIB1, GLC3A, P4501B1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p22.2
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
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.
miRTarBase ID miRNA Experiments Reference
MIRT004826 hsa-miR-27b-3p Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western 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 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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601771 2597 ENSG00000138061
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Anterior segment dysgenesis Irido-corneo-trabecular dysgenesis rs72549387, rs587778873 N/A
anterior segment dysgenesis Anterior segment dysgenesis rs72549387, rs72549376, rs587778873 N/A
Congenital glaucoma congenital glaucoma rs72549387, rs377049098, rs587778873, rs72549380, rs771076928, rs72549376, rs587778875, rs55989760, rs56010818, rs104893629, rs148542782, rs28936700, rs72549389, rs893198212, rs749073455
View all (3 more)
N/A
congenital ocular coloboma Congenital ocular coloboma rs587778875 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer in BRCA2 mutation carriers N/A N/A GWAS
Carcinoma Basal cell carcinoma N/A N/A GWAS
Frontal Fibrosing Alopecia Frontal fibrosing alopecia N/A N/A GWAS
Myopathy myopathy, centronuclear, 5 N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Spontaneous Associate 16978616
Achalasia Addisonianism Alacrimia syndrome Associate 36077068
Adenocarcinoma Associate 19935673
Adenocarcinoma of Lung Associate 34338158
Allanson Pantzar McLeod syndrome Associate 17471339
Anterior segment mesenchymal dysgenesis Associate 24024747, 27777502, 32224865, 37788597
Arthritis Associate 30299251
Arthritis Juvenile Associate 31616008
Arthritis Psoriatic Associate 435889
Arthritis Rheumatoid Inhibit 26838552