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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
880
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Anterior segment dysgenesis Likely pathogenic; Pathogenic rs2465883561, rs72549387, rs587778873, rs72549376 RCV002471918
RCV001200036
RCV001200040
RCV001200037
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
RCV003470876
RCV002503262
RCV003470910
RCV003470921
RCV003470925
RCV003470934
RCV003470935
RCV003471045
RCV003471094
RCV003471234
RCV003465998
RCV004572811
RCV001335112
RCV003466833
RCV003466834
RCV000008175
RCV000416316
RCV001449670
RCV001730655
RCV003466062
RCV003466078
RCV003468667
RCV003468668
RCV003468669
RCV003468671
RCV003468672
RCV003468673
RCV003468674
RCV003468675
RCV003468657
RCV003468658
RCV003468660
RCV003468661
RCV003468662
RCV003468663
RCV003468664
RCV003468665
RCV003468666
RCV003470319
RCV004574094
RCV005030107
RCV004573203
RCV004573365
RCV004556156
RCV004575752
RCV004575753
RCV004575754
RCV004575755
RCV004575756
RCV003466871
RCV003470722
RCV003465364
RCV001449669
RCV002272338
RCV003466929
RCV003466930
RCV002505536
RCV003467568
RCV003467754
RCV003469294
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
RCV002034676
RCV003594165
RCV001919131
RCV001953231
RCV001978292
RCV002664231
RCV002651454
RCV002651455
RCV003031051
RCV001206715
RCV002512894
RCV001201386
RCV003593856
RCV000692947
RCV003593857
RCV000689498
RCV000695529
RCV003594648
RCV003594700
RCV003759882
RCV003779173
RCV005100266
RCV003594698
RCV003759881
RCV003594699
RCV003595113
RCV003595047
RCV003594999
RCV003595291
RCV003593949
RCV003595580
RCV003595581
RCV003595582
RCV003594428
RCV003594524
RCV003758202
RCV003758481
RCV003758578
RCV003759280
RCV003760251
RCV003833110
RCV003856507
RCV002231223
RCV002231224
RCV003758894
RCV000631367
RCV003758916
RCV002228168
RCV002228326
RCV001048522
RCV003594097
Congenital ocular coloboma Pathogenic rs587778875 RCV000059339
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Glaucoma, early-onset, digenic Uncertain significance rs79204362 RCV000008178
Lymphoma Uncertain significance rs9341245 RCV005896181
Myopathy, centronuclear, 5 Uncertain significance rs79204362 RCV001258308
Ovarian cancer Uncertain significance rs9341245 RCV005896180
Associations from Text MiningDisease 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