CYP1B1 (cytochrome P450 family 1 subfamily B member 1)

2003-02-01  

Identity

HGNC
LOCATION
2p22.2
LOCUSID
ALIAS
ASGD6,CP1B,CYPIB1,GLC3A,P4501B1
FUSION GENES

Other Information

Locus ID:

NCBI: 1545
MIM: 601771
HGNC: 2597
Ensembl: ENSG00000138061

Variants:

dbSNP: 1545
ClinVar: 1545
TCGA: ENSG00000138061
COSMIC: CYP1B1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138061ENST00000490576A0A087WUQ7
ENSG00000138061ENST00000494864A0A087WW26
ENSG00000138061ENST00000610745Q16678
ENSG00000138061ENST00000614273Q16678

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Steroid hormone biosynthesisKEGGko00140
Tryptophan metabolismKEGGko00380
Metabolism of xenobiotics by cytochrome P450KEGGko00980
Steroid hormone biosynthesisKEGGhsa00140
Tryptophan metabolismKEGGhsa00380
Metabolism of xenobiotics by cytochrome P450KEGGhsa00980
Chemical carcinogenesisKEGGhsa05204
Chemical carcinogenesisKEGGko05204
Ovarian steroidogenesisKEGGhsa04913
Ovarian steroidogenesisKEGGko04913
MicroRNAs in cancerKEGGhsa05206
MicroRNAs in cancerKEGGko05206
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Arachidonic acid metabolismREACTOMER-HSA-2142753
Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)REACTOMER-HSA-2142816
Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)REACTOMER-HSA-2142670
Biological oxidationsREACTOMER-HSA-211859
Phase 1 - Functionalization of compoundsREACTOMER-HSA-211945
Cytochrome P450 - arranged by substrate typeREACTOMER-HSA-211897
Endogenous sterolsREACTOMER-HSA-211976

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA128406956fluorouracilChemicalClinicalAnnotationassociatedPD24958282
PA443560Breast NeoplasmsDiseaseClinicalAnnotationassociatedPD24599932, 24958282
PA447216SchizophreniaDiseaseClinicalAnnotationassociatedPD
PA448404amodiaquineChemicalPathwayassociated
PA449165cyclophosphamideChemicalClinicalAnnotationassociatedPD24599932, 24958282
PA449383docetaxelChemicalPathwayassociated21151855
PA449412doxorubicinChemicalClinicalAnnotationassociatedPD
PA449476epirubicinChemicalClinicalAnnotationassociatedPD24599932, 24958282
PA450761paclitaxelChemicalClinicalAnnotation, PathwayassociatedPD21151855, 24599932
PA451257risperidoneChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
90979711997Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21.170
90979711997Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21.170
151991132004Polymorphisms associated with circulating sex hormone levels in postmenopausal women.103
117740722002Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.95
117740722002Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.95
195982352009Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.92
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
217070712011Transcriptomic and quantitative proteomic analysis of transporters and drug metabolizing enzymes in freshly isolated human brain microvessels.85
198984822009Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.84
193571542009Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females.80

Citation

Dessen P

CYP1B1 (cytochrome P450 family 1 subfamily B member 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40237/cyp1b1