• Gene id: 1545

Gene Summary

• Gene Symbol: CYP1B1   Gene   UCSC   Ensembl
• Aliases: ASGD6, CP1B, CYPIB1, GLC3A, P4501B1
• Gene name: cytochrome P450 family 1 subfamily B member 1
• Alternate names: cytochrome P450 1B1, aryl hydrocarbon hydroxylase, cytochrome P450, family 1, subfamily B, polypeptide 1, cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile), flavoprotein-linked monooxygenase, microsomal monooxy,
• Gene location: 2p22.2 (38076180: 38067602)     Exons: 3     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 601771

SNPs

rs1056836

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.38071060G>C
NC_000002.11   g.38298203C>G
NG_008386.2   g.10042C>G
NM_000104.3   c.1294C>G
NP_000095.2   p.Leu432Val|SEQ=[G/C]|GENE=CYP1B1

rs2855658

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.38069747T>C
NC_000002.11   g.38296890T>C
NG_008386.2   g.11355A>G
NM_000104.3   c.*975A>G|SEQ=[T/C]|GENE=CYP1B1
RMDN2   151393

Protein Summary

• Protein general information: Q16678  
  • Name: Cytochrome P450 1B1 (EC 1.14.14.1) (CYPIB1)
  • Length: 543  
  • Mass: 60,846
• Sequence:

  MGTSLSPNDPWPLNPLSIQQTTLLLLLSVLATVHVGQRLLRQRRRQLRSAPPGPFAWPLIGNAAAVGQAAHLSFA
  RLARRYGDVFQIRLGSCPIVVLNGERAIHQALVQQGSAFADRPAFASFRVVSGGRSMAFGHYSEHWKVQRRAAHS
  MMRNFFTRQPRSRQVLEGHVLSEARELVALLVRGSADGAFLDPRPLTVVAVANVMSAVCFGCRYSHDDPEFRELL
  SHNEEFGRTVGAGSLVDVMPWLQYFPNPVRTVFREFEQLNRNFSNFILDKFLRHCESLRPGAAPRDMMDAFILSA
  EKKAAGDSHGGGARLDLENVPATITDIFGASQDTLSTALQWLLLLFTRYPDVQTRVQAELDQVVGRDRLPCMGDQ
  PNLPYVLAFLYEAMRFSSFVPVTIPHATTANTSVLGYHIPKDTVVFVNQWSVNHDPLKWPNPENFDPARFLDKDG
  LINKDLTSRVMIFSVGKRRCIGEELSKMQLFLFISILAHQCDFRANPNEPAKMNFSYGLTIKPKSFKVNVTLRES
  MELLDSAVQNLQAKETCQ

• Structural information:
  • Interpro: IPR032971  IPR001128  IPR017972  IPR002401  IPR036396  
  • Prosite: PS00086
  • PDB: 3PM0
  • PDBsum: 3PM0
  • STRING: ENSP00000260630
• Other Databases: GeneCards:  CYP1B1  Malacards:  CYP1B1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001525	angiogenesis	IEA	biological process
GO:0002930	trabecular meshwork development	ISS	biological process
GO:0004497	monooxygenase activity	IDA	molecular function
GO:0004497	monooxygenase activity	IDA	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0005739	mitochondrion	ISS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006725	cellular aromatic compound metabolic process	IEA	biological process
GO:0006805	xenobiotic metabolic process	IDA	biological process
GO:0006809	nitric oxide biosynthetic process	ISS	biological process
GO:0007155	cell adhesion	ISS	biological process
GO:0007601	visual perception	TAS	biological process
GO:0008202	steroid metabolic process	IDA	biological process
GO:0008210	estrogen metabolic process	IDA	biological process
GO:0008285	negative regulation of cell proliferation	ISS	biological process
GO:0008631	intrinsic apoptotic signaling pathway in response to oxidative stress	ISS	biological process
GO:0009404	toxin metabolic process	IEA	biological process
GO:0009636	response to toxic substance	IEA	biological process
GO:0010575	positive regulation of vascular endothelial growth factor production	ISS	biological process
GO:0016125	sterol metabolic process	TAS	biological process
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	molecular function
GO:0019369	arachidonic acid metabolic process	IDA	biological process
GO:0019373	epoxygenase P450 pathway	TAS	biological process
GO:0019825	oxygen binding	TAS	molecular function
GO:0019825	oxygen binding	TAS	molecular function
GO:0020037	heme binding	IDA	molecular function
GO:0020037	heme binding	TAS	molecular function
GO:0030199	collagen fibril organization	ISS	biological process
GO:0030336	negative regulation of cell migration	ISS	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	ISS	biological process
GO:0033629	negative regulation of cell adhesion mediated by integrin	ISS	biological process
GO:0042572	retinol metabolic process	IDA	biological process
GO:0042574	retinal metabolic process	IDA	biological process
GO:0043065	positive regulation of apoptotic process	ISS	biological process
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0043542	endothelial cell migration	ISS	biological process
GO:0045766	positive regulation of angiogenesis	ISS	biological process
GO:0046427	positive regulation of JAK-STAT cascade	ISS	biological process
GO:0046466	membrane lipid catabolic process	ISS	biological process
GO:0048514	blood vessel morphogenesis	ISS	biological process
GO:0055114	oxidation-reduction process	TAS	biological process
GO:0061304	retinal blood vessel morphogenesis	ISS	biological process
GO:0070301	cellular response to hydrogen peroxide	ISS	biological process
GO:0070330	aromatase activity	IEA	molecular function
GO:0071407	cellular response to organic cyclic compound	IDA	biological process
GO:0071603	endothelial cell-cell adhesion	IEA	biological process
GO:0097267	omega-hydroxylase P450 pathway	TAS	biological process
GO:2000377	regulation of reactive oxygen species metabolic process	ISS	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0002930	trabecular meshwork development	IEA	biological process
GO:0002930	trabecular meshwork development	ISS	biological process
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0004497	monooxygenase activity	IDA	molecular function
GO:0004497	monooxygenase activity	IDA	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	ISS	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006725	cellular aromatic compound metabolic process	IEA	biological process
GO:0006805	xenobiotic metabolic process	IEA	biological process
GO:0006805	xenobiotic metabolic process	IDA	biological process
GO:0006809	nitric oxide biosynthetic process	IEA	biological process
GO:0006809	nitric oxide biosynthetic process	ISS	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0007155	cell adhesion	ISS	biological process
GO:0007601	visual perception	TAS	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0008202	steroid metabolic process	IDA	biological process
GO:0008210	estrogen metabolic process	IEA	biological process
GO:0008210	estrogen metabolic process	IDA	biological process
GO:0008285	negative regulation of cell proliferation	IEA	biological process
GO:0008285	negative regulation of cell proliferation	ISS	biological process
GO:0008631	intrinsic apoptotic signaling pathway in response to oxidative stress	IEA	biological process
GO:0008631	intrinsic apoptotic signaling pathway in response to oxidative stress	ISS	biological process
GO:0009404	toxin metabolic process	IEA	biological process
GO:0009636	response to toxic substance	IEA	biological process
GO:0010575	positive regulation of vascular endothelial growth factor production	IEA	biological process
GO:0010575	positive regulation of vascular endothelial growth factor production	ISS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016125	sterol metabolic process	TAS	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
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	IEA	molecular function
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	molecular function
GO:0019369	arachidonic acid metabolic process	IEA	biological process
GO:0019369	arachidonic acid metabolic process	IDA	biological process
GO:0019373	epoxygenase P450 pathway	TAS	biological process
GO:0019825	oxygen binding	TAS	molecular function
GO:0019825	oxygen binding	TAS	molecular function
GO:0020037	heme binding	IEA	molecular function
GO:0020037	heme binding	IDA	molecular function
GO:0020037	heme binding	TAS	molecular function
GO:0030199	collagen fibril organization	IEA	biological process
GO:0030199	collagen fibril organization	ISS	biological process
GO:0030336	negative regulation of cell migration	IEA	biological process
GO:0030336	negative regulation of cell migration	ISS	biological process
GO:0031090	organelle membrane	IEA	cellular component
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IEA	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	ISS	biological process
GO:0033629	negative regulation of cell adhesion mediated by integrin	IEA	biological process
GO:0033629	negative regulation of cell adhesion mediated by integrin	ISS	biological process
GO:0042572	retinol metabolic process	IEA	biological process
GO:0042572	retinol metabolic process	IEA	biological process
GO:0042572	retinol metabolic process	IDA	biological process
GO:0042574	retinal metabolic process	IEA	biological process
GO:0042574	retinal metabolic process	IDA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0043065	positive regulation of apoptotic process	ISS	biological process
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0043542	endothelial cell migration	IEA	biological process
GO:0043542	endothelial cell migration	ISS	biological process
GO:0045766	positive regulation of angiogenesis	IEA	biological process
GO:0045766	positive regulation of angiogenesis	ISS	biological process
GO:0046427	positive regulation of JAK-STAT cascade	IEA	biological process
GO:0046427	positive regulation of JAK-STAT cascade	ISS	biological process
GO:0046466	membrane lipid catabolic process	IEA	biological process
GO:0046466	membrane lipid catabolic process	ISS	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048514	blood vessel morphogenesis	IEA	biological process
GO:0048514	blood vessel morphogenesis	ISS	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	TAS	biological process
GO:0061298	retina vasculature development in camera-type eye	IEA	biological process
GO:0061304	retinal blood vessel morphogenesis	IEA	biological process
GO:0061304	retinal blood vessel morphogenesis	ISS	biological process
GO:0070301	cellular response to hydrogen peroxide	IEA	biological process
GO:0070301	cellular response to hydrogen peroxide	ISS	biological process
GO:0070330	aromatase activity	IEA	molecular function
GO:0071407	cellular response to organic cyclic compound	IDA	biological process
GO:0071603	endothelial cell-cell adhesion	IEA	biological process
GO:0097267	omega-hydroxylase P450 pathway	TAS	biological process
GO:2000377	regulation of reactive oxygen species metabolic process	IEA	biological process
GO:2000377	regulation of reactive oxygen species metabolic process	ISS	biological process
GO:0002930	trabecular meshwork development	ISS	biological process
GO:0004497	monooxygenase activity	IDA	molecular function
GO:0004497	monooxygenase activity	IDA	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0005739	mitochondrion	ISS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006805	xenobiotic metabolic process	IDA	biological process
GO:0006809	nitric oxide biosynthetic process	ISS	biological process
GO:0007155	cell adhesion	ISS	biological process
GO:0007601	visual perception	TAS	biological process
GO:0008202	steroid metabolic process	IDA	biological process
GO:0008210	estrogen metabolic process	IDA	biological process
GO:0008285	negative regulation of cell proliferation	ISS	biological process
GO:0008631	intrinsic apoptotic signaling pathway in response to oxidative stress	ISS	biological process
GO:0010575	positive regulation of vascular endothelial growth factor production	ISS	biological process
GO:0016125	sterol metabolic process	TAS	biological process
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	molecular function
GO:0019369	arachidonic acid metabolic process	IDA	biological process
GO:0019373	epoxygenase P450 pathway	TAS	biological process
GO:0019825	oxygen binding	TAS	molecular function
GO:0019825	oxygen binding	TAS	molecular function
GO:0020037	heme binding	IDA	molecular function
GO:0020037	heme binding	TAS	molecular function
GO:0030199	collagen fibril organization	ISS	biological process
GO:0030336	negative regulation of cell migration	ISS	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	ISS	biological process
GO:0033629	negative regulation of cell adhesion mediated by integrin	ISS	biological process
GO:0042572	retinol metabolic process	IDA	biological process
GO:0042574	retinal metabolic process	IDA	biological process
GO:0043065	positive regulation of apoptotic process	ISS	biological process
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0043542	endothelial cell migration	ISS	biological process
GO:0045766	positive regulation of angiogenesis	ISS	biological process
GO:0046427	positive regulation of JAK-STAT cascade	ISS	biological process
GO:0046466	membrane lipid catabolic process	ISS	biological process
GO:0048514	blood vessel morphogenesis	ISS	biological process
GO:0055114	oxidation-reduction process	TAS	biological process
GO:0061304	retinal blood vessel morphogenesis	ISS	biological process
GO:0070301	cellular response to hydrogen peroxide	ISS	biological process
GO:0071407	cellular response to organic cyclic compound	IDA	biological process
GO:0097267	omega-hydroxylase P450 pathway	TAS	biological process
GO:2000377	regulation of reactive oxygen species metabolic process	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04913	Ovarian steroidogenesis
hsa05206	MicroRNAs in cancer
hsa05204	Chemical carcinogenesis

Diseases

Associated diseases	References
Brill-Symmers disease	GAD: 20029944
Cancer	GAD: 20027111
Cancer (Adenocarcinoma)	GAD: 18347981
Cancer (Adenoma)	GAD: 20375710
Cancer (bladder)	GAD: 15122594
Cancer (brain)	GAD: 16598069
Cancer (breast)	GAD: 16103451
Cancer (colorectal)	GAD: 16202920
Cancer (endometrial)	GAD: 15734958
Cancer (esophageal)	GAD: 20453000
Cancer (glaucoma)	GAD: 11774072
Cancer (Hepatocellular)	GAD: 19064581
Cancer (kidney)	GAD: 15041720
Cancer (leiomyoma)	GAD: 18763031
Cancer (leukemia)	GAD: 19074885
Cancer (liver)	GAD: 17363580
Cancer (lung)	GAD: 16051642
Cancer (lymphoma)	GAD: 19338043
Cancer (myeloma)	GAD: 19736056
Cancer (ovarian)	GAD: 16284375
Cancer (pancreatic)	GAD: 19895167
Cancer (prostate)	GAD: 16172228
Cancer (Squamous cell)	GAD: 18569591
Cancer (stomach)	GAD: 19015200
Cancer (testicular)	GAD: 16172230
Cardiovascular disease	GAD: 19730035
Hypertension	GAD: 19357154
Cleft defects	GAD: 20634891
Glaucoma	GAD: 11774072
Asthma	GAD: 19575027
Obesity	GAD: 20734064
Cholelithiasis	GAD: 18575334
Bone diseases	GAD: 19453261
Osteoporosis	GAD: 18779756
Parkinson disease	GAD: 17449559
Autism	GAD: 19598235
Mental disorder	GAD: 19860743
Pregnancy loss	GAD: 16978616
Recurrent pregnancy loss (RPL)	GAD: 15299091
Spermatogenesis defects	GAD: 18980759
Endometriosis	INFBASE: 17562158
Ovarian endometriosis	INFBASE: 18849443
Polycystic ovary syndrome (PCOS)	INFBASE: 22951915
Male factor infertility	MIK: 21683070
Azoospermia	MIK: 18980759
Spermatogenesis defects	MIK: 18980759
Oligozoospermia	MIK: 18980759
Endometriosis	GAD: 16260521
Chronic obstructive pulmonary disease (COPD)	GAD: 20198857
Primary congenital glaucoma	GAD: 14507861
Anterior segment dysgenesis	KEGG: H01159
Peters anomaly	KEGG: H01075
Male infertility	MIK: 21683070
Oligozoospermia	MIK: 18980759
Azoospermia	MIK: 18980759
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21683070	Male infertility	rs1056836	Han-Chi nese	1010 (591 idiopathic infertile men, 419 fertile controls)	Male infertiltiy
18980759	Oligozoospermia, azoospermia, impaired spermatogenesis	(rs180113 of ER-alpha gene, rs1256049 of ER-beta gene, rs1048943 of CYP1A1 gene, rs8191246 of HSD17B2 gene, and rs1799941 along with rs6259 of SHBG gene	Taiwane se Han	303 (183 oligozoospermatic (sperm count <20 x 10(6)/mL) or azoospermatic males, 120 fertile control males)	Male infertility	ER-alpha ER-beta CYP17 CYP19A1 HSD17B2 CYP1A1 CYP1B1 COMT SHBG
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R