CYP1B1
entrez
1545
canonical
uniprot
Q16678
canonical
ensembl
ENSG00000138061
resolver
ensp
ENSP00000478561
resolver
ensp
ENSP00000478839
resolver
ensp
ENSP00000483678
resolver
ensp
ENSP00000519767
resolver
ensp
ENSP00000530062
resolver
ensp
ENSP00000619010
resolver
ensp
ENSP00000619011
resolver
ensp
ENSP00000619012
resolver
ensp
ENSP00000619013
resolver
enst
ENST00000490576
resolver
enst
ENST00000610745
resolver
enst
ENST00000614273
resolver
enst
ENST00000714520
resolver
enst
ENST00000860003
resolver
enst
ENST00000948951
resolver
enst
ENST00000948952
resolver
enst
ENST00000948953
resolver
enst
ENST00000948954
resolver
genesymbol
CYP1B1
resolver
hgnc
HGNC:2597
resolver
uniprot
Q53TK1
resolver
uniprot
Q5TZW8
resolver
uniprot
Q93089
resolver
uniprot
Q9H316
resolver
uniprot_entry
CP1B1_HUMAN
resolver
uniprot_entry
Q53TK1_HUMAN
resolver
uniprot_sec
Q5TZW8
resolver
uniprot_sec
Q93089
resolver
uniprot_sec
Q9H316
resolver
activity_regulation
ACTIVITY REGULATION: Enzyme activity is increased by liposomes containing anionic phospholipids, phosphatidic acid and cardiolipin. Inhibited by naringenin with an IC(50) of 5 uM (PubMed:22888116, PubMed:22935222). Enzyme activity is increased by cytochrome b5. {ECO:0000269|PubMed:22888116, ECO:0000269|PubMed:22935222}.
uniprot
proteins
amino_acid_sequence
MGTSLSPNDPWPLNPLSIQQTTLLLLLSVLATVHVGQRLLRQRRRQLRSAPPGPFAWPLIGNAAAVGQAAHLSFARLARRYGDVFQIRLGSCPIVVLNGERAIHQALVQQGSAFADRPAFASFRVVSGGRSMAFGHYSEHWKVQRRAAHSMMRNFFTRQPRSRQVLEGHVLSEARELVALLVRGSADGAFLDPRPLTVVAVANVMSAVCFGCRYSHDDPEFRELLSHNEEFGRTVGAGSLVDVMPWLQYFPNPVRTVFREFEQLNRNFSNFILDKFLRHCESLRPGAAPRDMMDAFILSAEKKAAGDSHGGGARLDLENVPATITDIFGASQDTLSTALQWLLLLFTRYPDVQTRVQAELDQVVGRDRLPCMGDQPNLPYVLAFLYEAMRFSSFVPVTIPHATTANTSVLGYHIPKDTVVFVNQWSVNHDPLKWPNPENFDPARFLDKDGLINKDLTSRVMIFSVGKRRCIGEELSKMQLFLFISILAHQCDFRANPNEPAKMNFSYGLTIKPKSFKVNVTLRESMELLDSAVQNLQAKETCQ
uniprot
proteins
disease_involvement
DISEASE: Anterior segment dysgenesis 6 (ASGD6) [MIM:617315]: A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD6 patients predominantly manifest Peters anomaly. Peters anomaly consists of corneal leukoma, defects in the posterior structures of the cornea such as absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iridocorneal and/or keratolenticular adhesions. Over 50% of patients develop glaucoma in childhood. {ECO:0000269|PubMed:11403040}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]: An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. {ECO:0000269|PubMed:10227395, ECO:0000269|PubMed:10655546, ECO:0000269|PubMed:11184479, ECO:0000269|PubMed:11527932, ECO:0000269|PubMed:11774072, ECO:0000269|PubMed:11980847, ECO:0000269|PubMed:12036985, ECO:0000269|PubMed:12525557, ECO:0000269|PubMed:14635112, ECO:0000269|PubMed:14640114, ECO:0000269|PubMed:15255109, ECO:0000269|PubMed:15342693, ECO:0000269|PubMed:15475877, ECO:0000269|PubMed:16490498, ECO:0000269|PubMed:16688110, ECO:0000269|PubMed:16735994, ECO:0000269|PubMed:16862072, ECO:0000269|PubMed:18470941, ECO:0000269|PubMed:9463332, ECO:0000269|PubMed:9497261}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry.; DISEASE: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]: A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. {ECO:0000269|PubMed:11774072}. Note=The gene represented in this entry acts as a disease modifier. Digenic mutations in CYP1B1 and MYOC have been found in a family segregating both primary adult-onset and juvenile forms of open angle glaucoma (PubMed:11774072). All affected family members with mutations in both MYOC and CYP1B1 had juvenile glaucoma, whereas those with only the MYOC mutation had the adult-onset form (PubMed:11774072). {ECO:0000269|PubMed:11774072}.
uniprot
proteins
ec_number
1.14.14.1
uniprot
proteins
ec_number
4.2.1.152
uniprot
proteins
function
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). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:10681376, PubMed:11555828, PubMed:12865317, PubMed:15258110, PubMed:20972997). Exhibits catalytic activity for the formation of hydroxyestrogens from estrone (E1) and 17beta-estradiol (E2), namely 2- and 4-hydroxy E1 and E2. Displays a predominant hydroxylase activity toward E2 at the C-4 position (PubMed:11555828, PubMed:12865317). Metabolizes testosterone and progesterone to B or D ring hydroxylated metabolites (PubMed:10426814). May act as a major enzyme for all-trans retinoic acid biosynthesis in extrahepatic tissues. Catalyzes two successive oxidative transformation of all-trans retinol to all-trans retinal and then to the active form all-trans retinoic acid (PubMed:10681376, PubMed:15258110). Catalyzes the epoxidation of double bonds of certain PUFA. Converts arachidonic acid toward epoxyeicosatrienoic acid (EpETrE) regioisomers, 8,9-, 11,12-, and 14,15- EpETrE, that function as lipid mediators in the vascular system (PubMed:20972997). Additionally, displays dehydratase activity toward oxygenated eicosanoids hydroperoxyeicosatetraenoates (HpETEs). This activity is independent of cytochrome P450 reductase, NADPH, and O2 (PubMed:21068195). Also involved in the oxidative metabolism of xenobiotics, particularly converting polycyclic aromatic hydrocarbons and heterocyclic aryl amines procarcinogens to DNA-damaging products (PubMed:10426814). Plays an important role in retinal vascular development. Under hyperoxic O2 conditions, promotes retinal angiogenesis and capillary morphogenesis, likely by metabolizing the oxygenated products generated during the oxidative stress. Also, contributes to oxidative homeostasis and ultrastructural organization and function of trabecular meshwork tissue through modulation of POSTN expression (By similarity). {ECO:0000250|UniProtKB:Q64429, ECO:0000269|PubMed:10426814, ECO:0000269|PubMed:10681376, ECO:0000269|PubMed:11555828, ECO:0000269|PubMed:12865317, ECO:0000269|PubMed:15258110, ECO:0000269|PubMed:20972997, ECO:0000269|PubMed:21068195}.
uniprot
proteins
mass_dalton
60846
uniprot
proteins
mutagenesis
MUTAGEN 395; /note="V->L: Invertes the 4OHE2:2OHE2 hydroxylation preference from 5.1 to 0.45."; /evidence="ECO:0000269|PubMed:23821647
uniprot
proteins
pathway_participation
PATHWAY: Steroid hormone biosynthesis. {ECO:0000269|PubMed:11555828, ECO:0000269|PubMed:12865317}.; PATHWAY: Cofactor metabolism; retinol metabolism. {ECO:0000269|PubMed:10681376, ECO:0000269|PubMed:15258110}.; PATHWAY: Lipid metabolism; arachidonate metabolism. {ECO:0000269|PubMed:20972997}.
uniprot
proteins
protein_family
Cytochrome P450 family
uniprot
proteins
pubmed
10227395
uniprot
proteins
pubmed
10426814
uniprot
proteins
pubmed
10655546
uniprot
proteins
pubmed
10681376
uniprot
proteins
pubmed
10739169
uniprot
proteins
pubmed
11184479
uniprot
proteins
pubmed
11403040
uniprot
proteins
pubmed
11527932
uniprot
proteins
pubmed
11555828
uniprot
proteins
pubmed
11774072
uniprot
proteins
pubmed
11854439
uniprot
proteins
pubmed
11980847
uniprot
proteins
pubmed
12036985
uniprot
proteins
pubmed
12525557
uniprot
proteins
pubmed
12865317
uniprot
proteins
pubmed
14635112
uniprot
proteins
pubmed
14640114
uniprot
proteins
pubmed
15255109
uniprot
proteins
pubmed
15258110
uniprot
proteins
pubmed
15342693
uniprot
proteins
pubmed
15475877
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16490498
uniprot
proteins
pubmed
16688110
uniprot
proteins
pubmed
16735994
uniprot
proteins
pubmed
16862072
uniprot
proteins
pubmed
18470941
uniprot
proteins
pubmed
19005183
uniprot
proteins
pubmed
20972997
uniprot
proteins
pubmed
21068195
uniprot
proteins
pubmed
21147782
uniprot
proteins
pubmed
22888116
uniprot
proteins
pubmed
22935222
uniprot
proteins
pubmed
23821647
uniprot
proteins
pubmed
8175734
uniprot
proteins
pubmed
8910454
uniprot
proteins
pubmed
9463332
uniprot
proteins
pubmed
9497261
uniprot
proteins
pubmed
9823305
uniprot
proteins
sequence_length
543
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q64429}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q64429}. Microsome membrane {ECO:0000250|UniProtKB:Q64429}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q64429}. Mitochondrion {ECO:0000250|UniProtKB:Q64429}. Note=Located primarily in endoplasmic reticulum. Upon treatment with 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), CYP1B1 is also targeted to mitochondria. {ECO:0000250|UniProtKB:Q64429}.
uniprot
proteins