Q16678 · CP1B1_HUMAN
- ProteinCytochrome P450 1B1
- GeneCYP1B1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids543 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
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).
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).
Catalytic activity
- an organic molecule + O2 + reduced [NADPH--hemoprotein reductase] = an alcohol + H+ + H2O + oxidized [NADPH--hemoprotein reductase]This reaction proceeds in the forward direction.
- 17beta-estradiol + O2 + reduced [NADPH--hemoprotein reductase] = 2-hydroxy-17beta-estradiol + H+ + H2O + oxidized [NADPH--hemoprotein reductase]This reaction proceeds in the forward direction.
- 17beta-estradiol + O2 + reduced [NADPH--hemoprotein reductase] = 4-hydroxy-17beta-estradiol + H+ + H2O + oxidized [NADPH--hemoprotein reductase]This reaction proceeds in the forward direction.
- estrone + O2 + reduced [NADPH--hemoprotein reductase] = 2-hydroxyestrone + H+ + H2O + oxidized [NADPH--hemoprotein reductase]This reaction proceeds in the forward direction.
- estrone + O2 + reduced [NADPH--hemoprotein reductase] = 4-hydroxyestrone + H+ + H2O + oxidized [NADPH--hemoprotein reductase]This reaction proceeds in the forward direction.
- O2 + reduced [NADPH--hemoprotein reductase] + testosterone = 6beta,17beta-dihydroxyandrost-4-en-3-one + H+ + H2O + oxidized [NADPH--hemoprotein reductase]This reaction proceeds in the forward direction.
- O2 + progesterone + reduced [NADPH--hemoprotein reductase] = 6beta-hydroxyprogesterone + H+ + H2O + oxidized [NADPH--hemoprotein reductase]This reaction proceeds in the forward direction.
- O2 + progesterone + reduced [NADPH--hemoprotein reductase] = 16alpha-hydroxyprogesterone + H+ + H2O + oxidized [NADPH--hemoprotein reductase]This reaction proceeds in the forward direction.
- all-trans-retinol + O2 + reduced [NADPH--hemoprotein reductase] = all-trans-retinal + H+ + 2 H2O + oxidized [NADPH--hemoprotein reductase]This reaction proceeds in the forward direction.
- all-trans-retinal + O2 + reduced [NADPH--hemoprotein reductase] = all-trans-retinoate + 2 H+ + H2O + oxidized [NADPH--hemoprotein reductase]This reaction proceeds in the forward direction.
- (5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 + reduced [NADPH--hemoprotein reductase] = (8R,9S)-epoxy-(5Z,11Z,14Z)-eicosatrienoate + H+ + H2O + oxidized [NADPH--hemoprotein reductase]This reaction proceeds in the forward direction.
- (5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 + reduced [NADPH--hemoprotein reductase] = (11R,12S)-epoxy-(5Z,8Z,14Z)-eicosatrienoate + H+ + H2O + oxidized [NADPH--hemoprotein reductase]This reaction proceeds in the forward direction.
- (5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 + reduced [NADPH--hemoprotein reductase] = (11S,12R)-epoxy-(5Z,8Z,14Z)-eicosatrienoate + H+ + H2O + oxidized [NADPH--hemoprotein reductase]This reaction proceeds in the forward direction.
- (5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 + reduced [NADPH--hemoprotein reductase] = (14R,15S)-epoxy-(5Z,8Z,11Z)-eicosatrienoate + H+ + H2O + oxidized [NADPH--hemoprotein reductase]This reaction proceeds in the forward direction.
- (5S)-hydroperoxy-(6E,8Z,11Z,14Z)-eicosatetraenoate = 5-oxo-(6E,8Z,11Z,14Z)-eicosatetraenoate + H2OThis reaction proceeds in the forward direction.
- (13S)-hydroperoxy-(9Z,11E)-octadecadienoate = 13-oxo-(9Z,11E)-octadecadienoate + H2OThis reaction proceeds in the forward direction.
- (15S)-hydroperoxy-(5Z,8Z,11Z,13E)-eicosatetraenoate = 15-oxo-(5Z,8Z,11Z,13E)-eicosatetraenoate + H2OThis reaction proceeds in the forward direction.
Cofactor
Activity regulation
Enzyme activity is increased by liposomes containing anionic phospholipids, phosphatidic acid and cardiolipin. Inhibited by naringenin with an IC50 of 5 uM (PubMed:22888116, PubMed:22935222).
Enzyme activity is increased by cytochrome b5
Enzyme activity is increased by cytochrome b5
Kinetics
KM | SUBSTRATE | pH | TEMPERATURE[C] | NOTES | EVIDENCE | |
---|---|---|---|---|---|---|
6.9 μM | 17-beta-estradiol (2-hydroxylation) | |||||
5.1 μM | 17-beta-estradiol (4-hydroxylation) | |||||
17 μM | testosterone(6-beta-hydroxylation) | |||||
25 μM | progesterone (6-beta-hydroxylation) | |||||
23 μM | progesterone (16-alpha-hydroxylation) | |||||
18.5 μM | all-trans-retinol | |||||
11 μM | all-trans retinol | |||||
8.5 μM | all-trans-retinal | |||||
29.8 μM | arachidonic acid | |||||
212.8 μM | 7,12-dimethyltetraphene |
Vmax | pH | TEMPERATURE[C] | NOTES | EVIDENCE | |
---|---|---|---|---|---|
0.42 nmol/min/nmol | for 17-beta-estradiol (2-hydroxylation) | ||||
0.91 nmol/min/nmol | for 17-beta-estradiol (4-hydroxylation) | ||||
2.2 nmol/min/nmol | for testosterone (6-beta-hydroxylation) | ||||
0.6 nmol/min/nmol | for progesterone (6-beta-hydroxylation) | ||||
2.3 nmol/min/nmol | for progesterone (16-alpha-hydroxylation) | ||||
493 pmol/min/nmol | toward all-trans retinol |
kcat is 0.15 min-1 for retinol, 0.77 min-1 for retinal, 2.86 min-1 for 7,12-dimethyltetraphene, 0.48 min-1 for arachidonic acid.
Pathway
Steroid hormone biosynthesis.
Cofactor metabolism; retinol metabolism.
Lipid metabolism; arachidonate metabolism.
Features
Showing features for site, binding site.
GO annotations
Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Chemistry
Names & Taxonomy
Protein names
- Recommended nameCytochrome P450 1B1
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ16678
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Endoplasmic reticulum membrane ; Peripheral membrane protein
Microsome membrane ; Peripheral membrane protein
Note: Located primarily in endoplasmic reticulum. Upon treatment with 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), CYP1B1 is also targeted to mitochondria.
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Anterior segment dysgenesis 6 (ASGD6)
- Note
- DescriptionA 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.
- See alsoMIM:617315
Glaucoma 3, primary congenital, A (GLC3A)
- Note
- DescriptionAn 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.
- See alsoMIM:231300
Natural variants in GLC3A
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_054227 | 28 | S>W | in GLC3A; dbSNP:rs780002791 | |
VAR_008350 | 57 | W>C | in GLC3A; juvenile onset; allele CYP1B1*11; dbSNP:rs72549387 | |
VAR_001244 | 61 | G>E | in GLC3A; allele CYP1B1*12; reduces enzymatic activity; dbSNP:rs28936700 | |
VAR_054229 | 77 | L>P | in GLC3A | |
VAR_028736 | 81 | Y>N | in GLC3A; adult-onset; hypomorphic allele; reduces the abundance of the enzyme; dbSNP:rs9282671 | |
VAR_054230 | 115 | A>P | in GLC3A; dbSNP:rs764338357 | |
VAR_054231 | 132 | M>R | in GLC3A | |
VAR_054233 | 144 | Q>P | in GLC3A | |
VAR_054234 | 144 | Q>R | in GLC3A; dbSNP:rs753847648 | |
VAR_054235 | 145 | R>W | in GLC3A | |
VAR_054238 | 192 | D>V | in GLC3A | |
VAR_054239 | 193 | P>L | in GLC3A; dbSNP:rs529769268 | |
VAR_054240 | 198 | V>I | in GLC3A; dbSNP:rs59472972 | |
VAR_054241 | 203 | N>S | in GLC3A; reduces enzymatic activity; dbSNP:rs1426636145 | |
VAR_054242 | 215 | S>I | in GLC3A; dbSNP:rs72549384 | |
VAR_054243 | 229 | E>K | in GLC3A; juvenile-onset; hypomorphic allele; reduces the abundance of the enzyme; dbSNP:rs57865060 | |
VAR_054244 | 232 | G>R | in GLC3A; adult-onset; dbSNP:rs104893628 | |
VAR_054245 | 239 | S>R | in GLC3A | |
VAR_054246 | 269-271 | missing | in GLC3A | |
VAR_054247 | 320 | V>L | in GLC3A; uncertain significance; dbSNP:rs72549382 | |
VAR_054248 | 330 | A>F | in GLC3A; uncertain significance; requires 2 nucleotide substitutions | |
VAR_054250 | 343 | missing | in GLC3A; reduces enzymatic activity and also the abundance of the enzyme | |
VAR_054251 | 345 | L>F | in GLC3A; dbSNP:rs66583685 | |
VAR_054252 | 355-358 | missing | in GLC3A | |
VAR_054253 | 364 | V>M | in GLC3A; dbSNP:rs72549379 | |
VAR_001245 | 365 | G>W | in GLC3A; allele CYP1B1*18; dbSNP:rs55771538 | |
VAR_016034 | 368 | R>H | in GLC3A and GLC1A; acts as a GLC1A disease modifier in patients also carrying Val-399 mutation in MYOC; dbSNP:rs79204362 | |
VAR_001246 | 374 | D>N | in GLC3A; dbSNP:rs104893622 | |
VAR_008352 | 387 | E>K | in GLC3A; allele CYP1B1*20; dbSNP:rs55989760 | |
VAR_054254 | 388 | A>T | in GLC3A | |
VAR_054255 | 390 | R>C | in GLC3A; dbSNP:rs148542782 | |
VAR_008353 | 390 | R>H | in GLC3A; allele CYP1B1*21; dbSNP:rs56010818 | |
VAR_054256 | 390 | R>S | in GLC3A; dbSNP:rs148542782 | |
VAR_054257 | 399 | I>S | in GLC3A; dbSNP:rs72549378 | |
VAR_054258 | 409 | V>F | in GLC3A; dbSNP:rs957253424 | |
VAR_054260 | 423 | N>Y | in GLC3A; juvenile-onset; dbSNP:rs104893629 | |
VAR_008354 | 437 | P>L | in GLC3A; allele CYP1B1*23; dbSNP:rs56175199 | |
VAR_018774 | 443 | A>G | in GLC3A; uncertain significance; allele CYP1B1*7; dbSNP:rs4986888 | |
VAR_054261 | 444 | R>Q | in GLC3A; dbSNP:rs72549376 | |
VAR_054262 | 445 | F>C | in GLC3A | |
VAR_054263 | 466 | G>D | in GLC3A; dbSNP:rs868208502 | |
VAR_001247 | 469 | R>W | in GLC3A; allele CYP1B1*25; dbSNP:rs28936701 | |
VAR_054264 | 499 | E>G | in GLC3A; dbSNP:rs72549372 | |
VAR_054265 | 515 | S>L | in GLC3A; uncertain significance | |
VAR_054267 | 523 | R>T | in GLC3A; juvenile-onset | |
VAR_054268 | 530 | D>G | in GLC3A |
Glaucoma 1, open angle, A (GLC1A)
- Note
- DescriptionA 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.
- See alsoMIM:137750
Natural variants in GLC1A
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_016034 | 368 | R>H | in GLC3A and GLC1A; acts as a GLC1A disease modifier in patients also carrying Val-399 mutation in MYOC; dbSNP:rs79204362 |
Features
Showing features for natural variant, mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_054227 | 28 | in GLC3A; dbSNP:rs780002791 | |||
Sequence: S → W | ||||||
Natural variant | VAR_011752 | 48 | in allele CYP1B1*2, allele CYP1B1*5, allele CYP1B1*6 and allele CYP1B1*7; dbSNP:rs10012 | |||
Sequence: R → G | ||||||
Natural variant | VAR_054228 | 52 | in dbSNP:rs201824781 | |||
Sequence: P → L | ||||||
Natural variant | VAR_008350 | 57 | in GLC3A; juvenile onset; allele CYP1B1*11; dbSNP:rs72549387 | |||
Sequence: W → C | ||||||
Natural variant | VAR_001244 | 61 | in GLC3A; allele CYP1B1*12; reduces enzymatic activity; dbSNP:rs28936700 | |||
Sequence: G → E | ||||||
Natural variant | VAR_028735 | 68 | in dbSNP:rs9282670 | |||
Sequence: Q → R | ||||||
Natural variant | VAR_054229 | 77 | in GLC3A | |||
Sequence: L → P | ||||||
Natural variant | VAR_028736 | 81 | in GLC3A; adult-onset; hypomorphic allele; reduces the abundance of the enzyme; dbSNP:rs9282671 | |||
Sequence: Y → N | ||||||
Natural variant | VAR_054230 | 115 | in GLC3A; dbSNP:rs764338357 | |||
Sequence: A → P | ||||||
Natural variant | VAR_011753 | 119 | in allele CYP1B1*2, allele CYP1B1*6 and allele CYP1B1*7; significantly associated with breast or lung cancer; no significant change in 17beta-estradiol 2- and 4-hydroxylation activities and 17beta-estradiol affinity; 1.5-fold reduction in testosterone affinity but nearly no change in testosterone 6beta-hydroxylation activity; 2-fold increase in progesterone 6beta- and 16alpha-hydroxylation activities and 5-fold reduction in progesterone affinity; dbSNP:rs1056827 | |||
Sequence: A → S | ||||||
Natural variant | VAR_054231 | 132 | in GLC3A | |||
Sequence: M → R | ||||||
Natural variant | VAR_054232 | 144 | ||||
Sequence: Q → H | ||||||
Natural variant | VAR_054233 | 144 | in GLC3A | |||
Sequence: Q → P | ||||||
Natural variant | VAR_054234 | 144 | in GLC3A; dbSNP:rs753847648 | |||
Sequence: Q → R | ||||||
Natural variant | VAR_054235 | 145 | in GLC3A | |||
Sequence: R → W | ||||||
Natural variant | VAR_054236 | 184 | ||||
Sequence: G → S | ||||||
Natural variant | VAR_054237 | 189 | associated with ocular hypertension susceptibility; dbSNP:rs1326854156 | |||
Sequence: A → P | ||||||
Natural variant | VAR_054238 | 192 | in GLC3A | |||
Sequence: D → V | ||||||
Natural variant | VAR_054239 | 193 | in GLC3A; dbSNP:rs529769268 | |||
Sequence: P → L | ||||||
Natural variant | VAR_054240 | 198 | in GLC3A; dbSNP:rs59472972 | |||
Sequence: V → I | ||||||
Natural variant | VAR_054241 | 203 | in GLC3A; reduces enzymatic activity; dbSNP:rs1426636145 | |||
Sequence: N → S | ||||||
Natural variant | VAR_018869 | 206 | in dbSNP:rs9341248 | |||
Sequence: S → N | ||||||
Natural variant | VAR_054242 | 215 | in GLC3A; dbSNP:rs72549384 | |||
Sequence: S → I | ||||||
Natural variant | VAR_054243 | 229 | in GLC3A; juvenile-onset; hypomorphic allele; reduces the abundance of the enzyme; dbSNP:rs57865060 | |||
Sequence: E → K | ||||||
Natural variant | VAR_054244 | 232 | in GLC3A; adult-onset; dbSNP:rs104893628 | |||
Sequence: G → R | ||||||
Natural variant | VAR_054245 | 239 | in GLC3A | |||
Sequence: S → R | ||||||
Natural variant | VAR_018870 | 266 | in dbSNP:rs9341250 | |||
Sequence: R → L | ||||||
Natural variant | VAR_054246 | 269-271 | in GLC3A | |||
Sequence: Missing | ||||||
Natural variant | VAR_054247 | 320 | in GLC3A; uncertain significance; dbSNP:rs72549382 | |||
Sequence: V → L | ||||||
Natural variant | VAR_054248 | 330 | in GLC3A; uncertain significance; requires 2 nucleotide substitutions | |||
Sequence: A → F | ||||||
Natural variant | VAR_054249 | 330 | associated with ocular hypertension susceptibility; dbSNP:rs752456881 | |||
Sequence: A → S | ||||||
Natural variant | VAR_054250 | 343 | in GLC3A; reduces enzymatic activity and also the abundance of the enzyme | |||
Sequence: Missing | ||||||
Natural variant | VAR_054251 | 345 | in GLC3A; dbSNP:rs66583685 | |||
Sequence: L → F | ||||||
Natural variant | VAR_054252 | 355-358 | in GLC3A | |||
Sequence: Missing | ||||||
Natural variant | VAR_054253 | 364 | in GLC3A; dbSNP:rs72549379 | |||
Sequence: V → M | ||||||
Natural variant | VAR_001245 | 365 | in GLC3A; allele CYP1B1*18; dbSNP:rs55771538 | |||
Sequence: G → W | ||||||
Natural variant | VAR_016034 | 368 | in GLC3A and GLC1A; acts as a GLC1A disease modifier in patients also carrying Val-399 mutation in MYOC; dbSNP:rs79204362 | |||
Sequence: R → H | ||||||
Natural variant | VAR_001246 | 374 | in GLC3A; dbSNP:rs104893622 | |||
Sequence: D → N | ||||||
Natural variant | VAR_008351 | 379 | in allele CYP1B1*19; dbSNP:rs56305281 | |||
Sequence: P → L | ||||||
Natural variant | VAR_008352 | 387 | in GLC3A; allele CYP1B1*20; dbSNP:rs55989760 | |||
Sequence: E → K | ||||||
Natural variant | VAR_054254 | 388 | in GLC3A | |||
Sequence: A → T | ||||||
Natural variant | VAR_054255 | 390 | in GLC3A; dbSNP:rs148542782 | |||
Sequence: R → C | ||||||
Natural variant | VAR_008353 | 390 | in GLC3A; allele CYP1B1*21; dbSNP:rs56010818 | |||
Sequence: R → H | ||||||
Natural variant | VAR_054256 | 390 | in GLC3A; dbSNP:rs148542782 | |||
Sequence: R → S | ||||||
Mutagenesis | 395 | Invertes the 4OHE2:2OHE2 hydroxylation preference from 5.1 to 0.45. | ||||
Sequence: V → L | ||||||
Natural variant | VAR_054257 | 399 | in GLC3A; dbSNP:rs72549378 | |||
Sequence: I → S | ||||||
Natural variant | VAR_054258 | 409 | in GLC3A; dbSNP:rs957253424 | |||
Sequence: V → F | ||||||
Natural variant | VAR_054259 | 422 | ||||
Sequence: V → G | ||||||
Natural variant | VAR_054260 | 423 | in GLC3A; juvenile-onset; dbSNP:rs104893629 | |||
Sequence: N → Y | ||||||
Natural variant | VAR_001248 | 432 | in allele CYP1B1*3, allele CYP1B1*5, allele CYP1B1*6 and allele CYP1B1*7; 1.6-fold increase in 17beta-estradiol 4-hydroxylation activity but no change in 17beta-estradiol 2-hydroxylation activity; 2-fold reduction in testosterone 6beta-hydroxylation activity and 3-fold reduction in testosterone affinity; 6-fold and 4-fold increase in progesterone 6beta- and 16alpha-hydroxylation activity, respectively and 7-fold reduction in progesterone affinity; dbSNP:rs1056836 | |||
Sequence: L → V | ||||||
Natural variant | VAR_008354 | 437 | in GLC3A; allele CYP1B1*23; dbSNP:rs56175199 | |||
Sequence: P → L | ||||||
Natural variant | VAR_028737 | 441 | in dbSNP:rs4986887 | |||
Sequence: D → H | ||||||
Natural variant | VAR_018774 | 443 | in GLC3A; uncertain significance; allele CYP1B1*7; dbSNP:rs4986888 | |||
Sequence: A → G | ||||||
Natural variant | VAR_054261 | 444 | in GLC3A; dbSNP:rs72549376 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_054262 | 445 | in GLC3A | |||
Sequence: F → C | ||||||
Natural variant | VAR_028738 | 449 | in dbSNP:rs1056837 | |||
Sequence: D → E | ||||||
Natural variant | VAR_008355 | 453 | in allele CYP1B1*4; dbSNP:rs1800440 | |||
Sequence: N → S | ||||||
Natural variant | VAR_054263 | 466 | in GLC3A; dbSNP:rs868208502 | |||
Sequence: G → D | ||||||
Natural variant | VAR_001247 | 469 | in GLC3A; allele CYP1B1*25; dbSNP:rs28936701 | |||
Sequence: R → W | ||||||
Natural variant | VAR_054264 | 499 | in GLC3A; dbSNP:rs72549372 | |||
Sequence: E → G | ||||||
Natural variant | VAR_054265 | 515 | in GLC3A; uncertain significance | |||
Sequence: S → L | ||||||
Natural variant | VAR_054266 | 518 | ||||
Sequence: V → A | ||||||
Natural variant | VAR_054267 | 523 | in GLC3A; juvenile-onset | |||
Sequence: R → T | ||||||
Natural variant | VAR_054268 | 530 | in GLC3A | |||
Sequence: D → G |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 962 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000051660 | 1-543 | UniProt | Cytochrome P450 1B1 | |||
Sequence: MGTSLSPNDPWPLNPLSIQQTTLLLLLSVLATVHVGQRLLRQRRRQLRSAPPGPFAWPLIGNAAAVGQAAHLSFARLARRYGDVFQIRLGSCPIVVLNGERAIHQALVQQGSAFADRPAFASFRVVSGGRSMAFGHYSEHWKVQRRAAHSMMRNFFTRQPRSRQVLEGHVLSEARELVALLVRGSADGAFLDPRPLTVVAVANVMSAVCFGCRYSHDDPEFRELLSHNEEFGRTVGAGSLVDVMPWLQYFPNPVRTVFREFEQLNRNFSNFILDKFLRHCESLRPGAAPRDMMDAFILSAEKKAAGDSHGGGARLDLENVPATITDIFGASQDTLSTALQWLLLLFTRYPDVQTRVQAELDQVVGRDRLPCMGDQPNLPYVLAFLYEAMRFSSFVPVTIPHATTANTSVLGYHIPKDTVVFVNQWSVNHDPLKWPNPENFDPARFLDKDGLINKDLTSRVMIFSVGKRRCIGEELSKMQLFLFISILAHQCDFRANPNEPAKMNFSYGLTIKPKSFKVNVTLRESMELLDSAVQNLQAKETCQ | |||||||
Modified residue (large scale data) | 112 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 269 | PRIDE | Phosphoserine | ||||
Sequence: S |
Proteomic databases
PTM databases
Expression
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 endothelial cells (at protein level) (PubMed:19005183).
Expressed in retinal endothelial cells and umbilical vein endothelial cells (at protein level) (PubMed:19005183).
Induction
By polycyclic aromatic hydrocarbons (PAH) and 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD).
Gene expression databases
Organism-specific databases
Interaction
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q16678 | TEK Q02763 | 6 | EBI-1055133, EBI-2257090 |
Protein-protein interaction databases
Chemistry
Miscellaneous
Structure
Sequence
- Sequence statusComplete
- Length543
- Mass (Da)60,846
- Last updated2004-06-07 v2
- Checksum46B6DA7368F63EA2
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A087WUQ7 | A0A087WUQ7_HUMAN | CYP1B1 | 143 | ||
A0A087WW26 | A0A087WW26_HUMAN | CYP1B1 | 172 |
Polymorphism
Various CYP1B1 alleles are known. The sequence shown is that of allele CYP1B1*1.
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
U03688 EMBL· GenBank· DDBJ | AAA19567.1 EMBL· GenBank· DDBJ | mRNA | ||
U56438 EMBL· GenBank· DDBJ | AAC50809.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF450132 EMBL· GenBank· DDBJ | AAM50512.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF450131 EMBL· GenBank· DDBJ | AAM50512.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BT019979 EMBL· GenBank· DDBJ | AAV38782.1 EMBL· GenBank· DDBJ | mRNA | ||
AY393998 EMBL· GenBank· DDBJ | AAQ87875.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC012049 EMBL· GenBank· DDBJ | AAH12049.1 EMBL· GenBank· DDBJ | mRNA | ||
AF171066 EMBL· GenBank· DDBJ | AAG43404.1 EMBL· GenBank· DDBJ | Genomic DNA |