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Protein

Cytochrome P450 1B1

Gene

CYP1B1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, retinoid and xenobiotics. Preferentially oxidizes 17beta-estradiol to the carcinogenic 4-hydroxy derivative, and a variety of procarcinogenic compounds to their activated forms, including polycyclic aromatic hydrocarbons. Promotes angiogenesis by removing cellular oxygenation products, thereby decreasing oxidative stress, release of antiangiogenic factor THBS2, then allowing endothelial cells migration, cell adhesion and capillary morphogenesis. These changes are concommitant with the endothelial nitric oxide synthase activity and nitric oxide synthesis. Plays an important role in the regulation of perivascular cell proliferation, migration, and survival through modulation of the intracellular oxidative state and NF-kappa-B expression and/or activity, during angiogenesis. Contributes to oxidative homeostasis and ultrastructural organization and function of trabecular meshwork tissue through modulation of POSTN expression.4 Publications

Catalytic activityi

RH + [reduced NADPH--hemoprotein reductase] + O2 = ROH + [oxidized NADPH--hemoprotein reductase] + H2O.2 Publications

Cofactori

heme1 Publication

Enzyme regulationi

Enzyme activity is increased by liposomes containing anionic phospholipids, phosphatidic acid and cardiolipin. Inhibited by naringenin with an IC50 of 5 µM.2 Publications

Kineticsi

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.
  1. KM=6.0 µM for 17-beta-estradiol2 Publications
  2. KM=17.0 µM for testosterone2 Publications
  3. KM=24.0 µM for progesterone2 Publications
  4. KM=18.5 µM for retinol2 Publications
  5. KM=8.5 µM for retinal2 Publications
  6. KM=29.8 µM for arachidonic acid2 Publications
  7. KM=212.8 µM for 7,12-dimethyltetraphene2 Publications
  1. Vmax=14.95 nmol/min/mg enzyme for 17-beta-estradiol 4-hydroxylation2 Publications
  2. Vmax=6.9 nmol/min/mg enzyme for 17-beta-estradiol 2-hydroxylation2 Publications
  3. Vmax=36.16 nmol/min/mg enzyme for testosterone 6-beta-hydroxylation2 Publications
  4. Vmax=9.86 nmol/min/mg enzyme for progesterone 6-beta-hydroxylation2 Publications
  5. Vmax=37.80 nmol/min/mg enzyme for progesterone 16-alpha-hydroxylation2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei395Major determinant of CYP1B1 17beta-estradiol hydroxylation regiospecificity1
Metal bindingi470Iron (heme axial ligand)Combined sources1 Publication1

GO - Molecular functioni

  • aromatase activity Source: UniProtKB-EC
  • heme binding Source: UniProtKB
  • iron ion binding Source: InterPro
  • monooxygenase activity Source: UniProtKB
  • 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 Source: MGI
  • oxygen binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionMonooxygenase, Oxidoreductase
LigandHeme, Iron, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS06443-MONOMER
ReactomeiR-HSA-211976 Endogenous sterols
R-HSA-2142670 Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)
R-HSA-2142816 Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)
R-HSA-5579000 Defective CYP1B1 causes Glaucoma
SABIO-RKiQ16678
SIGNORiQ16678

Chemistry databases

SwissLipidsiSLP:000001331

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome P450 1B1 (EC:1.14.14.12 Publications)
Alternative name(s):
CYPIB1
Gene namesi
Name:CYP1B1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000138061.11
HGNCiHGNC:2597 CYP1B1
MIMi601771 gene
neXtProtiNX_Q16678

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Anterior segment dysgenesis 6 (ASGD6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease 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 also OMIM:617315
Glaucoma 3, primary congenital, A (GLC3A)20 Publications
The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.
Disease 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 also OMIM:231300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05422728S → W in GLC3A. 1 PublicationCorresponds to variant dbSNP:rs780002791Ensembl.1
Natural variantiVAR_00835057W → C in GLC3A; juvenile onset; allele CYP1B1*11. 2 PublicationsCorresponds to variant dbSNP:rs72549387Ensembl.1
Natural variantiVAR_00124461G → E in GLC3A; allele CYP1B1*12; reduces enzymatic activity. 8 PublicationsCorresponds to variant dbSNP:rs28936700EnsemblClinVar.1
Natural variantiVAR_05422977L → P in GLC3A. 2 Publications1
Natural variantiVAR_02873681Y → N in GLC3A; adult-onset; hypomorphic allele; reduces the abundance of the enzyme. 4 PublicationsCorresponds to variant dbSNP:rs9282671EnsemblClinVar.1
Natural variantiVAR_054230115A → P in GLC3A. 1 PublicationCorresponds to variant dbSNP:rs764338357Ensembl.1
Natural variantiVAR_054231132M → R in GLC3A. 1 Publication1
Natural variantiVAR_054233144Q → P in GLC3A. 1 Publication1
Natural variantiVAR_054234144Q → R in GLC3A. 1 PublicationCorresponds to variant dbSNP:rs753847648Ensembl.1
Natural variantiVAR_054235145R → W in GLC3A. 1 Publication1
Natural variantiVAR_054238192D → V in GLC3A. 1 Publication1
Natural variantiVAR_054239193P → L in GLC3A. 2 PublicationsCorresponds to variant dbSNP:rs529769268Ensembl.1
Natural variantiVAR_054240198V → I in GLC3A. 1 PublicationCorresponds to variant dbSNP:rs59472972Ensembl.1
Natural variantiVAR_054241203N → S in GLC3A; reduces enzymatic activity. 1 Publication1
Natural variantiVAR_054242215S → I in GLC3A. 1 PublicationCorresponds to variant dbSNP:rs72549384Ensembl.1
Natural variantiVAR_054243229E → K in GLC3A; juvenile-onset; hypomorphic allele; reduces the abundance of the enzyme. 8 PublicationsCorresponds to variant dbSNP:rs57865060EnsemblClinVar.1
Natural variantiVAR_054244232G → R in GLC3A; adult-onset. 2 PublicationsCorresponds to variant dbSNP:rs104893628EnsemblClinVar.1
Natural variantiVAR_054245239S → R in GLC3A. 1 Publication1
Natural variantiVAR_054246269 – 271Missing in GLC3A. 1 Publication3
Natural variantiVAR_054247320V → L in GLC3A. 1 PublicationCorresponds to variant dbSNP:rs72549382EnsemblClinVar.1
Natural variantiVAR_054248330A → F in GLC3A; requires 2 nucleotide substitutions; unknown pathological significance. 1 Publication1
Natural variantiVAR_054250343Missing in GLC3A; reduces enzymatic activity and also the abundance of the enzyme. 2 Publications1
Natural variantiVAR_054251345L → F in GLC3A. 1 PublicationCorresponds to variant dbSNP:rs66583685Ensembl.1
Natural variantiVAR_054252355 – 358Missing in GLC3A. 1 Publication4
Natural variantiVAR_054253364V → M in GLC3A. 3 PublicationsCorresponds to variant dbSNP:rs72549379Ensembl.1
Natural variantiVAR_001245365G → W in GLC3A; allele CYP1B1*18. 1 PublicationCorresponds to variant dbSNP:rs55771538EnsemblClinVar.1
Natural variantiVAR_001246374D → N in GLC3A. 2 PublicationsCorresponds to variant dbSNP:rs104893622EnsemblClinVar.1
Natural variantiVAR_008352387E → K in GLC3A; allele CYP1B1*20. 6 PublicationsCorresponds to variant dbSNP:rs55989760EnsemblClinVar.1
Natural variantiVAR_054254388A → T in GLC3A. 1 Publication1
Natural variantiVAR_054255390R → C in GLC3A. 2 PublicationsCorresponds to variant dbSNP:rs148542782EnsemblClinVar.1
Natural variantiVAR_008353390R → H in GLC3A; allele CYP1B1*21. 3 PublicationsCorresponds to variant dbSNP:rs56010818Ensembl.1
Natural variantiVAR_054256390R → S in GLC3A. 2 PublicationsCorresponds to variant dbSNP:rs148542782EnsemblClinVar.1
Natural variantiVAR_054257399I → S in GLC3A. 1 PublicationCorresponds to variant dbSNP:rs72549378Ensembl.1
Natural variantiVAR_054258409V → F in GLC3A. 1 PublicationCorresponds to variant dbSNP:rs957253424Ensembl.1
Natural variantiVAR_054260423N → Y in GLC3A; juvenile-onset. 2 PublicationsCorresponds to variant dbSNP:rs104893629EnsemblClinVar.1
Natural variantiVAR_008354437P → L in GLC3A; allele CYP1B1*23. 3 PublicationsCorresponds to variant dbSNP:rs56175199Ensembl.1
Natural variantiVAR_018774443A → G in GLC3A; allele CYP1B1*7; unknown pathological significance. 4 PublicationsCorresponds to variant dbSNP:rs4986888EnsemblClinVar.1
Natural variantiVAR_054261444R → Q in GLC3A. 1 PublicationCorresponds to variant dbSNP:rs72549376Ensembl.1
Natural variantiVAR_054262445F → C in GLC3A. 1 Publication1
Natural variantiVAR_054263466G → D in GLC3A. 1 PublicationCorresponds to variant dbSNP:rs868208502Ensembl.1
Natural variantiVAR_001247469R → W in GLC3A; allele CYP1B1*25. 4 PublicationsCorresponds to variant dbSNP:rs28936701EnsemblClinVar.1
Natural variantiVAR_054264499E → G in GLC3A. 1 PublicationCorresponds to variant dbSNP:rs72549372Ensembl.1
Natural variantiVAR_054265515S → L in GLC3A; unknown pathological significance. 1 Publication1
Natural variantiVAR_054267523R → T in GLC3A; juvenile-onset. 1 Publication1
Natural variantiVAR_054268530D → G in GLC3A. 1 Publication1
Glaucoma 1, open angle, A (GLC1A)1 Publication
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).1 Publication
Disease 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 also OMIM:137750

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi395V → L: Invertes the 4OH E2:2OH E2 hydroxylation preference from 5.1 to 0.45. 1 Publication1

Keywords - Diseasei

Disease mutation, Glaucoma, Peters anomaly

Organism-specific databases

DisGeNETi1545
GeneReviewsiCYP1B1
MalaCardsiCYP1B1
MIMi137750 phenotype
231300 phenotype
617315 phenotype
OpenTargetsiENSG00000138061
Orphaneti98976 Congenital glaucoma
98977 Juvenile glaucoma
708 Peters anomaly
353225 Primary adult open-angle glaucoma
PharmGKBiPA27094

Chemistry databases

ChEMBLiCHEMBL4878
DrugBankiDB02342 2-Methoxyestradiol
DB00613 Amodiaquine
DB01169 Arsenic trioxide
DB00121 Biotin
DB00201 Caffeine
DB00363 Clozapine
DB01254 Dasatinib
DB00694 Daunorubicin
DB01234 Dexamethasone
DB01248 Docetaxel
DB00997 Doxorubicin
DB00530 Erlotinib
DB00783 Estradiol
DB00655 Estrone
DB00499 Flutamide
DB01026 Ketoconazole
DB00448 Lansoprazole
DB01065 Melatonin
DB01204 Mitoxantrone
DB00338 Omeprazole
DB00526 Oxaliplatin
DB01229 Paclitaxel
DB01174 Phenobarbital
DB01087 Primaquine
DB01168 Procarbazine
DB00396 Progesterone
DB00818 Propofol
DB02709 Resveratrol
DB00675 Tamoxifen
DB00624 Testosterone
DB00277 Theophylline
GuidetoPHARMACOLOGYi1320

Polymorphism and mutation databases

BioMutaiCYP1B1
DMDMi48429256

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000516601 – 543Cytochrome P450 1B1Add BLAST543

Proteomic databases

EPDiQ16678
MaxQBiQ16678
PaxDbiQ16678
PeptideAtlasiQ16678
PRIDEiQ16678
ProteomicsDBi61033

PTM databases

iPTMnetiQ16678
PhosphoSitePlusiQ16678

Expressioni

Tissue specificityi

Expressed in many tissues.1 Publication

Inductioni

By polycyclic aromatic hydrocarbons (PAH) and 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD).1 Publication

Gene expression databases

BgeeiENSG00000138061
CleanExiHS_CYP1B1
ExpressionAtlasiQ16678 baseline and differential
GenevisibleiQ16678 HS

Organism-specific databases

HPAiCAB011705
HPA026863

Interactioni

Protein-protein interaction databases

BioGridi107925, 2 interactors
IntActiQ16678, 2 interactors
STRINGi9606.ENSP00000260630

Chemistry databases

BindingDBiQ16678

Structurei

Secondary structure

1543
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi70 – 81Combined sources12
Beta strandi83 – 89Combined sources7
Beta strandi92 – 97Combined sources6
Helixi100 – 107Combined sources8
Turni108 – 113Combined sources6
Helixi121 – 125Combined sources5
Helixi126 – 129Combined sources4
Beta strandi132 – 135Combined sources4
Helixi139 – 154Combined sources16
Helixi162 – 183Combined sources22
Helixi184 – 188Combined sources5
Helixi194 – 209Combined sources16
Helixi219 – 224Combined sources6
Helixi228 – 235Combined sources8
Turni241 – 243Combined sources3
Helixi245 – 249Combined sources5
Helixi253 – 282Combined sources30
Helixi292 – 304Combined sources13
Helixi317 – 319Combined sources3
Helixi320 – 348Combined sources29
Helixi350 – 363Combined sources14
Helixi372 – 377Combined sources6
Helixi379 – 392Combined sources14
Beta strandi407 – 409Combined sources3
Beta strandi412 – 414Combined sources3
Beta strandi419 – 424Combined sources6
Helixi425 – 428Combined sources4
Turni431 – 433Combined sources3
Beta strandi435 – 439Combined sources5
Helixi442 – 445Combined sources4
Helixi454 – 457Combined sources4
Helixi473 – 490Combined sources18
Beta strandi491 – 495Combined sources5
Beta strandi505 – 513Combined sources9
Beta strandi518 – 524Combined sources7

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3PM0X-ray2.70A51-543[»]
ProteinModelPortaliQ16678
SMRiQ16678
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ16678

Family & Domainsi

Sequence similaritiesi

Belongs to the cytochrome P450 family.Curated

Phylogenomic databases

eggNOGiKOG0156 Eukaryota
COG2124 LUCA
GeneTreeiENSGT00900000140831
HOGENOMiHOG000036991
HOVERGENiHBG106944
InParanoidiQ16678
KOiK07410
OMAiAVCFGCR
OrthoDBiEOG091G0BT8
PhylomeDBiQ16678
TreeFamiTF105095

Family and domain databases

Gene3Di1.10.630.10, 1 hit
InterProiView protein in InterPro
IPR032971 CYP1B1
IPR001128 Cyt_P450
IPR017972 Cyt_P450_CS
IPR002401 Cyt_P450_E_grp-I
IPR036396 Cyt_P450_sf
PANTHERiPTHR24299:SF2 PTHR24299:SF2, 1 hit
PfamiView protein in Pfam
PF00067 p450, 1 hit
PRINTSiPR00463 EP450I
PR00385 P450
SUPFAMiSSF48264 SSF48264, 1 hit
PROSITEiView protein in PROSITE
PS00086 CYTOCHROME_P450, 1 hit

Sequencei

Sequence statusi: Complete.

Q16678-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGTSLSPNDP WPLNPLSIQQ TTLLLLLSVL ATVHVGQRLL RQRRRQLRSA
60 70 80 90 100
PPGPFAWPLI GNAAAVGQAA HLSFARLARR YGDVFQIRLG SCPIVVLNGE
110 120 130 140 150
RAIHQALVQQ GSAFADRPAF ASFRVVSGGR SMAFGHYSEH WKVQRRAAHS
160 170 180 190 200
MMRNFFTRQP RSRQVLEGHV LSEARELVAL LVRGSADGAF LDPRPLTVVA
210 220 230 240 250
VANVMSAVCF GCRYSHDDPE FRELLSHNEE FGRTVGAGSL VDVMPWLQYF
260 270 280 290 300
PNPVRTVFRE FEQLNRNFSN FILDKFLRHC ESLRPGAAPR DMMDAFILSA
310 320 330 340 350
EKKAAGDSHG GGARLDLENV PATITDIFGA SQDTLSTALQ WLLLLFTRYP
360 370 380 390 400
DVQTRVQAEL DQVVGRDRLP CMGDQPNLPY VLAFLYEAMR FSSFVPVTIP
410 420 430 440 450
HATTANTSVL GYHIPKDTVV FVNQWSVNHD PLKWPNPENF DPARFLDKDG
460 470 480 490 500
LINKDLTSRV MIFSVGKRRC IGEELSKMQL FLFISILAHQ CDFRANPNEP
510 520 530 540
AKMNFSYGLT IKPKSFKVNV TLRESMELLD SAVQNLQAKE TCQ
Length:543
Mass (Da):60,846
Last modified:June 7, 2004 - v2
Checksum:i46B6DA7368F63EA2
GO

Polymorphismi

Various CYP1B1 alleles are known. The sequence shown is that of allele CYP1B1*1.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05422728S → W in GLC3A. 1 PublicationCorresponds to variant dbSNP:rs780002791Ensembl.1
Natural variantiVAR_01175248R → G in allele CYP1B1*2, allele CYP1B1*5, allele CYP1B1*6 and allele CYP1B1*7. 12 PublicationsCorresponds to variant dbSNP:rs10012EnsemblClinVar.1
Natural variantiVAR_05422852P → L1 PublicationCorresponds to variant dbSNP:rs201824781EnsemblClinVar.1
Natural variantiVAR_00835057W → C in GLC3A; juvenile onset; allele CYP1B1*11. 2 PublicationsCorresponds to variant dbSNP:rs72549387Ensembl.1
Natural variantiVAR_00124461G → E in GLC3A; allele CYP1B1*12; reduces enzymatic activity. 8 PublicationsCorresponds to variant dbSNP:rs28936700EnsemblClinVar.1
Natural variantiVAR_02873568Q → R. Corresponds to variant dbSNP:rs9282670Ensembl.1
Natural variantiVAR_05422977L → P in GLC3A. 2 Publications1
Natural variantiVAR_02873681Y → N in GLC3A; adult-onset; hypomorphic allele; reduces the abundance of the enzyme. 4 PublicationsCorresponds to variant dbSNP:rs9282671EnsemblClinVar.1
Natural variantiVAR_054230115A → P in GLC3A. 1 PublicationCorresponds to variant dbSNP:rs764338357Ensembl.1
Natural variantiVAR_011753119A → S 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. 11 PublicationsCorresponds to variant dbSNP:rs1056827EnsemblClinVar.1
Natural variantiVAR_054231132M → R in GLC3A. 1 Publication1
Natural variantiVAR_054232144Q → H1 Publication1
Natural variantiVAR_054233144Q → P in GLC3A. 1 Publication1
Natural variantiVAR_054234144Q → R in GLC3A. 1 PublicationCorresponds to variant dbSNP:rs753847648Ensembl.1
Natural variantiVAR_054235145R → W in GLC3A. 1 Publication1
Natural variantiVAR_054236184G → S1 Publication1
Natural variantiVAR_054237189A → P Associated with ocular hypertension susceptibility. 1 Publication1
Natural variantiVAR_054238192D → V in GLC3A. 1 Publication1
Natural variantiVAR_054239193P → L in GLC3A. 2 PublicationsCorresponds to variant dbSNP:rs529769268Ensembl.1
Natural variantiVAR_054240198V → I in GLC3A. 1 PublicationCorresponds to variant dbSNP:rs59472972Ensembl.1
Natural variantiVAR_054241203N → S in GLC3A; reduces enzymatic activity. 1 Publication1
Natural variantiVAR_018869206S → N1 PublicationCorresponds to variant dbSNP:rs9341248Ensembl.1
Natural variantiVAR_054242215S → I in GLC3A. 1 PublicationCorresponds to variant dbSNP:rs72549384Ensembl.1
Natural variantiVAR_054243229E → K in GLC3A; juvenile-onset; hypomorphic allele; reduces the abundance of the enzyme. 8 PublicationsCorresponds to variant dbSNP:rs57865060EnsemblClinVar.1
Natural variantiVAR_054244232G → R in GLC3A; adult-onset. 2 PublicationsCorresponds to variant dbSNP:rs104893628EnsemblClinVar.1
Natural variantiVAR_054245239S → R in GLC3A. 1 Publication1
Natural variantiVAR_018870266R → L1 PublicationCorresponds to variant dbSNP:rs9341250Ensembl.1
Natural variantiVAR_054246269 – 271Missing in GLC3A. 1 Publication3
Natural variantiVAR_054247320V → L in GLC3A. 1 PublicationCorresponds to variant dbSNP:rs72549382EnsemblClinVar.1
Natural variantiVAR_054248330A → F in GLC3A; requires 2 nucleotide substitutions; unknown pathological significance. 1 Publication1
Natural variantiVAR_054249330A → S Associated with ocular hypertension susceptibility. 1 Publication1
Natural variantiVAR_054250343Missing in GLC3A; reduces enzymatic activity and also the abundance of the enzyme. 2 Publications1
Natural variantiVAR_054251345L → F in GLC3A. 1 PublicationCorresponds to variant dbSNP:rs66583685Ensembl.1
Natural variantiVAR_054252355 – 358Missing in GLC3A. 1 Publication4
Natural variantiVAR_054253364V → M in GLC3A. 3 PublicationsCorresponds to variant dbSNP:rs72549379Ensembl.1
Natural variantiVAR_001245365G → W in GLC3A; allele CYP1B1*18. 1 PublicationCorresponds to variant dbSNP:rs55771538EnsemblClinVar.1
Natural variantiVAR_016034368R → H in GLC3A and GLC1A; acts as GLC1A disease modifier in patients also carrying Val-399 mutation in MYOC. 8 PublicationsCorresponds to variant dbSNP:rs79204362EnsemblClinVar.1
Natural variantiVAR_001246374D → N in GLC3A. 2 PublicationsCorresponds to variant dbSNP:rs104893622EnsemblClinVar.1
Natural variantiVAR_008351379P → L in allele CYP1B1*19. 1 PublicationCorresponds to variant dbSNP:rs56305281Ensembl.1
Natural variantiVAR_008352387E → K in GLC3A; allele CYP1B1*20. 6 PublicationsCorresponds to variant dbSNP:rs55989760EnsemblClinVar.1
Natural variantiVAR_054254388A → T in GLC3A. 1 Publication1
Natural variantiVAR_054255390R → C in GLC3A. 2 PublicationsCorresponds to variant dbSNP:rs148542782EnsemblClinVar.1
Natural variantiVAR_008353390R → H in GLC3A; allele CYP1B1*21. 3 PublicationsCorresponds to variant dbSNP:rs56010818Ensembl.1
Natural variantiVAR_054256390R → S in GLC3A. 2 PublicationsCorresponds to variant dbSNP:rs148542782EnsemblClinVar.1
Natural variantiVAR_054257399I → S in GLC3A. 1 PublicationCorresponds to variant dbSNP:rs72549378Ensembl.1
Natural variantiVAR_054258409V → F in GLC3A. 1 PublicationCorresponds to variant dbSNP:rs957253424Ensembl.1
Natural variantiVAR_054259422V → G1 Publication1
Natural variantiVAR_054260423N → Y in GLC3A; juvenile-onset. 2 PublicationsCorresponds to variant dbSNP:rs104893629EnsemblClinVar.1
Natural variantiVAR_001248432L → V 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. 16 PublicationsCorresponds to variant dbSNP:rs1056836EnsemblClinVar.1
Natural variantiVAR_008354437P → L in GLC3A; allele CYP1B1*23. 3 PublicationsCorresponds to variant dbSNP:rs56175199Ensembl.1
Natural variantiVAR_028737441D → H. Corresponds to variant dbSNP:rs4986887Ensembl.1
Natural variantiVAR_018774443A → G in GLC3A; allele CYP1B1*7; unknown pathological significance. 4 PublicationsCorresponds to variant dbSNP:rs4986888EnsemblClinVar.1
Natural variantiVAR_054261444R → Q in GLC3A. 1 PublicationCorresponds to variant dbSNP:rs72549376Ensembl.1
Natural variantiVAR_054262445F → C in GLC3A. 1 Publication1
Natural variantiVAR_028738449D → E. Corresponds to variant dbSNP:rs1056837Ensembl.1
Natural variantiVAR_008355453N → S in allele CYP1B1*4. 11 PublicationsCorresponds to variant dbSNP:rs1800440EnsemblClinVar.1
Natural variantiVAR_054263466G → D in GLC3A. 1 PublicationCorresponds to variant dbSNP:rs868208502Ensembl.1
Natural variantiVAR_001247469R → W in GLC3A; allele CYP1B1*25. 4 PublicationsCorresponds to variant dbSNP:rs28936701EnsemblClinVar.1
Natural variantiVAR_054264499E → G in GLC3A. 1 PublicationCorresponds to variant dbSNP:rs72549372Ensembl.1
Natural variantiVAR_054265515S → L in GLC3A; unknown pathological significance. 1 Publication1
Natural variantiVAR_054266518V → A1 Publication1
Natural variantiVAR_054267523R → T in GLC3A; juvenile-onset. 1 Publication1
Natural variantiVAR_054268530D → G in GLC3A. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U03688 mRNA Translation: AAA19567.1
U56438 Genomic DNA Translation: AAC50809.1
AF450132, AF450131 Genomic DNA Translation: AAM50512.1
BT019979 mRNA Translation: AAV38782.1
AY393998 Genomic DNA Translation: AAQ87875.1
BC012049 mRNA Translation: AAH12049.1
AF171066 Genomic DNA Translation: AAG43404.1
CCDSiCCDS1793.1
PIRiA54116
RefSeqiNP_000095.2, NM_000104.3
UniGeneiHs.154654

Genome annotation databases

EnsembliENST00000610745; ENSP00000478561; ENSG00000138061
ENST00000614273; ENSP00000483678; ENSG00000138061
GeneIDi1545
KEGGihsa:1545
UCSCiuc032njx.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCP1B1_HUMAN
AccessioniPrimary (citable) accession number: Q16678
Secondary accession number(s): Q5TZW8, Q93089, Q9H316
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: June 7, 2004
Last modified: June 20, 2018
This is version 207 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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