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CYP1B1 R469W [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-5605132
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Cytochrome P450 1B1, CP1B_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective CYP1B1 causes Glaucoma (Homo sapiens)
Defective CYP1B1 does not 4-hydroxylate EST17b (Homo sapiens)
CYP1B1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
CYP1B1 R469W [endoplasmic reticulum membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q16678 CYP1B1
Gene Names
CYP1B1
Chain
chain:1-543
Reference Genes
BioGPS Gene:1545 CYP1B1
COSMIC (genes):CYP1B1 CYP1B1
CTD Gene:1545 CYP1B1
dbSNP Gene:1545 CYP1B1
ENSEMBL:ENSG00000138061 CYP1B1
HGNC:2597 CYP1B1
Monarch:1545 CYP1B1
NCBI Gene:1545 CYP1B1
OMIM:601771 CYP1B1
UCSC:Q16678 CYP1B1
Reference Transcript
RefSeq:NM_000104.3 CYP1B1
Other Identifiers
11720409_s_at
11720410_s_at
11720411_s_at
11745721_s_at
11747104_s_at
1545
16896561
202434_PM_s_at
202434_s_at
202435_PM_s_at
202435_s_at
202436_PM_s_at
202436_s_at
202437_PM_s_at
202437_s_at
2548706
2548707
2548708
2548709
2548710
2548711
2548712
2548713
2548714
2548715
2548716
2548719
2548720
2548721
2548722
2548725
2548726
40071_at
8051583
859_at
A_23_P209625
A_33_P3290343
GE62329
GO:0001525
GO:0002930
GO:0003824
GO:0004497
GO:0005506
GO:0005515
GO:0005739
GO:0005783
GO:0005789
GO:0006304
GO:0006355
GO:0006629
GO:0006631
GO:0006805
GO:0006809
GO:0007155
GO:0007584
GO:0008202
GO:0008210
GO:0008285
GO:0008395
GO:0008584
GO:0008631
GO:0009404
GO:0009636
GO:0010575
GO:0014070
GO:0014911
GO:0016020
GO:0016125
GO:0016491
GO:0016705
GO:0016709
GO:0016712
GO:0016829
GO:0019369
GO:0019373
GO:0020037
GO:0022414
GO:0030198
GO:0030199
GO:0030325
GO:0030336
GO:0032088
GO:0032354
GO:0032355
GO:0033629
GO:0042445
GO:0042537
GO:0042572
GO:0042574
GO:0043065
GO:0043226
GO:0043231
GO:0043534
GO:0043542
GO:0044849
GO:0045727
GO:0045766
GO:0046427
GO:0046466
GO:0046685
GO:0046872
GO:0048514
GO:0048545
GO:0048856
GO:0048870
GO:0061298
GO:0061304
GO:0061548
GO:0070301
GO:0070330
GO:0071320
GO:0071356
GO:0071373
GO:0071387
GO:0071393
GO:0071407
GO:0071548
GO:0071603
GO:0071680
GO:0097237
GO:0097267
GO:0101020
GO:0106256
GO:1904681
GO:2000377
GO:2000379
GO:2000573
HMNXSV003006656
Hs.154654.0.S1_3p_a_at
Hs.154654.0.S2_3p_a_at
Hs.154654.0.S3_3p_a_at
ILMN_1693338
PH_hs_0009308
TC02001749.hg
TC02001750.hg
U03688_at
g13325059_3p_a_at
Participates
as a member of
CYP1B1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Other forms of this molecule
CYP1B1 [endoplasmic reticulum membrane]
CYP1B1 W57* [endoplasmic reticulum membrane]
CYP1B1 P52L [endoplasmic reticulum membrane]
CYP1B1 R368H [endoplasmic reticulum membrane]
CYP1B1 E387K [endoplasmic reticulum membrane]
CYP1B1 G61E [endoplasmic reticulum membrane]
CYP1B1 R390H [endoplasmic reticulum membrane]
CYP1B1 V432L [endoplasmic reticulum membrane]
CYP1B1 M1T [endoplasmic reticulum membrane]
Modified Residues
Name
L-arginine 469 replaced with L-tryptophan
Coordinate
469
PsiMod
L-tryptophan residue [MOD:00027]
A protein modification that effectively converts a source amino acid residue to L-tryptophan.
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name
Identifier
Synonyms
primary congenital glaucoma
DOID:0050593
Cross References
ZINC - World Drugs
CP1B1_HUMAN
Guide to Pharmacology - Targets
1320
OpenTargets
ENSG00000138061
ENSEMBL
ENSP00000478839
,
ENST00000614273
,
ENSP00000483678
,
ENSP00000478561
,
ENST00000610745
,
ENST00000490576
ZINC - FDA approved
CP1B1_HUMAN
ZINC - Substances
CP1B1_HUMAN
ZINC target
Q16678
ZINC - Biogenic
CP1B1_HUMAN
PRO
Q16678
GlyGen
Q16678
PDB
3PM0
,
6IQ5
ZINC - Investigational
CP1B1_HUMAN
ZINC - Metabolites
CP1B1_HUMAN
IntEnz
1.14.14.1
HPA
ENSG00000138061-CYP1B1
Pharos - Targets
Q16678
Orphanet
CYP1B1
ZINC - Predictions - Purchasable
CP1B1_HUMAN
HMDB Protein
HMDBP01547
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