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CYP17A1 W17* [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-5601860
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Steroid 17alpha-monooxygenase
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective CYP17A1 causes AH5 (Homo sapiens)
Defective CYP17A1 does not 17-hydroxylate P4 (Homo sapiens)
CYP17A1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
CYP17A1 W17* [endoplasmic reticulum membrane] (Homo sapiens)
Defective CYP17A1 does not 17-hydroxylate PREG (Homo sapiens)
CYP17A1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
CYP17A1 W17* [endoplasmic reticulum membrane] (Homo sapiens)
Defective CYP17A1 does not cleave 17aHPROG (Homo sapiens)
CYP17A1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
CYP17A1 W17* [endoplasmic reticulum membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:P05093 CYP17A1
Gene Names
CYP17A1, CYP17, S17AH
Chain
chain:1-508
Reference Genes
BioGPS Gene:1586 CYP17A1
COSMIC (genes):CYP17A1 CYP17A1
CTD Gene:1586 CYP17A1
dbSNP Gene:1586 CYP17A1
ENSEMBL:ENSG00000148795 CYP17A1
HGNC:2593 CYP17A1
Monarch:1586 CYP17A1
NCBI Gene:1586 CYP17A1
OMIM:609300 CYP17A1
UCSC:P05093 CYP17A1
Reference Transcript
RefSeq:NM_000102.3 CYP17A1
Other Identifiers
11723413_at
1562573_3p_at
1562573_PM_at
1562573_at
1586
16717970
205502_PM_at
205502_at
31789_at
3304524
3304525
3304526
3304527
3304528
3304529
3304530
3304531
3304532
3304533
3304534
3304535
3304536
3304537
3304538
3304539
3304540
3304541
3304542
3304543
586_s_at
7936050
90804_at
A_24_P52597
A_33_P3376478
GE57830
GO:0003824
GO:0004497
GO:0004508
GO:0005506
GO:0005783
GO:0005789
GO:0006629
GO:0006694
GO:0006702
GO:0006704
GO:0007548
GO:0008202
GO:0008395
GO:0016020
GO:0016491
GO:0016705
GO:0016829
GO:0019825
GO:0020037
GO:0022414
GO:0030424
GO:0042445
GO:0042446
GO:0042448
GO:0043025
GO:0043226
GO:0046872
HMNXSV003034080
Hs2.379542.1.S1_3p_x_at
ILMN_1760554
M31153_at
PH_hs_0025651
PH_hs_0036009
TC10001625.hg
g4503194_3p_at
Participates
as a member of
CYP17A1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Other forms of this molecule
CYP17A1 [endoplasmic reticulum membrane]
CYP17A1 R362C [endoplasmic reticulum membrane]
CYP17A1 W406R [endoplasmic reticulum membrane]
CYP17A1 R96Q [endoplasmic reticulum membrane]
CYP17A1 R358Q [endoplasmic reticulum membrane]
CYP17A1 S106P [endoplasmic reticulum membrane]
CYP17A1 R96W [endoplasmic reticulum membrane]
CYP17A1 R347H [endoplasmic reticulum membrane]
Modified Residues
Name
Nonsense mutation at L-tryptophan 17
Coordinate
17
PsiMod
L-tryptophan removal [MOD:01648]
A protein modification that effectively removes or replaces an L-tryptophan.
Disease
Name
Identifier
Synonyms
adrenal gland disease
DOID:9553
Cross References
ZINC - World Drugs
CP17A_HUMAN
Guide to Pharmacology - Targets
1361
OpenTargets
ENSG00000148795
ENSEMBL
ENST00000369887
,
ENSP00000358903
ZINC - FDA approved
CP17A_HUMAN
ZINC - Substances
CP17A_HUMAN
ZINC - Biogenic
CP17A_HUMAN
ZINC target
P05093
PRO
P05093
PDB
6WW0
,
5UYS
,
6CHI
,
3RUK
,
6CIR
,
4NKV
,
4NKZ
,
4NKX
,
5IRQ
,
5IRV
,
4NKW
,
8FDA
,
6WR1
,
4NKY
,
3SWZ
,
6WR0
,
6CIZ
ZINC - Investigational
CP17A_HUMAN
ZINC - Metabolites
CP17A_HUMAN
HPA
ENSG00000148795-CYP17A1
Pharos - Targets
P05093
Orphanet
CYP17A1
ZINC - Predictions - Purchasable
CP17A_HUMAN
HMDB Protein
HMDBP01043
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