This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the ster... See more...

Aliases for CYP17A1 Gene

Aliases for CYP17A1 Gene

  • Cytochrome P450 Family 17 Subfamily A Member 1 2 3 5
  • Steroid 17-Alpha-Monooxygenase 2 3 4
  • S17AH 2 3 4
  • Cytochrome P450, Subfamily XVII (Steroid 17-Alpha-Hydroxylase), Adrenal Hyperplasia 2 3
  • Cytochrome P450, Family 17, Subfamily A, Polypeptide 1 2 3
  • Steroid 17-Alpha-Hydroxylase/17,20 Lyase 3 4
  • 17-Alpha-Hydroxyprogesterone Aldolase 3 4
  • Cytochrome P450 17A1 3 4
  • Cytochrome P450-C17 3 4
  • Cytochrome P450c17 3 4
  • P450C17 2 3
  • CYPXVII 3 4
  • CYP17 3 4
  • CPT7 2 3
  • Cytochrome P450 XVIIA1 3
  • EC 1.14.14.19 4
  • EC 1.14.14.32 4
  • EC 1.14.99.9 50
  • EC 1.14.99 50
  • CYP17A1 5

External Ids for CYP17A1 Gene

Previous HGNC Symbols for CYP17A1 Gene

  • CYP17

Previous GeneCards Identifiers for CYP17A1 Gene

  • GC10M103823
  • GC10M104721
  • GC10M104254
  • GC10M104580
  • GC10M098225

Summaries for CYP17A1 Gene

Entrez Gene Summary for CYP17A1 Gene

  • This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008]

GeneCards Summary for CYP17A1 Gene

CYP17A1 (Cytochrome P450 Family 17 Subfamily A Member 1) is a Protein Coding gene. Diseases associated with CYP17A1 include Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency and Transsexualism. Among its related pathways are Androstenedione and testosterone biosynthesis and metabolism p.1 and Prolactin Signaling Pathway. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen.

UniProtKB/Swiss-Prot Summary for CYP17A1 Gene

  • A cytochrome P450 monooxygenase involved in corticoid and androgen biosynthesis (PubMed:9452426, PubMed:27339894, PubMed:22266943, PubMed:25301938). Catalyzes 17-alpha hydroxylation of C21 steroids, which is common for both pathways. A second oxidative step, required only for androgen synthesis, involves an acyl-carbon cleavage. The 17-alpha hydroxy intermediates, as part of adrenal glucocorticoids biosynthesis pathway, are precursors of cortisol (PubMed:9452426, PubMed:25301938) (Probable). Hydroxylates steroid hormones, pregnenolone and progesterone to form 17-alpha hydroxy metabolites, followed by the cleavage of the C17-C20 bond to form C19 steroids, dehydroepiandrosterone (DHEA) and androstenedione (PubMed:9452426, PubMed:27339894, PubMed:22266943, PubMed:25301938). Has 16-alpha hydroxylase activity. Catalyzes 16-alpha hydroxylation of 17-alpha hydroxy pregnenolone, followed by the cleavage of the C17-C20 bond to form 16-alpha-hydroxy DHEA. Also 16-alpha hydroxylates androgens, relevant for estriol synthesis (PubMed:27339894, PubMed:25301938). 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 (CPR; NADPH-ferrihemoprotein reductase) (PubMed:9452426, PubMed:27339894, PubMed:22266943, PubMed:25301938).

Tocris Summary for CYP17A1 Gene

  • Cytochrome P450 (CYP450) enzymes are a diverse group of catalysts that contains 57 members in humans. CYPs are usually membrane-bound and are localized to the inner mitochondrial or endoplasmic reticular membrane. CYPs have oxygenase activity.

Gene Wiki entry for CYP17A1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYP17A1 Gene

Genomics for CYP17A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CYP17A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J102838 Promoter/Enhancer 0.9 EPDnew Ensembl 250.7 +0.1 71 0.8 NFIC ZBTB48 ZNF530 GLIS1 NFIA ZBTB8A ZNF660 ATF7 ZFHX2 ZNF335 CYP17A1 piR-36575-015 piR-50975-003 AS3MT lnc-ARL3-2 WBP1L
GH10J102743 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.7 +92.8 92849 3.2 SP1 ZNF207 IKZF1 SIX5 ZNF592 KLF9 POLR2A BRCA1 ZBTB10 YY1 WBP1L CYP17A1-AS1 HSALNG0080317 PDCD11 PPRC1 SFXN2 AS3MT GBF1 PCGF6 LDB1
GH10J102772 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.5 +58.9 58874 11.7 NCOR1 IKZF1 ZNF600 ATF2 CEBPA ATF3 YY1 CEBPB REST MNT WBP1L SFXN2 AS3MT ARL3 PPRC1 NFKB2 LDB1 PDCD11 BORCS7 CYP17A1
GH10J102811 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.3 +21.6 21571 10.6 NCOR1 ZNF600 SSRP1 ZNF592 KLF9 CEBPA ZNF10 NFIC ZIC2 YY1 piR-48753 AS3MT BORCS7 CYP17A1 PFN1P11 PTGES3P4 SFXN2 ARL3 CNNM2 WBP1L
GH10J102785 Promoter/Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 11.6 +51.3 51273 2.3 RXRA HNF4A RAD21 MAX SP1 GABPA NR2F2 CEBPB AS3MT CYP17A1 PFN1P11 PTGES3P4 BORCS7 CNNM2 SFXN2 NFKB2 NT5C2 RF00026-161
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYP17A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYP17A1

Top Transcription factor binding sites by QIAGEN in the CYP17A1 gene promoter:
  • C/EBPbeta
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • GR
  • GR-alpha

Genomic Locations for CYP17A1 Gene

Latest Assembly
chr10:102,830,531-102,837,472
(GRCh38/hg38)
Size:
6,942 bases
Orientation:
Minus strand

Previous Assembly
chr10:104,590,288-104,597,170
(GRCh37/hg19 by Entrez Gene)
Size:
6,883 bases
Orientation:
Minus strand

chr10:104,590,288-104,597,290
(GRCh37/hg19 by Ensembl)
Size:
7,003 bases
Orientation:
Minus strand

Genomic View for CYP17A1 Gene

Genes around CYP17A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP17A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP17A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP17A1 Gene

Proteins for CYP17A1 Gene

  • Protein details for CYP17A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05093-CP17A_HUMAN
    Recommended name:
    Steroid 17-alpha-hydroxylase/17,20 lyase
    Protein Accession:
    P05093
    Secondary Accessions:
    • Q5TZV7

    Protein attributes for CYP17A1 Gene

    Size:
    508 amino acids
    Molecular mass:
    57371 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CYP17A1 Gene

neXtProt entry for CYP17A1 Gene

Selected DME Specific Peptides for CYP17A1 Gene

P05093:
  • EAQAEGS
  • LKIFPNK
  • KYGPIYS
  • SYLPFGAG
  • AFLLHNPQVKKK
  • NLWALHH
  • LLQRFDL
  • HQLAKEVL
  • KGIAFAD
  • EVLIKKGK
  • PKVVFLID
  • VGSLPFLP
  • DIFGAGVET
  • VFLIDSFKVKI
  • LEATIREVLR
  • ATFALFKDGDQ
  • PDDGQLP
  • IDISFPVFVA
  • DSSIGEF
  • LAYLFWP
  • QAKMNSDN
  • EVLRLRPV
  • KKLYEEIDQ
  • RTPTISDRN
  • GFSRTPT
  • KEKFRSDS
  • TNVISLICFN

Post-translational modifications for CYP17A1 Gene

  • Phosphorylation is necessary for 17,20-lyase, but not for 17-alpha-hydroxylase activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP17A1 Gene

Antibodies for research

Domains & Families for CYP17A1 Gene

Gene Families for CYP17A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CYP17A1 Gene

InterPro:
Blocks:
  • E-class P450 group I signature

Suggested Antigen Peptide Sequences for CYP17A1 Gene

GenScript: Design optimal peptide antigens:
  • Steroid 17-alpha-hydroxylase/17,20 lyase (C7F7K7_HUMAN)
  • Steroid 17-alpha-monooxygenase (CP17A_HUMAN)
  • Truncated CYP17 (Q09QU3_HUMAN)
  • cDNA FLJ78498, highly similar to Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA (Q1HB44_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P05093

UniProtKB/Swiss-Prot:

CP17A_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP17A1: view

Function for CYP17A1 Gene

Molecular function for CYP17A1 Gene

UniProtKB/Swiss-Prot Function:
A cytochrome P450 monooxygenase involved in corticoid and androgen biosynthesis (PubMed:9452426, PubMed:27339894, PubMed:22266943, PubMed:25301938). Catalyzes 17-alpha hydroxylation of C21 steroids, which is common for both pathways. A second oxidative step, required only for androgen synthesis, involves an acyl-carbon cleavage. The 17-alpha hydroxy intermediates, as part of adrenal glucocorticoids biosynthesis pathway, are precursors of cortisol (PubMed:9452426, PubMed:25301938) (Probable). Hydroxylates steroid hormones, pregnenolone and progesterone to form 17-alpha hydroxy metabolites, followed by the cleavage of the C17-C20 bond to form C19 steroids, dehydroepiandrosterone (DHEA) and androstenedione (PubMed:9452426, PubMed:27339894, PubMed:22266943, PubMed:25301938). Has 16-alpha hydroxylase activity. Catalyzes 16-alpha hydroxylation of 17-alpha hydroxy pregnenolone, followed by the cleavage of the C17-C20 bond to form 16-alpha-hydroxy DHEA. Also 16-alpha hydroxylates androgens, relevant for estriol synthesis (PubMed:27339894, PubMed:25301938). 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 (CPR; NADPH-ferrihemoprotein reductase) (PubMed:9452426, PubMed:27339894, PubMed:22266943, PubMed:25301938).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=A C(21)-steroid + [reduced NADPH--hemoprotein reductase] + O(2) = a 17-alpha-hydroxy-C(21)-steroid + [oxidized NADPH--hemoprotein reductase] + H(2)O.; EC=1.14.14.19; Evidence={ECO:0000269|PubMed:22266943, ECO:0000269|PubMed:25301938, ECO:0000269|PubMed:27339894};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=O2 + progesterone + reduced [NADPH--hemoprotein reductase] = 17alpha-hydroxyprogesterone + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:46308, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:17026, ChEBI:CHEBI:17252, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210; Evidence={ECO:0000269|PubMed:25301938, ECO:0000269|PubMed:9452426};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=17alpha-hydroxyprogesterone + O2 + reduced [NADPH--hemoprotein reductase] = acetate + androst-4-ene-3,17-dione + 2 H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:14753, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:16422, ChEBI:CHEBI:17252, ChEBI:CHEBI:30089, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210; EC=1.14.14.32; Evidence={ECO:0000269|PubMed:22266943, ECO:0000269|PubMed:27339894};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=17alpha-hydroxyprogesterone + O2 + reduced [NADPH--hemoprotein reductase] = 16alpha,17alpha-dihydroxyprogesterone + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:53216, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:763, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:17252, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210; Evidence={ECO:0000269|PubMed:27339894};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=16alpha,17alpha-dihydroxyprogesterone + O2 + reduced [NADPH--hemoprotein reductase] = 6beta,16alpha,17alpha-trihydroxyprogesterone + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:53220, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:763, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:137046; Evidence={ECO:0000269|PubMed:27339894};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=O2 + pregnenolone + reduced [NADPH--hemoprotein reductase] = 17alpha-hydroxypregnenolone + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:50236, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:16581, ChEBI:CHEBI:28750, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210; Evidence={ECO:0000269|PubMed:9452426};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=17alpha-hydroxypregnenolone + O2 + reduced [NADPH--hemoprotein reductase] = 3beta-hydroxyandrost-5-en-17-one + acetate + 2 H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:50244, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:28689, ChEBI:CHEBI:28750, ChEBI:CHEBI:30089, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210; EC=1.14.14.32; Evidence={ECO:0000269|PubMed:22266943, ECO:0000269|PubMed:25301938, ECO:0000269|PubMed:27339894};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=16alpha,17alpha-dihydroxypregnenolone + O2 + reduced [NADPH--hemoprotein reductase] = 3beta,16alpha-dihydroxy-androst-5-en-17-one + acetate + 2 H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:53224, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:27771, ChEBI:CHEBI:30089, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:137049; Evidence={ECO:0000269|PubMed:25301938, ECO:0000269|PubMed:27339894};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3beta-hydroxyandrost-5-en-17-one + O2 + reduced [NADPH--hemoprotein reductase] = 3beta,16alpha-dihydroxy-androst-5-en-17-one + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:47220, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:27771, ChEBI:CHEBI:28689, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210; Evidence={ECO:0000269|PubMed:27339894};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=androst-4-ene-3,17-dione + O2 + reduced [NADPH--hemoprotein reductase] = 16alpha-hydroxyandrost-4-ene-3,17-dione + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:53228, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:16422, ChEBI:CHEBI:27582, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210; Evidence={ECO:0000269|PubMed:27339894};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=10.5 uM for progesterone (17-alpha hydroxylation) {ECO:0000269|PubMed:25301938}; KM=0.93 uM for pregnenolone (17-alpha hydroxylation) {ECO:0000269|PubMed:25301938}; KM=1.2 uM for 17alpha-hydroxypregnenolone (17,20 lyase activity) {ECO:0000269|PubMed:25301938}; Note=kcat is 1.01 min(-1) with progesterone as substrate. kcat is 0.39 min(-1) with pregnenolone as substrate. kcat is 0.24 min(-1) with 17alpha-hydroxypregnenolone as substrate.;
UniProtKB/Swiss-Prot EnzymeRegulation:
Regulated predominantly by intracellular cAMP levels (PubMed:10720067). The 17,20-lyase activity is stimulated by cytochrome b5, which acts as an allosteric effector increasing the Vmax of the lyase activity (PubMed:9452426, PubMed:27339894).

Enzyme Numbers (IUBMB) for CYP17A1 Gene

Phenotypes From GWAS Catalog for CYP17A1 Gene

Gene Ontology (GO) - Molecular Function for CYP17A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity IEA --
GO:0004508 steroid 17-alpha-monooxygenase activity IEA,TAS --
GO:0005506 iron ion binding IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA --
genes like me logo Genes that share ontologies with CYP17A1: view
genes like me logo Genes that share phenotypes with CYP17A1: view

Human Phenotype Ontology for CYP17A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYP17A1 Gene

MGI Knock Outs for CYP17A1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP17A1

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for CYP17A1 Gene

Localization for CYP17A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP17A1 Gene

Endoplasmic reticulum membrane. Microsome membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYP17A1 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CYP17A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum NAS 9326943
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0030424 axon IEA --
GO:0031090 organelle membrane IEA --
genes like me logo Genes that share ontologies with CYP17A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYP17A1 Gene

Pathways & Interactions for CYP17A1 Gene

genes like me logo Genes that share pathways with CYP17A1: view

Pathways by source for CYP17A1 Gene

1 GeneGo (Thomson Reuters) pathway for CYP17A1 Gene
  • Androstenedione and testosterone biosynthesis and metabolism p.1
1 Cell Signaling Technology pathway for CYP17A1 Gene

UniProtKB/Swiss-Prot P05093-CP17A_HUMAN

  • Pathway: Steroid hormone biosynthesis.
  • Pathway: Steroid biosynthesis; glucocorticoid biosynthesis.

SIGNOR curated interactions for CYP17A1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CYP17A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006694 steroid biosynthetic process TAS 3500022
GO:0006702 androgen biosynthetic process TAS --
GO:0006704 glucocorticoid biosynthetic process IEA,TAS --
GO:0007548 sex differentiation TAS 9326943
GO:0008202 steroid metabolic process IDA 22266943
genes like me logo Genes that share ontologies with CYP17A1: view

Drugs & Compounds for CYP17A1 Gene

(79) Drugs for CYP17A1 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Abiraterone Approved Pharma Target, inhibitor Potent CYP17 inhibitor 0
Dexamethasone Approved, Investigational, Vet_approved Pharma Enzyme, inhibitor Anti-inflammatory glucocorticoid 3149
Ketoconazole Approved, Investigational Pharma Target, inhibitor Inhibitor of cyclosporine oxidase and testosterone 6 beta-hydroxylase, Cytochrome P450c17 inhibitor 196
Progesterone Approved, Vet_approved Pharma Target, Enzyme, substrate, inhibitor Endogenous progesterone receptor agonist 805
Dehydroepiandrosterone Approved, Investigational Nutra Enzyme, product of 119

(41) Additional Compounds for CYP17A1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
11beta-Hydroxyprogesterone
  • (11beta)-11-Hydroxypregn-4-ene-3,20-dione
  • 21-Deoxycorticosterone
  • (11b)-11-Hydroxypregn-4-ene-3,20-dione
  • (11Β)-11-hydroxypregn-4-ene-3,20-dione
  • 11b-Hydroxyprogesterone
600-57-7
17a,20a-Dihydroxycholesterol
  • 17a,21-Dihydroxypregnenolone
  • 17Α,21-dihydroxypregnenolone
  • 17alpha,21-Dihydroxypreg-nenolone
  • 17, 21-Dihydroxypregnenolone
  • 3Β,17α,21-trihydroxypregnenone
1167-48-2
17a-Hydroxypregnenolone
  • (3beta)-3,17-Dihydroxypregn-5-en-20-one
  • 17-Hydroxypregnenolone
  • 5-Pregnen-3beta,17alpha-diol-20-one
  • (3b)-3,17-Dihydroxypregn-5-en-20-one
  • (3Β)-3,17-dihydroxypregn-5-en-20-one
387-79-1
21-deoxycortisol
  • 11b,17-Dihydroxy-pregn-4-ene-3,20-dione
  • 11b,17-Dihydroxy-progesterone
  • 11b,17a-Dihydroxypregn-4-ene-3,20-dione
  • 11b,17a-Dihydroxyprogesterone
  • 21-Dehydrohydrocortisone
641-77-0
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton

(5) Tocris Compounds for CYP17A1 Gene

Compound Action Cas Number
Anastrozole Potent aromatase (CYP19) inhibitor 120511-73-1
Exemestane Steroidal aromatase (CYP19) inhibitor 107868-30-4
Ketoconazole Cytochrome P450c17 inhibitor 65277-42-1
TMS Cytochrome P450 1B1 inhibitor 24144-92-1
YM 511 Potent aromatase (CYP19) inhibitor 148869-05-0

(7) ApexBio Compounds for CYP17A1 Gene

Compound Action Cas Number
Abiraterone Potent CYP17 inhibitor 154229-19-3
Abiraterone acetate Cytochrome p450 17a1 inhibitor 154229-18-2
Dehydroepiandrosterone (DHEA) Endogenous steroid hormone 53-43-0
Orteronel For castration-resistant prostate cancer, clinical candidate 566939-85-3
TAK-700 (Orteronel) Human 17,20-lyase inhibitor 426219-18-3
TMS 24144-92-1
TOK-001 CYP17 inhibitor and androgen receptor (AR) antagonist 851983-85-2
genes like me logo Genes that share compounds with CYP17A1: view

Drug products for research

Transcripts for CYP17A1 Gene

mRNA/cDNA for CYP17A1 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP17A1

Alternative Splicing Database (ASD) splice patterns (SP) for CYP17A1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b
SP1: -
SP2: - - -
SP3: - -
SP4:
SP5: - -
SP6: - -
SP7:

Relevant External Links for CYP17A1 Gene

GeneLoc Exon Structure for
CYP17A1

Expression for CYP17A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CYP17A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYP17A1 Gene

This gene is overexpressed in Adrenal Gland (x52.1).

Protein differential expression in normal tissues from HIPED for CYP17A1 Gene

This gene is overexpressed in Fetal testis (42.6) and Adrenal (19.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CYP17A1 Gene



Protein tissue co-expression partners for CYP17A1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYP17A1

SOURCE GeneReport for Unigene cluster for CYP17A1 Gene:

Hs.438016

Evidence on tissue expression from TISSUES for CYP17A1 Gene

  • Nervous system(4.6)
  • Adrenal gland(4.3)
  • Kidney(3.2)
  • Liver(2.6)
  • Blood(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP17A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • ear
  • pituitary gland
Thorax:
  • breast
  • heart
Abdomen:
  • adrenal gland
  • kidney
  • pancreas
Pelvis:
  • ovary
  • penis
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with CYP17A1: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt for CYP17A1 Gene

Orthologs for CYP17A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CYP17A1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CYP17A1 29 30
  • 99.41 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CYP17A1 29 30
  • 83.99 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CYP17A1 29 30
  • 80.12 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cyp17a1 29
  • 76.2 (n)
Mouse
(Mus musculus)
Mammalia Cyp17a1 29 16 30
  • 74.82 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CYP17A1 30
  • 48 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 26 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves CYP17A1 30
  • 47 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CYP17A1 30
  • 48 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.725 29
Zebrafish
(Danio rerio)
Actinopterygii cyp17a1 30
  • 47 (a)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8196 29
Fruit Fly
(Drosophila melanogaster)
Insecta spo 30
  • 23 (a)
ManyToMany
spok 30
  • 23 (a)
ManyToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons CYP706A3 29
  • 42.66 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0700500 29
  • 43.9 (n)
Species where no ortholog for CYP17A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CYP17A1 Gene

ENSEMBL:
Gene Tree for CYP17A1 (if available)
TreeFam:
Gene Tree for CYP17A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CYP17A1: view image
Alliance of Genome Resources:
Additional Orthologs for CYP17A1

Paralogs for CYP17A1 Gene

(23) SIMAP similar genes for CYP17A1 Gene using alignment to 3 proteins:

  • CP17A_HUMAN
  • C7F7K7_HUMAN
  • Q1HB44_HUMAN
genes like me logo Genes that share paralogs with CYP17A1: view

No data available for Paralogs for CYP17A1 Gene

Variants for CYP17A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYP17A1 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
1030596 Pathogenic: Deficiency of steroid 17-alpha-monooxygenase 102,835,328(-) C/T
NM_000102.4(CYP17A1):c.362G>A (p.Trp121Ter)
NONSENSE
838889 Pathogenic: not provided 102,834,113(-) T/TG
NM_000102.4(CYP17A1):c.675dup (p.Asn226fs)
FRAMESHIFT
839722 Pathogenic: not provided 102,833,022(-) TCCATTTAA/T
NM_000102.4(CYP17A1):c.932_939del (p.Val311fs)
FRAMESHIFT
845387 Likely Pathogenic: not provided 102,837,360(-) A/G
NM_000102.4(CYP17A1):c.2T>C (p.Met1Thr)
INITIATIOR_CODON_VARIANT,MISSENSE
877968 Uncertain Significance: Deficiency of steroid 17-alpha-monooxygenase 102,830,741(-) G/A
NM_000102.4(CYP17A1):c.1488C>T (p.Arg496=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CYP17A1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CYP17A1 Gene

Variant ID Type Subtype PubMed ID
nsv526666 CNV loss 19592680
nsv7527 CNV insertion 18451855

Variation tolerance for CYP17A1 Gene

Residual Variation Intolerance Score: 11.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.32; 7.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYP17A1 Gene

The Human Cytochrome P450 Allele Nomenclature Database
CYP17A1
Human Gene Mutation Database (HGMD)
CYP17A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP17A1
Leiden Open Variation Database (LOVD)
CYP17A1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP17A1 Gene

Disorders for CYP17A1 Gene

MalaCards: The human disease database

(60) MalaCards diseases for CYP17A1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
  • adrenal hyperplasia v
transsexualism
antley-bixler syndrome
  • trapezoidocephaly-synostosis syndrome
pseudohermaphroditism
  • indeterminate sex and pseudohermaphroditism
conn's syndrome
  • conn syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CP17A_HUMAN
  • Adrenal hyperplasia 5 (AH5) [MIM:202110]: A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic). {ECO:0000269 PubMed:10720067, ECO:0000269 PubMed:11549685, ECO:0000269 PubMed:11836339, ECO:0000269 PubMed:12466376, ECO:0000269 PubMed:14671162, ECO:0000269 PubMed:1515452, ECO:0000269 PubMed:1714904, ECO:0000269 PubMed:1740503, ECO:0000269 PubMed:19793597, ECO:0000269 PubMed:24140098, ECO:0000269 PubMed:24498484, ECO:0000269 PubMed:25650406, ECO:0000269 PubMed:2808364, ECO:0000269 PubMed:8027220, ECO:0000269 PubMed:8245018, ECO:0000269 PubMed:8345056, ECO:0000269 PubMed:8396144, ECO:0000269 PubMed:8550762, ECO:0000269 Ref.23}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CYP17A1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CYP17A1: view

No data available for Genatlas for CYP17A1 Gene

Publications for CYP17A1 Gene

  1. Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency. (PMID: 12466376) Van Den Akker EL … De Jong FH (The Journal of clinical endocrinology and metabolism 2002) 3 4 22 72
  2. Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency. (PMID: 11549685) Gupta MK … Auchus RJ (The Journal of clinical endocrinology and metabolism 2001) 3 4 22 72
  3. CYP17 polymorphisms and prostate cancer outcomes. (PMID: 20503394) Wright JL … Stanford JL (The Prostate 2010) 3 22 40
  4. Dietary isoflavone intake, polymorphisms in the CYP17, CYP19, 17beta-HSD1, and SHBG genes, and risk of breast cancer in case-control studies in Japanese, Japanese Brazilians, and non-Japanese Brazilians. (PMID: 20432167) Iwasaki M … Tsugane S (Nutrition and cancer 2010) 3 22 40
  5. Polymorphisms of estrogen-related genes jointly confer susceptibility to human spermatogenic defect. (PMID: 18980759) Su MT … Kuo PL (Fertility and sterility 2010) 3 22 40

Products for CYP17A1 Gene

Sources for CYP17A1 Gene