CYP17A1 Gene

HGNC Family	Cytochrome P450s (CYP)
Name	cytochrome P450, family 17, subfamily A, polypeptide 1
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Cytochrome P450 17A1 (CYP17A1), also known as P450c17, is a dual‐function enzyme that catalyzes both 17α‐hydroxylase and 17,20‐lyase reactions, serving as a critical control point in steroid biosynthesis. Its activity converts pregnenolone and progesterone into key androgen precursors such as dehydroepiandrosterone and androstenedione, which are subsequently transformed into potent androgens necessary for normal reproductive function and for androgen receptor activation in prostate cancer cells."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In the context of castration‐resistant prostate cancer (CRPC), CYP17A1‐dependent synthesis allows tumors to sustain intratumoral androgen levels despite systemic deprivation; accordingly, selective inhibition of CYP17A1 with agents such as abiraterone acetate has emerged as a valuable therapeutic strategy."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Structural studies of CYP17A1 have provided novel insights into the molecular determinants of its dual catalytic functions and have paved the way for designing inhibitors that more selectively target its androgen‐generating lyase activity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Beyond its role in androgen production, CYP17A1 has been implicated in a range of clinical conditions. Genetic variants near or within the CYP17A1 gene have been associated with interindividual differences in blood pressure regulation"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "and, in some populations, with altered risk for prostate cancer and benign prostatic hyperplasia."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " During adrenal development, regulatory pathways including Wnt signaling influence CYP17A1 expression patterns, with aberrant expression linked to changes in steroid output that may mimic sex‐specific profiles."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " Furthermore, in women with polycystic ovary syndrome, increased transcription of CYP17A1 contributes to hyperandrogenemia, underscoring its importance in ovarian steroidogenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n At the molecular level, CYP17A1 function is finely tuned by both genetic and post‐translational mechanisms. Studies of common promoter polymorphisms in CYP17A1 have explored potential correlations with circulating sex hormone levels, although the functional impact of these variants appears modest in postmenopausal women."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": " In addition, post‐translational modifications—such as phosphorylation and the modulatory action of cytochrome b5—independently enhance the enzyme’s 17,20‐lyase activity, thereby influencing the balance between glucocorticoid and androgen production."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": " Importantly, in congenital adrenal hyperplasia cases with combined P450c17 and P450c21 deficiencies, mutations in the electron donor P450 oxidoreductase underscore the indispensable role of CYP17A1 in normal steroidogenic pathways."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Daniel Levy, Georg B Ehret, Kenneth Rice, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association study of blood pressure and hypertension."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.384"}], "href": "https://doi.org/10.1038/ng.384"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19430479"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19430479"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Christopher Newton-Cheh, Toby Johnson, Vesela Gateva, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association study identifies eight loci associated with blood pressure."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.361"}], "href": "https://doi.org/10.1038/ng.361"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19430483"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19430483"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Changmeng Cai, Sen Chen, Patrick Ng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Intratumoral de novo steroid synthesis activates androgen receptor in castration-resistant prostate cancer and is upregulated by treatment with CYP17A1 inhibitors."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Res (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1158/0008-5472.CAN-11-0532"}], "href": "https://doi.org/10.1158/0008-5472.CAN-11-0532"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21868758"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21868758"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Natasha M DeVore, Emily E Scott "}, {"type": "b", "children": [{"type": "t", "text": "Structures of cytochrome P450 17A1 with prostate cancer drugs abiraterone and TOK-001."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nature (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nature10743"}], "href": "https://doi.org/10.1038/nature10743"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22266943"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22266943"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "T Habuchi, Z Liqing, T Suzuki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Increased risk of prostate cancer and benign prostatic hyperplasia associated with a CYP17 gene polymorphism with a gene dosage effect."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Res (2000)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11059764"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11059764"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Minna Heikkilä, Hellevi Peltoketo, Juhani Leppäluoto, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Wnt-4 deficiency alters mouse adrenal cortex function, reducing aldosterone production."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Endocrinology (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1210/en.2002-220275"}], "href": "https://doi.org/10.1210/en.2002-220275"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12399432"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12399432"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Jan M McAllister, Bhavi Modi, Bruce A Miller, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Overexpression of a DENND1A isoform produces a polycystic ovary syndrome theca phenotype."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1400574111"}], "href": "https://doi.org/10.1073/pnas.1400574111"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24706793"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24706793"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Shelley S Tworoger, Jessica Chubak, Erin J Aiello, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association of CYP17, CYP19, CYP1B1, and COMT polymorphisms with serum and urinary sex hormone concentrations in postmenopausal women."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Epidemiol Biomarkers Prev (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1158/1055-9965.epi-03-0026"}], "href": "https://doi.org/10.1158/1055-9965.epi-03-0026"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14744739"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14744739"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Amit V Pandey, Walter L Miller "}, {"type": "b", "children": [{"type": "t", "text": "Regulation of 17,20 lyase activity by cytochrome b5 and by serine phosphorylation of P450c17."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M414673200"}], "href": "https://doi.org/10.1074/jbc.M414673200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15687493"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15687493"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Wiebke Arlt, Elizabeth A Walker, Nicole Draper, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Lancet (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/S0140-6736(04)16503-3"}], "href": "https://doi.org/10.1016/S0140-6736(04"}, {"type": "t", "text": "16503-3) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15220035"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15220035"}]}]}]}
Synonyms	P450C17, S17AH, CPT7, CYP17
Proteins	CP17A_HUMAN
NCBI Gene ID	1586
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

CYP17A1 has 7,400 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 125 datasets.

Click the + buttons to view associations for CYP17A1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

CYP17A1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by CYP17A1 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CYP17A1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of CYP17A1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of CYP17A1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of CYP17A1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of CYP17A1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CYP17A1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of CYP17A1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CYP17A1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CYP17A1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of CYP17A1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of CYP17A1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of CYP17A1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with CYP17A1 gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with CYP17A1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CYP17A1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of CYP17A1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of CYP17A1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with CYP17A1 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with CYP17A1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of CYP17A1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing CYP17A1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing CYP17A1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with CYP17A1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with CYP17A1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with CYP17A1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with CYP17A1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with CYP17A1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with CYP17A1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by CYP17A1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with CYP17A1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with CYP17A1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with CYP17A1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with CYP17A1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with CYP17A1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with CYP17A1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for CYP17A1 protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at CYP17A1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CYP17A1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of CYP17A1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.