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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CYP17A1 Gene

protein-coding GIFtS: 68
GCID: GC10M104580

cytochrome P450, family 17, subfamily A, polypeptide 1

(Previous names: cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase),...)
(Previous symbol: CYP17)

Explore 102 diseases affiliated with
CYP17A1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cytochrome P450, Family 17, Subfamily A, Polypeptide 1¹ ²		Cytochrome P450c17² ³
CYP17¹ ² ³ ⁵		Steroid 17-Alpha-Monooxygenase² ³
S17AH¹ ² ³		CYPXVII² ³
P450C17¹ ² ⁵		EC 1.14.99.9³ ⁸
CPT7¹ ²		Cytochrome P450 XVIIA1²
Cytochrome P450, Subfamily XVII (Steroid 17-Alpha-Hydroxylase), Adrenal Hyperplasia¹ ²		Steroid 17-Alpha-Hydroxylase/17,20 Lyase²
Cytochrome P450 17A1² ³		EC 1.14.99⁸
Cytochrome P450-C17² ³

External Ids:	HGNC: 2593¹	Entrez Gene: 1586²	Ensembl: ENSG00000148795⁷	OMIM: 609300⁵	UniProtKB: P05093³

Export aliases for CYP17A1 gene to outside databases

Previous GC identifers: GC10M103823 GC10M104721 GC10M104254 GC10M098225

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CYP17A1:

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)

UniProtKB/Swiss-Prot: CP17A_HUMAN, P05093

Function: Conversion of pregnenolone and progesterone to their 17-alpha-hydroxylated products and subsequently to

dehydroepiandrosterone (DHEA) and androstenedione. Catalyzes both the 17-alpha-hydroxylation and the 17,20-lyase

reaction. Involved in sexual development during fetal life and at puberty

summary for CYP17A1:

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 and commonly catalyze redox reactions, involving the oxidation of the substrate

and reduction of water. This group of enzymes contain a heme ion within the active site, which is essential

for catalytic activity. CYPs have been found in all organisms tested and are ubiquitously expressed. They

are found at high levels in the liver, where they have an important role in metabolism of drugs and

endogenous toxic compounds (for example bilirubin). Most CYPs can metabolize numerous substrates and this

accounts for their major role in drug interactions. CYPs also have functions in steroid hormone synthesis,

cholesterol synthesis and vitamin D metabolism.

Gene Wiki entry for CYP17A1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000010.10 NC_018921.1 NT_030059.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CYP17A1 gene promoter:
E2F-3a GR C/EBPbeta E2F-1 E2F E2F-2 GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CYP17A1 promoter sequence

Search SABiosciences Chromatin IP Primers for CYP17A1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYP17A1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q24.3 Ensembl cytogenetic band: 10q24.32 HGNC cytogenetic band: 10q24.3

CYP17A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP17A1 gene location

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10M104580: view genomic region (about GC identifiers)

Start:	104,590,288 bp from pter	End:	104,597,290 bp from pter
Size:	7,003 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CP17A_HUMAN, P05093 (See protein sequence)

Recommended Name: Steroid 17-alpha-hydroxylase/17,20 lyase

Size: 508 amino acids; 57371 Da

Cofactor: Heme group

Subcellular location: Membrane (Potential)

3 PDB 3D structures from and Proteopedia for CYP17A1:

2C17 (3D)

3RUK (3D)

3SWZ (3D)

Secondary accessions: Q5TZV7

Explore the universe of human proteins at neXtProt for CYP17A1: NX_P05093

Post-translational modifications:

Phosphorylation is necessary for 17,20-lyase, but not for 17-alpha-hydroxylase activity¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P05093

4/27 DME Specific Peptides for CYP17A1 (P05093) (see all 27)

EAQAEGS

LAYLFWP

DSSIGEF

LKIFPNK

CYP17A1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000093.1

ENSEMBL proteins:

ENSP00000358903

Reactome Protein details: P05093
Human Recombinant Protein Products:

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	Novus Biologicals CYP17A1 Proteins Novus Biologicals CYP17A1 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CYP17A1

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IEA	--
GO:0005783	endoplasmic reticulum	NAS	9326943
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0005792	microsome	--	--
GO:0030424	axon	IEA	--

CYP17A1 for ontologies About GeneDecksing

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	Uscn Antibodies for CYP17A1
	ThermoFisher Antibodies for CYP17A1

Assay Products for CYP17A1:

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	GenScript Custom Assay Services for CYP17A1
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	Uscn ELISAs and CLIAs for CYP17A1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CYP17A1 for domains About GeneDecksing

3 InterPro domains/families:

IPR001128 Cyt_P450

IPR017972 Cyt_P450_CS

IPR002401 Cyt_P450_E_grp-I

Graphical View of Domain Structure for InterPro Entry P05093

ProtoNet protein and cluster: P05093

1 Blocks protein family: IPB002401 E-class P450 group I signature

UniProtKB/Swiss-Prot: CP17A_HUMAN, P05093

Similarity: Belongs to the cytochrome P450 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CP17A_HUMAN, P05093

Function: Conversion of pregnenolone and progesterone to their 17-alpha-hydroxylated products and subsequently to

dehydroepiandrosterone (DHEA) and androstenedione. Catalyzes both the 17-alpha-hydroxylation and the 17,20-lyase

reaction. Involved in sexual development during fetal life and at puberty

Catalytic activity: A steroid + AH(2) + O(2) = a 17-alpha-hydroxysteroid + A + H(2)O

Enzyme regulation: Regulated predominantly by intracellular cAMP levels

Enzyme Numbers (IUBMB): EC 1.14.99.9¹ ² EC 1.14.99²

miRNA Products:		OriGene 3'-UTR Clone: CYP17A1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CYP17A1
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		SwitchGear 3'UTR luciferase reporter plasmid: CYP17A1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CYP17A1 (see all 7) OriGene shRNA RFP: CYP17A1 OriGene siRNA: CYP17A1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CYP17A1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for CYP17A1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector: CYP17A1 (NM_000102)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CYP17A1
		Search LifeMap BioReagents cell lines for CYP17A1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP17A1

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004508	steroid 17-alpha-monooxygenase activity	IEA	--
GO:0005506	iron ion binding	IEA	--
GO:0009055	electron carrier activity	IEA	--
GO:0019825	oxygen binding	TAS	2808364
GO:0020037	heme binding	IEA	--

CYP17A1 for ontologies About GeneDecksing

4 GenomeRNAi human phenotypes for CYP17A1:

Decreased influenza A H1N1 (A/

Decreased influenza A/WSN/33 r

Increased G2M DNA content

Animal Models:
Mouse knock-outs for CYP17A1: Cyp17a1^tm1Vpap Cyp17a1^tm1Mell
4 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Cyp17a1):

behavior/neurological

homeostasis/metabolism

mortality/aging

reproductive system

CYP17A1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cytochrome P450 - arranged by substrate type

	Cytochrome P450 - arranged by substrate type	1.00			cytochrome P450	0.73
	Phase 1 - Functionalization of compounds	0.74

Metabolism

	Metabolism	1.00			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.38

Glucocorticoid biosynthesis

	Glucocorticoid biosynthesis	1.00			Glucocorticoid & Mineralcorticoid Metabolism	0.56
	glucocorticoid biosynthesis	0.67

Estrone metabolism

	Androstenedione and testosterone biosynthesis and metabolism p.1	0.57			Steroid Biosynthesis	0.21
	Androstenedione and testosterone biosynthesis and metabolism p.1	0.57

Androgen biosynthesis

Androgen biosynthesis

1.00

androgen biosynthesis

0.75

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for CYP17A1

Androstenedione and testosterone biosynthesis and metabolism p.1

1 GeneGo (Thomson Reuters) Pathway for CYP17A1

Androstenedione and testosterone biosynthesis and metabolism p.1

5/6 BioSystems Pathways for CYP17A1 (see all 6)

	cytochrome P450
	glucocorticoid biosynthesis
	metapathway biotransformation
	Steroid Biosynthesis
	Glucocorticoid & Mineralcorticoid Metabolism

5/10 Reactome Pathways for CYP17A1 (see all 10)

	Cytochrome P450 - arranged by substrate type
	Metabolism
	Steroid hormones
	Androgen biosynthesis
	Endogenous sterols

2 Kegg Pathways (Kegg details for CYP17A1):

	Steroid hormone biosynthesis
	Metabolic pathways

UniProtKB/Swiss-Prot: CP17A_HUMAN, P05093

Pathway: Lipid metabolism; steroid biosynthesis

CYP17A1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CYP17A1

STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

5/23 Interacting proteins for CYP17A1 (P05093³ ENSP00000358903⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 23)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PPP2R4	Q15257³, ENSP00000351885⁴	I2D: score=1 STRING: ENSP00000351885
CYB5A	P00167³, ENSP00000341625⁴	I2D: score=2 STRING: ENSP00000341625
POR	P16435³	I2D: score=2
AKR1D1	ENSP00000242375⁴	STRING: ENSP00000242375
CGA	ENSP00000358595⁴	STRING: ENSP00000358595

About this table

Gene Ontology (GO): 5/38 biological process terms (GO ID links to tree view) (see all 38): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006082	organic acid metabolic process	--	--
GO:0006694	steroid biosynthetic process	TAS	3500022
GO:0006702	androgen biosynthetic process	TAS	--
GO:0006704	glucocorticoid biosynthetic process	TAS	--
GO:0006805	xenobiotic metabolic process	TAS	--

CYP17A1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CYP17A1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for CYP17A1 available from Tocris Bioscience About this table

Compound	Action	CAS #
Ketoconazole	Cytochrome P450c17 inhibitor	[65277-42-1]

10/18 HMDB Compounds for CYP17A1 (see all 18) About this table

Compound	Synonyms	CAS #	PubMed Ids
Androstenedione	(4)-Androsten-3,17-dione (see all 14)	63-05-8	14504283
11b-Hydroxyprogesterone	11b-Hydroxyprogesterone (see all 7)	600-57-7	--
11beta-Hydroxyprogesterone		--	--
17-Hydroxyprogesterone	17-OHP (see all 15)	68-96-2	--
17a,20a-Dihydroxycholesterol	17alpha,20alpha-Dihydroxycholesterol	--	--
17a-Hydroxypregnenolone	17-Hydroxy-D5-pregnenolone (see all 9)	387-79-1	--
20alpha-Hydroxycholesterol	20alpha-Hydroxycholesterol (see all 4)	516-72-3	--
21-Deoxycortisol	11b,17-dihydroxy-Pregn-4-ene-3,20-dione (see all 10)	641-77-0	--
Acetic acid	Acetate (see all 12)	64-19-7	--
Cyclic AMP	Cyclic AMP (see all 19)	60-92-4	--

7 DrugBank Compounds for CYP17A1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Progesterone	Corpus Luteum Hormone (see all 4)	57-83-0	target	inhibitor	12596217
Progesterone	Corpus Luteum Hormone (see all 4)	57-83-0	enzyme	inhibitor	12596217 19934256
Aldosterone	(+)-aldosterone (see all 18)	52-39-1	enzyme	inducer	19934256
Aminophenazone	4-Dimethylaminoantipyrine (see all 3)	58-15-1	enzyme	substrate	19934256
Dexamethasone	Desametasone (see all 9)	50-02-2	enzyme	inhibitor	19934256
Dihydrotestosterone	(5a,17b)-17-Hydroxyandrostan-3-one (see all 17)	521-18-6	enzyme	substrate	19934256
Metoclopramide	Metaclopramide (see all 9)	364-62-5	enzyme	inhibitor	19934256
NADH	beta-DPNH (see all 18)	606-68-8	target	--	17595315

10/85 Novoseek chemical compound relationships for CYP17A1 gene (see all 85) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
abiraterone acetate	92.3	28	18645193 (3), 19470933 (3), 20159824 (2), 19509232 (2) (see all 13)
3beta-hydroxysteroid	90.8	74	15730543 (2), 8550761 (2), 8943800 (1), 9851802 (1) (see all 68)
17-hydroxypregnenolone	90.3	13	12464253 (1), 12573809 (1), 8396144 (1), 14504283 (1) (see all 12)
dhea	84.9	94	9927319 (4), 10824109 (3), 8943800 (2), 9768686 (2) (see all 46)
17-hydroxyprogesterone	84.8	13	9211124 (2), 12464253 (1), 17386955 (1), 8969926 (1) (see all 11)
steroid	82.9	171	11358812 (3), 11440959 (3), 11036113 (2), 19508587 (2) (see all 99)
androstenedione	82.6	26	14504283 (2), 10919257 (1), 12915666 (1), 9029727 (1) (see all 21)
testosterone	80.2	161	9150706 (3), 19615041 (3), 11117668 (2), 17138841 (2) (see all 99)
16alpha-hydroxyprogesterone	76.9	1	17386955 (1)
17alpha-hydroxysteroid	71.9	1	8943800 (1)

Search CenterWatch for drugs/clinical trials and news about CYP17A1 / CP17A

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CYP17A1 gene:

NM_000102.3

Unigene Cluster for CYP17A1:

Cytochrome P450, family 17, subfamily A, polypeptide 1

Hs.438016 [show with all ESTs]

Unigene Representative Sequence: NM_000102

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000369887(uc001kwg.3) ENST00000490616 ENST00000469683 ENST00000489268

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		GenScript: all cDNA clones in your preferred vector: CYP17A1 (NM_000102)
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CYP17A1

Additional cDNA sequence:

AK289898.1 AK308466.1 AK312235.1 BC032843.1 BC062997.1 BC063388.1 BT020000.1 M14564.1

20 DOTS entries:

DT.95274034 DT.121299833 DT.95274043 DT.95118255 DT.455545 DT.95274036 DT.100793744 DT.75146340

DT.92443848 DT.95280371 DT.100793745 DT.121299706 DT.121299718 DT.121299769 DT.87014926 DT.92443849

DT.92443850 DT.92443853 DT.91810671 DT.91957907

24/166 AceView cDNA sequences (see all 166):

AV710102 AV706133 AV710594 AV706727 AV708250 AA349302 BX279660 AV706512

BI520509 BX508739 AA340899 AV711286 AV704387 AA340586 AV711044 AV711168

AV708366 BM559917 AV711503 AA349170 AV708626 BC063388 AV710929 AA340749

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for CYP17A1 (see all 7) About this scheme

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:																							-		-

ECgene alternative splicing isoforms for CYP17A1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CYP17A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCTGGCTGC

About this image

CYP17A1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Ovary

Testis

Secondary Spermatocyte

Germ Cells, Male Gametocytes

Testis

Testis Interstitium

Testis

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Mature follicles (In-vitro growth and ...)

See CYP17A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CYP17A1

SOURCE GeneReport for Unigene cluster: Hs.438016

SABiosciences Expression via Pathway-Focused PCR Arrays including CYP17A1:

Drug Metabolism: Phase I Enzymes in human mouse rat

Cellular Stress Responses in human mouse rat

Drug Metabolism in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for CYP17A1 gene from 7/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	F1NYI7_CHICK⁶	cytochrome P450, family 17, subfamily A, polypepti...	46(a)	1 ↔ 1	6(24817997-24820474)
lizard (Anolis carolinensis)	Reptilia	CYP17A1⁶	--	46(a)	1 ↔ 1	3(40249488-40259780)
African clawed frog (Xenopus laevis)	Amphibia	Xl.725²	Xenopus laevis cytochrome P450 steroid 17-alpha-hydroxylase/17,2 more	72.39(n)		AF325435.1
zebrafish (Danio rerio)	Actinopterygii	cyp17a1⁶ cyp17a2⁶	cytochrome P450, family 17, subfamily A, polypepti... cytochrome P450, family 17, subfamily A, polypepti...	47(a) 42(a)	1 ↔ 1 possible ortholog	13(28824797-28834567) 23(45948521-45985841)
fruit fly (Drosophila melanogaster)	Insecta	spok⁶ spo⁶ (see all 5)	spook (see all 5)	22(a) 22(a) (see all 5)	possible ortholog possible ortholog (see all 5)	3RHet(2127184-2158789) 3L(5583183-5585369)
thale cress (Arabidopsis thaliana)	eudicotyledons	CYP706A2¹	cytochrome P450, family 706, subfamily A, polypeptide more	43.82(n) 29.24(a)		828367 NM_118397.3 NP_194002.1
rice (Oryza sativa)	Liliopsida	Os01g0700500¹	hypothetical protein	44.09(n) 29.39(a)		4326925 NM_001050520.1 NP_001043985.2

ENSEMBL Gene Tree for CYP17A1 (if available)
TreeFam Gene Tree for CYP17A1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for CYP17A1 gene

CYP1B1² CYP1A2² CYP1A1² CYP2G1P² CYP21A2² ENSG00000198251²

18/23 SIMAP similar genes for CYP17A1 using alignment to 3 protein entries: CP17A_HUMAN (see all proteins) (see all similar genes):

CYP2A6 CYP2A7 CYP2B7 CYP1A2 CYP2A13 CYP2A6V2

CYP2J2 CYP2R1 CYP2C19 CYP2E1 CYP2F1 CYP1A1

CYP1B1 CYP21 CYP2B6 CYP2C18 CYP2C9 P450-CYP21B

CYP17A1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894141^1,2	C	pathogenic	139031523(-)	`TTTTGA/GCCCAA`	2	* W	stg¹		0	--	--	--	--
rs104894152^1,2	C	pathogenic	139031553(-)	`AAGTAA/CCCCAA`	2	* Y	stg¹		0	--	--	--	--
rs104894146^1,2	C	pathogenic	139031750(-)	`GGACTG/TCTCTG`	2	C F	mis¹		0	--	--	--	--
rs104894138^1,2	C	pathogenic	139031758(-)	`CTGGGC/TGGCCT`	2	R W	mis¹		0	--	--	--	--
rs104894153^1,2	C	pathogenic	139031759(-)	`TGGGCA/GGCCTC`	2	Q R	mis¹		0	--	--	--	--
rs104894148^1,2	C	pathogenic	139033490(-)	`CGCTGA/TCTCTG`	2	D V	mis¹		0	--	--	--	--
rs104894150^1,2	C	pathogenic	139033983(-)	`AGAATA/TACAAT`	3	N Y	ds500¹ mis¹		0	--	--	--	--
rs104894136^1,2	C	pathogenic	139034759(-)	`AAATAC/TGAAAT`	3	R *	stg¹ int¹		0	--	--	--	--
rs104894144^1,2	C,	pathogenic	139036168(-)	`AGCTCA/G/TACGAG`	4	N D Y	mis¹ spa¹		0	--	--	--	--
rs104894149^1,2	C	pathogenic	139036222(-)	`GTGACC/TGTAAC`	3	R C	mis¹ int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CYP17A1 (104590288 - 104597290 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CYP17A1: --
Human Gene Mutation Database (HGMD): CYP17A1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CYP17A1 for disorders           About GeneDecksing

OMIM gene information: 609300
OMIM disorders: 202110
UniProtKB/Swiss-Prot: CP17A_HUMAN, P05093

Defects in CYP17A1 are the cause of adrenal hyperplasia type 5 (AH5) [MIM:202110]. AH5 is 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)

20/102 diseases for CYP17A1 (see all 102): About MalaCards

17-alpha-hydroxylase/17,20-lyase deficiency 17-alpha-hydroxylase deficiency adrenal hyperplasia 17,20-lyase deficiency, isolated

3-beta-hydroxysteroid dehydrogenase deficiency pseudohermaphroditism antley-bixler syndrome sertoli-leydig cell tumor

leydig cell tumor cholesterol patent ductus arteriosus polycystic ovary syndrome

testicular germ cell tumor intrahepatic cholestasis non-hodgkin lymphoma micropenis

type 2 diabetes mellitus disordered steroidogenesis delayed puberty intrahepatic cholestasis of pregnancy

3 diseases from the University of Copenhagen DISEASES database for CYP17A1:

Hypokalemia Prostate cancer Antley-Bixler syndrome

10/59 Novoseek disease relationships for CYP17A1 gene (see all 59) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
infantilism sexual	92.9	9	16483711 (1), 17379008 (1), 18832096 (1), 12701064 (1) (see all 7)
antley-bixler syndrome	81.6	1	15483095 (1)
adrenal hyperplasia congenital	78.9	19	17379008 (3), 19499410 (1), 19508587 (1), 17505056 (1) (see all 14)
polycystic ovary syndrome	77.2	25	19013303 (2), 15482786 (2), 10065777 (2), 7479852 (2) (see all 19)
adenoma adrenocortical	73.4	13	1835446 (3), 1820978 (2), 9851803 (2), 11857908 (2) (see all 8)
hyperandrogenism	72.8	14	11095477 (4), 9704303 (2), 8773744 (1), 9135692 (1) (see all 8)
carcinoma adrenocortical	69.8	3	11869873 (1), 16828825 (1), 18022659 (1)
primary amenorrhea	67.5	4	12701064 (1), 18422032 (1), 19728179 (1), 19169487 (1)
pseudohermaphroditism male	66	2	16483711 (1), 1621662 (1)
hypokalemia	65.7	6	16483711 (1), 17379008 (1), 14715827 (1), 14671162 (1) (see all 5)

Genetic Association Database (GAD): CYP17A1
Human Genome Epidemiology (HuGE) Navigator: CYP17A1 (272 documents)

Export disorders for CYP17A1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for CYP17A1 gene, integrated from 9 sources (see all 862):
(articles sorted by number of sources associating them with CYP17A1)

Utopia: connect your pdf to the dynamic
world of online information

CYP17 polymorphisms in relation to risks of prostate cancer and benign prostatic hyperplasia: a population-based study in China. (PubMed id 12949806)^{1, 4, 9} Madigan M.P....Hsing A.W. (2003)
Increased risk of prostate cancer and benign prostatic hyperplasia associated with a CYP17 gene polymorphism with a gene dosage effect. (PubMed id 11059764)^{1, 4, 9} Habuchi T....Kato T. (2000)
A polymorphism in CYP17 and endometrial cancer risk. (PubMed id 11358812)^{1, 4, 9} Haiman C.A....De Vivo I. (2001)
CYP17 genetic polymorphism, breast cancer, and breast cancer risk factors. (PubMed id 12631398)^{1, 4, 9} Ambrosone C.B....Shields P.G. (2003)
Association of the CYP17 gene polymorphism with the risk of prostate cancer: a meta-analysis. (PubMed id 12582021)^{1, 4, 9} Ntais C....Ioannidis J.P. (2003)
CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding. (PubMed id 14504283)^{1, 6, 9} Sherbet D.P....Auchus R.J. (2003)
Combined 17alpha-hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene. (PubMed id 11836339)^{1, 2, 9} Di Cerbo A.... Savoia A. (2002)
The risk of breast cancer associated with dietary lignans differs by CYP17 genotype in women. (PubMed id 12368392)^{1, 4, 9} McCann S.E....Shields P.G. (2002)
The relationship between a polymorphism in CYP17 with plasma hormone levels and prostate cancer. (PubMed id 11440959)^{1, 4, 9} Haiman C.A....Hunter D.J. (2001)
Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency. (PubMed id 11549685)^{1, 2, 9} Gupta M.K.... Auchus R.J. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 1586	HGNC: 2593	AceView: CYP17A1	Ensembl:ENSG00000148795	euGenes: HUgn1586
ECgene: CYP17A1	Kegg: 1586	H-InvDB: CYP17A1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CYP17A1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CYP17A1	Genetics and Cytogenetics in Oncology and Haematology
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=CYP17A1
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYP17A1

Intellectual Property for CYP17A1 gene
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Patent Information for CYP17A1 gene:
Search GeneIP for patents involving CYP17A1

GeneCards and IP:
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CYP17A1 Gene

cytochrome P450, family 17, subfamily A, polypeptide 1

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Primary Amenorrhea
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CYP17A1 Gene

cytochrome P450, family 17, subfamily A, polypeptide 1

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