• Gene id: 1586

Gene Summary

• Gene Symbol: CYP17A1   Gene   UCSC   Ensembl
• Aliases: CPT7, CYP17, P450C17, S17AH
• Gene name: cytochrome P450 family 17 subfamily A member 1
• Alternate names: steroid 17-alpha-hydroxylase/17,20 lyase, 17-alpha-hydroxyprogesterone aldolase, CYPXVII, cytochrome P450 17A1, cytochrome P450, family 17, subfamily A, polypeptide 1, cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia, cy,
• Gene location: 10q24.32 (102837532: 102830530)     Exons: 8     NC_000010.11
• Gene summary(Entrez): 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 local
• OMIM: 609300

SNPs

rs17115149

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.102837961G>A
NC_000010.11   g.102837961G>T
NC_000010.10   g.104597718G>A
NC_000010.10   g.104597718G>T
NG_007955.1   g.4573C>T
NG_007955.1   g.4573C>A
NG_055002.1   g.689G>A
NG_055002.1   g.689G>T|SEQ=[G/A/T]|GENE=CYP17A1

rs4919686

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.102832492A>C
NC_000010.10   g.104592249A>C
NG_007955.1   g.10042T>G|SEQ=[A/C]|GENE=CYP17A1
CYP17A1-AS1   102724307

Protein Summary

• Protein general information: P05093  
  • Name: Steroid 17 alpha hydroxylase/17,20 lyase (EC 1.14.14.19) (17 alpha hydroxyprogesterone aldolase) (EC 1.14.14.32) (CYPXVII) (Cytochrome P450 17A1) (Cytochrome P450 C17) (Cytochrome P450c17) (Steroid 17 alpha monooxygenase)
  • Length: 508  
  • Mass: 57,371
• Sequence:

  MWELVALLLLTLAYLFWPKRRCPGAKYPKSLLSLPLVGSLPFLPRHGHMHNNFFKLQKKYGPIYSVRMGTKTTVI
  VGHHQLAKEVLIKKGKDFSGRPQMATLDIASNNRKGIAFADSGAHWQLHRRLAMATFALFKDGDQKLEKIICQEI
  STLCDMLATHNGQSIDISFPVFVAVTNVISLICFNTSYKNGDPELNVIQNYNEGIIDNLSKDSLVDLVPWLKIFP
  NKTLEKLKSHVKIRNDLLNKILENYKEKFRSDSITNMLDTLMQAKMNSDNGNAGPDQDSELLSDNHILTTIGDIF
  GAGVETTTSVVKWTLAFLLHNPQVKKKLYEEIDQNVGFSRTPTISDRNRLLLLEATIREVLRLRPVAPMLIPHKA
  NVDSSIGEFAVDKGTEVIINLWALHHNEKEWHQPDQFMPERFLNPAGTQLISPSVSYLPFGAGPRSCIGEILARQ
  ELFLIMAWLLQRFDLEVPDDGQLPSLEGIPKVVFLIDSFKVKIKVRQAWREAQAEGST

• Structural information:
  • Interpro: IPR001128  IPR017972  IPR002401  IPR036396  
  • Prosite: PS00086
  • PDB: 2C17 3RUK 3SWZ 4NKV 4NKW 4NKX 4NKY 4NKZ 5IRQ 5IRV
  • PDBsum: 2C17 3RUK 3SWZ 4NKV 4NKW 4NKX 4NKY 4NKZ 5IRQ 5IRV
  • STRING: ENSP00000358903
• Other Databases: GeneCards:  CYP17A1  Malacards:  CYP17A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004508	steroid 17-alpha-monooxygenase activity	IMP	molecular function
GO:0004508	steroid 17-alpha-monooxygenase activity	IDA	molecular function
GO:0004508	steroid 17-alpha-monooxygenase activity	IMP	molecular function
GO:0004508	steroid 17-alpha-monooxygenase activity	TAS	molecular function
GO:0004508	steroid 17-alpha-monooxygenase activity	TAS	molecular function
GO:0004508	steroid 17-alpha-monooxygenase activity	TAS	molecular function
GO:0004508	steroid 17-alpha-monooxygenase activity	TAS	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005783	endoplasmic reticulum	NAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006694	steroid biosynthetic process	TAS	biological process
GO:0006702	androgen biosynthetic process	TAS	biological process
GO:0006704	glucocorticoid biosynthetic process	TAS	biological process
GO:0007548	sex differentiation	TAS	biological process
GO:0008202	steroid metabolic process	IDA	biological process
GO:0009635	response to herbicide	IEA	biological process
GO:0010034	response to acetate	IEA	biological process
GO:0010212	response to ionizing radiation	IEA	biological process
GO:0016125	sterol metabolic process	TAS	biological process
GO:0017085	response to insecticide	IEA	biological process
GO:0018879	biphenyl metabolic process	IEA	biological process
GO:0018894	dibenzo-p-dioxin metabolic process	IEA	biological process
GO:0018958	phenol-containing compound metabolic process	IEA	biological process
GO:0018963	phthalate metabolic process	IEA	biological process
GO:0019825	oxygen binding	TAS	molecular function
GO:0020037	heme binding	IDA	molecular function
GO:0021766	hippocampus development	IEA	biological process
GO:0030325	adrenal gland development	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0030728	ovulation	IEA	biological process
GO:0031667	response to nutrient levels	IEA	biological process
GO:0032526	response to retinoic acid	IEA	biological process
GO:0033327	Leydig cell differentiation	IEA	biological process
GO:0034097	response to cytokine	IEA	biological process
GO:0042446	hormone biosynthetic process	IDA	biological process
GO:0042448	progesterone metabolic process	IDA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0047442	17-alpha-hydroxyprogesterone aldolase activity	IMP	molecular function
GO:0048545	response to steroid hormone	IEA	biological process
GO:0051591	response to cAMP	IEA	biological process
GO:0051597	response to methylmercury	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0060992	response to fungicide	IEA	biological process
GO:0071222	cellular response to lipopolysaccharide	IEA	biological process
GO:0071236	cellular response to antibiotic	IEA	biological process
GO:0071371	cellular response to gonadotropin stimulus	IEA	biological process
GO:0090031	positive regulation of steroid hormone biosynthetic process	IEA	biological process
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0004508	steroid 17-alpha-monooxygenase activity	IEA	molecular function
GO:0004508	steroid 17-alpha-monooxygenase activity	IEA	molecular function
GO:0004508	steroid 17-alpha-monooxygenase activity	TAS	molecular function
GO:0004508	steroid 17-alpha-monooxygenase activity	IMP	molecular function
GO:0004508	steroid 17-alpha-monooxygenase activity	IDA	molecular function
GO:0004508	steroid 17-alpha-monooxygenase activity	IMP	molecular function
GO:0004508	steroid 17-alpha-monooxygenase activity	TAS	molecular function
GO:0004508	steroid 17-alpha-monooxygenase activity	TAS	molecular function
GO:0004508	steroid 17-alpha-monooxygenase activity	TAS	molecular function
GO:0004508	steroid 17-alpha-monooxygenase activity	TAS	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	NAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006082	organic acid metabolic process	IEA	biological process
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0006694	steroid biosynthetic process	TAS	biological process
GO:0006702	androgen biosynthetic process	TAS	biological process
GO:0006704	glucocorticoid biosynthetic process	IEA	biological process
GO:0006704	glucocorticoid biosynthetic process	TAS	biological process
GO:0007548	sex differentiation	IEA	biological process
GO:0007548	sex differentiation	TAS	biological process
GO:0008202	steroid metabolic process	IDA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0009635	response to herbicide	IEA	biological process
GO:0009636	response to toxic substance	IEA	biological process
GO:0010033	response to organic substance	IEA	biological process
GO:0010034	response to acetate	IEA	biological process
GO:0010212	response to ionizing radiation	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016125	sterol metabolic process	TAS	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0017085	response to insecticide	IEA	biological process
GO:0018879	biphenyl metabolic process	IEA	biological process
GO:0018894	dibenzo-p-dioxin metabolic process	IEA	biological process
GO:0018958	phenol-containing compound metabolic process	IEA	biological process
GO:0018963	phthalate metabolic process	IEA	biological process
GO:0019825	oxygen binding	TAS	molecular function
GO:0020037	heme binding	IEA	molecular function
GO:0020037	heme binding	IDA	molecular function
GO:0021766	hippocampus development	IEA	biological process
GO:0030325	adrenal gland development	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0030728	ovulation	IEA	biological process
GO:0031667	response to nutrient levels	IEA	biological process
GO:0032526	response to retinoic acid	IEA	biological process
GO:0033327	Leydig cell differentiation	IEA	biological process
GO:0034097	response to cytokine	IEA	biological process
GO:0034698	response to gonadotropin	IEA	biological process
GO:0042446	hormone biosynthetic process	IDA	biological process
GO:0042448	progesterone metabolic process	IDA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0047442	17-alpha-hydroxyprogesterone aldolase activity	IEA	molecular function
GO:0047442	17-alpha-hydroxyprogesterone aldolase activity	IEA	molecular function
GO:0047442	17-alpha-hydroxyprogesterone aldolase activity	IMP	molecular function
GO:0048545	response to steroid hormone	IEA	biological process
GO:0051591	response to cAMP	IEA	biological process
GO:0051597	response to methylmercury	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0060992	response to fungicide	IEA	biological process
GO:0071222	cellular response to lipopolysaccharide	IEA	biological process
GO:0071236	cellular response to antibiotic	IEA	biological process
GO:0071371	cellular response to gonadotropin stimulus	IEA	biological process
GO:0090031	positive regulation of steroid hormone biosynthetic process	IEA	biological process
GO:0004508	steroid 17-alpha-monooxygenase activity	TAS	molecular function
GO:0004508	steroid 17-alpha-monooxygenase activity	IMP	molecular function
GO:0004508	steroid 17-alpha-monooxygenase activity	IDA	molecular function
GO:0004508	steroid 17-alpha-monooxygenase activity	IMP	molecular function
GO:0004508	steroid 17-alpha-monooxygenase activity	TAS	molecular function
GO:0004508	steroid 17-alpha-monooxygenase activity	TAS	molecular function
GO:0004508	steroid 17-alpha-monooxygenase activity	TAS	molecular function
GO:0004508	steroid 17-alpha-monooxygenase activity	TAS	molecular function
GO:0005783	endoplasmic reticulum	NAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006694	steroid biosynthetic process	TAS	biological process
GO:0006702	androgen biosynthetic process	TAS	biological process
GO:0006704	glucocorticoid biosynthetic process	TAS	biological process
GO:0007548	sex differentiation	TAS	biological process
GO:0008202	steroid metabolic process	IDA	biological process
GO:0016125	sterol metabolic process	TAS	biological process
GO:0019825	oxygen binding	TAS	molecular function
GO:0020037	heme binding	IDA	molecular function
GO:0042446	hormone biosynthetic process	IDA	biological process
GO:0042448	progesterone metabolic process	IDA	biological process
GO:0047442	17-alpha-hydroxyprogesterone aldolase activity	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04913	Ovarian steroidogenesis
hsa04917	Prolactin signaling pathway
hsa04927	Cortisol synthesis and secretion
hsa04934	Cushing syndrome

Diseases

Associated diseases	References
Cancer (leiomyoma)	GAD: 20171624
Cancer (liver)	GAD: 15341023
Cancer (lung)	GAD: 18593984
Cancer	GAD: 18415690
Cancer (Adenocarcinoma)	GAD: 18491956
Cancer (bladder)	GAD: 19692168
Cancer (colorectal)	GAD: 16202920
Cancer (endometrial)	GAD: 11221867
Cancer (epithelial ovarian)	GAD: 19064572
Cancer (esophageal)	GAD: 20453000
Cancer (hepatocellular)	GAD: 19064581
Cancer (lymphoma)	GAD: 15916684
Cancer (oral)	GAD: 15799583
Cancer (ovarian)	GAD: 12036914
Cancer (pancreatic ductal)	GAD: 19642097
Cancer (prostate)	GAD: 11847524
Cancer (stomach)	GAD: 19015200
Cancer (testicular)	GAD: 19627379
Cancer (uterine leiomyoma)	GAD: 16595228
Cancer (breast)	GAD: 12584742
Atherosclerosis	GAD: 16045239
Cardiovascular disease	GAD: 16045239
Hypertension	GAD: 19430479
Brain ischemia	GAD: 19023099
Cardiovascular disease	GAD: 17975119
Intrauterine growth retardation	GAD: 14665706
P450c17 deficiency	INFBASE: 14671162
Hyperandrogenism	GAD: 18499961
Liver disease	GAD: 15706422
Cholelithiasis	GAD: 16909599
Rheumatoid arthritis	GAD: 15235815
Systemic lupus erythematosus (SLE)	GAD: 9588749
Insulin resistance	GAD: 19013303
Obesity	GAD: 20734064
Osteoporosis	GAD: 14715870
Spondylarthropathies	GAD: 15372520
Bone diseases	GAD: 15953542
Tardive dyskinesia	GAD: 11839369
Alzheimer's disease	GAD: 19141999
Autism	GAD: 19598235
Chronic renal failure	GAD: 21085059
Endometriosis	GAD: 16260521
Human spermatogenic defect	GAD: 18980759
Polycystic ovary syndrome (PCOS)	GAD: 18499961
Ovarian diseases	GAD: 18930188
Preeclampsia	GAD: 20729792
Recurrent pregnancy loss (RPL)	GAD: 14561815
Spermatogenesis defects	GAD: 18980759
17 alpha-hydroxylase deficiency	INFBASE: 9250356
Female infertility	INFBASE: 25765894
Adenomyosis	INFBASE: 16527884
Polycystic ovary syndrome (PCOS)	INFBASE: 7849715
Primary amenorrhea	INFBASE: 18422032
Congenital adrenal hyperplasia	INFBASE: 19728179
Endometriosis-associated infertility	INFBASE: 23809139
Hypergonadotropic hypogonadism	INFBASE: 6308936
Primary amenorrhea	INFBASE: 25613935
Sexual infantilism	INFBASE: 16772352
Congenital adrenal hyperplasia	KEGG: H00216
Cryptorchidism	MIK: 22648180
Male factor infertility	MIK: 22648180
Male factor infertility	MIK: 24140493
Azoospermia	MIK: 18980759
Oligozoospermia	MIK: 18980759
Spermatogenesis defects	MIK: 18980759
Male pseudohermaphroditism	MIK: 7889174
Male factor infertility	MIK: 24140493
Hypospadias	MIK: 22648180
Female infertility	INFBASE: 9135693
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Uterine fibroids	GAD: 14995917
17 alpha-hydroxylase deficiency	MIK: 11243732
Amenorrhea	MIK: 22087567
Congenital adrenal hyperplasia	MIK: 19454579
Cryptorchidism	MIK: 22648180
Hypospadias	MIK: 22648180
Essential for sperm function	MIK: 15890676
Hypospermatogenesis	MIK: 28361989
Leydig cell dysfunction	MIK: 29438521
Sertoli cell-only syndrome	MIK: 29438521
Male infertility	MIK: 24140493
Oligozoospermia	MIK: 18980759
Azoospermia	MIK: 18980759
Spermatogenesis defects	MIK: 18980759

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24140493	Male infertility	CYP17A1 promoter single nucleotide polymorphism (-600 C>A, rs17115149)		921 (456 infertile men, 465 normal fertile men)	Male infertility
25629114	Male infertility	(-600 C>A)			Male infertility
22648180	Cryptorchidism(CO), hypospadias (HS)	ARNT2 (rs2278705, rs1020397, rs5000770), CYP1A2 (rs2069521), CYP17A1 (rs4919686) and NR1I2 (rs2472680), AHR (rs3757824)	Japanes e, Ital ian	521 (334 Japanese (JPN) males (141 controls, 95 CO and 98 HS), 187 Italian (ITA) males (129 controls and 58 CO))	Male infertility	AHR AHRR ARNT ARNT2 NR1I2 RXRA RXRB RXRG CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP3A4  CYP17A1 and CYP19A1
22087567	17?-hydroxylase deficiency, amenorrhea	(P409R) was detected in exon 7, 9-bp deletion (D487-S488-F489del)	Chinese	46,XY and 46,XX Chinese siblings with 17?-hydroxylase deficiency	Male infertility, Female infertility
19454579	Congenital adrenal hyperplasia	A174E, V178D, R440C and L465P		246,XY disordered sex development, 1 46,XX presented with primary amenorrhea and hypertension	Male infertility, Female infertility
17379008	Congenitaladrenal hyperplasia	Exon 6 (CGC-->TGC) that resulted in the substitution of arginine by cysteine at codon 362, in exon 7 (CCG-->CGG) that resulted in the substitution of proline by arginine at codon 409	Taiwan, Chines e	51 (1 genotypic male with P450c17 deficiency, 50 Chinese subjects without P450c17 deficiency)	Male infertility
11243732	17 alpha-hydroxylase deficiency	g.6333--6341delGACTCTTTCA, g.5582C>G, located in exon 7, P409R	Chinese , Thai	1 patient with 17 alpha-hydroxylase deficiency, male pseudohermaphroditism	Male infertility
18980759	Oligozoospermia, azoospermia, impaired spermatogenesis	(rs180113 of ER-alpha gene, rs1256049 of ER-beta gene, rs1048943 of CYP1A1 gene, rs8191246 of HSD17B2 gene, and rs1799941 along with rs6259 of SHBG gene	Taiwane se Han	303 (183 oligozoospermatic (sperm count <20 x 10(6)/mL) or azoospermatic males, 120 fertile control males)	Male infertility	ER-alpha ER-beta CYP17 CYP19A1 HSD17B2 CYP1A1 CYP1B1 COMT SHBG
29438521	Leydig cell dysfunction, Sertoli cell-only syndrome, Male infertility				Male infertility
15890676	Essential for sperm function				Male infertility
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray