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Gene id

1586

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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, cytochro,

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 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]

OMIM

609300

SNPs

rs743572

Strand: +   Allele origin: unknown  Allele change: A/G/T   Mutation type: snp


NC_000010.10   g.104597152A>G
NC_000010.11   g.102837395A>G
NC_000010.11   g.102837395A>T
NG_007955.1   g.5139T>A
NG_007955.1   g.5139T>C
NM_000102.3   c.-34T>A
NM_000102.3   c.-34T>C
Clinical Significance: Benign

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
Prosite:	PS00086
Pfam:	PF00067
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-monooxyg enase activity	IMP	molecular_function
GO:0004508	steroid 17-alpha-monooxyg enase activity	IDA	molecular_function
GO:0004508	steroid 17-alpha-monooxyg enase activity	IMP	molecular_function
GO:0004508	steroid 17-alpha-monooxyg enase activity	TAS	molecular_function
GO:0004508	steroid 17-alpha-monooxyg enase activity	TAS	molecular_function
GO:0004508	steroid 17-alpha-monooxyg enase activity	TAS	molecular_function
GO:0004508	steroid 17-alpha-monooxyg enase 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 mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0006694	steroid biosynthetic proc ess	TAS	biological_process
GO:0006702	androgen biosynthetic pro cess	TAS	biological_process
GO:0006704	glucocorticoid biosynthet ic 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 radi ation	IEA	biological_process
GO:0016125	sterol metabolic process	TAS	biological_process
GO:0017085	response to insecticide	IEA	biological_process
GO:0018879	biphenyl metabolic proces s	IEA	biological_process
GO:0018894	dibenzo-p-dioxin metaboli c process	IEA	biological_process
GO:0018958	phenol-containing compoun d metabolic process	IEA	biological_process
GO:0018963	phthalate metabolic proce ss	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 leve ls	IEA	biological_process
GO:0032526	response to retinoic acid	IEA	biological_process
GO:0033327	Leydig cell differentiati on	IEA	biological_process
GO:0034097	response to cytokine	IEA	biological_process
GO:0042446	hormone biosynthetic proc ess	IDA	biological_process
GO:0042448	progesterone metabolic pr ocess	IDA	biological_process
GO:0042493	response to drug	IEA	biological_process
GO:0043025	neuronal cell body	IEA	cellular_component
GO:0047442	17-alpha-hydroxyprogester one aldolase activity	IMP	molecular_function
GO:0048545	response to steroid hormo ne	IEA	biological_process
GO:0051591	response to cAMP	IEA	biological_process
GO:0051597	response to methylmercury	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0060992	response to fungicide	IEA	biological_process
GO:0071222	cellular response to lipo polysaccharide	IEA	biological_process
GO:0071236	cellular response to anti biotic	IEA	biological_process
GO:0071371	cellular response to gona dotropin stimulus	IEA	biological_process
GO:0090031	positive regulation of st eroid hormone biosyntheti c process	IEA	biological_process
GO:0004497	monooxygenase activity	IEA	molecular_function
GO:0004508	steroid 17-alpha-monooxyg enase activity	IEA	molecular_function
GO:0004508	steroid 17-alpha-monooxyg enase activity	IEA	molecular_function
GO:0004508	steroid 17-alpha-monooxyg enase activity	TAS	molecular_function
GO:0004508	steroid 17-alpha-monooxyg enase activity	IMP	molecular_function
GO:0004508	steroid 17-alpha-monooxyg enase activity	IDA	molecular_function
GO:0004508	steroid 17-alpha-monooxyg enase activity	IMP	molecular_function
GO:0004508	steroid 17-alpha-monooxyg enase activity	TAS	molecular_function
GO:0004508	steroid 17-alpha-monooxyg enase activity	TAS	molecular_function
GO:0004508	steroid 17-alpha-monooxyg enase activity	TAS	molecular_function
GO:0004508	steroid 17-alpha-monooxyg enase 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 mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0006082	organic acid metabolic pr ocess	IEA	biological_process
GO:0006694	steroid biosynthetic proc ess	IEA	biological_process
GO:0006694	steroid biosynthetic proc ess	IEA	biological_process
GO:0006694	steroid biosynthetic proc ess	IEA	biological_process
GO:0006694	steroid biosynthetic proc ess	IEA	biological_process
GO:0006694	steroid biosynthetic proc ess	TAS	biological_process
GO:0006702	androgen biosynthetic pro cess	TAS	biological_process
GO:0006704	glucocorticoid biosynthet ic process	IEA	biological_process
GO:0006704	glucocorticoid biosynthet ic 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 substan ce	IEA	biological_process
GO:0010033	response to organic subst ance	IEA	biological_process
GO:0010034	response to acetate	IEA	biological_process
GO:0010212	response to ionizing radi ation	IEA	biological_process
GO:0014070	response to organic cycli c 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 red uction of molecular oxyge n	IEA	molecular_function
GO:0016829	lyase activity	IEA	molecular_function
GO:0017085	response to insecticide	IEA	biological_process
GO:0018879	biphenyl metabolic proces s	IEA	biological_process
GO:0018894	dibenzo-p-dioxin metaboli c process	IEA	biological_process
GO:0018958	phenol-containing compoun d metabolic process	IEA	biological_process
GO:0018963	phthalate metabolic proce ss	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 leve ls	IEA	biological_process
GO:0032526	response to retinoic acid	IEA	biological_process
GO:0033327	Leydig cell differentiati on	IEA	biological_process
GO:0034097	response to cytokine	IEA	biological_process
GO:0034698	response to gonadotropin	IEA	biological_process
GO:0042446	hormone biosynthetic proc ess	IDA	biological_process
GO:0042448	progesterone metabolic pr ocess	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-bo unded organelle	IEA	cellular_component
GO:0046872	metal ion binding	IEA	molecular_function
GO:0047442	17-alpha-hydroxyprogester one aldolase activity	IEA	molecular_function
GO:0047442	17-alpha-hydroxyprogester one aldolase activity	IEA	molecular_function
GO:0047442	17-alpha-hydroxyprogester one aldolase activity	IMP	molecular_function
GO:0048545	response to steroid hormo ne	IEA	biological_process
GO:0051591	response to cAMP	IEA	biological_process
GO:0051597	response to methylmercury	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0060992	response to fungicide	IEA	biological_process
GO:0071222	cellular response to lipo polysaccharide	IEA	biological_process
GO:0071236	cellular response to anti biotic	IEA	biological_process
GO:0071371	cellular response to gona dotropin stimulus	IEA	biological_process
GO:0090031	positive regulation of st eroid hormone biosyntheti c process	IEA	biological_process
GO:0004508	steroid 17-alpha-monooxyg enase activity	TAS	molecular_function
GO:0004508	steroid 17-alpha-monooxyg enase activity	IMP	molecular_function
GO:0004508	steroid 17-alpha-monooxyg enase activity	IDA	molecular_function
GO:0004508	steroid 17-alpha-monooxyg enase activity	IMP	molecular_function
GO:0004508	steroid 17-alpha-monooxyg enase activity	TAS	molecular_function
GO:0004508	steroid 17-alpha-monooxyg enase activity	TAS	molecular_function
GO:0004508	steroid 17-alpha-monooxyg enase activity	TAS	molecular_function
GO:0004508	steroid 17-alpha-monooxyg enase activity	TAS	molecular_function
GO:0005783	endoplasmic reticulum	NAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0006694	steroid biosynthetic proc ess	TAS	biological_process
GO:0006702	androgen biosynthetic pro cess	TAS	biological_process
GO:0006704	glucocorticoid biosynthet ic 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 proc ess	IDA	biological_process
GO:0042448	progesterone metabolic pr ocess	IDA	biological_process
GO:0047442	17-alpha-hydroxyprogester one aldolase activity	IMP	molecular_function

KEGG pathways

hsa01100  Metabolic pathways
hsa04917  Prolactin signaling pathway
hsa00140  Steroid hormone biosynthesis
hsa04913  Ovarian steroidogenesis

Diseases

Associated diseases	References
17 alpha-hydroxylase deficiency	PMID: 16483711
17,20-lyase deficiency	PMID: 23772786
17 alpha-hydroxylase deficiency	PMID: 25765894
Adenomyosis	PMID: 16527884
Alzheimer's disease	PMID: 15591802
Atherosclerosis	PMID: 16045239
Autism	PMID: 19598235
Cholestasis	PMID: 16909599
Chronic obstructive pulmonary disease (COPD)	PMID: 19625176
Congenital adrenal insufficiency	PMID: 19636199, KEGG: H00216
Cryptorchidism	PMID: 22648180
Endometriosis	PMID: 16260521
Hyperandrogenism	PMID: 18499961
Hyperandrogenism	PMID: 18725155
Hypergonadotropic hypogonadism	PMID: 6308936
Hypospadias	PMID: 22648180
Infantile genitalia	PMID: 11422109
Liver disease	PMID: 15706422
Male infertility	PMID: 24140493
Male pseudohermaphroditism (MPH)	PMID: 7889174
Oligozoospermia	PMID: 18980759
Osteoporosis	PMID: 14715870
Parkinson's disease	PMID: 19915575
Polycystic ovary syndrome (PCOS)	PMID: 11379008
Polycystic ovary syndrome (PCOS)	PMID: 18636181
Primary amenorrhea	PMID: 20170344
Recurrent miscarriage	PMID: 14561815
Rheumatoid arthritis	PMID: 15235815
Endometriosis	INFBASE15536258
Sexual infantilism	PMID: 16772352
Spermatogenetic defects	PMID: 18980759
Spondyloarthropathies	PMID: 15372520
Systemic lupus erythematosus	PMID: 9588749
Tardive dyskinesia	PMID: 11839369
Uterine fibroids	PMID: 14995917

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
19001523	Endometrio sis					StAR side chain cleavage P450 3beta-hydroxysteroid-dehydrogenase-2 17-hydroxylase/17-20-lyase aromatase SF1 COUP-TFII WT1	Show abstract
17484509	Endometrio sis	CYP17 polymorphism (-34T-->C)		402 (121 women with surgically confirmed endo metriosis, 281 controls)			Show abstract
20113968	Endometrio sis	CYP17 T>C, CYP2C19 2, CYP2C19 3 polymorphisms		85 (46 patients with endometri osis, 39 health y controls)		CYP17 CYP2C19	Show abstract
15749482	Endometrio sis	ER alpha* 14 TA repeats, CYP17* A1		221 (119 women with endometrio sis, 108 contro ls)		ER alpha CYP17	Show abstract
15536258	Endometrio sis	CYP17* T allele		247 (119 severe endometriosis, 128 non-endome triosis groups)		CYP17	Show abstract
23809139	Endometrio sis	CYP17 -34 A/G and CYP19 Ex10 + C1558T	Polish	312 (115 women with diagnosed stage I-II endo metriosis, 197 fertile women a s controls)	Female infertility	CYP17 CYP19	Show abstract