Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1586
Gene name	Cytochrome P450 family 17 subfamily A member 1
Gene symbol	CYP17A1
Synonyms (NCBI Gene)	CPT7CYP17P450C17S17AH
Chromosome	10
Chromosome location	10q24.32
Summary	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

Show/Hide all (15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894135	A>G	Pathogenic	Missense variant, coding sequence variant
rs104894138	G>A	Pathogenic	Missense variant, coding sequence variant
rs104894141	C>T	Pathogenic	Stop gained, coding sequence variant
rs104894146	A>C	Pathogenic	Missense variant, coding sequence variant
rs104894147	A>C	Pathogenic	Missense variant, coding sequence variant
rs104894148	T>A	Pathogenic	Missense variant, coding sequence variant
rs104894152	G>T	Pathogenic	Stop gained, coding sequence variant
rs104894153	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894154	C>T	Pathogenic	Missense variant, coding sequence variant
rs121434319	AAG>-	Pathogenic	Inframe deletion, coding sequence variant
rs764723654	A>G	Not-provided, pathogenic	Splice donor variant
rs786205061	C>A	Pathogenic	Intron variant
rs786205062	GACAATCACTGTAGTCTTGGTGCCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1395913655	T>G	Pathogenic	Splice acceptor variant
rs1590204913	T>C	Likely-pathogenic	Missense variant, initiator codon variant

Show/Hide all (9)

miRTarBase ID	miRNA	Experiments
MIRT920464	hsa-miR-3689a-3p	CLIP-seq
MIRT920465	hsa-miR-3689c	CLIP-seq
MIRT920466	hsa-miR-3714	CLIP-seq
MIRT920467	hsa-miR-3940-5p	CLIP-seq
MIRT920468	hsa-miR-4425	CLIP-seq
MIRT920469	hsa-miR-4481	CLIP-seq
MIRT920470	hsa-miR-4507	CLIP-seq
MIRT920471	hsa-miR-4745-5p	CLIP-seq
MIRT920472	hsa-miR-759	CLIP-seq

Show/Hide all (15)

Transcription factor	Regulation	Reference
CREB1	Unknown	2543297
GATA4	Unknown	14988427
GATA6	Activation	15284005
GATA6	Unknown	14988427
NFIC	Activation	14684846
NFIC	Unknown	11463853
NR0B1	Repression	11592817
NR2F1	Repression	11592817
NR4A1	Unknown	20083153
NR5A1	Activation	17786540
NR5A1	Unknown	17664281;21467194;23530236
PIAS1	Unknown	21467194
SMAD3	Repression	17786540
SP1	Unknown	11379008;11463853
SP3	Unknown	11463853

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IEA
GO:0004508	Function	Steroid 17-alpha-monooxygenase activity	IBA
GO:0004508	Function	Steroid 17-alpha-monooxygenase activity	IDA	9452426, 22266943, 36640554
GO:0004508	Function	Steroid 17-alpha-monooxygenase activity	IEA
GO:0004508	Function	Steroid 17-alpha-monooxygenase activity	IMP	22170710, 24140098
GO:0004508	Function	Steroid 17-alpha-monooxygenase activity	TAS	1347802
GO:0005506	Function	Iron ion binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	NAS	9326943
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006694	Process	Steroid biosynthetic process	TAS	3500022
GO:0006702	Process	Androgen biosynthetic process	IEA
GO:0006702	Process	Androgen biosynthetic process	TAS
GO:0006704	Process	Glucocorticoid biosynthetic process	IEA
GO:0006704	Process	Glucocorticoid biosynthetic process	IEA
GO:0006704	Process	Glucocorticoid biosynthetic process	TAS
GO:0007548	Process	Sex differentiation	TAS	9326943
GO:0008202	Process	Steroid metabolic process	IDA	22266943
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008395	Function	Steroid hydroxylase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0016712	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0019825	Function	Oxygen binding	TAS	2808364
GO:0020037	Function	Heme binding	IDA	22266943
GO:0020037	Function	Heme binding	IEA
GO:0030424	Component	Axon	IEA
GO:0034651	Process	Cortisol biosynthetic process	IDA	9452426
GO:0042445	Process	Hormone metabolic process	IEA
GO:0042446	Process	Hormone biosynthetic process	IBA
GO:0042446	Process	Hormone biosynthetic process	IDA	22266943
GO:0042448	Process	Progesterone metabolic process	IBA
GO:0042448	Process	Progesterone metabolic process	IDA	22266943
GO:0043025	Component	Neuronal cell body	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0120254	Process	Olefinic compound metabolic process	IEA

MIM	HGNC	e!Ensembl
609300	2593	ENSG00000148795

P05093

Protein 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)

Protein function

A cytochrome P450 monooxygenase involved in corticoid and androgen biosynthesis (PubMed:22266943, PubMed:25301938, PubMed:27339894, PubMed:9452426). Catalyzes 17-alpha hydroxylation of C21 steroids, which is common for both pathways. A second ox

PDB

3RUK , 3SWZ , 4NKV , 4NKW , 4NKX , 4NKY , 4NKZ , 5IRQ , 5IRV , 5UYS , 6CHI , 6CIR , 6CIZ , 6WR0 , 6WR1 , 6WW0 , 8FDA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00067	p450	28 → 493	Cytochrome P450	Domain

Sequence

MWELVALLLLTLAYLFWPKRRCPGAKYPKSLLSLPLVGSLPFLPRHGHMHNNFFKLQKKY
GPIYSVRMGTKTTVIVGHHQLAKEVLIKKGKDFSGRPQMATLDIASNNRKGIAFADSGAH
WQLHRRLAMATFALFKDGDQKLEKIICQEISTLCDMLATHNGQSIDISFPVFVAVTNVIS
LICFNTSYKNGDPELNVIQNYNEGIIDNLSKDSLVDLVPWLKIFPNKTLEKLKSHVKIRN
DLLNKILENYKEKFRSDSITNMLDTLMQAKMNSDNGNAGPDQDSELLSDNHILTTIGDIF
GAGVETTTSVVKWTLAFLLHNPQVKKKLYEEIDQNVGFSRTPTISDRNRLLLLEATIREV
LRLRPVAPMLIPHKANVDSSIGEFAVDKGTEVIINLWALHHNEKEWHQPDQFMPERFLNP
AGTQLISPSVSYLPFGAGPRSCIGEILARQELFLIMAWLLQRFDLEVPDDGQLPSLEGIP
KVVFLIDSFKVKIKVRQAWREAQAEGST

Sequence length

508

Interactions

View interactions

	KEGG		Reactome
	Steroid hormone biosynthesis Metabolic pathways Ovarian steroidogenesis Prolactin signaling pathway Cortisol synthesis and secretion Cushing syndrome		Androgen biosynthesis Glucocorticoid biosynthesis Defective CYP17A1 causes Adrenal hyperplasia 5 (AH5)

269

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
17,20-lyase deficiency, isolated	Pathogenic; Likely pathogenic	rs61754278, rs104894139	RCV000001860 RCV000001861
17-alpha-hydroxylase/17,20-lyase deficiency, combined complete	Likely pathogenic; Pathogenic	rs556794126, rs1844147475, rs104894135, rs104894138, rs1564777724, rs104894141, rs786205061, rs104894146, rs104894147, rs104894142, rs104894143, rs104894144, rs104894145, rs104894152, rs104894153, rs104894154, rs104894155, rs756135168 View all (3 more)	RCV000001849 RCV000001851 RCV000001852 RCV000001858 RCV000001859 RCV000001862 RCV000001863 RCV000001864 RCV000001865 RCV000001869 RCV000001870 RCV000001871 RCV000001872 RCV000001874 RCV000001875 RCV000001876 RCV000001877 RCV002265882
17-alpha-hydroxylase/17,20-lyase deficiency, combined partial	Likely pathogenic; Pathogenic	rs121434319, rs104894136, rs104894137, rs2134081192, rs104894148, rs104894149, rs786205062, rs104894151, rs1395913655	RCV000001850 RCV000001854 RCV000001856 RCV000001857 RCV000001866 RCV000001867 RCV000001868 RCV000001879 RCV000001880
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	Pathogenic; Likely pathogenic	rs104894149, rs374769118	RCV003988818 RCV003992773
Breast cancer, susceptibility to	Pathogenic	rs104894136	RCV000001855
Congenital adrenal hyperplasia	Likely pathogenic; Pathogenic	rs367833709, rs1423560123, rs777638364, rs1844148108, rs61754262, rs556794126, rs104894138, rs104894139, rs104894149, rs104894142, rs104894153, rs769188557, rs774737304, rs868228603, rs773865367, rs751960113 View all (1 more)	RCV004782730 RCV004699349 RCV005912581 RCV003323935 RCV002222923 RCV002223055 RCV002271363 RCV003114170 RCV001804710 RCV001804711 RCV003114171 RCV002298430 RCV004765854 RCV004690416 RCV004690417 RCV004690508 RCV004586262
CYP17A1-related disorder	Pathogenic; Likely pathogenic	rs367833709, rs104894135, rs104894142, rs104894155, rs1458440922, rs879802265, rs1844105842	RCV003401710 RCV003914797 RCV003415624 RCV003398415 RCV003906153 RCV004749630 RCV003898242
Deficiency of steroid 17-alpha-monooxygenase	Pathogenic; Likely pathogenic	rs942376359, rs367833709, rs1423560123, rs1844126291, rs2134082367, rs1173000590, rs777638364, rs757083287, rs752540777, rs1250463562, rs371825363, rs1844148108, rs61754262, rs556794126, rs121434319 View all (65 more)	RCV003465920 RCV003469628 RCV001826120 RCV001826121 RCV003469620 RCV001826177 RCV001780601 RCV003470899 RCV003470931 RCV004571738 RCV003317561 RCV003471287 RCV003471269 RCV002221694 RCV003471292 RCV002502035 RCV000337017 RCV001826402 RCV000763211 RCV000709946 RCV005632151 RCV000501502 RCV004566670 RCV000185577 RCV003466780 RCV002221463 RCV001831505 RCV003466781 RCV001831506 RCV003460404 RCV001826403 RCV003225015 RCV002288295 RCV003465949 RCV004572742 RCV003465813 RCV004571254 RCV003143879 RCV004572922 RCV003468627 RCV003468628 RCV003468629 RCV003468632 RCV003468633 RCV003468634 RCV003468635 RCV003468636 RCV003468637 RCV003468638 RCV003468639 RCV003468640 RCV003468641 RCV003468642 RCV003468643 RCV003468645 RCV003468646 RCV003468647 RCV003468648 RCV003468649 RCV003468651 RCV003468652 RCV003468653 RCV003468654 RCV003468655 RCV003468656 RCV004574102 RCV004574164 RCV004574322 RCV004549038 RCV004575749 RCV004575750 RCV004575751 RCV000477958 RCV000709945 RCV000500014 RCV000778268 RCV001830766 RCV002501117 RCV001830758 RCV003467722 RCV001833850 RCV002497801 RCV002499416 RCV001563705
Differences in sex development	Likely pathogenic; Pathogenic	rs556794126, rs104894138, rs104894154	RCV005865147 RCV005865148 RCV005865149

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Likely benign	rs781079819	RCV005912852
Ovarian serous cystadenocarcinoma	Uncertain significance	rs369081864	RCV005910829
Premature ovarian failure	Conflicting classifications of pathogenicity	rs1428700861	RCV001270218

Show/Hide Text Mining Associations (126)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
17 20 Lyase Deficiency Isolated	Associate	18559916, 22170710, 29345162, 35682463
46 XX Testicular Disorders of Sex Development	Associate	26345865
46 XY female	Associate	29345162
Acne Vulgaris	Associate	12787114
ACTH Secreting Pituitary Adenoma	Associate	35675123
Adenocarcinoma	Associate	26414697
Adenocarcinoma of Lung	Associate	35403268
Adenoma	Associate	1535042, 25120827, 36960396
Adrenal Gland Neoplasms	Associate	27403928, 29345162
Adrenal Hyperplasia Congenital	Associate	17454159, 19884324, 22452398, 26920256, 27376429, 27959413, 28609197, 31464148, 33108090, 37542252, 37683689
Adrenal hyperplasia congenital type 5	Associate	10856480, 10877510, 1714904, 19499410, 21846181, 22103881, 22452398, 22954317, 23772786, 24597476, 25027547, 26345865, 26607998, 26845730, 27959413 View all (18 more)
Adrenocortical Adenoma	Associate	25120827, 31789380, 35675123
Alkalosis	Associate	29278670
Alopecia	Associate	12787114, 37645625
Alzheimer Disease	Associate	22057025
Amenorrhea	Associate	22087567, 26920256, 37542252
Androgen Insensitivity Syndrome	Associate	31358067
Androgen Insensitivity Syndrome	Stimulate	8908530
Antley Bixler Syndrome Phenotype	Associate	19837910, 20170344, 21190981, 27376429
Antley Bixler Syndrome Phenotype	Inhibit	32994263
Anxiety	Associate	27117436
Autism Spectrum Disorder	Associate	33024080
Barrett Esophagus	Associate	26414697
Bone Diseases	Associate	15237001
Breast Cyst	Associate	22456087
Breast Neoplasms	Associate	11212283, 12631398, 12644832, 15237001, 15642171, 15987450, 15987458, 16280037, 16280038, 16702327, 18483327, 19379515, 19469636, 20072949, 21338212 View all (9 more)
Breast Neoplasms	Inhibit	29510000
Breast Neoplasms Male	Associate	10487625, 12644832
Carcinogenesis	Associate	24687554
Carcinoma Hepatocellular	Inhibit	29085212
Carcinoma Hepatocellular	Associate	29085212, 40389832
Cardiomegaly	Associate	26263970
Cholangiocarcinoma	Associate	28445152
Cleft Palate	Associate	27409606
Colorectal Neoplasms	Associate	21627810, 26965516
Congenital adrenal hyperplasia due to 11 Beta hydroxylase deficiency	Associate	22087567, 22954317, 28609197, 31358067, 31464148, 31885295, 36589849, 37542252, 38045661, 38148007, 9790261
Congenital central hypoventilation syndrome	Associate	26607998, 28008861, 30614301, 30695673, 34097983, 36129002, 37316894, 37683689
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	37542252
Coronary Artery Disease	Associate	21966275, 25592814, 25889125
Depressive Disorder	Associate	27117436
Depressive Disorder Major	Inhibit	28752602
Developmental Disabilities	Associate	32945709
Diabetes Mellitus	Associate	23133444
Disorder of Sex Development 46 XY	Associate	10877510, 29278670
Disorders of Sex Development	Associate	19837910, 26980296, 27376429, 35682463, 38045661, 9601054
Down Syndrome	Associate	22057025
Dyskinesia Drug Induced	Associate	24389397
Endometrial Hyperplasia	Associate	16515644
Endometrial Neoplasms	Associate	10065793, 16515644, 18437511
Endometriosis	Associate	15749482, 17484509, 18930188, 23809139, 28614857, 29995789
Essential Hypertension	Associate	28537227
Fibroadenoma	Inhibit	15241822
Gallbladder Neoplasms	Associate	24687554
Gallstones	Associate	26225710
Gastrointestinal Neoplasms	Associate	40022682
Genetic Diseases Inborn	Associate	10877510, 36800681
Glioblastoma	Associate	34505421
Granulosa Cell Tumor	Associate	28541629
Growth Disorders	Associate	26607998, 33108090
Gynecomastia	Associate	26845730
Hereditary Angioedema Type III	Associate	22057025
Herpes Zoster	Associate	32516371
Hirsutism	Associate	12787114
Hyperaldosteronism	Associate	21248073, 23257735, 27681703, 33796077
Hyperandrogenism	Associate	32456493, 7479852
Hyperplasia	Associate	25927242
Hypertension	Associate	17454159, 20921432, 22087567, 23133444, 24597476, 26902494, 26920256, 28537227, 29278670, 29338791, 31885295, 32945709, 32977860
Hypertrophy Left Ventricular	Associate	26263970
Hypogonadism	Associate	17454159, 26920256, 29278670
Hypokalemia	Associate	29278670, 32945709
Hypospadias	Associate	30858503
Hypotension Orthostatic	Associate	22504314
Hypothyroidism Congenital Nongoitrous 2	Associate	25120827
Immunoglobulin G4 Related Disease	Associate	16603433
Immunologic Deficiency Syndromes	Associate	29595516
Infertility	Associate	19837910, 23809139
Infertility Female	Associate	37316894
Insulin Resistance	Associate	25208301, 27748298, 7479852
Intrahepatic Cholestasis of Pregnancy	Associate	30484676
Kidney Calculi	Associate	26225710
Late Onset Disorders	Associate	39806744
Leiomyoma	Associate	18645709
Lung Neoplasms	Associate	19174490
Lymphoma Large B Cell Diffuse	Associate	15916684
Lymphoma Non Hodgkin	Associate	15916684
MASS syndrome	Associate	25027547
Mental Disorders	Associate	27117436
Mood Disorders	Associate	27117436
Mullerian aplasia	Associate	21377155
Muscular Dystrophy Duchenne	Associate	17002564
Myelolipoma	Associate	30614301
Neoplasm Metastasis	Associate	18519708
Neoplasm Metastasis	Inhibit	24244276
Neoplasms	Associate	16515644, 19270420, 22184395, 24097974, 24882673, 26225710, 27165211, 27430645, 28541629, 31789380, 32516371, 8732455
Nocturnal Enuresis	Associate	36800681
Obesity	Associate	22653668, 27748298, 29220676
Obesity	Stimulate	31417029
Osteoporosis	Associate	15237001, 17002564
Ovarian Neoplasms	Associate	24097974, 25027547, 26526982, 32590918, 8557160
Ovarian Torsion	Associate	26920256
Pancreatic Neoplasms	Associate	19642097, 27165211
Penis agenesis	Associate	35682463
Personality Disorders	Associate	22542949, 25337833, 28981526
Polycystic Ovary Syndrome	Associate	10065777, 11821083, 18725155, 21824047, 22238371, 24706793, 25208301, 27748298, 29074860, 29564739, 31184707, 32456493, 32960117, 7479852
Polycystic Ovary Syndrome	Stimulate	34233642
Pre Eclampsia	Associate	32977860
Pressure Ulcer	Associate	25820152
Prostate cancer familial	Associate	15865082
Prostatic Hyperplasia	Associate	24606449, 39806744
Prostatic Neoplasms	Associate	11847524, 15865082, 17194026, 18163429, 19443382, 19642097, 20503394, 22174412, 22411952, 22542949, 23129512, 23621184, 25337833, 26985923, 28981526, 31017696, 36773804, 38104728 View all (3 more)
Prostatic Neoplasms Castration Resistant	Associate	18519708, 22411952, 24882673, 25897673, 26954071, 27409606, 31017696, 39337362
Puberty Delayed	Associate	28609197, 31885295
Pulmonary Arterial Hypertension	Associate	17454159, 26263970
Sarcoma Alveolar Soft Part	Associate	19146682
Sex Chromosome Disorders of Sex Development	Associate	22170710, 34524979
Sexual Infantilism	Associate	17454159, 22087567, 37542252
Slipped Capital Femoral Epiphyses	Associate	30614301
Stiff Skin Syndrome	Associate	23133444
Stomach Neoplasms	Associate	19015200, 27893427
Sveinsson Chorioretinal Atrophy	Associate	27409606
Thrombophilia	Associate	15237001
Urinary Bladder Calculi	Associate	26225710
Uterine Diseases	Associate	16515644
Ventricular Dysfunction Left	Associate	26263970
Virilism	Associate	12787114
Vitamin D Hydroxylation Deficient Rickets Type 1A	Associate	16477341

CYP17A1 (cytochrome P450 family 17 subfamily A member 1)