CYP17A1 Gene
protein-coding GIFtS : 66
GC10M104580
cytochrome P450, family 17, subfamily A, polypeptide 1 (Previous names: cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia )Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database (Previous symbol: CYP17 )
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Aliases & Descriptions for CYP17A1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases CPT7 1 , 2 CYP17 2 , 3 , 5 CYPXVII 3 EC 1.14.99.9 3 OTTHUMP00000020382 2 P450-C17 3 P450C17 1 , 2 , 5 P450c17 3 S17AH 1 , 2 , 3
Descriptions Cytochrome P450 17A1 3 Steroid 17-alpha-monooxygenase 2 , 3 cytochrome P450, family 17 2 cytochrome P450, family 17, subfamily A, polypeptide 1 2 cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia 1 , 2 cytochrome p450 XVIIA1 2 steroid 17-alpha-hydroxylase/17,20 lyase 2
Search outside databases for aliases for CYP17A1 genePrevious GC identifers: GC10M103823 GC10M104721 GC10M104254
Summaries for CYP17A1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for CYP17A1 : This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450proteins are monooxygenases which catalyze many reactions involved in drug metabolism andsynthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmicreticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in thesteroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens,and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylasedeficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenalhyperplasia. [provided by RefSeq] UniProtKB/Swiss-Prot: CP17A_HUMAN, P05093 Function : Conversion of pregnenolone and progesterone to their 17-alpha-hydroxylated products andsubsequently to dehydroepiandrosterone (DHEA) and androstenedione. Catalyzes both the17-alpha-hydroxylation and the 17,20-lyase reaction. Involved in sexual development during fetallife and at puberty
Gene Wiki entry for CYP17A1
Genomic Location for CYP17A1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the CYP17A1 gene 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) GeneLoc gene densities for chromosome 10 GeneLoc Exon Structure
GeneLoc location for GC10M104580:
(about GC identifiers )
Start:
104,580,278 bp from pter
End:
104,587,280 bp from pter
Size:
7,003 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000010.9 NT_030059.12 Proteins for CYP17A1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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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). Membrane; Single-pass membrane protein
PDB structures from and Proteopedia : 2C17 (3D)
 
Secondary accessions : Q5TZV7
Post-translational modifications:
Phosphorylation is necessary for 17,20-lyase, but not for 17-alpha-hydroxylase activity1
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins: NP_000093.1 ENSEMBL proteins: ENSP00000358903 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6
):
About this table Antibodies for CYP17A1: Assays for CYP17A1:
Protein
Domains/ Families for CYP17A1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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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
Gene Function for CYP17A1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000102 Applied Biosystems Silencer ® siRNAs for CYP17A1 Sigma-Aldrich siRNA and siRNA Panels for CYP17A1 Sigma-Aldrich shRNA for CYP17A1 Explore Sigma-Aldrich super-pooled esiRNAs               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000102                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000102                                  untagged cDNA clone in CMV expression vector: NM_000102  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000102 UniProtKB/Swiss-Prot: CP17A_HUMAN, P05093 Function : Conversion of pregnenolone and progesterone to their 17-alpha-hydroxylated products andsubsequently to dehydroepiandrosterone (DHEA) and androstenedione. Catalyzes both the17-alpha-hydroxylation and the 17,20-lyase reaction. Involved in sexual development during fetallife and at puberty Catalytic activity : A steroid + AH(2) + O(2) = a 17-alpha-hydroxysteroid + A + H(2)OEnzyme regulation : Regulated predominantly by intracellular cAMP levelsEnzyme Number (IUBMB): EC 1.14.99.9
1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Cyp17a1) :5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6
):
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Pathways & Interactions for CYP17A1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for CYP17A1 (Your Favorite Gene powered by Ingenuity) UniProtKB/Swiss-Prot: CP17A_HUMAN, P05093 Pathway : Lipid metabolism; steroid biosynthesis
Gene Network CentralTM Interacting Genes and Proteins Network for CYP17A1 5/47 Interacting proteins for CYP17A1 (ENSP00000358903 3 ) via UniProtKB, MINT, and/or STRING (see all 47
)About this table 5 Gene Ontology (GO) biological process terms (links to tree view) :
About this table
Drugs & Compounds for CYP17A1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Enzo Life Sciences drugs & compounds for CYP17A1
Sigma-Aldrich Small Molecules for CYP17A1:Inhibitor
Browse Tocris compounds for CYP17A1 10/50 Novoseek chemical compound relationships for CYP17A1 gene (see all 50
)
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
3beta-hydroxysteroid
90.83
71
15730543 (2), 8550761 (2), 8943800 (1), 9851802 (1) (see all 65 )
17-hydroxypregnenolone
90.78
13
12464253 (1), 12573809 (1), 8396144 (1), 14504283 (1) (see all 12 )
dhea
85.35
86
9927319 (4), 10824109 (3), 8943800 (2), 9768686 (2) (see all 44 )
17-hydroxyprogesterone
83.35
12
9211124 (2), 12464253 (1), 17386955 (1), 8969926 (1) (see all 10 )
steroid
82.54
152
11358812 (3), 11440959 (3), 11036113 (2), 10070957 (2) (see all 99 )
androstenedione
82.34
24
14504283 (2), 10919257 (1), 12915666 (1), 9029727 (1) (see all 19 )
abiraterone acetate
78.37
4
18645193 (3), 19189435 (1), 19223900 (1)
16alpha-hydroxyprogesterone
77.58
1
17386955 (1)
17alpha-hydroxysteroid
71.82
1
8943800 (1)
progesterone
71.04
68
8948449 (3), 12464252 (3), 17484509 (3), 12423360 (3) (see all 43 )
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Transcripts for CYP17A1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
Tagged/untagged cDNA clones from
OriGene , Expression Assays from Applied Biosystems )About This Section
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000102 Sigma-Aldrich siRNA and siRNA Panels for CYP17A1 Sigma-Aldrich shRNA for CYP17A1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000102
REFSEQ mRNAs for CYP17A1 gene: NM_000102.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000102
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000102                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000102                                  untagged cDNA clone in CMV expression vector: NM_000102  
Additional cDNA sequence: AK094106.1 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.75146340 DT.95274036 DT.100793744 DT.92443848 DT.95280371 DT.100793745 DT.121299706 DT.121299718 DT.121299769 DT.87014926 DT.91810671 DT.92443849 DT.92443850 DT.92443853 DT.91957907
24/166 AceView cDNA sequences (see all 166
):AV710594 AV704387 AV711286 AV711044 AA340586 AA340899 AA349302 AV711503 AV711168 AA349170 BI520509 BX508739 BX279660 AV708626 AV706727 AV708250 AV710929 AV708366 AV710102 AV706133 AV706512 BM559917 BC063388 AA340749
highest scoring ESTs for CYP17A1 :M14564 AU120851 BC032843 BC062997 BC063388 BI458918 BI827786 BI829004 BI829884 BI831667
Unigene Cluster for CYP17A1: Cytochrome P450, family 17, subfamily A, polypeptide 1 Hs.438016 [show with all ESTs ] Unigene Representative Sequence: AK094106 GeneLoc Exon Structure 5/7 Alternative Splicing Database (ASD) splice patterns (SP) for CYP17A1 (see all 7
) 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 :                       -   -              
About this scheme ECgene alternative splicing isoforms for CYP17A1 1 Ensembl transcript including schematic representation : ENST00000369887
Expression for CYP17A1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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CYP17A1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for CYP17A1 1 / 2 / 3
6 probe-sets matching CYP17A1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GCCTGGCTGCSOURCE GeneReport for Unigene cluster: Hs.438016 Expression variation in blood from EXPOLDB for CYP17A1
Orthologs for CYP17A1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for CYP17A1 gene from 5/9 species (see all 9
)
Organism
Gene
Locus
Description
Human Similarity
NCBI accessions
dog (Canis familiaris)
LOC4778071
--
similar to Cytochrome P450 17A1 (CYPXVII) (P450-C17) more
83.79(n) 78.94(a)
477807 XM_846133.1 XP_851226.1
chimpanzee (Pan troglodytes)
CYP17A11
--
cytochrome P450, family 17, subfamily A, polypeptide more
99.41(n) 99.61(a)
450141 NM_001009052.1 NP_001009052.1
cow (Bos taurus)
CYP171
--
cytochrome P450, subfamily XVII
80.12(n) 71.06(a)
281739 NM_174304.1 NP_776729.1
rat (Rattus norvegicus)
Cyp17a11
--
cytochrome P450, family 17, subfamily a, polypeptide more
76.2(n) 68.44(a)
25146 NM_012753.1 NP_036885.1
mouse (Mus musculus)
Cyp17a11 , 5
19 (46.00 cM) 5
cytochrome P450, family 17, subfamily a, polypeptide more 1, 5
74.75(n) 1 66.86(a) 1
13074 1 NM_007809.2 1 NP_031835.2 1 AK132830 5 AK134376 5 (see all 12 )
About this table Species with no ortholog for CYP17A1 ENSEMBL Gene Tree for CYP17A1 Paralogs for CYP17A1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for CYP17A1 gene CYP21A2 2
SNPs/Variants for CYP17A1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for CYP17A1 (up to first 250kb)
Disorders & Mutations for CYP17A1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 609300 disorders : 202110 202110 UniProtKB/Swiss-Prot: CP17A_HUMAN, P05093
Defects in CYP17A1 are the cause of adrenal hyperplasia type 5 (AH5) [MIM:202110]. AH5 isa form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis ofcortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguousgenitalia in affected females, rapid somatic growth during childhood in both sexes with prematureclosure of the epiphyses and short adult stature. Four clinical types: "salt wasting" (SW, themost severe type), "simple virilizing" (SV, less severely affected patients), with normalaldosterone biosynthesis, "non-classic form" or late onset (NC or LOAH), and "cryptic"(asymptomatic)
10/59 Novoseek disease relationships for CYP17A1 gene (see all 59
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
infantilism sexual
91.09
9
16483711 (1), 17379008 (1), 18832096 (1), 12701064 (1) (see all 7 )
antley-bixler syndrome
79.28
1
15483095 (1)
polycystic ovary syndrome
77.44
21
19013303 (2), 15482786 (2), 7479852 (2), 10065777 (2) (see all 17 )
adrenal hyperplasia congenital
76.09
12
17379008 (3), 1577471 (1), 17505056 (1), 7626447 (1) (see all 9 )
adenoma adrenocortical
73.66
12
1835446 (3), 1820978 (2), 9851803 (2), 11857908 (2) (see all 7 )
hyperandrogenism
72.14
14
11095477 (4), 9704303 (2), 8773744 (1), 9135692 (1) (see all 8 )
pseudohermaphroditism male
67.32
2
16483711 (1), 1621662 (1)
carcinoma adrenocortical
67.27
3
11869873 (1), 16828825 (1), 18022659 (1)
polycystic ovaries
63.06
6
11821083 (2), 9648052 (1), 17895316 (1), 8923880 (1) (see all 5 )
prostate cancer
60.45
117
11059764 (6), 12954495 (5), 11440959 (5), 11535545 (4) (see all 55 )
About this table Human Gene Mutation Database : CYP17A1 Genetic Association Database: CYP17A1 Human Genome Epidemiology Navigator: CYP17A1 (204 documents)
Medical News for CYP17A1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for CYP17A1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/704 PubMed articles for CYP17A1 gene (see all 704
): CYP17 polymorphisms in relation to risks of prostate cancer and benign prostatic hyperplasia: a population-based study in China. (PubMed id 12949806) 1, 3, 6 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, 3, 6 Habuchi T....Kato T. (2000) A polymorphism in CYP17 and endometrial cancer risk. (PubMed id 11358812) 1, 3, 6 Haiman C.A....De Vivo I. (2001) CYP17 genetic polymorphism, breast cancer, and breast cancer risk factors. (PubMed id 12631398) 1, 3, 6 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, 3, 6 Ntais C....Ioannidis J.P. (2003) Combined 17alpha-hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene. (PubMed id 11836339) 1, 3, 4 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, 3, 6 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, 3, 6 Haiman C.A....Hunter D.J. (2001) Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency. (PubMed id 11549685) 1, 3, 4 Gupta M.K.... Auchus R.J. (2001) Genetic polymorphism of CYP17 and breast cancer risk in Korean women. (PubMed id 15761247) 1, 3, 6 Shin M.H....Kang D. (2005)
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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.genetests.org/query?gene=CYP17A1
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