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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CYP17A1 Gene

protein-coding   GIFtS: 69
GCID: GC10M104580

Cytochrome P450, Family 17, Subfamily A, Polypeptide 1

(Previous names: cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase),...)
(Previous symbol: CYP17)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Cytochrome P450, Family 17, Subfamily A, Polypeptide 11 2     S17AH2 3
CYP171 2 3 5     EC 1.14.99.93 8
Steroid 17-Alpha-Monooxygenase1 2 3     P450C172 5
Cytochrome P450, Subfamily XVII (Steroid 17-Alpha-Hydroxylase), Adrenal
Hyperplasia1 2
     CPT72
Cytochrome P450 17A12 3     Cytochrome P450 XVIIA12
Cytochrome P450-C172 3     Steroid 17-Alpha-Hydroxylase/17,20 Lyase2
Cytochrome P450c172 3     EC 4.1.2.303
17-Alpha-Hydroxyprogesterone Aldolase2 3     EC 1.14.998
CYPXVII2 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 Gene:
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)

GeneCards Summary for CYP17A1 Gene: 
CYP17A1 (cytochrome P450, family 17, subfamily A, polypeptide 1) is a protein-coding gene. Diseases associated with CYP17A1 include 17-alpha-hydroxylase/17,20-lyase deficiency, and 17-alpha-hydroxylase-deficient congenital adrenal hyperplasia, and among its related super-pathways are Mineralocorticoid biosynthesis and Cytochrome P450 - arranged by substrate type. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP1A2.

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 Gene:
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 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.2  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 plasmidCYP17A1 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for CYP17A1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation is necessary for 17,20-lyase, but not for 17-alpha-hydroxylase activity
  • View modification sites using PhosphoSitePlus
  • 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 MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CYP17A1 Protein Expression
    REFSEQ proteins: NP_000093.1  
    ENSEMBL proteins: 
     ENSP00000358903  
    Reactome Protein details: P05093
    Human Recombinant Protein Products for CYP17A1: 
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    Novus Biologicals CYP17A1 Proteins
    Novus Biologicals CYP17A1 Lysate
    Browse Sino Biological Recombinant Proteins
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005783endoplasmic reticulum NAS9326943
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0030424axon IEA--
    GO:0042995cell projection ----

    CYP17A1 for ontologies           About GeneDecksing



    CYP17A1 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CYP: Cytochrome P450s

    IUPHAR Guide to PHARMACOLOGY protein family classification: CYP17A1 
    CYP11, CYP17, CYP19, CYP20 and CYP21 families

    3 InterPro protein domains:
     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 domain: IPB002401 E-class P450 group I signature

    UniProtKB/Swiss-Prot: CP17A_HUMAN, P05093
    Similarity: Belongs to the cytochrome P450 family


    CYP17A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 C(21)-steroid + (reduced NADPH--hemoprotein reductase) + O(2) = a
    17-alpha-hydroxy-C(21)-steroid + (oxidized NADPH--hemoprotein reductase) + H(2)O
    Catalytic activity: 17-alpha-hydroxyprogesterone = androst-4-ene-3,17-dione + acetaldehyde
    Enzyme regulation: Regulated predominantly by intracellular cAMP levels

         Enzyme Numbers (IUBMB): EC 1.14.99.91 2 EC 4.1.2.301 EC 1.14.992

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004508steroid 17-alpha-monooxygenase activity IDA--
    GO:0005506iron ion binding IEA--
    GO:0009055electron carrier activity IEA--
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
    GO:0019825oxygen binding TAS2808364
         
    CYP17A1 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for CYP17A1:
     Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r  Increased G2M DNA content 

         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

    Animal Models:
         MGI mouse knock-outs for CYP17A1: Cyp17a1tm1Vpap Cyp17a1tm1Mell

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CYP17A1 
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    miRNA
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CYP17A1 About   (see all 12)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Mineralocorticoid biosynthesis
    Glucocorticoid biosynthesis0.71
    glucocorticoid biosynthesis0.50
    Glucocorticoid & Mineralcorticoid Metabolism0.67
    2Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type0.75
    Phase 1 - Functionalization of compounds0.74
    cytochrome P4500.75
    3Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    4Androgen biosynthesis
    androgen biosynthesis0.62
    Androgen biosynthesis0.62
    5Estrone metabolism
    Androstenedione and testosterone biosynthesis and metabolism p.10.57
    Steroid Biosynthesis0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    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

    5/7 BioSystems Pathways for CYP17A1 (see all 7)
        cytochrome P450
    glucocorticoid biosynthesis
    Prostate Cancer
    metapathway biotransformation
    Steroid Biosynthesis


    5/10        Reactome Pathways for CYP17A1 (see all 10)
        Cytochrome P450 - arranged by substrate type
    Metabolism
    Steroid hormones
    Androgen biosynthesis
    Endogenous sterols


    4         Kegg Pathways  (Kegg details for CYP17A1):
        Steroid hormone biosynthesis
    Metabolic pathways
    Ovarian steroidogenesis
    Prolactin signaling pathway

    UniProtKB/Swiss-Prot: CP17A_HUMAN, P05093
    Pathway: Lipid metabolism; steroid biosynthesis


    CYP17A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM 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)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP2R4Q152573, ENSP000003518854I2D: score=1 STRING: ENSP00000351885
    CYB5AP001673, ENSP000003416254I2D: score=2 STRING: ENSP00000341625
    PORP164353I2D: score=2 
    AKR1D1ENSP000002423754STRING: ENSP00000242375
    CGAENSP000003585954STRING: ENSP00000358595
    About this table

    Gene Ontology (GO): 5/41 biological process terms (GO ID links to tree view) (see all 41):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006082organic acid metabolic process ----
    GO:0006694steroid biosynthetic process TAS3500022
    GO:0006702androgen biosynthetic process TAS--
    GO:0006704glucocorticoid biosynthetic process TAS--
    GO:0006805xenobiotic 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, Ligands according to IUPHAR, 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
    CompoundAction CAS #
    PF 4981517Selective CYP3A4 inhibitor[1390637-82-7]
    MethoxyresorufinFluorometric CYP450 substrate[5725-89-3]
    Letrozole Potent, reversible non-steroidal aromatase inhibitor [112809-51-5]
    ExemestaneSteroidal aromatase (CYP19) inhibitor[107868-30-4]
    PentoxyresorufinFluorometric cytochrome P450 substrate[87687-03-4]

    10/18 HMDB Compounds for CYP17A1 (see all 18)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Androstenedione(4)-Androsten-3,17-dione (see all 14)63-05-814504283
    11b-Hydroxyprogesterone11b-Hydroxyprogesterone (see all 7)600-57-7--
    11beta-Hydroxyprogesterone ----
    17-Hydroxyprogesterone17-OHP (see all 15)68-96-2--
    17a,20a-Dihydroxycholesterol17alpha,20alpha-Dihydroxycholesterol ----
    17a-Hydroxypregnenolone17-Hydroxy-D5-pregnenolone (see all 9)387-79-1--
    20alpha-Hydroxycholesterol20alpha-Hydroxycholesterol (see all 4)516-72-3--
    21-Deoxycortisol11b,17-dihydroxy-Pregn-4-ene-3,20-dione (see all 10)641-77-0--
    Acetic acidAcetate (see all 12)64-19-7--
    Cyclic AMPCyclic AMP (see all 19)60-92-4--

    8 DrugBank Compounds for CYP17A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ProgesteroneCorpus Luteum Hormone (see all 4)57-83-0targetinhibitor12596217
    enzymeinhibitor12596217 19934256
    Abiraterone -- 154229-19-3targetinhibitor20645691
    Aldosterone(+)-aldosterone (see all 18)52-39-1enzymeinducer19934256
    Aminophenazone4-Dimethylaminoantipyrine (see all 3)58-15-1enzymesubstrate19934256
    DexamethasoneDesametasone (see all 9)50-02-2enzymeinhibitor19934256
    Dihydrotestosterone(5a,17b)-17-Hydroxyandrostan-3-one (see all 17)521-18-6enzymesubstrate19934256
    MetoclopramideMetaclopramide (see all 9)364-62-5enzymeinhibitor19934256
    NADHbeta-DPNH (see all 18)606-68-8target--17595315

    10/85 Novoseek inferred 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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    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
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369887(uc001kwg.3) ENST00000469683 ENST00000489268

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    Additional mRNA 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):

    AA340586 AV710594 BX279660 AV711503 AA349170 AA340749 AV706727 AV708250 
    AV710929 AV711044 AA340899 AV711286 AV708626 AV711168 BC063388 BX508739 
    AV704387 BI520509 AV708366 BM559917 AV706512 AV710102 AV706133 AA349302 

    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)      CYP17A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCTGGCTGC
    CYP17A1 Expression
    About this image


    CYP17A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Testicular Interstitial Cells Testis Interstitium
             Testis Interstitium
     
     Adrenal Gland (Endocrine System)    fully expand to see all 2 entries
             gland/adrenal gland/cortex   
     
     Ovary (Reproductive System)
             Theca Cells Antral Follicle
     
     Kidney (Urinary System)

     -- (Reproductive System)
             visceral organ   

    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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP17A1

    (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 9/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyp17a11 , 5 cytochrome P450, family 17, subfamily a, polypeptide more1, 5 74.82(n)1
    66.86(a)1
      19 (38.97 cM)5
    130741  NM_007809.31  NP_031835.31 
     466671655 
    chicken
    (Gallus gallus)
    Aves CYP17A16
    steroid 17-alpha-hydroxylase/17,20 lyase precursor...
    47(a)
    1 ↔ 1
    6(22924906-22927383)
    lizard
    (Anolis carolinensis)
    Reptilia CYP17A16
    cytochrome P450, family 17, subfamily A, polypepti...
    48(a)
    1 ↔ 1
    3(40249674-40280305)
    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 Cyp18a16
    Cyp304a16
    (see all 4)
    Cyp304a1
    (see all 4)
    24(a)
    21(a)
    (see all 4)
    possible ortholog
    possible ortholog
    (see all 4)
    X(18582570-18586778)
    3R(8789519-8791652)
    worm
    (Caenorhabditis elegans)
    Secernentea daf-96
    Protein DAF-9, isoform a
    20(a)
    possible ortholog
    X(6196927-6200818)
    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)
    About This Section
    Paralogs for CYP17A1 gene
    CYP1A22  CYP1B12  CYP1A12  CYP2D7P12  CYP21A22  
    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, 4UniProtKB, 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)
    About This Section

    10/179 SNPs in CYP17A1 are shown (see all 179)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0227504
    Adrenal hyperplasia 5 (AH5)4--see VAR_0227502 Y D mis40--------
    VAR_0227474
    Adrenal hyperplasia 5 (AH5)4--see VAR_0227472 F V mis40--------
    VAR_0012724
    Adrenal hyperplasia 5 (AH5)4--see VAR_0012722 S P mis40--------
    VAR_0227554
    Adrenal hyperplasia 5 (AH5)4--see VAR_0227552 F C mis40--------
    VAR_0227564
    Adrenal hyperplasia 5 (AH5)4--see VAR_0227562 P L mis40--------
    VAR_0012744
    Adrenal hyperplasia 5 (AH5)4--see VAR_0012742 P T mis40--------
    VAR_0012784
    Adrenal hyperplasia 5 (AH5)4--see VAR_0012782 R H mis40--------
    VAR_0227454
    Adrenal hyperplasia 5 (AH5)4--see VAR_0227452 P L mis40--------
    VAR_0131474
    Adrenal hyperplasia 5 (AH5)4--see VAR_0131472 F C mis40--------
    VAR_0012754
    Adrenal hyperplasia 5 (AH5)4--see VAR_0012752 R H mis40--------

    HapMap Linkage Disequilibrium report for CYP17A1 (104590288 - 104597290 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CYP17A1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv7527CNV Insertion18451855
    nsv526666CNV Loss19592680


    Human Gene Mutation Database (HGMD): CYP17A1
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing CYP17A1
    DNA2.0 Custom Variant and Variant Library Synthesis for CYP17A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609300   
    OMIM disorders: 202110  
    UniProtKB/Swiss-Prot: CP17A_HUMAN, P05093
  • Adrenal hyperplasia 5 (AH5) [MIM:202110]: 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). Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 20/93 diseases for CYP17A1 (see all 93):    About MalaCards
    17-alpha-hydroxylase/17,20-lyase deficiency    17-alpha-hydroxylase-deficient congenital adrenal hyperplasia    17,20-lyase deficiency, isolated    cytochrome p450 oxidoreductase deficiency
    adrenal carcinoma    pseudohermaphroditism    3-beta-hydroxysteroid dehydrogenase deficiency    antley-bixler syndrome
    leydig cell tumor    transsexualism    adrenal adenoma    mycetoma
    polycystic ovary syndrome    male breast cancer    hyperaldosteronism    gynecomastia
    hypospadias    hypokalemia    familial prostate cancer    amenorrhea

    4 diseases from the University of Copenhagen DISEASES database for CYP17A1:
    Hypokalemia     Prostate cancer     Antley-Bixler syndrome     Hypertension

    CYP17A1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/59 Novoseek inferred 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)
    About This Section

    PubMed articles for CYP17A1 gene, integrated from 9 sources (see all 881):
    (articles sorted by number of sources associating them with CYP17A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The T/C polymorphism of the CYP17 gene and G/A polymorphism of the CYP19 gene in endometrial cancer. (PubMed id 17167982)1, 4, 9 Szyllo K....Kulig B. (2006)
    2. The polymorphisms of the CYP17 and CYP19 genes in endometrial cancer patients. (PubMed id 16739881)1, 4, 9 Szyl/l/o K....Kulig A. (2006)
    3. 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)
    4. 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)
    5. A polymorphism in CYP17 and endometrial cancer risk. (PubMed id 11358812)1, 4, 9 Haiman C.A....De Vivo I. (2001)
    6. CYP17 and COMT gene polymorphisms can influence bone directly, or indirectly through their effects on endogenous sex steroids, in postmenopausal Japanese women. (PubMed id 16971197)1, 4, 9 Gorai I....Chaki O. (2007)
    7. CYP17 genetic variation and risk of breast and prostate cancer from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3). (PubMed id 18006912)1, 4, 9 Setiawan V.W....Chanock S.J. (2007)
    8. The association of 5alpha-reductase II (SRD5A2) and 17 hydroxylase (CYP17) gene polymorphisms with prostate cancer patients in the Turkish population. (PubMed id 17328668)1, 4, 9 Onen I.H....Biri H. (2007)
    9. Germ-line genetic variation in the key androgen-regulating genes androgen receptor, cytochrome P450, and steroid-5-alpha-reductase type 2 is important for prostate cancer development. (PubMed id 17108148)1, 4, 9 Lindstrom S....Gronberg H. (2006)
    10. CYP17 genetic polymorphism, breast cancer, and breast cancer risk factors. (PubMed id 12631398)1, 4, 9 Ambrosone C.B....Shields P.G. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1586 HGNC: 2593 AceView: CYP17A1 Ensembl:ENSG00000148795 euGenes: HUgn1586
    ECgene: CYP17A1 Kegg: 1586 H-InvDB: CYP17A1

    (According to HUGE)
    About This Section
      --

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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CYP17A1 gene:
    Search GeneIP for patents involving CYP17A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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