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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)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

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
External Ids
HGNC: 25931
Entrez Gene: 15862
UniProtKB: P050933
Ensembl: ENSG000001487957
Search outside databases for aliases for CYP17A1 gene

Previous GC identifers: GC10M103823 GC10M104721 GC10M104254

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for CYP17A1:
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]

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

Gene Wiki entry 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

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  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, 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)
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). 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 PhosphoSite2


  • REFSEQ proteins: NP_000093.1  

    ENSEMBL proteins: 
    ENSP00000358903 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (Cytochrome P450 17A1)
    Human Recombinant Proteins from Abnova (CYP17A1)
                    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 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739 mitochondrion IEA--
    GO:0005783 endoplasmic reticulum NAS9326943
    GO:0005789 endoplasmic reticulum membrane EXP10406467
    GO:0016020 membrane IEA--
    GO:0030424 axon IEA--
    About this table

    Antibodies for CYP17A1: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (Cytochrome P450 17A1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (CYP17A1)
    Novus Biologicals Antibodies for CYP17A1

    Assays for CYP17A1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    4 InterPro domains/families:
     IPR001128 Cyt_P450
     IPR017973 Cyt_P450_C
     IPR017972 Cyt_P450_CS
     IPR002401 Cyt_P450_E_grp-I


       GeneDecks  CYP17A1 for the domains selected above  
    About GeneDecksing

    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

    (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.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (CYP17A1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (CYP17A1)
                  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  

    Clones:Invitrogen Clones for CYP17A1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  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 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 steroid + AH(2) + O(2) = a 17-alpha-hydroxysteroid + A + H(2)O
    Enzyme regulation: Regulated predominantly by intracellular cAMP levels
    Enzyme Number (IUBMB): EC 1.14.99.9 

    1 MGI mutant phenotype (inferred from 1 allele(MGI details for Cyp17a1):

    lethality-prenatal/perinatal

    5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004497 monooxygenase activity IEA--
    GO:0004508 steroid 17-alpha-monooxygenase activity TAS1347802
    GO:0009055 electron carrier activity IEA--
    GO:0019825 oxygen binding TAS2808364
    GO:0020037 heme binding IEA--
    About this table

    (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 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    4 Invitrogen iPath™ Online BioAtlas - Pathways for CYP17A1 (Maps provided by GeneGo):
     Aldosterone biosynthesis and metabolism
     Biosynthesis and metabolism of pregnenolone and progesterone
     Biosynthesis and metabolism of cortisone
     Androgens and estrogen metabolism, part I

       GeneDecks  CYP17A1 for the pathways selected above  
    About GeneDecksing

    1 Millipore Pathway for CYP17A1
     Androstenedione and testosterone biosynthesis and metabolism p.1

       GeneDecks  CYP17A1 for the pathways selected above  
    About GeneDecksing

    1 Sigma-Aldrich "Your Favorite Gene" Pathway for  CYP17A1  (Your Favorite Gene powered by Ingenuity) 
     C21-Steroid Hormone Metabolism

       GeneDecks  CYP17A1 for the pathways selected above  
    About GeneDecksing

    1 Kegg Pathway  (Kegg details for CYP17A1):
     hsa00140 C21-Steroid hormone metabolism

       GeneDecks  CYP17A1 for the pathways selected above  
    About GeneDecksing
    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 (ENSP000003589033) via UniProtKB, MINT, and/or STRING (see all 47 )

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PORENSP000002653023STRING (score=.995)
    POMCENSP000003701713STRING (score=.991)
    HSD3B1ENSP000003584213STRING (score=.973)
    HSD3B2ENSP000003584243STRING (score=.973)
    HSD17B3ENSP000003644123STRING (score=.972)
    About this table

    5 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006700 C21-steroid hormone biosynthetic process IEA--
    GO:0006704 glucocorticoid biosynthetic process IEA--
    GO:0007548 sex differentiation TAS9326943
    GO:0009636 response to toxin IEA--
    GO:0055114 oxidation reduction IEA--
    About this table
    (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)
    About This Section

    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)
    About this table


    (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

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (CYP17A1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (CYP17A1)
                  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  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , 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 )
    About This Section

    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


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    31789_at2, 3 U95-A 1 1.00 1.00 0.99 0.85 M14564 1.00 1.00 1.00 1

    90804_at2, 3 U95-D 1 1.00 1.00 0.42 0.43 AI269107 0.60 0.75 0.68 1
    586_s_at2, 3 U95-A 1 1.00 1.00 0.96 1.18 M31153 0.20 1.00 0.72 1

    205502_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000102 0.60 1.00 0.82 1

    205502_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    1562573_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  CYP17A1 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: GCCTGGCTGC

    SOURCE GeneReport for Unigene cluster: Hs.438016

    Expression variation in blood from EXPOLDB for CYP17A1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    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 more1, 5 74.75(n)1
    66.86(a)1
    130741  NM_007809.21  NP_031835.21 
     AK1328305  AK1343765  (see all 12)
    About this table        Species with no ortholog for CYP17A1

    ENSEMBL Gene Tree for CYP17A1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for CYP17A1 gene
    CYP21A22  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/130 NCBI SNPs in CYP17A1 are shown (see all 130 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 49)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 10 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs7435721,2
    A,C,F,H,O104587142(+) ACAGCA/GGTGGA 1 -- ut51 ese334Minor allele frequency- G:0.44NA EA MN EU WA CSAM NS 4195
    rs24867581,2
    C,F,H,O104587470(+) CCATGT/CTGCAA 1 -- ng3123Minor allele frequency- C:0.21NA MN EA EU WA CSAM NS 1918
    rs171151491,2
    C,F,H104587708(+) GGAACG/TAAAGG 1 -- ng3120Minor allele frequency- T:0.03NA EU EA WA NS 1556
    rs7625631,2
    C,F,H104587043(-) AGGTGC/GCCTGG 1 C/W mis1 ese310Minor allele frequency- G:0.00MN EU EA WA CSAM 1010
    --
    rs107867131,2
    A,C104588312(+) TGCACA/GTACTG 1 -- ng310--------
    rs171151441,2
    C,F104587298(+) GAGGYG/AGTGGG 1 -- ng3113Minor allele frequency- A:0.01NA MN CSAM EA NS 716
    --
    rs107867141,2
    A,C104588596(+) TGCATC/GTCCAT 1 -- ng310--------
    --
    rs341034891,2
    F104587297(-) CCACYG/ACCTCT 1 -- ng315Minor allele frequency- A:0.01MN CSAM EA 396
    --
    rs454554941,2
    F104580283(-) TTTTT-/TCCATA 1 -- ut315Minor allele frequency- T:0.01NS 184
    --
    rs171151251,2
    C104587122(-) CTGCCG/AGCACC 1 -- ut51 ese37Minor allele frequency- A:0.00MN EA NS 538
    About this table

    HapMap Linkage Disequilibrium images for CYP17A1 (up to first 250kb)

    (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.)
    About This Section

    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 is
    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)
  • 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)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/704 PubMed articles for CYP17A1 gene (see all 704 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    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, and/or H-InvDB)
    About This Section

    Entrez Gene: 1586 HGNC: 2593 AceView: CYP17A1 Ensembl:ENSG00000148795 euGenes: HUgn1586
    ECgene: CYP17A1 H-InvDB: CYP17A1
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    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.genetests.org/query?gene=CYP17A1
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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