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P05093

- CP17A_HUMAN

UniProt

P05093 - CP17A_HUMAN

Protein

Steroid 17-alpha-hydroxylase/17,20 lyase

Gene

CYP17A1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 169 (01 Oct 2014)
      Sequence version 1 (13 Aug 1987)
      Previous versions | rss
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    Functioni

    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.1 Publication

    Catalytic activityi

    A C(21)-steroid + (reduced NADPH--hemoprotein reductase) + O2 = a 17-alpha-hydroxy-C(21)-steroid + (oxidized NADPH--hemoprotein reductase) + H2O.1 Publication
    17-alpha-hydroxyprogesterone = androst-4-ene-3,17-dione + acetaldehyde.1 Publication

    Cofactori

    Heme group.1 Publication

    Enzyme regulationi

    Regulated predominantly by intracellular cAMP levels.

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi442 – 4421Iron (heme axial ligand)

    GO - Molecular functioni

    1. 17-alpha-hydroxyprogesterone aldolase activity Source: UniProtKB-EC
    2. heme binding Source: UniProtKB
    3. iron ion binding Source: InterPro
    4. oxygen binding Source: ProtInc
    5. steroid 17-alpha-monooxygenase activity Source: UniProtKB

    GO - Biological processi

    1. adrenal gland development Source: Ensembl
    2. androgen biosynthetic process Source: Reactome
    3. biphenyl metabolic process Source: Ensembl
    4. cellular response to antibiotic Source: Ensembl
    5. cellular response to gonadotropin stimulus Source: Ensembl
    6. cellular response to lipopolysaccharide Source: Ensembl
    7. dibenzo-p-dioxin metabolic process Source: Ensembl
    8. glucocorticoid biosynthetic process Source: Reactome
    9. hippocampus development Source: Ensembl
    10. hormone biosynthetic process Source: UniProtKB
    11. Leydig cell differentiation Source: Ensembl
    12. ovulation Source: Ensembl
    13. phenol-containing compound metabolic process Source: Ensembl
    14. phthalate metabolic process Source: Ensembl
    15. positive regulation of steroid hormone biosynthetic process Source: Ensembl
    16. progesterone metabolic process Source: UniProtKB
    17. response to acetate Source: Ensembl
    18. response to cAMP Source: Ensembl
    19. response to cytokine Source: Ensembl
    20. response to drug Source: Ensembl
    21. response to fungicide Source: Ensembl
    22. response to herbicide Source: Ensembl
    23. response to insecticide Source: Ensembl
    24. response to ionizing radiation Source: Ensembl
    25. response to methylmercury Source: Ensembl
    26. response to nutrient levels Source: Ensembl
    27. response to retinoic acid Source: Ensembl
    28. response to steroid hormone Source: Ensembl
    29. sex differentiation Source: ProtInc
    30. small molecule metabolic process Source: Reactome
    31. steroid biosynthetic process Source: ProtInc
    32. steroid metabolic process Source: UniProtKB
    33. sterol metabolic process Source: Reactome
    34. xenobiotic metabolic process Source: Reactome

    Keywords - Molecular functioni

    Lyase, Monooxygenase, Oxidoreductase

    Keywords - Biological processi

    Steroidogenesis

    Keywords - Ligandi

    Heme, Iron, Metal-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:HS07560-MONOMER.
    ReactomeiREACT_11036. Glucocorticoid biosynthesis.
    REACT_11059. Androgen biosynthesis.
    REACT_13812. Endogenous sterols.
    SABIO-RKP05093.
    UniPathwayiUPA00062.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Steroid 17-alpha-hydroxylase/17,20 lyase (EC:1.14.99.9, EC:4.1.2.30)
    Alternative name(s):
    17-alpha-hydroxyprogesterone aldolase
    CYPXVII
    Cytochrome P450 17A1
    Cytochrome P450-C17
    Short name:
    Cytochrome P450c17
    Steroid 17-alpha-monooxygenase
    Gene namesi
    Name:CYP17A1
    Synonyms:CYP17, S17AH
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:2593. CYP17A1.

    Subcellular locationi

    Membrane Curated

    GO - Cellular componenti

    1. axon Source: Ensembl
    2. endoplasmic reticulum Source: ProtInc
    3. endoplasmic reticulum membrane Source: Reactome
    4. mitochondrion Source: Ensembl
    5. neuronal cell body Source: Ensembl

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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).15 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti35 – 351P → L in AH5; 38% 17alpha-hydroxylase activity and 33% 17,20-lyase activity. 1 Publication
    VAR_022745
    Natural varianti53 – 531Missing in AH5; 10% 17alpha-hydroxylase activity and 13% 17,20-lyase activity. 2 Publications
    VAR_001270
    Natural varianti64 – 641Y → S in AH5. 1 Publication
    VAR_001271
    Natural varianti93 – 931F → C in AH5. 1 Publication
    VAR_013147
    Natural varianti96 – 961R → W in AH5; 25% of both 17alpha-hydroxylase and 17,20-lyase activities. 3 Publications
    VAR_022746
    Natural varianti106 – 1061S → P in AH5. 1 Publication
    VAR_001272
    Natural varianti112 – 1121I → II in AH5. 1 Publication
    VAR_001273
    Natural varianti114 – 1141F → V in AH5. 1 Publication
    VAR_022747
    Natural varianti116 – 1161D → V in AH5. 1 Publication
    VAR_022748
    Natural varianti177 – 1771N → D in AH5; 10% 17alpha-hydroxylase and 17,20-lyase activities. 1 Publication
    VAR_022749
    Natural varianti329 – 3291Y → D in AH5. 1 Publication
    Corresponds to variant rs104894144 [ dbSNP | Ensembl ].
    VAR_022750
    Natural varianti330 – 3301Missing in AH5; complete loss of both 17alpha-hydroxylase and 17,20-lyase activities. 1 Publication
    VAR_022751
    Natural varianti342 – 3421P → T in AH5. 1 Publication
    VAR_001274
    Natural varianti347 – 3471R → C in AH5. 1 Publication
    VAR_022752
    Natural varianti347 – 3471R → H in AH5; selectively ablates 17,20-lyase activity, while preserving most 17alpha-hydroxylase activity. 3 Publications
    VAR_001275
    Natural varianti358 – 3581R → Q in AH5; selectively ablates 17,20-lyase activity, while preserving most 17alpha-hydroxylase activity. 2 Publications
    VAR_001276
    Natural varianti362 – 3621R → C in AH5. 1 Publication
    VAR_022753
    Natural varianti373 – 3731H → L in AH5. 1 Publication
    VAR_001277
    Natural varianti406 – 4061W → R in AH5. 1 Publication
    VAR_022754
    Natural varianti417 – 4171F → C in AH5; ablates both 17,20-lyase activity and 17alpha-hydroxylase activity; loss of heme-binding and loss of phosphorylation. 2 Publications
    VAR_022755
    Natural varianti428 – 4281P → L in AH5. 1 Publication
    VAR_022756
    Natural varianti440 – 4401R → H in AH5. 1 Publication
    VAR_001278
    Natural varianti487 – 4893Missing in AH5. 1 Publication
    VAR_001279
    Natural varianti496 – 4961R → C in AH5. 1 Publication
    VAR_001280
    Natural varianti496 – 4961R → H in AH5; 30% 17alpha-hydroxylase activity and 29% 17,20-lyase activity. 1 Publication
    VAR_022757

    Keywords - Diseasei

    Congenital adrenal hyperplasia, Disease mutation

    Organism-specific databases

    MIMi202110. phenotype.
    Orphaneti90796. 46,XY disorder of sex development due to isolated 17, 20 lyase deficiency.
    90793. Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency.
    PharmGKBiPA27090.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 508508Steroid 17-alpha-hydroxylase/17,20 lyasePRO_0000051931Add
    BLAST

    Post-translational modificationi

    Phosphorylation is necessary for 17,20-lyase, but not for 17-alpha-hydroxylase activity.1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiP05093.
    PRIDEiP05093.

    PTM databases

    PhosphoSiteiP05093.

    Expressioni

    Gene expression databases

    ArrayExpressiP05093.
    BgeeiP05093.
    CleanExiHS_CYP17A1.
    GenevestigatoriP05093.

    Organism-specific databases

    HPAiHPA048533.

    Interactioni

    Protein-protein interaction databases

    BioGridi107958. 7 interactions.
    IntActiP05093. 6 interactions.
    STRINGi9606.ENSP00000358903.

    Structurei

    Secondary structure

    1
    508
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi36 – 427
    Helixi49 – 557
    Helixi57 – 604
    Beta strandi62 – 687
    Beta strandi71 – 766
    Helixi79 – 868
    Turni87 – 937
    Helixi100 – 1056
    Turni106 – 1094
    Beta strandi111 – 1155
    Helixi119 – 13113
    Turni132 – 1354
    Beta strandi136 – 1383
    Helixi142 – 15918
    Turni160 – 1623
    Beta strandi163 – 1653
    Helixi168 – 18417
    Helixi194 – 20916
    Beta strandi211 – 2144
    Helixi220 – 2223
    Helixi228 – 25023
    Turni251 – 2533
    Helixi262 – 27110
    Helixi285 – 2873
    Helixi289 – 32032
    Helixi322 – 33514
    Beta strandi338 – 3403
    Helixi344 – 3485
    Helixi351 – 36313
    Beta strandi376 – 3816
    Beta strandi384 – 3863
    Beta strandi391 – 3944
    Helixi396 – 4016
    Turni403 – 4053
    Beta strandi406 – 4083
    Helixi414 – 4174
    Beta strandi422 – 4254
    Helixi438 – 4403
    Helixi445 – 46218
    Beta strandi463 – 4664
    Beta strandi479 – 4857
    Beta strandi491 – 4955
    Helixi497 – 5015

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2C17model-A48-501[»]
    3RUKX-ray2.60A/B/C/D24-508[»]
    3SWZX-ray2.40A/B/C/D24-508[»]
    ProteinModelPortaliP05093.
    SMRiP05093. Positions 31-503.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the cytochrome P450 family.Curated

    Phylogenomic databases

    eggNOGiCOG2124.
    HOGENOMiHOG000036991.
    HOVERGENiHBG106944.
    InParanoidiP05093.
    KOiK00512.
    OMAiQELFLIM.
    OrthoDBiEOG7RBZ85.
    PhylomeDBiP05093.
    TreeFamiTF105095.

    Family and domain databases

    Gene3Di1.10.630.10. 1 hit.
    InterProiIPR001128. Cyt_P450.
    IPR017972. Cyt_P450_CS.
    IPR002401. Cyt_P450_E_grp-I.
    [Graphical view]
    PfamiPF00067. p450. 1 hit.
    [Graphical view]
    PRINTSiPR00463. EP450I.
    PR00385. P450.
    SUPFAMiSSF48264. SSF48264. 1 hit.
    PROSITEiPS00086. CYTOCHROME_P450. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P05093-1 [UniParc]FASTAAdd to Basket

    « Hide

    MWELVALLLL TLAYLFWPKR RCPGAKYPKS LLSLPLVGSL PFLPRHGHMH    50
    NNFFKLQKKY GPIYSVRMGT KTTVIVGHHQ LAKEVLIKKG KDFSGRPQMA 100
    TLDIASNNRK GIAFADSGAH WQLHRRLAMA TFALFKDGDQ KLEKIICQEI 150
    STLCDMLATH NGQSIDISFP VFVAVTNVIS LICFNTSYKN GDPELNVIQN 200
    YNEGIIDNLS KDSLVDLVPW LKIFPNKTLE KLKSHVKIRN DLLNKILENY 250
    KEKFRSDSIT NMLDTLMQAK MNSDNGNAGP DQDSELLSDN HILTTIGDIF 300
    GAGVETTTSV VKWTLAFLLH NPQVKKKLYE EIDQNVGFSR TPTISDRNRL 350
    LLLEATIREV LRLRPVAPML IPHKANVDSS IGEFAVDKGT EVIINLWALH 400
    HNEKEWHQPD QFMPERFLNP AGTQLISPSV SYLPFGAGPR SCIGEILARQ 450
    ELFLIMAWLL QRFDLEVPDD GQLPSLEGIP KVVFLIDSFK VKIKVRQAWR 500
    EAQAEGST 508
    Length:508
    Mass (Da):57,371
    Last modified:August 13, 1987 - v1
    Checksum:iE5454E9E18F96B0E
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti22 – 221C → W.
    Corresponds to variant rs762563 [ dbSNP | Ensembl ].
    VAR_011755
    Natural varianti35 – 351P → L in AH5; 38% 17alpha-hydroxylase activity and 33% 17,20-lyase activity. 1 Publication
    VAR_022745
    Natural varianti53 – 531Missing in AH5; 10% 17alpha-hydroxylase activity and 13% 17,20-lyase activity. 2 Publications
    VAR_001270
    Natural varianti64 – 641Y → S in AH5. 1 Publication
    VAR_001271
    Natural varianti93 – 931F → C in AH5. 1 Publication
    VAR_013147
    Natural varianti96 – 961R → W in AH5; 25% of both 17alpha-hydroxylase and 17,20-lyase activities. 3 Publications
    VAR_022746
    Natural varianti106 – 1061S → P in AH5. 1 Publication
    VAR_001272
    Natural varianti112 – 1121I → II in AH5. 1 Publication
    VAR_001273
    Natural varianti114 – 1141F → V in AH5. 1 Publication
    VAR_022747
    Natural varianti116 – 1161D → V in AH5. 1 Publication
    VAR_022748
    Natural varianti177 – 1771N → D in AH5; 10% 17alpha-hydroxylase and 17,20-lyase activities. 1 Publication
    VAR_022749
    Natural varianti329 – 3291Y → D in AH5. 1 Publication
    Corresponds to variant rs104894144 [ dbSNP | Ensembl ].
    VAR_022750
    Natural varianti330 – 3301Missing in AH5; complete loss of both 17alpha-hydroxylase and 17,20-lyase activities. 1 Publication
    VAR_022751
    Natural varianti342 – 3421P → T in AH5. 1 Publication
    VAR_001274
    Natural varianti347 – 3471R → C in AH5. 1 Publication
    VAR_022752
    Natural varianti347 – 3471R → H in AH5; selectively ablates 17,20-lyase activity, while preserving most 17alpha-hydroxylase activity. 3 Publications
    VAR_001275
    Natural varianti358 – 3581R → Q in AH5; selectively ablates 17,20-lyase activity, while preserving most 17alpha-hydroxylase activity. 2 Publications
    VAR_001276
    Natural varianti362 – 3621R → C in AH5. 1 Publication
    VAR_022753
    Natural varianti373 – 3731H → L in AH5. 1 Publication
    VAR_001277
    Natural varianti406 – 4061W → R in AH5. 1 Publication
    VAR_022754
    Natural varianti417 – 4171F → C in AH5; ablates both 17,20-lyase activity and 17alpha-hydroxylase activity; loss of heme-binding and loss of phosphorylation. 2 Publications
    VAR_022755
    Natural varianti428 – 4281P → L in AH5. 1 Publication
    VAR_022756
    Natural varianti440 – 4401R → H in AH5. 1 Publication
    VAR_001278
    Natural varianti487 – 4893Missing in AH5. 1 Publication
    VAR_001279
    Natural varianti496 – 4961R → C in AH5. 1 Publication
    VAR_001280
    Natural varianti496 – 4961R → H in AH5; 30% 17alpha-hydroxylase activity and 29% 17,20-lyase activity. 1 Publication
    VAR_022757

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M14564 mRNA. Translation: AAA52151.1.
    M19489 Genomic DNA. Translation: AAA36405.1.
    M63871 Genomic DNA. Translation: AAA59984.1.
    M31153
    , M31146, M31147, M31148, M31149, M31150, M31151, M31152 Genomic DNA. Translation: AAA52140.1. Sequence problems.
    BT020000 mRNA. Translation: AAV38803.1.
    AL358790 Genomic DNA. Translation: CAI52498.1.
    BC062997 mRNA. Translation: AAH62997.1.
    BC063388 mRNA. Translation: AAH63388.1.
    CCDSiCCDS7541.1.
    PIRiA40921. A26366.
    RefSeqiNP_000093.1. NM_000102.3.
    UniGeneiHs.438016.

    Genome annotation databases

    EnsembliENST00000369887; ENSP00000358903; ENSG00000148795.
    GeneIDi1586.
    KEGGihsa:1586.
    UCSCiuc001kwg.3. human.

    Polymorphism databases

    DMDMi117283.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    SHMPD

    The Singapore human mutation and polymorphism database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M14564 mRNA. Translation: AAA52151.1 .
    M19489 Genomic DNA. Translation: AAA36405.1 .
    M63871 Genomic DNA. Translation: AAA59984.1 .
    M31153
    , M31146 , M31147 , M31148 , M31149 , M31150 , M31151 , M31152 Genomic DNA. Translation: AAA52140.1 . Sequence problems.
    BT020000 mRNA. Translation: AAV38803.1 .
    AL358790 Genomic DNA. Translation: CAI52498.1 .
    BC062997 mRNA. Translation: AAH62997.1 .
    BC063388 mRNA. Translation: AAH63388.1 .
    CCDSi CCDS7541.1.
    PIRi A40921. A26366.
    RefSeqi NP_000093.1. NM_000102.3.
    UniGenei Hs.438016.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2C17 model - A 48-501 [» ]
    3RUK X-ray 2.60 A/B/C/D 24-508 [» ]
    3SWZ X-ray 2.40 A/B/C/D 24-508 [» ]
    ProteinModelPortali P05093.
    SMRi P05093. Positions 31-503.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107958. 7 interactions.
    IntActi P05093. 6 interactions.
    STRINGi 9606.ENSP00000358903.

    Chemistry

    BindingDBi P05093.
    ChEMBLi CHEMBL3522.
    DrugBanki DB00157. NADH.
    DB00396. Progesterone.
    GuidetoPHARMACOLOGYi 1361.

    PTM databases

    PhosphoSitei P05093.

    Polymorphism databases

    DMDMi 117283.

    Proteomic databases

    PaxDbi P05093.
    PRIDEi P05093.

    Protocols and materials databases

    DNASUi 1586.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000369887 ; ENSP00000358903 ; ENSG00000148795 .
    GeneIDi 1586.
    KEGGi hsa:1586.
    UCSCi uc001kwg.3. human.

    Organism-specific databases

    CTDi 1586.
    GeneCardsi GC10M104580.
    HGNCi HGNC:2593. CYP17A1.
    HPAi HPA048533.
    MIMi 202110. phenotype.
    609300. gene.
    neXtProti NX_P05093.
    Orphaneti 90796. 46,XY disorder of sex development due to isolated 17, 20 lyase deficiency.
    90793. Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency.
    PharmGKBi PA27090.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2124.
    HOGENOMi HOG000036991.
    HOVERGENi HBG106944.
    InParanoidi P05093.
    KOi K00512.
    OMAi QELFLIM.
    OrthoDBi EOG7RBZ85.
    PhylomeDBi P05093.
    TreeFami TF105095.

    Enzyme and pathway databases

    UniPathwayi UPA00062 .
    BioCyci MetaCyc:HS07560-MONOMER.
    Reactomei REACT_11036. Glucocorticoid biosynthesis.
    REACT_11059. Androgen biosynthesis.
    REACT_13812. Endogenous sterols.
    SABIO-RK P05093.

    Miscellaneous databases

    ChiTaRSi CYP17A1. human.
    GeneWikii CYP17A1.
    GenomeRNAii 1586.
    NextBioi 6519.
    PROi P05093.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P05093.
    Bgeei P05093.
    CleanExi HS_CYP17A1.
    Genevestigatori P05093.

    Family and domain databases

    Gene3Di 1.10.630.10. 1 hit.
    InterProi IPR001128. Cyt_P450.
    IPR017972. Cyt_P450_CS.
    IPR002401. Cyt_P450_E_grp-I.
    [Graphical view ]
    Pfami PF00067. p450. 1 hit.
    [Graphical view ]
    PRINTSi PR00463. EP450I.
    PR00385. P450.
    SUPFAMi SSF48264. SSF48264. 1 hit.
    PROSITEi PS00086. CYTOCHROME_P450. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cytochrome P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues."
      Chung B.-C., Picado-Leonard J., Haniu M., Bienkowski M., Hall P.F., Shively J.E., Miller W.L.
      Proc. Natl. Acad. Sci. U.S.A. 84:407-411(1987) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Cloning and sequence of the human gene for P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): similarity with the gene for P450c21."
      Picado-Leonard J., Miller W.L.
      DNA 6:439-448(1987) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "Characterization of complementary deoxyribonucleic acid for human adrenocortical 17 alpha-hydroxylase: a probe for analysis of 17 alpha-hydroxylase deficiency."
      Bradshaw K.D., Waterman M.R., Couch R.T., Simpson E.R., Zuber M.X.
      Mol. Endocrinol. 1:348-354(1987) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    4. "Tissue-specific, cyclic adenosine 3',5'-monophosphate-induced, and phorbol ester-repressed transcription from the human P450c17 promoter in mouse cells."
      Brentano S.T., Picado-Leonard J., Mellon S.H., Moore C.C., Miller W.L.
      Mol. Endocrinol. 4:1972-1979(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    5. "Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase/17,20 lyase deficiency."
      Kagimoto M., Winter J.S.D., Kagimoto K., Simpson E.R., Waterman M.R.
      Mol. Endocrinol. 2:564-570(1988) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    6. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    7. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    9. "Molecular modeling of human P450c17 (17alpha-hydroxylase/17,20-lyase): insights into reaction mechanisms and effects of mutations."
      Auchus R.J., Miller W.L.
      Mol. Endocrinol. 13:1169-1182(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: 3D-STRUCTURE MODELING OF 48-501.
    10. "Structures of cytochrome P450 17A1 with prostate cancer drugs abiraterone and TOK-001."
      DeVore N.M., Scott E.E.
      Nature 482:116-119(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS) OF 24-508 IN COMPLEXES WITH HEME; ABIRATERONE AND TOK-001, FUNCTION, CATALYTIC ACTIVITY, COFACTOR.
    11. "Deletion of a phenylalanine in the N-terminal region of human cytochrome P-450(17 alpha) results in partial combined 17 alpha-hydroxylase/17,20-lyase deficiency."
      Yanase T., Kagimoto M., Suzuki S., Hashiba K., Simpson E.R., Waterman M.R.
      J. Biol. Chem. 264:18076-18082(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT AH5 PHE-53 DEL.
    12. "Missense mutation serine106-->proline causes 17 alpha-hydroxylase deficiency."
      Lin D., Harikrishna J.A., Moore C.C.D., Jones K.L., Miller W.L.
      J. Biol. Chem. 266:15992-15998(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT AH5 PRO-106.
    13. "Molecular basis of apparent isolated 17,20-lyase deficiency: compound heterozygous mutations in the C-terminal region (Arg(496)-->Cys, Gln(461)-->Stop) actually cause combined 17 alpha-hydroxylase/17,20-lyase deficiency."
      Yanase T., Waterman M.R., Zachmann M., Winter J.S.D., Kagimoto M.
      Biochim. Biophys. Acta 1139:275-279(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT AH5 CYS-496.
    14. "Compound heterozygous mutations (Arg 239-->Stop, Pro 342-->Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency."
      Ahlgren R., Yanase T., Simpson E.R., Winter J.S.D., Waterman M.R.
      J. Clin. Endocrinol. Metab. 74:667-672(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT AH5 THR-342.
    15. "Expression and purification of functional human 17 alpha-hydroxylase/17,20-lyase (P450c17) in Escherichia coli. Use of this system for study of a novel form of combined 17 alpha-hydroxylase/17,20-lyase deficiency."
      Imai T., Globerman H., Gertner J.M., Kagawa N., Waterman M.R.
      J. Biol. Chem. 268:19681-19689(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS AH5 SER-64 AND ILE-112 INS.
    16. "Mutation of histidine 373 to leucine in cytochrome P450c17 causes 17 alpha-hydroxylase deficiency."
      Monno S., Ogawa H., Date T., Fujioka M., Miller W.L., Kobayashi M.
      J. Biol. Chem. 268:25811-25817(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT AH5 LEU-373.
    17. "Deletion of amino acids Asp487-Ser488-Phe489 in human cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency."
      Fardella C.E., Zhang L.H., Mahacholklertwattana P., Lin D., Miller W.L.
      J. Clin. Endocrinol. Metab. 77:489-493(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT AH5 487-ASP--PHE-489 DEL.
    18. "Point mutation of Arg440 to His in cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency."
      Fardella C.E., Hum D.W., Homoki J., Miller W.L.
      J. Clin. Endocrinol. Metab. 79:160-164(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT AH5 HIS-440.
    19. "Mutation R96W in cytochrome P450c17 gene causes combined 17 alpha-hydroxylase/17-20-lyase deficiency in two French Canadian patients."
      Laflamme N., Leblanc J.-F., Mailloux J., Faure N., Labrie F., Simard J.
      J. Clin. Endocrinol. Metab. 81:264-268(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT AH5 TRP-96.
    20. "The molecular basis of isolated 17,20 lyase deficiency."
      Geller D.H., Mendonca B.B., Miller W.L.
      Pediatr. Res. 39:89A-89A(1996)
      Cited for: VARIANTS AH5 HIS-347 AND GLN-358.
    21. "17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation."
      Biason-Lauber A., Kempken B., Werder E., Forest M.G., Einaudi S., Ranke M.B., Matsuo N., Brunelli V., Schoenle E.J., Zachmann M.
      J. Clin. Endocrinol. Metab. 85:1226-1231(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS AH5 LEU-35; PHE-53 DEL; TRP-96; ASP-177; GLU-330 DEL; CYS-417 AND HIS-496, PHOSPHORYLATION.
    22. "Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency."
      Gupta M.K., Geller D.H., Auchus R.J.
      J. Clin. Endocrinol. Metab. 86:4416-4423(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS AH5 HIS-347; GLN-358 AND CYS-417.
    23. "Combined 17alpha-hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene."
      Di Cerbo A., Biason-Lauber A., Savino M., Piemontese M.R., Di Giorgio A., Perona M., Savoia A.
      J. Clin. Endocrinol. Metab. 87:898-905(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT AH5 CYS-93.
    24. "Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency."
      Van Den Akker E.L.T., Koper J.W., Boehmer A.L.M., Themmen A.P.N., Verhoef-Post M., Timmerman M.A., Otten B.J., Drop S.L.S., De Jong F.H.
      J. Clin. Endocrinol. Metab. 87:5714-5721(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS AH5 VAL-114; VAL-116; CYS-347 AND HIS-347.
    25. "P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping."
      Martin R.M., Lin C.J., Costa E.M.F., de Oliveira M.L., Carrilho A., Villar H., Longui C.A., Mendonca B.B.
      J. Clin. Endocrinol. Metab. 88:5739-5746(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS AH5 TRP-96; ASP-329; CYS-362; ARG-406 AND LEU-428.

    Entry informationi

    Entry nameiCP17A_HUMAN
    AccessioniPrimary (citable) accession number: P05093
    Secondary accession number(s): Q5TZV7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 13, 1987
    Last sequence update: August 13, 1987
    Last modified: October 1, 2014
    This is version 169 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 10
      Human chromosome 10: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3