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P05093

- CP17A_HUMAN

UniProt

P05093 - CP17A_HUMAN

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Protein
Steroid 17-alpha-hydroxylase/17,20 lyase
Gene
CYP17A1, CYP17, S17AH
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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. Leydig cell differentiation Source: Ensembl
  2. adrenal gland development Source: Ensembl
  3. androgen biosynthetic process Source: Reactome
  4. biphenyl metabolic process Source: Ensembl
  5. cellular response to antibiotic Source: Ensembl
  6. cellular response to gonadotropin stimulus Source: Ensembl
  7. cellular response to lipopolysaccharide Source: Ensembl
  8. dibenzo-p-dioxin metabolic process Source: Ensembl
  9. glucocorticoid biosynthetic process Source: Reactome
  10. hippocampus development Source: Ensembl
  11. hormone biosynthetic process Source: UniProtKB
  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
Complete GO annotation...

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 Reviewed prediction

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
Complete GO annotation...

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).
Note: The disease is caused by mutations affecting the gene represented in this entry.15 Publications
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.
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 lyase
PRO_0000051931Add
BLAST

Post-translational modificationi

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

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

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.

Family & Domainsi

Sequence similaritiesi

Belongs to the cytochrome P450 family.

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.
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 168 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

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