Sequence of CP17A_HUMAN

17alpha-hydroxyprogesterone deacetylase

P05093

508

57371

1172026

Chung B.-C.,Picado-Leonard J.,Haniu M.,Bienkowski M.,Hall P.F.,Shively J.E.,Miller W.L.

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.

Proc. Natl. Acad. Sci. U.S.A.

84

407-411

1987

1172027

Picado-Leonard J.,Miller W.L.

Cloning and sequence of the human gene for P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): similarity with the gene for P450c21.

DNA

6

439-448

1987

1172028

Bradshaw K.D.,Waterman M.R.,Couch R.T.,Simpson E.R.,Zuber M.X.

Characterization of complementary deoxyribonucleic acid for human adrenocortical 17 alpha-hydroxylase: a probe for analysis of 17 alpha-hydroxylase deficiency.

Mol. Endocrinol.

1

348-354

1987

1172029

Brentano S.T.,Picado-Leonard J.,Mellon S.H.,Moore C.C.,Miller W.L.

Tissue-specific, cyclic adenosine 3',5'-monophosphate-induced, and phorbol ester-repressed transcription from the human P450c17 promoter in mouse cells.

Mol. Endocrinol.

4

1972-1979

1990

1172030

Kagimoto M.,Winter J.S.D.,Kagimoto K.,Simpson E.R.,Waterman M.R.

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.

Mol. Endocrinol.

2

564-570

1988

1172032

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.

The DNA sequence and comparative analysis of human chromosome 10.

Nature

429

375-381

2004

1172033

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

Genome Res.

14

2121-2127

2004

1172034

Auchus R.J.,Lee T.C.,Miller W.L.

Cytochrome b5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer.

J. Biol. Chem.

273

3158-3165

1998

1172035

Yoshimoto F.K.,Gonzalez E.,Auchus R.J.,Guengerich F.P.

Mechanism of 17alpha,20-Lyase and New Hydroxylation Reactions of Human Cytochrome P450 17A1: 18O LABELING AND OXYGEN SURROGATE EVIDENCE FOR A ROLE OF A PERFERRYL OXYGEN.

J. Biol. Chem.

291

17143-17164

2016

1172036

Auchus R.J.,Miller W.L.

Molecular modeling of human P450c17 (17alpha-hydroxylase/17,20-lyase): insights into reaction mechanisms and effects of mutations.

Mol. Endocrinol.

13

1169-1182

1999

1172037

DeVore N.M.,Scott E.E.

Structures of cytochrome P450 17A1 with prostate cancer drugs abiraterone and TOK-001.

Nature

482

116-119

2012

1172038

Petrunak E.M.,DeVore N.M.,Porubsky P.R.,Scott E.E.

Structures of human steroidogenic cytochrome P450 17A1 with substrates.

J. Biol. Chem.

289

32952-32964

2014

1172039

Yanase T.,Kagimoto M.,Suzuki S.,Hashiba K.,Simpson E.R.,Waterman M.R.

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.

J. Biol. Chem.

264

18076-18082

1989

1172040

Lin D.,Harikrishna J.A.,Moore C.C.D.,Jones K.L.,Miller W.L.

Missense mutation serine106-->proline causes 17 alpha-hydroxylase deficiency.

J. Biol. Chem.

266

15992-15998

1991

1172041

Yanase T.,Waterman M.R.,Zachmann M.,Winter J.S.D.,Kagimoto M.

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.

Biochim. Biophys. Acta

1139

275-279

1992

1172042

Ahlgren R.,Yanase T.,Simpson E.R.,Winter J.S.D.,Waterman M.R.

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.

J. Clin. Endocrinol. Metab.

74

667-672

1992

1172043

Imai T.,Globerman H.,Gertner J.M.,Kagawa N.,Waterman M.R.

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.

J. Biol. Chem.

268

19681-19689

1993

1172044

Monno S.,Ogawa H.,Date T.,Fujioka M.,Miller W.L.,Kobayashi M.

Mutation of histidine 373 to leucine in cytochrome P450c17 causes 17 alpha-hydroxylase deficiency.

J. Biol. Chem.

268

25811-25817

1993

1172045

Fardella C.E.,Zhang L.H.,Mahacholklertwattana P.,Lin D.,Miller W.L.

Deletion of amino acids Asp487-Ser488-Phe489 in human cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency.

J. Clin. Endocrinol. Metab.

77

489-493

1993

1172046

Fardella C.E.,Hum D.W.,Homoki J.,Miller W.L.

Point mutation of Arg440 to His in cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency.

J. Clin. Endocrinol. Metab.

79

160-164

1994

1172047

Laflamme N.,Leblanc J.-F.,Mailloux J.,Faure N.,Labrie F.,Simard J.

Mutation R96W in cytochrome P450c17 gene causes combined 17 alpha-hydroxylase/17-20-lyase deficiency in two French Canadian patients.

J. Clin. Endocrinol. Metab.

81

264-268

1996

1172049

Biason-Lauber A.,Kempken B.,Werder E.,Forest M.G.,Einaudi S.,Ranke M.B.,Matsuo N.,Brunelli V.,Schoenle E.J.,Zachmann M.

17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation.

J. Clin. Endocrinol. Metab.

85

1226-1231

2000

1172050

Gupta M.K.,Geller D.H.,Auchus R.J.

Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency.

J. Clin. Endocrinol. Metab.

86

4416-4423

2001

1172051

Di Cerbo A.,Biason-Lauber A.,Savino M.,Piemontese M.R.,Di Giorgio A.,Perona M.,Savoia A.

Combined 17alpha-hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene.

J. Clin. Endocrinol. Metab.

87

898-905

2002

1172052

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.

Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency.

J. Clin. Endocrinol. Metab.

87

5714-5721

2002

1172053

Martin R.M.,Lin C.J.,Costa E.M.F.,de Oliveira M.L.,Carrilho A.,Villar H.,Longui C.A.,Mendonca B.B.

P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping.

J. Clin. Endocrinol. Metab.

88

5739-5746

2003

1172054

Katsumata N.,Ogawa E.,Fujiwara I.,Fujikura K.

Novel CYP17A1 mutation in a Japanese patient with combined 17alpha-hydroxylase/17,20-lyase deficiency.

Metabolism

59

275-278

2010

1172055

Mula-Abed W.A.,Pambinezhuth F.B.,Al-Kindi M.K.,Al-Busaidi N.B.,Al-Muslahi H.N.,Al-Lamki M.A.

Congenital adrenal hyperplasia due to 17-alpha-hydoxylase/17,20-lyase deficiency presenting with hypertension and pseudohermaphroditism: first case report from Oman.

Oman Med. J.

29

55-59

2014

1172056

Kim Y.M.,Kang M.,Choi J.H.,Lee B.H.,Kim G.H.,Ohn J.H.,Kim S.Y.,Park M.S.,Yoo H.W.

A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation.

Metabolism

63

42-49

2014

1172057

Rubtsov P.,Nizhnik A.,Dedov I.I.,Kalinchenko N.,Petrov V.,Orekhova A.,Spirin P.,Prassolov V.,Tiulpakov A.

Partial deficiency of 17alpha-hydroxylase/17,20-lyase caused by a novel missense mutation in the canonical cytochrome heme-interacting motif.

Eur. J. Endocrinol.

172

0-25

2015