Reference on EC 1.14.14.16 - steroid 21-monooxygenase and Organism(s) Homo sapiens
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AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Higashi, Y; Yoshioka, H.; Yamane, M.; Gotoh, O.; Fuji-Kuriyama, Y.
complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosomes: a pseudogene and a genuine gene
Proc. Natl. Acad. Sci. USA
83
2841-2845
1986
Homo sapiens
Barbaro, M.; Lajic, S.; Baldazzi, L.; Balsamo, A.; Pirazzoli, P.; Cicognani, A.; Wedell, A.; Cacciari, E.
Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia
J. Clin. Endocrinol. Metab.
89
2402-2407
2004
Homo sapiens
Felix-Lopez, X.; Riba, L.; Ordonez-Sanchez, M.L.; Ramirez-Jimenez, S.; Ventura-Gallegos, J.L.; Zentella-Dehesa, A.; Tusie-Luna, M.T.
Steroid 21-hydroxylase (P450c21) naturally occurring mutants I172N, V281L and I236N/V237E/M239K exert a dominant negative effect on enzymatic activity when co-expressed with the wild-type protein
J. Pediatr. Endocrinol. Metab.
16
1017-1024
2003
Homo sapiens
Miguel, R.N.; Chen, S.; Nikfarjam, L.; Kominami, S.; Carpenter, B.; Dal Pra, C.; Betterle, C.; Zanchetta, R.; Nakamatsu, T.; Powell, M.; Hewer, R.; Blundell, T.L.; Smith, B.R.; Furmaniak, J.
Analysis of the interaction between human steroid 21-hydroxylase and various monoclonal antibodies using comparative structural modelling
Eur. J. Endocrinol.
153
949-961
2005
Homo sapiens
Dolzan, V.; Solyom, J.; Fekete, G.; Kovacs, J.; Rakosnikova, V.; Votava, F.; Lebl, J.; Pribilincova, Z.; Baumgartner-Parzer, S.M.; Riedl, S.; Waldhauser, F.; Frisch, H.; Stopar-Obreza, M.; Krzisnik, C.; Battelino, T.
Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia
Eur. J. Endocrinol.
153
99-106
2005
Homo sapiens
Krone, N.; Riepe, F.G.; Groetzinger, J.; Partsch, C.; Braemswig, J.; Sippell, W.G.
The residue E351 is essential for the activity of human 21-hydroxylase: evidence from a naturally occurring novel point mutation compared with artificial mutants generated by single amino acid substitutions
J. Mol. Med.
83
561-568
2005
Homo sapiens
Barbaro, M.; Baldazzi, L.; Balsamo, A.; Lajic, S.; Robins, T.; Barp, L.; Pirazzoli, P.; Cacciari, E.; Cicognani, A.; Wedell, A.
Functional studies of two novel and two rare mutations in the 21-hydroxylase gene
J. Mol. Med.
84
521-528
2006
Homo sapiens
Trinh, L.; Nimkarn, S.; New, M.I.; Lin-Su, K.
Growth and pubertal characteristics in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
J. Pediatr. Endocrinol. Metab.
20
883-891
2007
Homo sapiens
Soardi, F.C.; Lemos-Marini, S.H.; Coeli, F.B.; Maturana, V.G.; Silva, M.D.; Bernardi, R.D.; Justo, G.Z.; de-Mello, M.P.
Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening
Arq. Bras. Endocrinol. Metabol.
52
1388-1392
2008
Homo sapiens
Concolino, P.; Mello, E.; Minucci, A.; Giardina, E.; Zuppi, C.; Toscano, V.; Capoluongo, E.
A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form
BMC Med. Genet.
10
72
2009
Homo sapiens (P08686), Homo sapiens
Ono, M.; Kashimada, K.; Miyai, K.; Onishi, T.; Takagi, M.; Honma, S.; Mizutani, S.
In vitro enzyme assay of CYP21A2 mutation (R483Q) by a novel method using liquid chromatography-electrospray ionization tandem mass spectrometry (LC-ESI-MS/MS)
Clin. Pediatr. Endocrinol.
17
49-56
2008
Homo sapiens
Marques, C.J.; Pignatelli, D.; Carvalho, B.; Barcelo, J.; Almeida, A.C.; Fernandes, S.; Witchel, S.F.; Sousa, M.; Oliveira, M.J.; Freitas, P.; Fontoura, M.; Carvalho, D.; Barros, A.; Carvalho, F.
Mutational characterization of steroid 21-hydroxylase gene in Portuguese patients with congenital adrenal hyperplasia
Exp. Clin. Endocrinol. Diabetes
118
505-512
2010
Homo sapiens (P08686), Homo sapiens
Bleicken, C.; Loidi, L.; Dhir, V.; Parajes, S.; Quinteiro, C.; Dominguez, F.; Groetzinger, J.; Sippell, W.G.; Riepe, F.G.; Arlt, W.; Krone, N.
Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system
Hum. Mutat.
30
E443-E450
2009
Homo sapiens
Bratland, E.; Bredholt, G.; Mellgren, G.; Knappskog, P.M.; Mozes, E.; Husebye, E.S.
The purification and application of biologically active recombinant steroid cytochrome P450 21-hydroxylase: the major autoantigen in autoimmune Addisons disease
J. Autoimmun.
33
58-67
2009
Homo sapiens (P08686), Homo sapiens
Dubey, S.; Idicula-Thomas, S.; Anwaruddin, M.; Saravanan, C.; Varma, R.R.; Maitra, A.
A novel 9-bp insertion detected in steroid 21-hydroxylase gene (CYP21A2): prediction of its structural and functional implications by computational methods
J. Biomed. Sci.
16
3-3
2009
Homo sapiens (P08686), Homo sapiens
Riepe, F.G.; Hiort, O.; Groetzinger, J.; Sippell, W.G.; Krone, N.; Holterhus, P.M.
Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction
J. Clin. Endocrinol. Metab.
93
2891-2895
2008
Homo sapiens
Bratland, E.; Skinningsrud, B.; Undlien, D.E.; Mozes, E.; Husebye, E.S.
T cell responses to steroid cytochrome P450 21-hydroxylase in patients with autoimmune primary adrenal insufficiency
J. Clin. Endocrinol. Metab.
94
5117-5124
2009
Homo sapiens
Rottembourg, D.; Deal, C.; Lambert, M.; Mallone, R.; Carel, J.C.; Lacroix, A.; Caillat-Zucman, S.; le Deist, F.
21-Hydroxylase epitopes are targeted by CD8 T cells in autoimmune Addisons disease
J. Autoimmun.
35
309-315
2010
Homo sapiens (P08686), Homo sapiens
Zehentgruber, D.; Dragan, C.A.; Bureik, M.; Luetz, S.
Challenges of steroid biotransformation with human cytochrome P450 monooxygenase CYP21 using resting cells of recombinant Schizosaccharomyces pombe
J. Biotechnol.
146
179-185
2010
Homo sapiens (P08686), Homo sapiens
Gaffney, D.; Howie, A.; Bakkush, A.; Hoffmann, T.; Mason, J.; Wallace, A.; Donaldson, M.
Functional characterisation of the H365Y mutation of the 21-hydroxylase gene in congenital adrenal hyperplasia
J. Steroid Biochem. Mol. Biol.
123
109-114
2011
Homo sapiens
Sushko, T.A.; Gilep, A.A.; Usanov, S.A.
Mechanism of intermolecular interactions of microsomal cytochrome P450s CYP17 and CYP21 involved in steroid hormone biosynthesis
Biochemistry (Moscow)
77
585-592
2012
Homo sapiens
Mizrachi, D.; Wang, Z.; Sharma, K.K.; Gupta, M.K.; Xu, K.; Dwyer, C.R.; Auchus, R.J.
Why human cytochrome P450c21 is a progesterone 21-hydroxylase
Biochemistry
50
3968-3974
2011
Homo sapiens (P08686), Homo sapiens
Yoshimoto, F.K.; Zhou, Y.; Peng, H.M.; Stidd, D.; Yoshimoto, J.A.; Sharma, K.K.; Matthew, S.; Auchus, R.J.
Minor activities and transition state properties of the human steroid hydroxylases cytochromes P450c17 and P450c21, from reactions observed with deuterium-labeled substrates
Biochemistry
51
7064-7077
2012
Homo sapiens
Zhao, B.; Lei, L.; Kagawa, N.; Sundaramoorthy, M.; Banerjee, S.; Nagy, L.D.; Guengerich, F.P.; Waterman, M.R.
Three-dimensional structure of steroid 21-hydroxylase (cytochrome P450 21A2) with two substrates reveals locations of disease-associated variants
J. Biol. Chem.
287
10613-10622
2012
Bos taurus (P00191), Bos taurus, Homo sapiens (P08686)
Yoshimoto, F.K.; Desilets, M.C.; Auchus, R.J.
Synthesis of halogenated pregnanes, mechanistic probes of steroid hydroxylases CYP17A1 and CYP21A2
J. Steroid Biochem. Mol. Biol.
128
38-50
2012
Homo sapiens
Haider, S.; Islam, B.; DAtri, V.; Sgobba, M.; Poojari, C.; Sun, L.; Yuen, T.; Zaidi, M.; New, M.I.
Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia
Proc. Natl. Acad. Sci. USA
110
2605-2610
2013
Homo sapiens (P08686), Homo sapiens
Parr, M.K.; Zoellner, A.; Fusshoeller, G.; Opfermann, G.; Schloerer, N.; Zorio, M.; Bureik, M.; Schaenzer, W.
Unexpected contribution of cytochrome P450 enzymes CYP11B2 and CYP21, as well as CYP3A4 in xenobiotic androgen elimination - insights from metandienone metabolism
Toxicol. Lett.
213
381-391
2012
Homo sapiens
Pallan, P.S.; Wang, C.; Lei, L.; Yoshimoto, F.K.; Auchus, R.J.; Waterman, M.R.; Guengerich, F.P.; Egli, M.
Human cytochrome P450 21A2, the major steroid 21-hydroxylase: structure of the enzyme-progesterone substrate complex and rate-limiting C-H bond cleavage
J. Biol. Chem.
290
13128-13143
2015
Bos taurus (P00191), Bos taurus, Homo sapiens (P08686), Homo sapiens
Doleschall, M.; Szabo, J.A.; Pazmandi, J.; Szilagyi, A.; Koncz, K.; Farkas, H.; Toth, M.; Igaz, P.; Glaz, E.; Prohaszka, Z.; Korbonits, M.; Racz, K.; Fuest, G.; Patocs, A.
Common genetic variants of the human steroid 21-hydroxylase gene (CYP21A2) are related to differences in circulating hormone levels
PLoS ONE
9
e107244
2014
Homo sapiens (P08686), Homo sapiens
Yoshimoto, F.K.; Peng, H.M.; Zhang, H.; Anderson, S.M.; Auchus, R.J.
Epoxidation activities of human cytochromes P450c17 and P450c21
Biochemistry
53
7531-7540
2014
Homo sapiens (P08686), Homo sapiens
Wang, C.; Pallan, P.S.; Zhang, W.; Lei, L.; Yoshimoto, F.K.; Waterman, M.R.; Egli, M.; Guengerich, F.P.
Functional analysis of human cytochrome P450 21A2 variants involved in congenital adrenal hyperplasia
J. Biol. Chem.
292
10767-10778
2017
Homo sapiens (P08686), Homo sapiens
