Sequence of CP27B_HUMAN

calcidiol 1-monooxygenase

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Fu G.K.,Portale A.P.,Miller W.L.

Complete structure of the human gene for the vitamin D 1alpha-hydroxylase, P450c1alpha.

DNA Cell Biol.

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1997

1044414

Monkawa T.,Yoshida T.,Wakino S.,Shinki T.,Anazawa H.,Deluca H.F.,Suda T.,Hayashi M.,Saruta T.

Molecular cloning of cDNA and genomic DNA for human 25-hydroxyvitamin D3 1 alpha-hydroxylase.

Biochem. Biophys. Res. Commun.

239

527-533

1997

1044415

Fu G.K.,Lin D.,Zhang Y.H.,Bikle D.D.,Shackleton C.H.,Miller W.L.,Portale A.A.

Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1.

Mol. Endocrinol.

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1961-1970

1997

1044416

Huang D.C.,Papavasiliou V.,Rhim J.S.,Horst R.L.,Kremer R.

Targeted disruption of the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in ras-transformed keratinocytes demonstrates that locally produced 1alpha,25-dihydroxyvitamin D3 suppresses growth and induces differentiation in an autocrine fashion.

Mol. Cancer Res.

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56-67

2002

1044419

Ota T.,Suzuki Y.,Nishikawa T.,Otsuki T.,Sugiyama T.,Irie R.,Wakamatsu A.,Hayashi K.,Sato H.,Nagai K.,Kimura K.,Makita H.,Sekine M.,Obayashi M.,Nishi T.,Shibahara T.,Tanaka T.,Ishii S.,Yamamoto J.,Saito K.,Kawai Y.,Isono Y.,Nakamura Y.,Nagahari K.,Murakami K.,Yasuda T.,Iwayanagi T.,Wagatsuma M.,Shiratori A.,Sudo H.,Hosoiri T.,Kaku Y.,Kodaira H.,Kondo H.,Sugawara M.,Takahashi M.,Kanda K.,Yokoi T.,Furuya T.,Kikkawa E.,Omura Y.,Abe K.,Kamihara K.,Katsuta N.,Sato K.,Tanikawa M.,Yamazaki M.,Ninomiya K.,Ishibashi T.,Yamashita H.,Murakawa K.,Fujimori K.,Tanai H.,Kimata M.,Watanabe M.,Hiraoka S.,Chiba Y.,Ishida S.,Ono Y.,Takiguchi S.,Watanabe S.,Yosida M.,Hotuta T.,Kusano J.,Kanehori K.,Takahashi-Fujii A.,Hara H.,Tanase T.-O.,Nomura Y.,Togiya S.,Komai F.,Hara R.,Takeuchi K.,Arita M.,Imose N.,Musashino K.,Yuuki H.,Oshima A.,Sasaki N.,Aotsuka S.,Yoshikawa Y.,Matsunawa H.,Ichihara T.,Shiohata N.,Sano S.,Moriya S.,Momiyama H.,Satoh N.,Takami S.,Terashima Y.,Suzuki O.,Nakagawa S.,Senoh A.,Mizoguchi H.,Goto Y.,Shimizu F.,Wakebe H.,Hishigaki H.,Watanabe T.,Sugiyama A.,Takemoto M.,Kawakami B.,Yamazaki M.,Watanabe K.,Kumagai A.,Itakura S.,Fukuzumi Y.,Fujimori Y.,Komiyama M.,Tashiro H.,Tanigami A.,Fujiwara T.,Ono T.,Yamada K.,Fujii Y.,Ozaki K.,Hirao M.,Ohmori Y.,Kawabata A.,Hikiji T.,Kobatake N.,Inagaki H.,Ikema Y.,Okamoto S.,Okitani R.,Kawakami T.,Noguchi S.,Itoh T.,Shigeta K.,Senba T.,Matsumura K.,Nakajima Y.,Mizuno T.,Morinaga M.,Sasaki M.,Togashi T.,Oyama M.,Hata H.,Watanabe M.,Komatsu T.,Mizushima-Sugano J.,Satoh T.,Shirai Y.,Takahashi Y.,Nakagawa K.,Okumura K.,Nagase T.,Nomura N.,Kikuchi H.,Masuho Y.,Yamashita R.,Nakai K.,Yada T.,Nakamura Y.,Ohara O.,Isogai T.,Sugano S.

Complete sequencing and characterization of 21,243 full-length human cDNAs.

Nat. Genet.

36

40-45

2004

1044421

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

Genome Res.

14

2121-2127

2004

1044422

Sawada N.,Sakaki T.,Kitanaka S.,Takeyama K.,Kato S.,Inouye K.

Enzymatic properties of human 25-hydroxyvitamin D3 1alpha-hydroxylase coexpression with adrenodoxin and NADPH-adrenodoxin reductase in Escherichia coli.

Eur. J. Biochem.

265

950-956

1999

1044423

Tang E.K.Y.,Tieu E.W.,Tuckey R.C.

Expression of human CYP27B1 in Escherichia coli and characterization in phospholipid vesicles.

FEBS J.

279

3749-3761

2012

1044424

Kitanaka S.,Takeyama K.,Murayama A.,Sato T.,Okumura K.,Nogami M.,Hasegawa Y.,Niimi H.,Yanagisawa J.,Tanaka T.,Kato S.

Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets.

N. Engl. J. Med.

338

653-661

1998

1044425

Wang J.T.,Lin C.-J.,Burridge S.M.,Fu G.K.,Labuda M.,Portale A.A.,Miller W.L.

Genetics of vitamin D 1-alpha-hydroxylase deficiency in 17 families.

Am. J. Hum. Genet.

63

1694-1702

1998

1044426

Smith S.J.,Rucka A.K.,Berry J.L.,Davies M.,Mylchreest S.,Paterson C.R.,Heath D.A.,Tassabehji M.,Read A.P.,Mee A.P.,Mawer E.B.

Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages.

J. Bone Miner. Res.

14

730-739

1999

1044427

Kitanaka S.,Murayama A.,Sakaki T.,Inouye K.,Seino Y.,Fukumoto S.,Shima M.,Yukizane S.,Takayanagi M.,Niimi H.,Takeyama K.,Kato S.

No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation.

J. Clin. Endocrinol. Metab.

84

4111-4117

1999

1044428

Wang X.,Zhang M.Y.,Miller W.L.,Portale A.A.

Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro.

J. Clin. Endocrinol. Metab.

87

2424-2430

2002