Sequence of AK1D1_HUMAN

DELTA4-3-oxosteroid 5beta-reductase

P51857

326

37377

641086

Kondo K.-H.,Kai M.-H.,Setoguchi Y.,Eggertsen G.,Sjoeblom P.,Setoguchi T.,Okuda K.,Bjoerkhem I.

Cloning and expression of cDNA of human delta 4-3-oxosteroid 5 beta-reductase and substrate specificity of the expressed enzyme.

Eur. J. Biochem.

219

357-363

1994

641087

Charbonneau A.,The V.L.

Genomic organization of a human 5beta-reductase and its pseudogene and substrate selectivity of the expressed enzyme.

Biochim. Biophys. Acta

1517

228-235

2001

641088

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

641089

Hillier L.W.,Fulton R.S.,Fulton L.A.,Graves T.A.,Pepin K.H.,Wagner-McPherson C.,Layman D.,Maas J.,Jaeger S.,Walker R.,Wylie K.,Sekhon M.,Becker M.C.,O'Laughlin M.D.,Schaller M.E.,Fewell G.A.,Delehaunty K.D.,Miner T.L.,Nash W.E.,Cordes M.,Du H.,Sun H.,Edwards J.,Bradshaw-Cordum H.,Ali J.,Andrews S.,Isak A.,Vanbrunt A.,Nguyen C.,Du F.,Lamar B.,Courtney L.,Kalicki J.,Ozersky P.,Bielicki L.,Scott K.,Holmes A.,Harkins R.,Harris A.,Strong C.M.,Hou S.,Tomlinson C.,Dauphin-Kohlberg S.,Kozlowicz-Reilly A.,Leonard S.,Rohlfing T.,Rock S.M.,Tin-Wollam A.-M.,Abbott A.,Minx P.,Maupin R.,Strowmatt C.,Latreille P.,Miller N.,Johnson D.,Murray J.,Woessner J.P.,Wendl M.C.,Yang S.-P.,Schultz B.R.,Wallis J.W.,Spieth J.,Bieri T.A.,Nelson J.O.,Berkowicz N.,Wohldmann P.E.,Cook L.L.,Hickenbotham M.T.,Eldred J.,Williams D.,Bedell J.A.,Mardis E.R.,Clifton S.W.,Chissoe S.L.,Marra M.A.,Raymond C.,Haugen E.,Gillett W.,Zhou Y.,James R.,Phelps K.,Iadanoto S.,Bubb K.,Simms E.,Levy R.,Clendenning J.,Kaul R.,Kent W.J.,Furey T.S.,Baertsch R.A.,Brent M.R.,Keibler E.,Flicek P.,Bork P.,Suyama M.,Bailey J.A.,Portnoy M.E.,Torrents D.,Chinwalla A.T.,Gish W.R.,Eddy S.R.,McPherson J.D.,Olson M.V.,Eichler E.E.,Green E.D.,Waterston R.H.,Wilson R.K.

The DNA sequence of human chromosome 7.

Nature

424

157-164

2003

641090

Scherer S.W.,Cheung J.,MacDonald J.R.,Osborne L.R.,Nakabayashi K.,Herbrick J.-A.,Carson A.R.,Parker-Katiraee L.,Skaug J.,Khaja R.,Zhang J.,Hudek A.K.,Li M.,Haddad M.,Duggan G.E.,Fernandez B.A.,Kanematsu E.,Gentles S.,Christopoulos C.C.,Choufani S.,Kwasnicka D.,Zheng X.H.,Lai Z.,Nusskern D.R.,Zhang Q.,Gu Z.,Lu F.,Zeesman S.,Nowaczyk M.J.,Teshima I.,Chitayat D.,Shuman C.,Weksberg R.,Zackai E.H.,Grebe T.A.,Cox S.R.,Kirkpatrick S.J.,Rahman N.,Friedman J.M.,Heng H.H.Q.,Pelicci P.G.,Lo-Coco F.,Belloni E.,Shaffer L.G.,Pober B.,Morton C.C.,Gusella J.F.,Bruns G.A.P.,Korf B.R.,Quade B.J.,Ligon A.H.,Ferguson H.,Higgins A.W.,Leach N.T.,Herrick S.R.,Lemyre E.,Farra C.G.,Kim H.-G.,Summers A.M.,Gripp K.W.,Roberts W.,Szatmari P.,Winsor E.J.T.,Grzeschik K.-H.,Teebi A.,Minassian B.A.,Kere J.,Armengol L.,Pujana M.A.,Estivill X.,Wilson M.D.,Koop B.F.,Tosi S.,Moore G.E.,Boright A.P.,Zlotorynski E.,Kerem B.,Kroisel P.M.,Petek E.,Oscier D.G.,Mould S.J.,Doehner H.,Doehner K.,Rommens J.M.,Vincent J.B.,Venter J.C.,Li P.W.,Mural R.J.,Adams M.D.,Tsui L.-C.

Human chromosome 7: DNA sequence and biology.

Science

300

767-772

2003

641092

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

Genome Res.

14

2121-2127

2004

641093

Burkard T.R.,Planyavsky M.,Kaupe I.,Breitwieser F.P.,Buerckstuemmer T.,Bennett K.L.,Superti-Furga G.,Colinge J.

Initial characterization of the human central proteome.

BMC Syst. Biol.

5

17-17

2011

641094

Drury J.E.,Mindnich R.,Penning T.M.

Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency.

J. Biol. Chem.

285

24529-24537

2010

641095

Chen M.,Drury J.E.,Penning T.M.

Substrate specificity and inhibitor analyses of human steroid 5beta-reductase (AKR1D1).

Steroids

76

484-490

2011

641096

Bian Y.,Song C.,Cheng K.,Dong M.,Wang F.,Huang J.,Sun D.,Wang L.,Ye M.,Zou H.

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

J. Proteomics

96

253-262

2014

641097

Faucher F.,Cantin L.,Luu-The V.,Labrie F.,Breton R.

The crystal structure of human Delta4-3-ketosteroid 5beta-reductase defines the functional role of the residues of the catalytic tetrad in the steroid double bond reduction mechanism.

Biochemistry

47

8261-8270

2008

641098

Faucher F.,Cantin L.,Luu-The V.,Labrie F.,Breton R.

Crystal structures of human Delta4-3-ketosteroid 5beta-reductase (AKR1D1) reveal the presence of an alternative binding site responsible for substrate inhibition.

Biochemistry

47

13537-13546

2008

641099

Di Costanzo L.,Drury J.E.,Penning T.M.,Christianson D.W.

Crystal structure of human liver delta(4)-3-ketosteroid 5beta-reductase (AKR1D1) and implications for substrate binding and catalysis.

J. Biol. Chem.

283

16830-16839

2008

641100

Drury J.E.,Di Costanzo L.,Penning T.M.,Christianson D.W.

Inhibition of human steroid 5beta-reductase (AKR1D1) by finasteride and structure of the enzyme-inhibitor complex.

J. Biol. Chem.

284

19786-19790

2009

641101

Di Costanzo L.,Drury J.E.,Christianson D.W.,Penning T.M.

Structure and catalytic mechanism of human steroid 5beta-reductase (AKR1D1).

Mol. Cell. Endocrinol.

301

191-198

2009

641102

Chen M.,Drury J.E.,Christianson D.W.,Penning T.M.

Conversion of human steroid 5beta-reductase (AKR1D1) into 3beta-hydroxysteroid dehydrogenase by single point mutation E120H: example of perfect enzyme engineering.

J. Biol. Chem.

287

16609-16622

2012

641103

Lemonde H.A.,Custard E.J.,Bouquet J.,Duran M.,Overmars H.,Scambler P.J.,Clayton P.T.

Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy.

Gut

52

1494-1499

2003

641104

Gonzales E.,Cresteil D.,Baussan C.,Dabadie A.,Gerhardt M.F.,Jacquemin E.

SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect.

J. Hepatol.

40

716-718

2004

641105

Ueki I.,Kimura A.,Chen H.L.,Yorifuji T.,Mori J.,Itoh S.,Maruyama K.,Ishige T.,Takei H.,Nittono H.,Kurosawa T.,Kage M.,Matsuishi T.

SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta4-steroid 5beta-reductase deficiency.

J. Gastroenterol. Hepatol.

24

776-785

2009