Sequence of BPL1_HUMAN

biotin-[methylmalonyl-CoA-carboxytransferase] ligase

P50747

726

80760

904513

Suzuki Y.,Aoki Y.,Ishida Y.,Chiba Y.,Iwamatsu A.,Kishino T.,Niikawa N.,Matsubara Y.,Narisawa K.

Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA.

Nat. Genet.

8

122-128

1994

904514

Ohira M.,Seki N.,Nagase T.,Suzuki E.,Nomura N.,Ohara O.,Hattori M.,Sakaki Y.,Eki T.,Murakami Y.,Saito T.,Ichikawa H.,Ohki M.

Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21.

Genome Res.

7

47-58

1997

904516

Yang X.,Aoki Y.,Li X.,Sakamoto O.,Hiratsuka M.,Kure S.,Taheri S.,Christensen E.,Inui K.,Kubota M.,Ohira M.,Ohki M.,Kudoh J.,Kawasaki K.,Shibuya K.,Shintani A.,Asakawa S.,Minoshima S.,Shimizu N.,Narisawa K.,Matsubara Y.,Suzuki Y.

Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.

Hum. Genet.

109

526-534

2001

904517

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

904518

Hattori M.,Fujiyama A.,Taylor T.D.,Watanabe H.,Yada T.,Park H.-S.,Toyoda A.,Ishii K.,Totoki Y.,Choi D.-K.,Groner Y.,Soeda E.,Ohki M.,Takagi T.,Sakaki Y.,Taudien S.,Blechschmidt K.,Polley A.,Menzel U.,Delabar J.,Kumpf K.,Lehmann R.,Patterson D.,Reichwald K.,Rump A.,Schillhabel M.,Schudy A.,Zimmermann W.,Rosenthal A.,Kudoh J.,Shibuya K.,Kawasaki K.,Asakawa S.,Shintani A.,Sasaki T.,Nagamine K.,Mitsuyama S.,Antonarakis S.E.,Minoshima S.,Shimizu N.,Nordsiek G.,Hornischer K.,Brandt P.,Scharfe M.,Schoen O.,Desario A.,Reichelt J.,Kauer G.,Bloecker H.,Ramser J.,Beck A.,Klages S.,Hennig S.,Riesselmann L.,Dagand E.,Wehrmeyer S.,Borzym K.,Gardiner K.,Nizetic D.,Francis F.,Lehrach H.,Reinhardt R.,Yaspo M.-L.

The DNA sequence of human chromosome 21.

Nature

405

311-319

2000

904520

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

Genome Res.

14

2121-2127

2004

904521

Dahmane N.,Ait-Ghezala G.,Gosset P.,Chamoun Z.,Dufresne-Zacharia M.-C.,Lopes C.,Rabatel N.,Gassanova-Maugenre S.,Chettouh Z.,Abramowski V.,Fayet E.,Yaspo M.-L.,Korn B.,Blouin J.-L.,Lehrach H.,Poustka A.,Antonarakis S.E.,Sinet P.-M.,Creau N.,Delabar J.-M.

Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome.

Genomics

48

12-23

1998

904522

Leon-Del-Rio A.,Leclerc D.,Akerman B.,Wakamatsu N.,Gravel R.A.

Isolation of a cDNA encoding human holocarboxylase synthetase by functional complementation of a biotin auxotroph of Escherichia coli.

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

92

4626-4630

1995

904523

Dephoure N.,Zhou C.,Villen J.,Beausoleil S.A.,Bakalarski C.E.,Elledge S.J.,Gygi S.P.

A quantitative atlas of mitotic phosphorylation.

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

105

10762-10767

2008

904524

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

904525

Zhou H.,Di Palma S.,Preisinger C.,Peng M.,Polat A.N.,Heck A.J.,Mohammed S.

Toward a comprehensive characterization of a human cancer cell phosphoproteome.

J. Proteome Res.

12

260-271

2013

904526

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

904527

Aoki Y.,Suzuki Y.,Sakamoto O.,Li X.,Takahashi K.,Ohtake A.,Sakuta R.,Ohura T.,Miyabayashi S.,Narisawa K.

Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients.

Biochim. Biophys. Acta

1272

168-174

1995

904528

Dupuis L.,Leon-Del-Rio A.,Leclerc D.,Campeau E.,Sweetman L.,Saudubray J.-M.,Herman G.,Gibson K.M.,Gravel R.A.

Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.

Hum. Mol. Genet.

5

1011-1016

1996

904529

Aoki Y.,Suzuki Y.,Li X.,Sakamoto O.,Chikaoka H.,Takita S.,Narisawa K.

Characterization of mutant holocarboxylase synthetase (HCS): a Km for biotin was not elevated in a patient with HCS deficiency.

Pediatr. Res.

42

849-854

1997

904530

Aoki Y.,Li X.,Sakamoto O.,Hiratsuka M.,Akaishi H.,Xu L.,Briones P.,Suormala T.,Baumgartner E.R.,Suzuki Y.,Narisawa K.

Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency.

Hum. Genet.

104

143-148

1999

904531

Sakamoto O.,Suzuki Y.,Li X.,Aoki Y.,Hiratsuka M.,Suormala T.,Baumgartner E.R.,Gibson K.M.,Narisawa K.

Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency.

Pediatr. Res.

46

671-676

1999

904532

Morrone A.,Malvagia S.,Donati M.A.,Funghini S.,Ciani F.,Pela I.,Boneh A.,Peters H.,Pasquini E.,Zammarchi E.

Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.

Am. J. Med. Genet.

111

10-18

2002

904533

Tang N.L.S.,Hui J.,Yong C.K.K.,Wong L.T.K.,Applegarth D.A.,Vallance H.D.,Law L.K.,Fung S.L.M.,Mak T.W.L.,Sung Y.M.,Cheung K.L.,Fok T.F.

A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.

Clin. Biochem.

36

145-149

2003

904534

Suzuki Y.,Yang X.,Aoki Y.,Kure S.,Matsubara Y.

Mutations in the holocarboxylase synthetase gene HLCS.

Hum. Mutat.

26

285-290

2005

904535

Sjoeblom T.,Jones S.,Wood L.D.,Parsons D.W.,Lin J.,Barber T.D.,Mandelker D.,Leary R.J.,Ptak J.,Silliman N.,Szabo S.,Buckhaults P.,Farrell C.,Meeh P.,Markowitz S.D.,Willis J.,Dawson D.,Willson J.K.V.,Gazdar A.F.,Hartigan J.,Wu L.,Liu C.,Parmigiani G.,Park B.H.,Bachman K.E.,Papadopoulos N.,Vogelstein B.,Kinzler K.W.,Velculescu V.E.

The consensus coding sequences of human breast and colorectal cancers.

Science

314

268-274

2006

904536

Bailey L.M.,Ivanov R.A.,Jitrapakdee S.,Wilson C.J.,Wallace J.C.,Polyak S.W.

Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency.

Hum. Mutat.

29

0-0

2008

904537

Tammachote R.,Janklat S.,Tongkobpetch S.,Suphapeetiporn K.,Shotelersuk V.

Holocarboxylase synthetase deficiency: novel clinical and molecular findings.

Clin. Genet.

78

88-93

2010

904538

De Castro M.,Zand D.J.,Lichter-Konecki U.,Kirmse B.

Severe neonatal holocarboxylase synthetase deficiency in west african siblings.

JIMD Rep.

20

1-4

2015