Sequence of BPL1_HUMAN

EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
biotin-[propionyl-CoA-carboxylase (ATP-hydrolysing)] ligase
P50747
Homo sapiens
726
80760
Reaction
ATP + biotin + apo-[propionyl-CoA:carbon-dioxide ligase (ADP-forming)] = AMP + diphosphate + [propionyl-CoA:carbon-dioxide ligase (ADP-forming)]
Sequences with same EC No.
Sequence
show sequence in fasta format
  0 MEDRLHMDNG LVPQKIVSVH LQDSTLKEVK DQVSNKQAQI LEPKPEPSLE IKPEQDGMEH
 60 VGRDDPKALG EEPKQRRGSA SGSEPAGDSD RGGGPVEHYH LHLSSCHECL ELENSTIESV
120 KFASAENIPD LPYDYSSSLE SVADETSPER EGRRVNLTGK APNILLYVGS DSQEALGRFH
180 EVRSVLADCV DIDSYILYHL LEDSALRDPW TDNCLLLVIA TRESIPEDLY QKFMAYLSQG
240 GKVLGLSSSF TFGGFQVTSK GALHKTVQNL VFSKADQSEV KLSVLSSGCR YQEGPVRLSP
300 GRLQGHLENE DKDRMIVHVP FGTRGGEAVL CQVHLELPPS SNIVQTPEDF NLLKSSNFRR
360 YEVLREILTT LGLSCDMKQV PALTPLYLLS AAEEIRDPLM QWLGKHVDSE GEIKSGQLSL
420 RFVSSYVSEV EITPSCIPVV TNMEAFSSEH FNLEIYRQNL QTKQLGKVIL FAEVTPTTMR
480 LLDGLMFQTP QEMGLIVIAA RQTEGKGRGG NVWLSPVGCA LSTLLISIPL RSQLGQRIPF
540 VQHLMSVAVV EAVRSIPEYQ DINLRVKWPN DIYYSDLMKI GGVLVNSTLM GETFYILIGC
600 GFNVTNSNPT ICINDLITEY NKQHKAELKP LRADYLIARV VTVLEKLIKE FQDKGPNSVL
660 PLYYRYWVHS GQQVHLGSAE GPKVSIVGLD DSGFLQVHQE GGEVVTVHPD GNSFDMLRNL
720 ILPKRR
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Sequence related references
Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
259403
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
259404
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
259406
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
259407
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
259408
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
259410
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
259411
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
259412
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
259413
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
259414
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
259415
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
259416
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
259417
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
259418
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
259419
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
259420
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
259421
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
259422
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
259423
Suzuki Y.,Yang X.,Aoki Y.,Kure S.,Matsubara Y.
Mutations in the holocarboxylase synthetase gene HLCS.
Hum. Mutat.
26
285-290
2005
259424
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
259425
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
259426
Tammachote R.,Janklat S.,Tongkobpetch S.,Suphapeetiporn K.,Shotelersuk V.
Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
Clin. Genet.
78
88-93
2010
259427
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