Sequence of CPSM_HUMAN

carbamoyl-phosphate synthase (ammonia)

P31327

1500

164939

530040

Haraguchi Y.,Uchino T.,Takiguchi M.,Endo F.,Mori M.,Matsuda I.

Cloning and sequence of a cDNA encoding human carbamyl phosphate synthetase I: molecular analysis of hyperammonemia.

Gene

107

335-340

1991

530041

Finckh U.,Kohlschuetter A.,Schaefer H.,Sperhake K.,Colombo J.-P.,Gal A.

Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.

Hum. Mutat.

12

206-211

1998

530042

Summar M.L.,Hall L.D.,Eeds A.M.,Hutcheson H.B.,Kuo A.N.,Willis A.S.,Rubio V.,Arvin M.K.,Schofield J.P.,Dawson E.P.

Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene.

Gene

311

51-57

2003

530044

Funghini S.,Donati M.A.,Pasquini E.,Zammarchi E.,Morrone A.

Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions.

Hum. Mutat.

22

340-341

2003

530045

Haeberle J.,Schmidt E.,Pauli S.,Rapp B.,Christensen E.,Wermuth B.,Koch H.G.

Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset.

Hum. Mutat.

21

444-444

2003

530046

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

530047

Hillier L.W.,Graves T.A.,Fulton R.S.,Fulton L.A.,Pepin K.H.,Minx P.,Wagner-McPherson C.,Layman D.,Wylie K.,Sekhon M.,Becker M.C.,Fewell G.A.,Delehaunty K.D.,Miner T.L.,Nash W.E.,Kremitzki C.,Oddy L.,Du H.,Sun H.,Bradshaw-Cordum H.,Ali J.,Carter J.,Cordes M.,Harris A.,Isak A.,van Brunt A.,Nguyen C.,Du F.,Courtney L.,Kalicki J.,Ozersky P.,Abbott S.,Armstrong J.,Belter E.A.,Caruso L.,Cedroni M.,Cotton M.,Davidson T.,Desai A.,Elliott G.,Erb T.,Fronick C.,Gaige T.,Haakenson W.,Haglund K.,Holmes A.,Harkins R.,Kim K.,Kruchowski S.S.,Strong C.M.,Grewal N.,Goyea E.,Hou S.,Levy A.,Martinka S.,Mead K.,McLellan M.D.,Meyer R.,Randall-Maher J.,Tomlinson C.,Dauphin-Kohlberg S.,Kozlowicz-Reilly A.,Shah N.,Swearengen-Shahid S.,Snider J.,Strong J.T.,Thompson J.,Yoakum M.,Leonard S.,Pearman C.,Trani L.,Radionenko M.,Waligorski J.E.,Wang C.,Rock S.M.,Tin-Wollam A.-M.,Maupin R.,Latreille P.,Wendl M.C.,Yang S.-P.,Pohl C.,Wallis J.W.,Spieth J.,Bieri T.A.,Berkowicz N.,Nelson J.O.,Osborne J.,Ding L.,Meyer R.,Sabo A.,Shotland Y.,Sinha P.,Wohldmann P.E.,Cook L.L.,Hickenbotham M.T.,Eldred J.,Williams D.,Jones T.A.,She X.,Ciccarelli F.D.,Izaurralde E.,Taylor J.,Schmutz J.,Myers R.M.,Cox D.R.,Huang X.,McPherson J.D.,Mardis E.R.,Clifton S.W.,Warren W.C.,Chinwalla A.T.,Eddy S.R.,Marra M.A.,Ovcharenko I.,Furey T.S.,Miller W.,Eichler E.E.,Bork P.,Suyama M.,Torrents D.,Waterston R.H.,Wilson R.K.

Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

Nature

434

724-731

2005

530049

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

Genome Res.

14

2121-2127

2004

530051

Bechtel S.,Rosenfelder H.,Duda A.,Schmidt C.P.,Ernst U.,Wellenreuther R.,Mehrle A.,Schuster C.,Bahr A.,Bloecker H.,Heubner D.,Hoerlein A.,Michel G.,Wedler H.,Koehrer K.,Ottenwaelder B.,Poustka A.,Wiemann S.,Schupp I.

The full-ORF clone resource of the German cDNA consortium.

BMC Genomics

8

399-399

2007

530052

Pekkala S.,Martinez A.I.,Barcelona B.,Gallego J.,Bendala E.,Yefimenko I.,Rubio V.,Cervera J.

Structural insight on the control of urea synthesis: identification of the binding site for N-acetyl-L-glutamate, the essential allosteric activator of mitochondrial carbamoyl phosphate synthetase.

Biochem. J.

424

211-220

2009

530053

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

530054

Ahmad Y.,Boisvert F.M.,Lundberg E.,Uhlen M.,Lamond A.I.

Systematic analysis of protein pools, isoforms, and modifications affecting turnover and subcellular localization.

Mol. Cell. Proteomics

11

0-0

2012

530055

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

530056

Tan M.,Peng C.,Anderson K.A.,Chhoy P.,Xie Z.,Dai L.,Park J.,Chen Y.,Huang H.,Zhang Y.,Ro J.,Wagner G.R.,Green M.F.,Madsen A.S.,Schmiesing J.,Peterson B.S.,Xu G.,Ilkayeva O.R.,Muehlbauer M.J.,Braulke T.,Muehlhausen C.,Backos D.S.,Olsen C.A.,McGuire P.J.,Pletcher S.D.,Lombard D.B.,Hirschey M.D.,Zhao Y.

Lysine glutarylation is a protein posttranslational modification regulated by SIRT5.

Cell Metab.

19

605-617

2014

530057

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

530059

Rapp B.,Haberle J.,Linnebank M.,Wermuth B.,Marquardt T.,Harms E.,Koch H.G.

Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts.

Eur. J. Pediatr.

160

283-287

2001

530060

Aoshima T.,Kajita M.,Sekido Y.,Kikuchi S.,Yasuda I.,Saheki T.,Watanabe K.,Shimokata K.,Niwa T.

Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency.

Hum. Hered.

52

99-101

2001

530061

Pearson D.L.,Dawling S.,Walsh W.F.,Haines J.L.,Christman B.W.,Bazyk A.,Scott N.,Summar M.L.

Neonatal pulmonary hypertension -- urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function.

N. Engl. J. Med.

344

1832-1838

2001

530062

Wakutani Y.,Nakayasu H.,Takeshima T.,Adachi M.,Kawataki M.,Kihira K.,Sawada H.,Bonno M.,Yamamoto H.,Nakashima K.

Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients.

J. Inherit. Metab. Dis.

27

787-788

2004

530063

Haeberle J.,Koch H.G.

Genetic approach to prenatal diagnosis in urea cycle defects.

Prenat. Diagn.

24

378-383

2004

530064

Eeds A.M.,Hall L.D.,Yadav M.,Willis A.,Summar S.,Putnam A.,Barr F.,Summar M.L.

The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency.

Mol. Genet. Metab.

89

80-86

2006

530065

Kurokawa K.,Yorifuji T.,Kawai M.,Momoi T.,Nagasaka H.,Takayanagi M.,Kobayashi K.,Yoshino M.,Kosho T.,Adachi M.,Otsuka H.,Yamamoto S.,Murata T.,Suenaga A.,Ishii T.,Terada K.,Shimura N.,Kiwaki K.,Shintaku H.,Yamakawa M.,Nakabayashi H.,Wakutani Y.,Nakahata T.

Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.

J. Hum. Genet.

52

349-354

2007

530066

Pekkala S.,Martinez A.I.,Barcelona B.,Yefimenko I.,Finckh U.,Rubio V.,Cervera J.

Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis.

Hum. Mutat.

31

801-808

2010

530067

Moonen R.M.,Reyes I.,Cavallaro G.,Gonzalez-Luis G.,Bakker J.A.,Villamor E.

The T1405N carbamoyl phosphate synthetase polymorphism does not affect plasma arginine concentrations in preterm infants.

PLoS ONE

5

0-0

2010

530068

Haberle J.,Shchelochkov O.A.,Wang J.,Katsonis P.,Hall L.,Reiss S.,Eeds A.,Willis A.,Yadav M.,Summar S.,Lichtarge O.,Rubio V.,Wong L.J.,Summar M.

Molecular defects in human carbamoyl phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.

Hum. Mutat.

32

579-589

2011

530069

Solomon B.D.,Pineda-Alvarez D.E.,Hadley D.W.,Teer J.K.,Cherukuri P.F.,Hansen N.F.,Cruz P.,Young A.C.,Blakesley R.W.,Lanpher B.,Mayfield Gibson S.,Sincan M.,Chandrasekharappa S.C.,Mullikin J.C.

Personalized genomic medicine: lessons from the exome.

Mol. Genet. Metab.

104

189-191

2011

530070

Funghini S.,Thusberg J.,Spada M.,Gasperini S.,Parini R.,Ventura L.,Meli C.,De Cosmo L.,Sibilio M.,Mooney S.D.,Guerrini R.,Donati M.A.,Morrone A.

Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.

Gene

493

228-234

2012

530071

Diez-Fernandez C.,Martinez A.I.,Pekkala S.,Barcelona B.,Perez-Arellano I.,Guadalajara A.M.,Summar M.,Cervera J.,Rubio V.

Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool.

Hum. Mutat.

34

1149-1159

2013

530072

Song C.,Wang F.,Cheng K.,Wei X.,Bian Y.,Wang K.,Tan Y.,Wang H.,Ye M.,Zou H.

Large-scale quantification of single amino-acid variations by a variation-associated database search strategy.

J. Proteome Res.

13

241-248

2014

530073

Diez-Fernandez C.,Hu L.,Cervera J.,Haeberle J.,Rubio V.

Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: effects of CPS1 mutations that concentrate in a central domain of unknown function.

Mol. Genet. Metab.

112

123-132

2014

530074

Ali E.Z.,Khalid M.K.,Yunus Z.M.,Yakob Y.,Chin C.B.,Latif K.A.,Hock N.L.

Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients.

Eur. J. Pediatr.

175

339-346

2016

530075

Lek M.,Karczewski K.J.,Minikel E.V.,Samocha K.E.,Banks E.,Fennell T.,O'Donnell-Luria A.H.,Ware J.S.,Hill A.J.,Cummings B.B.,Tukiainen T.,Birnbaum D.P.,Kosmicki J.A.,Duncan L.E.,Estrada K.,Zhao F.,Zou J.,Pierce-Hoffman E.,Berghout J.,Cooper D.N.,Deflaux N.,DePristo M.,Do R.,Flannick J.,Fromer M.,Gauthier L.,Goldstein J.,Gupta N.,Howrigan D.,Kiezun A.,Kurki M.I.,Moonshine A.L.,Natarajan P.,Orozco L.,Peloso G.M.,Poplin R.,Rivas M.A.,Ruano-Rubio V.,Rose S.A.,Ruderfer D.M.,Shakir K.,Stenson P.D.,Stevens C.,Thomas B.P.,Tiao G.,Tusie-Luna M.T.,Weisburd B.,Won H.H.,Yu D.,Altshuler D.M.,Ardissino D.,Boehnke M.,Danesh J.,Donnelly S.,Elosua R.,Florez J.C.,Gabriel S.B.,Getz G.,Glatt S.J.,Hultman C.M.,Kathiresan S.,Laakso M.,McCarroll S.,McCarthy M.I.,McGovern D.,McPherson R.,Neale B.M.,Palotie A.,Purcell S.M.,Saleheen D.,Scharf J.M.,Sklar P.,Sullivan P.F.,Tuomilehto J.,Tsuang M.T.,Watkins H.C.,Wilson J.G.,Daly M.J.,MacArthur D.G.

Analysis of protein-coding genetic variation in 60,706 humans.

Nature

536

285-291

2016