Reference on EC 6.3.4.16 - carbamoyl-phosphate synthase (ammonia) and Organism(s) Homo sapiens and UniProt Accession P31327
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AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Rubio, V.; Ramponi, G.; Grisolia, S.
Carbamoyl phosphate synthetase I of human liver. Purification, some properties and immunological cross-reactivity with the rat liver enzyme
Biochim. Biophys. Acta
659
150-160
1981
Homo sapiens
Pierson, D.L.; Brien, J.M.
Human carbamylphosphate synthetase I. Stabilization, purification, and partial characterization of the enzyme from human liver
J. Biol. Chem.
255
7891-7895
1980
Homo sapiens
Summar, M.L.; Gainer, J.V.; Pretorius, M.; Malave, H.; Harris, S.; Hall, L.D.; Weisberg, A.; Vaughan, D.E.; Christman, B.W.; Brown, N.J.
Relationship between carbamoyl-phosphate synthetase genotype and systemic vascular function
Hypertension
43
186-191
2004
Homo sapiens
Saeed-Kothe, A.; Powers-Lee, S.G.
Gain of glutaminase function in mutants of the ammonia-specific frog carbamoyl phosphate synthetase
J. Biol. Chem.
278
26722-26726
2003
Homo sapiens, Lithobates catesbeianus, Rattus norvegicus
Huo, R.; Zhu, H.; Lu, L.; Ying, L.; Xu, M.; Xu, Z.; Li, J.; Zhou, Z.; Sha, J.
Molecular cloning, identification and characteristics of a novel isoform of carbamyl phosphate synthetase I in human testis
J. Biochem. Mol. Biol.
38
28-33
2005
Homo sapiens (P31327), Homo sapiens
Summar, M.L.; Hall, L.; Christman, B.; Barr, F.; Smith, H.; Kallianpur, A.; Brown, N.; Yadav, M.; Willis, A.; Eeds, A.; Cermak, E.; Summar, S.; Wilson, A.; Arvin, M.; Putnam, A.; Wills, M.; Cunningham, G.
Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I
Mol. Genet. Metab.
81 Suppl 1
S12-19
2004
Homo sapiens
Canter, J.A.; Summar, M.L.; Smith, H.B.; Rice, G.D.; Hall, L.D.; Ritchie, M.D.; Motsinger, A.A.; Christian, K.G.; Drinkwater, D.C.; Scholl, F.G.; Dyer, K.L.; Kavanaugh-McHugh, A.L.; Barr, F.E.
Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: a validated genetic association study
Mitochondrion
7
204-210
2007
Homo sapiens
Hart, E.J.; Powers-Lee, S.G.
Role of Cys1327 and Cys1337 in redox sensitivity and allosteric monitoring in human carbamoyl phosphate synthetase
J. Biol. Chem.
284
5977-5985
2008
Homo sapiens (P31327), Homo sapiens
Ahuja, V.; Powers-Lee, S.G.
Human carbamoyl-phosphate synthetase: insight into N-acetylglutamate interaction and the functional effects of a common single nucleotide polymorphism
J. Inherit. Metab. Dis.
31
481-491
2008
Homo sapiens (P31327), Homo sapiens
Butler, S.L.; Dong, H.; Cardona, D.; Jia, M.; Zheng, R.; Zhu, H.; Crawford, J.M.; Liu, C.
The antigen for Hep Par 1 antibody is the urea cycle enzyme carbamoyl phosphate synthetase 1
Lab. Invest.
88
78-88
2008
Homo sapiens
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
Escherichia coli, Rattus norvegicus, Homo sapiens (P31327), Homo sapiens
Ono, H.; Suto, T.; Kinoshita, Y.; Sakano, T.; Furue, T.; Ohta, T.
A case of carbamoyl phosphate synthetase 1 deficiency presenting symptoms at one month of age
Brain Dev.
31
779-781
2009
Homo sapiens
Klaus, V.; Vermeulen, T.; Minassian, B.; Israelian, N.; Engel, K.; Lund, A.M.; Roebrock, K.; Christensen, E.; Haeberle, J.
Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?
Clin. Genet.
76
263-269
2009
Homo sapiens
Moore, P.E.; Ryckman, K.K.; Williams, S.M.; Patel, N.; Summar, M.L.; Sheller, J.R.
Genetic variants of GSNOR and ADRB2 influence response to albuterol in African-American children with severe asthma
Pediatr. Pulmonol.
44
649-654
2009
Homo sapiens (P31327), Homo sapiens
Liu, H.; Dong, H.; Robertson, K.; Liu, C.
DNA methylation suppresses expression of the urea cycle enzyme carbamoyl phosphate synthetase 1 (CPS1) in human hepatocellular carcinoma
Am. J. Pathol.
178
652-661
2011
Homo sapiens (P31327), Homo sapiens
Haeberle, J.; Shchelochkov, O.A.; Wang, J.; Katsonis, P.; Hall, L.; Reiss, S.; Eeds, A.; Willis, A.; Yadav, M.; Summar, S.; Summar, S.; Lichtarge, O.; Rubio, V.; Wong, L.J.; Summar, M.
Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations
Hum. Mutat.
32
579-589
2011
Homo sapiens
Lopes-Marques, M.; Igrejas, G.; Amorim, A.; Azevedo, L.
Human carbamoyl phosphate synthetase I (CPSI): insights on the structural role of the unknown function domains
Biochem. Biophys. Res. Commun.
421
409-412
2012
Homo sapiens (P31327), Homo sapiens
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
Homo sapiens (P31327), Homo sapiens
Wang, Y.; Chang, L.; Zhai, J.; Wu, Q.; Wang, D.; Wang, Y.
Generation of carbamoyl phosphate synthetase 1 reporter cell lines for the assessment of ammonia metabolism
J. Cell. Mol. Med.
21
3214-3223
2017
Homo sapiens, Homo sapiens (P31327)
Lee, Y.Y.; Li, C.F.; Lin, C.Y.; Lee, S.W.; Sheu, M.J.; Lin, L.C.; Chen, T.J.; Wu, T.F.; Hsing, C.H.
Overexpression of CPS1 is an independent negative prognosticator in rectal cancers receiving concurrent chemoradiotherapy
Tumour Biol.
35
11097-11105
2014
Homo sapiens (P31327), Homo sapiens
