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Gene Review

CPS1  -  carbamoyl-phosphate synthase 1, mitochondrial

Homo sapiens

Synonyms: CPSASE1, CPSase I, Carbamoyl-phosphate synthetase I, PHN
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Disease relevance of CPS1


High impact information on CPS1

  • Disruption of CPS1 caused reduced virulence of both race T and race O of C. heterostrophus on maize, of Cochliobolus victoriae on oats, and of Gibberella zeae on wheat [5].
  • Phylogenetic analysis suggested that CPS1 represents a previously undescribed subset of adenylate-forming enzymes that have diverged from certain acyl-CoA ligases, which in bacteria are involved in biosynthesis of nonribosomal peptides or polyketidepeptide hybrids [5].
  • Carbamoyl phosphate synthetase I (CPS1) deficiency is an autosomal recessive metabolic disorder affecting the first enzymatic step of urea cycle [6].
  • Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1 [6].
  • The growth at 37 degrees C was impaired, and the ability to associate with human brain endothelial cells in vitro was also significantly reduced by the deletion of CPS1 [1].

Chemical compound and disease context of CPS1


Biological context of CPS1

  • These results suggest that CPS1 functions as a general fungal virulence factor in plant pathogenic ascomycetes [5].
  • By analysis of cDNA and genomic DNA, he was shown to be a compound heterozygote with two point mutations of the CPS1 gene, 840G>C leading to an aberrant splicing and 1123C>T (predicting Q375X) [7].
  • A multiple tissue expression profile showed high expression of this gene in human testis, suggesting the novel alternative splicing form of CPS1 may be correlated with human spermatogenesis [8].
  • Here, we present the entire DNA sequence of the human CPS1 gene including all exon-intron boundaries [9].
  • Two novel genetic lesions (c.1370T>G and c.2429A>G) that lead to the novel amino acid substitutions V457G and Q810R, and the known N1406T polymorphism, were detected in the patient's CPS1 RNA and in genomic DNA isolated from peripheral blood lymphocytes [10].

Anatomical context of CPS1

  • Comparisons between the wild-type and the cps1Delta strains, using three different transmission electron microscopic methods, indicated that the CPS1 gene product is involved in the composition or maintenance of an electron-dense layer between the outer cell wall and the capsule [1].
  • The large (5215 bp) CPS1-cDNA, expressed only in liver and epithelial cells of intestinal mucosa, has been cloned [10].
  • We suggest that circulating CPS-1 might serve as a novel serum marker indicating mitochondrial impairment of the liver and/or the small intestine in critically ill patients [4].
  • We tested the hypothesis that CPS 1 and OTC are expressed at low levels in fibroblasts and indeed were able to amplify full-length cDNA from that source [11].

Associations of CPS1 with chemical compounds

  • Carbamyl Phosphate Synthetase I (CPS1) (EC is a highly conserved mitochondrial enzyme catalyzing the first committed step of waste nitrogen metabolism in the urea cycle [12].
  • All enzyme levels were normal except N-acetyl glutamate-dependent carbamyl phosphate synthetase 1 (CPS1) which was half the mean activity in normal control specimens [13].
  • Plasma CPS-1 levels and liver mitochondrial variables, including morphology, respiratory activity, mass (i.e., cardiolipin content), and protein carbonylation, were assessed at various time points (8, 24, and 48 hrs and 6 days) after surgery [3].
  • Treatment with lipopolysaccharide (LPS) was followed by an early but long-lasting (5-48 h) generation of N-terminal fragments of carbamoyl phosphate synthase-1 (CPS-1), an abundant enzyme of the hepatic urea cycle, which is normally located in the mitochondrial matrix [4].

Analytical, diagnostic and therapeutic context of CPS1


  1. CPS1, a homolog of the Streptococcus pneumoniae type 3 polysaccharide synthase gene, is important for the pathobiology of Cryptococcus neoformans. Chang, Y.C., Jong, A., Huang, S., Zerfas, P., Kwon-Chung, K.J. Infect. Immun. (2006) [Pubmed]
  2. Carbamyl phosphate synthetase I. A novel marker for gastric carcinoma. Liu, T.H., Li, D.C., Gu, C.F., Ye, S.F. Chin. Med. J. (1989) [Pubmed]
  3. Carbamoyl phosphate synthase-1: a marker of mitochondrial damage and depletion in the liver during sepsis. Crouser, E.D., Julian, M.W., Huff, J.E., Struck, J., Cook, C.H. Crit. Care Med. (2006) [Pubmed]
  4. Release of the mitochondrial enzyme carbamoyl phosphate synthase under septic conditions. Struck, J., Uhlein, M., Morgenthaler, N.G., Fürst, W., Höflich, C., Bahrami, S., Bergmann, A., Volk, H.D., Redl, H. Shock (2005) [Pubmed]
  5. A novel class of gene controlling virulence in plant pathogenic ascomycete fungi. Lu, S.W., Kroken, S., Lee, B.N., Robbertse, B., Churchill, A.C., Yoder, O.C., Turgeon, B.G. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  6. Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1. Finckh, U., Kohlschütter, A., Schäfer, H., Sperhake, K., Colombo, J.P., Gal, A. Hum. Mutat. (1998) [Pubmed]
  7. Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis. Aoshima, T., Kajita, M., Sekido, Y., Mimura, S., Itakura, A., Yasuda, I., Saheki, T., Watanabe, K., Shimokata, K., Niwa, T. Prenat. Diagn. (2001) [Pubmed]
  8. Molecular cloning, identification and characteristics of a novel isoform of carbamyl phosphate synthetase I in human testis. Huo, R., Zhu, H., Lu, L., Ying, L., Xu, M., Xu, Z., Li, J., Zhou, Z., Sha, J. J. Biochem. Mol. Biol. (2005) [Pubmed]
  9. Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset. Häberle, J., Schmidt, E., Pauli, S., Rapp, B., Christensen, E., Wermuth, B., Koch, H.G. Hum. Mutat. (2003) [Pubmed]
  10. Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions. Funghini, S., Donati, M.A., Pasquini, E., Zammarchi, E., Morrone, A. Hum. Mutat. (2003) [Pubmed]
  11. Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts. Rapp, B., Häberle, J., Linnebank, M., Wermuth, B., Marquardt, T., Harms, E., Koch, H.G. Eur. J. Pediatr. (2001) [Pubmed]
  12. Physical and linkage mapping of human carbamyl phosphate synthetase I (CPS1) and reassignment from 2p to 2q35. Summar, M.L., Dasouki, M.J., Schofield, P.J., Krishnamani, M.R., Vnencak-Jones, C., Tuchman, M., Mao, J., Phillips, J.A. Cytogenet. Cell Genet. (1995) [Pubmed]
  13. Detection of carbamyl phosphate synthetase 1 deficiency using duodenal biopsy samples. Hoogenraad, N.J., Mitchell, J.D., Don, N.A., Sutherland, T.M., Mc Leay, A.C. Arch. Dis. Child. (1980) [Pubmed]
  14. Assignment of the human carbamyl phosphate synthetase I gene (CPS1) to 2q35 by fluorescence in situ hybridization. Hoshide, R., Soejima, H., Ohta, T., Niikawa, N., Haraguchi, Y., Matsuura, T., Endo, F., Matsuda, I. Genomics (1995) [Pubmed]
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