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  4. Recombinant Human Carbamoyl-phosphate synthase [ammonia], mitochondrial (CPS1), partial

Recombinant Human Carbamoyl-phosphate synthase [ammonia], mitochondrial (CPS1), partial

  • 中文名稱：
    Recombinant Human Carbamoyl-phosphate synthase [ammonia], mitochondrial(CPS1) ,partial
  • 貨號(hào)：
    CSB-YP005913HU
  • 規(guī)格：
    ￥2208
  • 圖片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

產(chǎn)品詳情

  • 純度：
    Greater than 90% as determined by SDS-PAGE.
  • 基因名：
    CPS1
  • Uniprot No.：
  • 別名：
    Carbamoyl phosphate synthase [ammonia]; Carbamoyl phosphate synthase [ammonia] mitochondrial; Carbamoyl phosphate synthase; Carbamoyl phosphate synthetase 1; Carbamoyl phosphate synthetase 1 mitochondrial; Carbamoyl phosphate synthetase I; Carbamoyl-phosphate synthase [ammonia]; Carbamoyl-phosphate synthetase I; Carbamoylphosphate synthase; Carbamoylphosphate synthetase 1; Carbamoylphosphate synthetase I; CPS 1; Cps1; CPSase 1; CPSase I; CPSASE1; CPSM_HUMAN; mitochondrial; MS738
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長(zhǎng)度：
    Partial
  • 來(lái)源：
    Yeast
  • 分子量：
    18.4 kDa
  • 表達(dá)區(qū)域：
    1354-1500aa
  • 氨基酸序列
    GFKIPQKGILIGIQQSFRPRFLGVAEQLHNEGFKLFATEATSDWLNANNVPATPVAWPSQEGQNPSLSSIRKLIRDGSIDLVINLPNNNTKFVHDNYVIRRTAVDSGIPLLTNFQVTKLFAEAVQKSRKVDSKSLFHYRQYSAGKAA
    Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
    If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
  • 蛋白標(biāo)簽：
    N-terminal 6xHis-tagged
  • 產(chǎn)品提供形式：
    Liquid or Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 緩沖液：
    If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
  • 復(fù)溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 儲(chǔ)存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質(zhì)期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 貨期：
    25-35 business days
  • 注意事項(xiàng)：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 功能：
    Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell.
  • 基因功能參考文獻(xiàn)：
    1. In silico analysis potentially links CPS1 SNPs with major depression disorder. PMID: 29441491
    2. Allele and genotype frequencies of the p.Thr1406Asn polymorphism did not differ between the infants with and without NEC, but the minor A-allele was less frequent in the group of 64 infants with the combined outcome NEC or death before 34 weeks of corrected gestational age than in the infants without this outcome. A significant negative association of the A-allele with the combined outcome NEC or death was found. PMID: 27833157
    3. HNF3beta plays a vital role in regulation of CPS1 gene and could promote the metabolism of ammonia by regulating CPS1 expression. PMID: 28272778
    4. CPS1 maintains pyrimidine pools and DNA synthesis in KRAS/LKB1-mutant lung cancer cells PMID: 28538732
    5. CPS1 knockdown reduced cell growth, decreased levels of metabolites associated with nucleic acid biosynthesis. PMID: 28376202
    6. These results may offer an increasing understand that CPS1 might have a function in differentiation. PMID: 27425868
    7. Molecular structure of CPS1 has been deciphered. PMID: 26592762
    8. CPS1 and CPS1IT1 may be potential prognostic indicators for patients with intrahepatic cholangiocarcinoma. PMID: 26499888
    9. CPS1 is involved in the urea cycle in weight maintenance. PMID: 26938218
    10. These results suggest that glycine metabolism and/or the urea cycle represent potentially novel sex-specific mechanisms for the development of atherosclerosis. PMID: 26822151
    11. Mechanism for Switching On/Off the Urea Cycle PMID: 26059772
    12. More HCC cells could be identified by the antibody cocktail for CPS1 and P-CK compared with a single antibody. PMID: 24763545
    13. characterized the only currently known recurrent CPS1 mutation, p.Val1013del found in eleven unrelated patients of Turkish descent; mutation p.V1013del inactivates CPS1 but does not render the enzyme grossly unstable or insoluble PMID: 25410056
    14. Overexpression of CPS1 is associated with rectal cancers. PMID: 25099619
    15. study examined patient characteristics, including genetic polymorphism, to identify risk factors associated with development of hyperammonemia during valproic acid-based therapy; found CPS1 4217C>A polymorphism may not be associated with development of hyperammonemia in Japanese population PMID: 24888247
    16. Findings support the disease-causing role of the mutations reported to affect the CPS1 deficiency, revealing a key role of the small CPS1 domain of unknown function (UFSD) for proper enzyme folding. PMID: 24813853
    17. CPS1 becomes readily detectable upon hepatocyte apoptotic and necrotic death. Its abundance and short serum half-life suggest that it may be a useful prognostic biomarker in acute liver injury. PMID: 24924744
    18. Data show that carbamoyl phosphate synthetase 1, an enzyme involved in the urea cycle, 8-oxoguanine DNA glycosylase 1 and DNA polymerase beta, enzymes involved in DNA repair, were expressed at higher levels in Batten disease cells than in normal cells. PMID: 22692827
    19. the human CPS unknown function domains are spatially located in a region that corresponds to the a/b subunits interface in Escherichia coli CPS. [Review] PMID: 22521883
    20. Mutation analysis in these patients identified 17 genetic lesions, 9 of which were new confirming their "private" nature. PMID: 22173106
    21. Case Report: Late-onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantation. PMID: 21837743
    22. This is the first large-scale report of CPS1 mutations spanning a wide variety of molecular defects highlighting important regions in this protein. PMID: 21120950
    23. DNA methylation is a key mechanism of silencing CPS1 expression in human hepatocellular carcinoma cells. PMID: 21281797
    24. structure-function analysis and pathogenicity-testing of mutations in CPS1 PMID: 20800523
    25. Data reported five of the CPS1 mutations (p.T471N, p.Q678P, p.P774L, p.R1453Q, and p.R1453W) in severe CPS1D patients. PMID: 20578160
    26. The present study in preterm infants did not confirm the earlier reported association between CPS1 genotype and L-arginine levels in term infants. PMID: 20520828
    27. These data confirm a recent finding that CPS1 is a locus influencing homocysteine levels in women and suggest that genetic effects on Hcy may differ across developmental stages. PMID: 20154341
    28. Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 20383146
    29. Observational study and genome-wide association study of gene-disease association and gene-gene interaction. (HuGE Navigator) PMID: 20154341
    30. CPS1, MUT, NOX4, and DPEP1 is associated with plasma homocysteine in healthy Women. PMID: 20031578
    31. Allelic imbalance may explain clinical variability in CPS1 deficiency in some families. PMID: 19793055
    32. The entire DNA sequence of the human CPS1 gene is presented, including all exon-intron boundaries. PMID: 12655559
    33. CPSI T1405N genotype appears to be an important new factor in predicting susceptibility to pulmonry hypertension following surgical repair of congenital cardiac defects in children. PMID: 17188582
    34. CPPS1 T1404N polymorphism may be associated with the risk of necrotizing enterocolitis in preterm infants. PMID: 17597649
    35. Tight hydrogen binding mode is supported by the observation of reduced NAG affinity upon mutation of N-acetyl-L-glutamate-interacting residues of CPSI PMID: 19754428
    36. The differential expression of Hep Par 1(carbamoyl phosphate synthetase I) in dysplastic vs malignant tumors of the small intestine may be diagnostically useful in difficult cases. PMID: 19926579

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  • 相關(guān)疾病：
    Carbamoyl phosphate synthetase 1 deficiency (CPS1D); Pulmonary hypertension, neonatal (PHN)
  • 亞細(xì)胞定位：
    Mitochondrion. Nucleus, nucleolus.
  • 組織特異性：
    Primarily in the liver and small intestine.
  • 數(shù)據(jù)庫(kù)鏈接：

    HGNC: 2323

    OMIM: 237300

    KEGG: hsa:1373

    STRING: 9606.ENSP00000402608

    UniGene: Hs.149252



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