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  4. Recombinant Human Nicastrin (NCSTN), partial

Recombinant Human Nicastrin (NCSTN), partial

  • 货号：
    CSB-YP015600HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP015600HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP015600HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 货号：
    CSB-BP015600HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP015600HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 别名：
    Anterior pharynx defective 2; APH 2; APH2; ATAG1874; KIAA0253; Ncstn; NCT; NICA_HUMAN; Nicastrin; RP11 517F10.1; RP11517F101
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    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.
  • 复溶：
    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℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    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.
  • 货期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels.
  • 基因功能参考文献：
    1. Identification of a novel deletion mutation in exon 4 of NCSTN, which may underlie the molecular pathogenesis in this Acne inversa family. PMID: 30030622
    2. A physical interaction between nicastrin (hNCT) and the gamma-secretase substrate amyloid beta-protein precursor (APPC100) confirmed the functionality of hNCT as a substrate recognizer. PMID: 28276527
    3. The results show no differences in the decreased levels of inflammatory factors between patients with and without NCSTN mutations. This result may indicate that NCSTN mutations have no direct effect on inflammatory cells in the process of cytokine production. PMID: 27639175
    4. The s identified two nonsynonymous mutations in NCSTN in a white population, one of which had previously been described in African American and Chinese patients with HS. In addition, several intronic polymorphisms within the NCSTN were identified that were present at a significantly higher frequency in the HS population. PMID: 26879264
    5. The results lead the investigators to speculate that NCSTN may be one of the genes determining the clinical phenotype of follicular HS . PMID: 26522179
    6. Loss of function of nicastrin impacts on cell proliferation and differentiation-associated signalling pathways in a keratinocyte cell line. PMID: 26473517
    7. analysis of two novel mutations segregating with familial hidradenitis suppurativa (acne inversa) and acne conglobate in NCSTN PMID: 26663538
    8. Case Report: large Chinese family harboring novel NCSTN mutation associated with acne inversa. PMID: 26463457
    9. Nicastrin mutation is associated with schizophrenia. PMID: 27008863
    10. haploinsufficiency of the NCSTN gene caused by the nonsense mutation c.1258C>T (p.Q420X) contributes to the occurrence of hidradenitis suppurativa in this family. PMID: 26224166
    11. The "Lid" domain of nicastrin is not essential for regulating gamma-secretase activity. PMID: 26887941
    12. SNPs in Notch pathway genes may be predictors of cutaneous melanoma disease-specific survival. PMID: 25953768
    13. Tumor necrosis factor-alpha and interleukin-10 levels were elevated in acne inversa patients with nicastrin or presenilin enhancer mutation. PMID: 26067312
    14. A strategy focused on MAPT, APP, NCSTN and BACE1 to build blood classifiers for Alzheimer's disease. PMID: 25863267
    15. Akt1 phosphorylates NCT at Ser437, significantly reducing NCT stability. A phospho-deficient mutation in NCT at Ser437 stabilized its protein levels. PMID: 25996556
    16. atomic structure of human gamma-secretase at 3.4 A resolution, determined by single-particle cryo-electron microscopy PMID: 26280335
    17. We suggest that this is the first description of an NCSTN nonsense mutation causing autosomal dominant hidradenitis suppurativa in an African American family. PMID: 25693063
    18. analysis of how the conformation of presenilin, Pen-2, Aph-1, and nicastrin affect the function and mechanism of gamma-secretase PMID: 25918421
    19. High nicastrin expression is associated with invasive breast cancer. PMID: 25248409
    20. Analysis of nicastrin structure provides insights into the assembly and architecture of the gamma-secretase complex. PMID: 25197054
    21. This paper demonstrated that Nicastrin and Notch4 are key molecules involved in resistance to endocrine therapy. The data suggest that targeting Notch4 and Nicastrin is a potential approach to reverse endocrine resistance in breast cancer patients. PMID: 24919951
    22. OCIAD2 also increased the interaction of nicastrin with C99 and stimulated APP processing via gamma-secretase activation, but did not affect Notch processing PMID: 24270855
    23. Two heterozygous missense mutations, c.647A>C (p.Q216P) in the exon 6, and c.223G>A (p.V75I) in the exon 3 of the NCSTN gene, were identified in the two families PMID: 22759192
    24. wild-type human nicastrin overexpression in transgenic mice promoted active assembly of the gamma-secretase complex through modulation of APP processing and behavior. PMID: 23595812
    25. Sequencing results showed that a heterozygous single nucleotide mutation c.1258C>T in exon 11 of NCSTN PMID: 23517242
    26. Generation of amyloid-beta is reduced by the interaction of calreticulin with amyloid precursor protein, presenilin and nicastrin. PMID: 23585889
    27. A review of mutations in the gamma-secretase genes NCSTN, PSENEN, and PSEN1 and the role of gamma-secretase in cutaneous biology and, more specifically in hidradenitis suppurativa. PMID: 23096707
    28. Results show that a splice site mutation in NCSTN protein, a gene encoding gamma secretase is implicated in the pathogenesis of hidradenitis suppurativa PMID: 22834455
    29. Mutations in the gamma-secretase genes NCSTN, PSENEN, and PSEN1 underlie rare forms of hidradenitis suppurativa (acne inversa). PMID: 22622421
    30. Finding suggest the development of nicastrin-targeted therapies in breast cancer. PMID: 23012411
    31. The gamma-secretase substrate receptor, nicastrin, was found to be modified by 4-hydroxynonenal in cultured neurons and in brain specimens from patients with Alzheimer's disease. PMID: 22404891
    32. Nicastrin is an essential component in the activation of gama-selectase complex. Its physical function and molecular genetic studies have been reveiwed. PMID: 22787765
    33. We therefore conclude that it is unlikely that common variation at the NCSTN locus is a risk factor for Alzheimer's disease. PMID: 22405046
    34. SGK1 is a gamma-secretase regulator presumably effective through phosphorylation and degradation of NCT. PMID: 22590650
    35. Data suggest that nicastrin functions as a "substrate receptor" within the gamma-secretase complex. PMID: 22586122
    36. We found three new mutations in nicastrin in hidradenitis suppurativa in French families. PMID: 22358060
    37. Data suggest that nicastrin (NCT) is a molecular target for the mechanism-based inhibition of gamma-secretase. PMID: 21725355
    38. Down-regulation of the ATP-binding cassette transporter 2 (Abca2) reduces amyloid-beta production by altering Nicastrin maturation and intracellular localization. PMID: 22086926
    39. The Nicastrin ectodomain has an exceptionally high propensity to refold after thermal denaturation. PMID: 21848507
    40. The pathogenic nature of these two mutations provides further evidence that the NCSTN gene is the disease gene of acne inversa PMID: 21495993
    41. confirmed the gene NCSTN is responsible for acne inversa by combining exome sequencing with previous genome-wide linkage analysis PMID: 21430701
    42. Deep sequencing of the Nicastrin gene in pooled DNA, the identification of genetic variants that affect risk of Alzheimer's disease. PMID: 21364883
    43. NCSTN and PSENEN, are involved in the pathogenesis of some familial hidradenitis suppurativa (Acne Inversa). PMID: 21412258
    44. Nicastrin can function to maintain epithelial to mesenchymal transition during breast cancer progression. PMID: 20224929
    45. study found independent loss-of-function mutations in PSENEN, PSEN1, or NCSTN in 6 Chinese acne inversa (AI) families; results identify the gamma-secretase component genes as culprits for a subset of familial AI PMID: 20929727
    46. Reduction in amyloid deposits is found in the forebrain of transgenic mice expressing S-palmitoylation-deficient nicastrin. PMID: 21123562
    47. Results indicate that the rs10752637 single-nucleotide polymorphism can likely influence the expression of nicastrin, and that this may be an influencing factor during the pathogenesis of Alzheimer's disease. PMID: 19840113
    48. nicastrin does not display aminopeptidase M- and B-like activities PMID: 11726200
    49. cell surface accumulation caused by presenilin 1 PMID: 11943765
    50. The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample PMID: 11992262

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  • 相关疾病：
    Acne inversa, familial, 1 (ACNINV1)
  • 亚细胞定位：
    Membrane; Single-pass type I membrane protein. Cytoplasmic vesicle membrane; Single-pass type I membrane protein. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
  • 蛋白家族：
    Nicastrin family
  • 组织特异性：
    Detected in brain (at protein level). Widely expressed.
  • 数据库链接：

    HGNC: 17091

    OMIM: 142690

    KEGG: hsa:23385

    STRING: 9606.ENSP00000294785

    UniGene: Hs.517249