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  4. Recombinant Human Protein-serine O-palmitoleoyltransferase porcupine (PORCN), partial

Recombinant Human Protein-serine O-palmitoleoyltransferase porcupine (PORCN), partial

  • 中文名称：
    人PORCN重组蛋白
  • 货号：
    CSB-YP887958HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人PORCN重组蛋白
  • 货号：
    CSB-EP887958HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人PORCN重组蛋白
  • 货号：
    CSB-EP887958HU-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：
  • 中文名称：
    人PORCN重组蛋白
  • 货号：
    CSB-BP887958HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人PORCN重组蛋白
  • 货号：
    CSB-MP887958HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 别名：
    DHOF; FODH; MG61; MGC29687; por; PORC; PORCN; PORCN_HUMAN; PPN; Probable protein-cysteine N-palmitoyltransferase porcupine; Protein MG61
  • 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：
    Protein-serine O-palmitoleoyltransferase that acts as a key regulator of the Wnt signaling pathway by mediating the attachment of palmitoleate, a 16-carbon monounsaturated fatty acid (C16:1), to Wnt proteins. Serine palmitoleylation of WNT proteins is required for efficient binding to frizzled receptors.
  • 基因功能参考文献：
    1. Case Report: mosaicism for PORCN mutations in focal dermal hypoplasia (Goltz Syndrome). PMID: 28293688
    2. Data suggest that PORCN exhibits substrate specificity that includes a Wnt3a peptide fragment (residues 199-219, with disulfide bonds); recombinant PORCN containing a point mutation (R228C) associated with focal dermal hypoplasia exhibits impaired acylation activity toward Wnt3a peptide fragment. (PORCN = porcupine O-acyltransferase; Wnt3a = Wnt family member 3A) PMID: 28655768
    3. Inhibition of Wnt signaling by PORCN inhibition holds promise as differentiation therapy in genetically defined human cancers PMID: 26257057
    4. porcupine-mediated production of Wnts is context dependent and is not required for all Wnts production, suggesting that alternative mechanisms exist for Wnts production. PMID: 24647048
    5. We describe the first case of non-mosaic males affected with syndromic microphthalmia because of a non-synonymous variant in the PORCN gene. PMID: 25026905
    6. the Wnt amino acid residues required for recognition and palmitoylation by PORCN PMID: 25451226
    7. We describe the ophthalmologic findings in an 18-month-old boy with mosaicism of a novel mutation in PORCN. PMID: 24698628
    8. a novel variant in the PORCN gene (c.1250T>C:p.F417S) in the focal dermal hypoplasia with spinal anomaly PMID: 23696273
    9. We report a typical focal dermal hypoplasia (FDH) patient with a recurrent PORCN mutation, which was previously identified, and a second female, with an almost unilateral FDH and a novel postzygotic PORCN mutation. PMID: 23399492
    10. To the best of our knowledge, this is the second case report that reveals a mutation of the PORCN gene in a patient with almost unilateral focal dermal hypoplasia. PMID: 22735390
    11. PORCN protein thus appears to moonlight in a novel signaling pathway that is rate-limiting for cancer cell growth and tumorigenesis independent of its enzymatic function in Wnt biosynthesis and secretion PMID: 22509316
    12. review of the published mutations in the PORCN gene and report on 7 new mutations identified in Goltz-Gorlin syndrome patients PMID: 21472892
    13. 12 novel PORCN mutations and 6 previously reported mutations were found in 53 unrelated focal dermal hypoplasia patients. PMID: 20854095
    14. Porcupine might contribute to non-small cell lung carcinoma development by ranscriptional activation of cancer-related genes such as s100P. PMID: 20198348
    15. Three de novo mutations were identified in PORCN gene in patients with focal dermal hypoplasia. PMID: 19863546
    16. Sequence deletions and point mutations cause focal dermal hypoplasia. PMID: 17546030
    17. PORCN, encoding a putative O-acyltransferase potentially crucial for cellular export of Wnt signaling proteins, is the gene mutated in focal dermal hypoplasia. PMID: 17546031
    18. Overexpression of PORCN is associated with lung cancer PMID: 18193088
    19. 3 novel mutations in PORCN, c.373+1G>A, c.737_738insA & c.1094G>A (p.R365Q), were identified in focal dermal hypoplasia patients(FDH); study shows PORCN is gene responsible for FDH in different populations & extends number of confirmed mutations to 26 PMID: 18325042
    20. defective PORCN does not lead to selective growth disadvantage PMID: 19277062
    21. Molecular characterization of 24 unrelated patients from different ethnic backgrounds revealed 23 different mutations of the PORCN gene in Xp11.23. PMID: 19309688
    22. Mutations within the PORCN gene are associated with Goltz-Gorlin syndrome. PMID: 19586929
    23. Focal dermal hypoplasia illustrates the phenotypic consequences of defective modulation of Wnt signaling in utero and highlights the important roles of PORCN and Wnt signaling pathways in embryogenesis. PMID: 19681149

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  • 相关疾病：
    Focal dermal hypoplasia (FODH)
  • 亚细胞定位：
    Endoplasmic reticulum membrane; Multi-pass membrane protein.
  • 蛋白家族：
    Membrane-bound acyltransferase family, Porcupine subfamily
  • 组织特异性：
    Isoform 1 is expressed in fetal brain, brain, amygdala, caudate nucleus, cerebellum, hippocampus, pituitary, thalamus, heart, skeletal muscle and testis. Isoform 4 is expressed in amygdala, corpus callosum, hippocampus, spinal cord, kidney, liver, lung, s
  • 数据库链接：

    HGNC: 17652

    OMIM: 300651

    KEGG: hsa:64840

    STRING: 9606.ENSP00000322304

    UniGene: Hs.386453