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  4. Recombinant Human APC membrane recruitment protein 1 (FAM123B), partial

Recombinant Human APC membrane recruitment protein 1 (FAM123B), partial

  • 中文名稱：
    Recombinant Human APC membrane recruitment protein 1(FAM123B) ,partial
  • 貨號：
    CSB-YP683359HU
  • 規格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    Recombinant Human APC membrane recruitment protein 1(FAM123B) ,partial
  • 貨號：
    CSB-EP683359HU
  • 規格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    Recombinant Human APC membrane recruitment protein 1(FAM123B) ,partial
  • 貨號：
    CSB-EP683359HU-B
  • 規格：
  • 來源：
    E.coli
  • 共軛：
    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：
  • 中文名稱：
    Recombinant Human APC membrane recruitment protein 1(FAM123B) ,partial
  • 貨號：
    CSB-BP683359HU
  • 規格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    Recombinant Human APC membrane recruitment protein 1(FAM123B) ,partial
  • 貨號：
    CSB-MP683359HU
  • 規格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 別名：
    AMER1; FAM123B; WTXAPC membrane recruitment protein 1; Amer1; Protein FAM123B; Wilms tumor gene on the X chromosome protein
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Partial
  • 蛋白標簽：
    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.
  • 產品提供形式：
    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.
  • 復溶：
    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.
  • 儲存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質期：
    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：
    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.
  • 注意事項：
    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.

產品評價

靶點詳情

  • 功能：
    Regulator of the canonical Wnt signaling pathway. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signaling pathway, such as components of the beta-catenin destruction complex. Acts both as a positive and negative regulator of the Wnt signaling pathway, depending on the context: acts as a positive regulator by promoting LRP6 phosphorylation. Also acts as a negative regulator by acting as a scaffold protein for the beta-catenin destruction complex and promoting stabilization of Axin at the cell membrane. Promotes CTNNB1 ubiquitination and degradation. Involved in kidney development.
  • 基因功能參考文獻：
    1. A novel heterozygous frameshift mutation in AMER1 was identified in a patient with osteopathia striata with cranial sclerosis. PMID: 28893644
    2. Losses of AMER1 by other mechanisms apart from mutations. PMID: 26071483
    3. A nonsense mutation (c.1045C>T, p.Glu349*) in the WTX gene. PMID: 24459086
    4. WTX inactivation occurs in a wider variety of tumor types than previously appreciated and point to shared pathogenic mechanisms between a subset of pediatric malignancies. PMID: 24249259
    5. Data indicate that osteopathia striata congenita with cranial sclerosis (OSCS) iscaused by germline deletions of in the X-linked gene WTX (FAM123B, AMER1). PMID: 22670894
    6. Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis. PMID: 20950377
    7. Stat3 inhibits WTX expression through up-regulation of micro RNA-370 in Wilms tumor. PMID: 23333300
    8. Osteopathia striata with cranial sclerosis or Horan-Beighton syndrome is a rare X-linked dominant inherited bone dysplasia. Genetic analysis allowed the identification of maternally transmitted heterozygous nonsense c.1057C>T (p.R353X) WTX mutation. PMID: 22716240
    9. WTX mutations occur early in Wilms' tumor development, but at a low proportion. There was no evidence that WTX is the main cause of Wilms' tumor. PMID: 22800892
    10. WTX modulates p53 function, in part through regulation of its activator CBP/p300. PMID: 22285752
    11. WTX and NRF2 compete for binding to KEAP1, and thus loss of WTX leads to rapid ubiquitination and degradation of NRF2 and a reduced response to cytotoxic insult. PMID: 22215675
    12. Amer1 exerts its negative regulatory role in Wnt signaling by acting as a scaffold protein for the beta-catenin destruction complex and promoting stabilization of Axin at the plasma membrane. PMID: 21498506
    13. WTX mutations can arise both early and late in Wilms tumour development PMID: 20679664
    14. When gene expression changes mediated by wild-type WTX were compared with those affected by mutant WTX, WTX565 had a 55% overlap in differentially regulated genes, whereas WTX358 regulated only two genes affected by wild-type WTX. PMID: 20956941
    15. Mutations in the WTX-gene are associated with high-grade microsatellite instable colorectal cancers. PMID: 20696052
    16. inactivation of WTX appears to be a late event in tumorigenesis of nephroblastoma in a subgroup of nephroblastomas PMID: 19757195
    17. All investigated families diagnosed with Osteopathia striata with cranial sclerosis had WTX gene defects. PMID: 20209645
    18. WTX, is inactivated in approximately one-third of Wilms tumors; it is inactivated by a monoallelic "single-hit" event targeting the single X chromosome in tumors from males and the active X chromosome in tumors from females PMID: 17204608
    19. findings show that WTX, a protein encoded by a gene mutated in Wilms tumors, forms a complex with beta-catenin, AXIN1, beta-TrCP2 and APC; data provide a possible mechanistic explanation for the tumor suppressor activity of WTX PMID: 17510365
    20. Deletion of the WTX gene is associated with Wilms' tumor with a balanced translocation t(X;18) PMID: 17620295
    21. These data indicate that AMER1 controls the subcellular distribution of APC between membrane- and microtubule-associated pools, and might thereby regulate APC-dependent cellular morphogenesis, cell migration and cell-cell adhesion. PMID: 17925383
    22. Gene has a tumor suppressor function in Wilms tumors, and is involved in beta-catenin destruction. PMID: 18021721
    23. WT1 and WTX mutations occur with similar frequency, that they partially overlap in Wilms tumors, and that mutations in WT1, WTX, and CTNNB1 underlie the genetic basis of about one-third of Wilms tumors PMID: 18311776
    24. Functional inactivation of the WTX gene is not a frequent event in Wilms' tumors. PMID: 18391980
    25. there was not any evidence of WTX mutation in the 143 acute leukemia patients PMID: 18452086
    26. WTX is rarely mutated in acute myeloid leukemia PMID: 18460646
    27. Data indicate that WTX mutation is rare in colorectal, gastric, and hepatocellular carcinomas. PMID: 18720004
    28. The observed phenotypic discordance dependent upon whether a mutation is germline or occurs somatically suggests the existence of temporal or spatial constraints on the action of WTX during tumorigenesis. PMID: 19079258
    29. Mutations in WTX gene is associated with Wilms tumor. PMID: 19137020
    30. WTX binds WT1 and enhances WT1-mediated transcription, suggesting a role for WTX in nuclear pathways implicated in the transcriptional regulation of cellular differentiation programs PMID: 19416806
    31. WTX inactivation is associated with Wilms tumors PMID: 19760609

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  • 相關疾病：
    Osteopathia striata with cranial sclerosis (OSCS)
  • 亞細胞定位：
    Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Nucleus. Note=Shuttles between nucleus and cytoplasm. Detected in nuclear paraspeckles that are found close to splicing speckles. Translocates to the cell membrane following binding to PtdIns(4,5)P2.
  • 蛋白家族：
    Amer family
  • 組織特異性：
    Detected in fetal and adult kidney, brain and spleen.
  • 數據庫鏈接：

    HGNC: 26837

    OMIM: 300373

    KEGG: hsa:139285

    STRING: 9606.ENSP00000329117

    UniGene: Hs.314225



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