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Recombinant Human Putative Polycomb group protein ASXL1 (ASXL1), partial

  • 中文名稱:
    Recombinant Human Putative Polycomb group protein ASXL1(ASXL1) ,partial
  • 貨號:
    CSB-YP809007HU
  • 規格:
  • 來源:
    Yeast
  • 其他:
  • 中文名稱:
    Recombinant Human Putative Polycomb group protein ASXL1(ASXL1) ,partial
  • 貨號:
    CSB-EP809007HU
  • 規格:
  • 來源:
    E.coli
  • 其他:
  • 中文名稱:
    Recombinant Human Putative Polycomb group protein ASXL1(ASXL1) ,partial
  • 貨號:
    CSB-EP809007HU-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 Putative Polycomb group protein ASXL1(ASXL1) ,partial
  • 貨號:
    CSB-BP809007HU
  • 規格:
  • 來源:
    Baculovirus
  • 其他:
  • 中文名稱:
    Recombinant Human Putative Polycomb group protein ASXL1(ASXL1) ,partial
  • 貨號:
    CSB-MP809007HU
  • 規格:
  • 來源:
    Mammalian cell
  • 其他:

產品詳情

  • 純度:
    >85% (SDS-PAGE)
  • 基因名:
  • Uniprot No.:
  • 別名:
    Additional sex combs like 1 (Drosophila); Additional sex combs like protein 1; Additional sex combs-like protein 1; ASXL1; ASXL1_HUMAN; KIAA0978; Putative Polycomb group protein ASXL1
  • 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:
    Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG). Acts as coactivator of RARA and RXRA through association with NCOA1. Acts as corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity. Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1). Acts as a sensor of N(6)-methyladenosine methylation on DNA (m6A): recognizes and binds m6A DNA, leading to its ubiquitination and degradation by TRIP12, thereby inactivating the PR-DUB complex and regulating Polycomb silencing.
  • 基因功能參考文獻:
    1. Mutant ASXL1 cooperates with BAP1 to promote myeloid leukemogenesis. PMID: 30013160
    2. Identification of driver and subclonal mutations in ASXL1 and IDH1/IDH2 genes in an Argentine series of patients with myelofibrosis. PMID: 29761621
    3. very particular "pre-CMML"-MDS cases seem to be well characterized by enhanced genetic instability, justifying multiple co-mutations, and by the constant feature of early ASXL1 mutation. PMID: 28522578
    4. There were no significant differences between the clinical and laboratory characteristics of ASXL1-mutated (ASXL1) chronic myelomonocytic leukemia and ASXL1-nonmutated (ASXL1) chronic myelomonocytic leukemia patients. PMID: 30027691
    5. Data indicate that additional Sex Comb-Like 1 protein (ASXL1)-mut were associated with poor prognosis in de novo AML with trisomy 8 as the sole aberration. PMID: 27736271
    6. our data further validate the prognostic role of ASXL1 mutations in chronic myelomonocytic leukemia PMID: 29176559
    7. The authors demonstrate that BAP1 deubiquitinase activity and its association with ASXL1 to form the Polycomb repressive deubiquitinase complex (PR-DUB) impacts TRAIL sensitivity implicating transcriptional modulation as an underlying mechanism. PMID: 29345617
    8. Prognostic interaction between bone marrow morphology and SF3B1 and ASXL1 mutations in myelodysplastic syndromes with ring sideroblasts PMID: 29434284
    9. EZH2 mutations in chronic myelomonocytic leukemia cluster with ASXL1 mutations and their co-occurrence is prognostically detrimental. PMID: 29358618
    10. Transcriptome analysis revealed that ASXL1 mutations altered differentiation of U937 cells by disturbing genes involved in myeloid differentiation. PMID: 29532865
    11. This study identifies the unique role of JAG1-induced Notch activation in the pathogenesis of multiple myeloma. This is of significant clinical relevance due to the prevalence of truncating ASXL1 mutations and their effect on clinical outcome in patients with myeloid malignancies PMID: 29242575
    12. Evidence of a key role for ASXL1 in erythropoiesis, ASXL1 loss hinders erythroid development/maturation. PMID: 27352931
    13. Patients harbouring ASXL1 and/or CBL mutations (n = 8, 8 deaths, median OS = 11 months) had a significantly worse OS as compared to those without either mutation (n = 11, 4 deaths, median OS = 84 months) (P = 0.0002) (Fig 1a). PMID: 26628266
    14. Hypermethylation of the CTNNA1 promoter was associated with unfavorable karyotype, and possessed the higher frequency of coexisting with ASXL1 and RUNX1 mutations. PMID: 27129146
    15. Mutations in genes associated with epigenetic regulations such as DNMT3A and ASXL1 seem to play an important role in the pathogenesis of CML progression and TKI-resistance independent of ABL1 KD mutations PMID: 28667884
    16. mutations in the SRSF2/ASXL1/RUNX1 gene panel identified as significant prognostic markers in systemic mastocytosis PMID: 27416984
    17. It was found that the absence of mutations in the SRSF2, ASXL1, and/or RUNX1gene panel at baseline and a reduction of the KIT D816V allele burden more than 25% at month 6 are the most favorable predictors for improved survival in midostaurin-treated advanced systemic mastocytosis patients. PMID: 28424161
    18. Mutation in ASXL1 gene is associated with chronic myelomonocytic leukemia. PMID: 27385790
    19. ASXL1 mutation is associated with acute myeloid leukemia. PMID: 28063196
    20. We examined all ASXL1 truncating variants in the ExAC database and determined most are likely somatic. Failure to consider somatic mosaicism may lead to the inaccurate assumption that conditions like BOS have reduced penetrance, or the misclassification of potentially pathogenic variants. PMID: 28229513
    21. ASXL1 Circular RNA is Produced by Splicing from its pre-mRNA. PMID: 27736885
    22. We conclude that ASXL1 is essential for erythroid development and differentiation and that the aberrant differentiation is, at least in part, facilitated via PRC2. PMID: 27616637
    23. Demonstration of ASXL1 mutation, a putative tumor suppressor gene, represents an important molecular abnormality in CML. Authors also showed that concomitant detection of BCR-ABL and JAK2V617F mutations has a relatively high incidence in Iranian patients. PMID: 27640403
    24. This study showed ASXL1 exon 12 mutations in 16 of 70 (23%) patients with myelofibrosis, with 11 different mutations found in these patients. PMID: 26714837
    25. Mutations in ASXL1, U2AF1, and SF3B1 are common in Chinese patients with myelodysplastic syndromes. PMID: 26508027
    26. ASXL1 germline missense substitution is associated with hematological malignancies. PMID: 26286068
    27. identified significant ASXL1 SNPs in Chinese patients with acquired aplastic anemia (AA); results showed 8.2% had the recurrent conjoined rs62206933, rs117901891 and rs74638057 genotype (WT1), which was closely associated with poor prognosis in patients with nonsevere AA and had a greater risk of transformation to myelodysplastic syndrome PMID: 26234322
    28. Correction of ASXL1 driver mutation in leukemia cells using CRISPR/Cas increases survival in vivo in mice. PMID: 26623729
    29. Frameshift mutation in the ASXL1 gene is associated with Bohring-Opitz syndrome. PMID: 26364555
    30. De novo mutation in ASXL1 gene is associated with Bohring-Opitz syndrome. PMID: 26768331
    31. Tumor suppressor ASXL1 is essential for the activation of INK4B expression in response to oncogene activity and anti-proliferative signals PMID: 26470845
    32. the present results indicate that the truncating ASXL1 mutant is indeed expressed in MDS cells and may play a role in MDS pathogenesis not previously considered. PMID: 26700326
    33. Chronic myelomonocytic leukemia has an inherent tendency to transform to acute myeloid leukemia. Gene mutations involving ASXL1 are frequent and identified to have an independent negative prognostic effect on overall survival. PMID: 26848006
    34. This study showed that the BAP1 C-terminal extension is important for H2A deubiquitination but needs to be activated by the DEUBAD domains of ASXL1 or its relatives. PMID: 26739236
    35. Somatic mutations in ASXL1 are associated with myeloid malignancies. PMID: 25921057
    36. ASXL1 and TP53 mutations identify two molecular subgroups among AML-MRCs, with specific poor prognosis. This could be useful for future diagnostic and prognostic classifications. PMID: 25860933
    37. Data show that additional sex combs like 1 (Drosophila) protein (ASXL1) mutational status can improve the risk stratification of patients with acute myeloid leukemia in the setting of integrated mutational profiling. PMID: 25308295
    38. ASXL1 truncation mutations confer gain-of-function on the ASXL-BAP1 complex. PMID: 26095772
    39. Data indicate that 8 of 190 patients with essential thrombocythemia with calreticulin (CALR) mutation had an additional Sex Comb-Like 1 protein (ASXL1) mutation. PMID: 25005031
    40. USP7 demonstrated that USP7 bound to both ASXL1-WT and ASXL1-MT PMID: 25836587
    41. ASXL1, ASXL2 and ASXL3 are epigenetic scaffold proteins that are involved in the pathogenesis of non-cancerous diseases and cancers. [Review] PMID: 25835095
    42. Mutations in ASXL1 gene is associated with chronic neutrophilic leukemia, atypical chronic myeloid leukemia, and chronic myelomonocytic leukemia. PMID: 25239264
    43. ASXL1 mutation, particularly in the context of a coexisting RUNX1 mutation, constitutes a strong adverse prognostic factor in acute myeloid leukemia. PMID: 25596267
    44. The SETBP1 and ASXL1 mutations have pathogenetic roles in CSF3R-mutated chronic neutrophilic leukemia. PMID: 25850813
    45. The low incidence of mutations in younger patients with primary disease and the lack of significance indicate that there is a limited role for screening at diagnosis for ASXL1 mutations for the purpose of prognostic stratification. PMID: 23952244
    46. SETBP1 mutations are critical drivers of ASXL1-mutated myelodysplastic syndrome. PMID: 25306901
    47. The expression of ASXL1 and CALR predicts the survival and momelotinib drug response in myelofibrosis patients. PMID: 25322686
    48. ASXL1 mutations are associated with acute myeloid leukemia. PMID: 25592059
    49. The current study confirms the independent prognostic value of nonsense/frameshift ASXL1 mutations in chronic myelomonocytic leukemia and signifies its added value to the Mayo prognostic model. PMID: 24695057
    50. These observations signify immediate clinical relevance and warrant i) CALR and ASXL1 mutation determination in all patients with PMF and ii) molecular revision of DIPSS-plus. PMID: 24496303

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  • 相關疾病:
    Bohring-Opitz syndrome (BOPS); Myelodysplastic syndrome (MDS)
  • 亞細胞定位:
    Nucleus.
  • 蛋白家族:
    Asx family
  • 組織特異性:
    Widely expressed at low level. Expressed in heart, brain, skeletal muscle, placenta, pancreas, spleen, prostate, small intestine, colon, peripheral blood, leukocytes, bone marrow and fetal liver. Highly expressed in testes.
  • 數據庫鏈接:

    HGNC: 18318

    OMIM: 605039

    KEGG: hsa:171023

    STRING: 9606.ENSP00000364839

    UniGene: Hs.374043



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