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  4. POT1 Antibody

POT1 Antibody

  • 货号：
    CSB-PA018382GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q9NUX5
  • 基因名：
  • 别名：
    DKFZP586D211 antibody; hPot 1 antibody; hPot1 antibody; POT 1 antibody; POT1 antibody; POT1 like telomere end-binding protein antibody; POT1 protection of telomeres 1 homolog antibody; POT1-like telomere end-binding protein antibody; POTE1_HUMAN antibody; Protection of telomeres 1 antibody; Protection of telomeres 1 homolog (S. pombe) antibody; Protection of telomeres protein 1 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse
  • 免疫原：
    Human POT1
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity Purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,IHC
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 功能：
    Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. Is a component of the double-stranded telomeric DNA-binding TRF1 complex which is involved in the regulation of telomere length by cis-inhibition of telomerase. Also acts as a single-stranded telomeric DNA-binding protein and thus may act as a downstream effector of the TRF1 complex and may transduce information about telomere maintenance and/or length to the telomere terminus. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Binds to two or more telomeric single-stranded 5'-TTAGGG-3' repeats (G-strand) and with high specificity to a minimal telomeric single-stranded 5'-TAGGGTTAG-3' sequence. Binds telomeric single-stranded sequences internally or at proximity of a 3'-end. Its activity is TERT dependent but it does not increase TERT activity by itself. In contrast, the ACD-POT1 heterodimer enhances telomere elongation by increasing telomerase processivity.
  • 基因功能参考文献：
    1. POT1 was identified at 70 kDa in biopsy tissue of cervical cancer patients and its level was higher than that in normal cervical smears; the high level of POT1 in the biopsy tissue of cervical cancer patients showed the influence of this shelterin component in cervical carcinogenesis and also cell immortalization PMID: 28425274
    2. A defective POT1-TPP1 complex leads to longer and fragile telomeres, which in turn promotes genomic instability and cancer. PMID: 28393830
    3. several missense mutations in human cancers that disrupt the POT1C-TPP1 interaction, resulting in POT1 instability, were identified. PMID: 28393832
    4. melanoma associated POT1 germline variants seem to be rare. PMID: 29523635
    5. Results indicate that lenti-shRNA-mediated POT1-KD significantly reduced POT1 mRNA and protein expression. POT1-KD immediately downregulated c-Myc expression, which led to the inhibition of cell proliferation, tumorigenesis, and HDACi response PMID: 29546066
    6. A role of POT1 germline mutations in cancer predisposition beyond melanoma development PMID: 28389767
    7. study suggests that, gallstone does not affect telomere length and even after having increased telomere length, decreased expression of some shelterin genes in inflamed tissue might cause telomeres to cap improperly, possibly leading to telomere dysfunction and further, gallbladder carcinogenesis PMID: 28643740
    8. loss-of-function mutations in protection of telomeres 1 (POT1) co-segregated with Chronic lymphocytic leukemia. PMID: 27528712
    9. hPOT1 OB-folds are required to protect and prevent newly replicated telomeres from engaging in Alternative non-homologous end joining mediated fusions that would otherwise promote genome instability to fuel tumorigenesis. PMID: 27869160
    10. the study identifies mutations in KRAS and POT1 as novel determinants of outcome after chemoimmunotherapy using chlorambucil and anti-CD20 treatment. PMID: 27226433
    11. Binding of POT1-TPP1 unfolds telomere secondary structure to assist loading of additional heterodimers. PMID: 27173378
    12. Coats plus is caused by a defect in POT1/CST-dependent telomere fill-in PMID: 27013236
    13. Downregulation of Protection of Telomeres 1 expression in myelodysplastic syndromes with 7q deletion. PMID: 26105212
    14. The conservation between fission yeast Tpz1-Pot1 and human TPP1-POT1 interactions resulted in mapping a human melanoma-associated POT1 mutation (A532P) to the TPP1-POT1 interface. PMID: 26365187
    15. Missense variant p.R117C is associated with cardiac angiosarcoma in TP-53 negative Li-Fraumeni-like families. Mutation carriers show reduced telomere-bound POT1 levels, abnormally long telomeres and increased telomere fragility. PMID: 26403419
    16. OB-fold domain 1 of human POT1 recognizes both telomeric and non-telomeric DNA motifs PMID: 25934589
    17. these data provide a molecular basis by which POT1-TPP1 increases the processivity of telomerase15. Further, we show that this increased processivity may arise from the dynamic sliding of POT1-TPP1 that induces fast translocation of telomerase. PMID: 25263700
    18. The clinicopathological findings differed in the expression of hPOT1. PMID: 25194444
    19. Expression of shelterin component POT1 is associated with decreased telomere length and immunity condition in humans with severe aplastic anemia. PMID: 24892036
    20. TMPyP4 (meso-tetra(N-methyl-4-pyridyl)porphine) has been widely used as G-quadruplex binding ligand, which stabilized the G-quadruplex in vitro and in cellulo, resulting in down-regulation of pot1 gene transcription. PMID: 24631651
    21. the participation of POT1 in the transformation process from MGUS to MM, and provide evidence of this gene as a useful prognostic factor in MM as well as a possible molecular target to design new therapeutic strategies. PMID: 24239198
    22. Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma. PMID: 24686846
    23. POT1 loss-of-function variants predispose to melanoma formation via a direct effect on telomeres. PMID: 24686849
    24. study found POT1 exists in at least 3 forms;90,70 and 45kD;abundance of the POT1 forms can be altered by modulation of POT1 nuclear localization; evidence that there are posttranslational modifications of POT1 that can affect its molecular weight, intracellular localization and function PMID: 24054699
    25. G-quadruplex formation of telomeres significantly enhances the ability of POT1/TPP1 to block RPA's access to telomeres. PMID: 24516170
    26. POT1-TPP1 binds telomeric DNA in a coordinated manner to facilitate assembly of the nucleoprotein complexes into a state that is more accessible to enzymatic activity. PMID: 23616058
    27. Gene variation of pot1 Exon14 is associated with endometrial cancer PMID: 23317234
    28. POT1 mutations cause telomere dysfunction and is associated with chronic lymphocytic leukemia. PMID: 23502782
    29. The POT1 stimulates the binding and enzymatic activities of the LP-BER proteins APE1, FEN1 and LigI both individually and when they act together in reconstituted LP-BER using a telomeric substrate. PMID: 22336916
    30. The effects of hPOT1 RNAi seem to be functionally linked to up-regulation of PinX1 and down-regulation of hTERT. PMID: 21778296
    31. Mouse gene deletion experiments revealed DNA-damage-response pathways that threaten chromosome ends and how the components of the telomeric shelterin complex prevent activation of these pathways.[Shelterin] PMID: 21209389
    32. These results suggest that FOXP2 is a binding partner for the nuclear translocation of POT1. PMID: 21684252
    33. The human POT1-TPP1 complex is a processivity factor for telomerase. PMID: 21461822
    34. telomeric tails rarely form the maximum potential number of G4 units provides a structural basis for the coexistence of G4 and POT1 on the same DNA molecule PMID: 21183684
    35. data suggest that hnRNPA1, TERRA and POT1 act in concert to displace RPA from telomeric ssDNA after DNA replication, and promote telomere capping to preserve genomic integrity PMID: 21399625
    36. the protein network surrounding telomere repeat binding factors, TRF1, TRF2, and POT1 using dual-tag affinity purification PMID: 20811636
    37. Results support a model in which POT1-TPP1 enhances telomerase processivity in a manner markedly different from the sliding clamps used by DNA polymerases. PMID: 20094033
    38. Four single nucleotide polymorphisms in the TERT and POT1 genes were significantly related with overall breast cancer risk. PMID: 20056641
    39. Data support RPA enhancement of branch migration during homologous recombination repair and, conversely, POT1 limitation of inappropriate recombination and branch migration at telomeric ends. PMID: 19812417
    40. Data show that epitope-tagged human protection of telomeres protein (Pot1) localizes to telomeres in interphase nuclei of human cells, consistent with a direct role in telomere end protection. PMID: 12391173
    41. the interaction between the TRF1 complex and POT1 affects the loading of POT1 on the single-stranded telomeric DNA, thus transmitting information about telomere length to the telomere terminus, where telomerase is regulated PMID: 12768206
    42. hPOT1 can act as a telomerase-dependent, positive regulator of telomere length PMID: 12781132
    43. POT1 has a strong sequence preference for the human telomeric repeat tract and can bind both the 3' telomeric overhang and the displaced TTAGGG repeats at the base of the t-loop PMID: 14715659
    44. Changes in POT1 expression levels may be associated with stomach carcinogenesis and progression. PMID: 14744765
    45. Data show that a DAT domain mutant of hTERT is efficiently rescued upon fusion to hPot1. PMID: 15060173
    46. PTOP heterodimerizes with POT1 and regulates POT1 telomeric recruitment and telomere length. PMID: 15181449
    47. crystal structure at a resolution of 1.73 A of the N-terminal half of human POT1 (hPOT1) protein bound to a telomeric single-stranded DNA (ssDNA) decamer, TTAGGGTTAG, the minimum tight-binding sequence indicated by in vitro binding assays PMID: 15558049
    48. Pot1 protects chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. PMID: 15620654
    49. Data show that protection of telomeres 1 (POT1) negatively affects telomerase activity in vitro, and that the DNA binding activity of POT1 is required for telomerase inhibition. PMID: 15632080
    50. The reduction of POT1 by RNA interference led to the loss of telomeric single-stranded overhangs and induced apoptosis, chromosomal instability, and senescence in cells. PMID: 15657433

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  • 相关疾病：
    Melanoma, cutaneous malignant 10 (CMM10); Glioma 9 (GLM9)
  • 亚细胞定位：
    Nucleus. Chromosome, telomere. Note=Colocalizes with telomeric DNA.
  • 蛋白家族：
    Telombin family
  • 组织特异性：
    Ubiquitous.
  • 数据库链接：

    HGNC: 17284

    OMIM: 606478

    KEGG: hsa:25913

    STRING: 9606.ENSP00000350249

    UniGene: Hs.31968