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DKC1 Antibody

  • 货号：
    CSB-PA820074
  • 规格：
    ￥2024
  • 图片：
    • Western blot analysis of extracts from HeLa cells, using Dyskerin antibody.
    • Immunofluorescence analysis of HeLa cells, using Dyskerin antibody.
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) DKC1 Polyclonal antibody
  • Uniprot No.：
    O60832
  • 基因名：
    DKC1
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Synthesized peptide derived from Internal of Human Dyskerin.
  • 免疫原种属：
    Homo sapiens (Human)
  • 克隆类型：
    Polyclonal
  • 纯化方式：
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IF
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-1:3000
    IF 1:100-1:500
  • 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：
    Catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Required for ribosome biogenesis and telomere maintenance. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.; Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression.
  • 基因功能参考文献：
    1. The expression of DKC1 was upregulated in ccRCC. PMID: 29901172
    2. Dyskerin isoform 3 boosts energy metabolism. PMID: 29132127
    3. dyskerin suppression caused p53-dependent G1 cell-cycle arrest in p53 wild-type cells, and a p53-independent pathway impaired proliferation in cells with p53 dysfunction. PMID: 27197171
    4. observed dyskerin expression, telomerase RNA accumulation, and pseudouridylation present in all DKC1 mutation carriers at levels comparable to healthy wild-type controls PMID: 27570172
    5. A mutation in the DC gene 1 (DKC1) at Xq28 results in dysfunction of dyskerin, a protein that is involved in telomere maintenance and ribosomal biogenesis. PMID: 27018886
    6. Loss of dyskerin binding leads to telomerase RNA component degradation. PMID: 26950371
    7. Expression of GSE4 increased telomerase activity and reduced DNA damage, oxidative stress and cell senescence in dyskerin-mutated cells. PMID: 26571381
    8. influence of dyskerin expression on tumor clinical outcome is linked to its role on the maintenance of high levels of TERC PMID: 26301749
    9. a significant increase in DKC1, RAD50, MRE11 and RPA1 expression in MM cases with high bone marrow infiltration (p
    10. Performed a comprehensive study of human dyskerin through structural, phylogenetic and bioinformatic analysis. PMID: 25540932
    11. DC is genetically heterogeneous. X-linked DC is the commonest form of the disease, accounting for approximately 30% of cases, and is caused by mutations of the DKC1 gene encoding the dyskerin protein. PMID: 25499969
    12. The non-neoplastic biliary tree seems to progressively lose dyskerin expression from the major branches to the peripheral portal bile ducts. Similarly, intrahepatic cholangiocarcinomas showed two patterns of dyskerin expression PMID: 25367684
    13. DKC1 mutations were found in Indian patients with aplastic anemia. PMID: 25906515
    14. dyskerin is a highly dynamic protein throughout the cell cycle and increases the repertoire of fundamental cellular processes that are disrupted by absence of its normal function. PMID: 24303026
    15. DKC1 variant represents the third telomere-related gene identified as a genetic cause of FIP. PMID: 24504062
    16. whole-exome sequencing for the genetic diagnosis of this patient with possible Hoyeraal-Hreidarsson syndrome and successfully identified a missense mutation (c.146C>T, p.Thr49Me) in DKC1. PMID: 24914498
    17. Using human U2OS osteosarcoma cells, the study shows that siRNA-mediated dyskerin depletion induced cellular senescence as evidenced by proliferative arrest, senescence-associated heterochromatinization and a senescence-associated molecular profile. PMID: 24690175
    18. 3 novel alternative splice isoforms of DKC1 derived from human X-linked dyskeratosis congenita 1 have been identified. PMID: 24219293
    19. that females with heterozygous DKC1 mutations may be at increased risk for developing penetrant telomere phenotypes that, at times, may be associated with clinical morbidity. PMID: 23946118
    20. Results show that dyskerin stability is regulated by SUMOylation and that mutations altering dyskerin SUMOylation can lead to defects in telomere maintenance that are characteristics of dyskeratosis congenita. PMID: 23660516
    21. Direct DKC1 gene mutations were not a frequent event in human lung, breast or colon tumourigenesis. PMID: 23348390
    22. We describe an African American family with Hoyeraal-Hreidarrson syndrome (HHS) in which 2 TERT mutations (causing P530L and A880T amino acid changes) and two in the DKC1 variants (G486R and A487A) were segregating. PMID: 23335200
    23. Dyskerin overexpression in human hepatocellular carcinoma is associated with advanced clinical stage and poor patient prognosis. PMID: 22912812
    24. SMUG1 is a DKC1 interaction partner that contributes to rRNA quality control, partly by regulating 5-hydroxymethyluridine levels. PMID: 23246433
    25. Two novel mutations (p.His68Arg and p.Lys390del) have been found in DKC1 genes of Spanish patients with dyskeratosis congenita. PMID: 22664374
    26. purified telomerase holoenzyme complexes from different X-linked dyskeratosis congenita (X-DC) cells have normal catalytic activity; data confirm that dyskerin promotes telomerase RNA (TER) stability in vivo, endorsing the development of TER supplementation strategies for the treatment of X-DC PMID: 22058290
    27. suggests that DKC1 nucleolar and cytoplasmic functions might cumulatively account for the plethora of manifestations displayed by this syndrome PMID: 21820037
    28. rRNA pseudouridylation defects resulted from a deficient pseudouridylate synthetase affect ribosomal ligand binding and translational fidelity from yeast to human cells. PMID: 22099312
    29. A genetic analysis was performed and a new missense mutation S356P, hemizygous, was identified in the DKC1 gene in two dyskeratosis congenita patients. PMID: 21736606
    30. The role of dyskerin in tumorigenesis does not correlate with its function within the telomerase complex. Dyskerin is often overexpressed in oral squamous cell carcinoma, and correlates with active cell proliferation. PMID: 21674675
    31. a recurrent mutation c.1058 C>T (p. A353V) in the DKC1 responsible for dyskeratosis congenita in a Chinese family was identified. PMID: 21601430
    32. intact dyskerin levels, in the absence of coding mutations, are critical for telomerase RNA stability and for in vivo telomere maintenance. PMID: 21415081
    33. Data reinforce the notion that loss and gain of dyskerin function may play important roles in tumorigenesis. PMID: 21480387
    34. Bisulfite sequencing revealed that only FancB and DKC1 showed no methylation in normal patients, yet the presence of promoter hypermethylation in HNSCC patients. PMID: 20332657
    35. Effects of dyskeratosis congenita mutations in dyskerin on assembly of H/ACA pre-RNPs PMID: 20008900
    36. Impairment of dyskerin function causes p53 inactivation due to a defect in p53 mRNA translation. Reduction of dyskerin causes a decrease of p53 mRNA translation and protein levels in human breast cancer cells and mammary epithelial progenitor cells. PMID: 20501855
    37. Analyzed was genomic DNA isolated from peripheral lymphocytes of 17 individuals affected with dyskeratosis congenita. Two novel mutations were discovered. PMID: 19879169
    38. Impaired interaction between NAP57 and SHQ1 is a molecular basis for dyskeratosis congenita. PMID: 19734544
    39. TEP1, hTR, hsp90, p23, and dyskerin remained at high and unchanged levels throughout up- or down regulation of telomerase activity. PMID: 12135483
    40. the human TruB family includes at least three members: DKC1 (previously identified), TRUB1 and TRUB2. PMID: 12736709
    41. Review. DKC1 encodes dyskerin, a protein component of small nucleolar ribonucleoprotein particles. Dyskerin & TERC closely associate with each other in the telomerase complex. DKC1 deficiency causes X-linked dyskeratosis congenita. PMID: 15613268
    42. specific defect in IRES (internal ribosome entry site)-dependent translation in X-linked dyskeratosis congenita cells; defect results in impaired translation of mRNAs containing IRES elements, including those encoding p27Kip1), Bcl-xL and XIAP PMID: 16690864
    43. protein composition of catalytically active telomerase; mass spectrometric sequencing of the components & molecular size determination indicate an enzyme composition of two molecules each of telomerase reverse transcriptase, telomerase RNA & dyskerin PMID: 17395830
    44. THe first case of X-linked DC in Malaysia and a novel mutation in the DKC1 gene are described. PMID: 17417794
    45. mutations in the telomerase complex and their connections with dyskeratosis congenita and bone marrow failures [review] PMID: 17625368
    46. These data indicate that DKC1 is a direct and conserved transcriptional target of c-MYC, and suggest a biologic basis for DKC1 overexpression in neoplasia. PMID: 17822678
    47. These data demonstrate that this domain of dyskerin plays an important role in telomerase maintenance following cell insults such as cisplatin treatment, and in telomerase-defective cells in patients with X-linked dyskeratosis congenita. PMID: 18057229
    48. Significantly higher DKC1 mRNA is associated with colorectal cancer. PMID: 18607840
    49. An intronic splice site mutation in DKC1 was found in an infant with Hoyeraal-Hreidarsson syndrome. PMID: 18627054
    50. a 2 bp inversion in exon 3: NM_001363:c.166_167invCT (Leu56Ser) mutation in DKC1 in dyskeratosis congenita identified in a Russian family PMID: 18802941

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  • 相关疾病：
    Dyskeratosis congenita, X-linked (DKCX); Hoyeraal-Hreidarsson syndrome (HHS)
  • 亚细胞定位：
    [Isoform 1]: Nucleus, nucleolus. Nucleus, Cajal body.; [Isoform 3]: Cytoplasm.
  • 蛋白家族：
    Pseudouridine synthase TruB family
  • 组织特异性：
    Ubiquitously expressed.
  • 数据库链接：

    HGNC: 2890

    OMIM: 300126

    KEGG: hsa:1736

    STRING: 9606.ENSP00000358563

    UniGene: Hs.4747