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  4. Recombinant Human Protein artemis (DCLRE1C), partial

Recombinant Human Protein artemis (DCLRE1C), partial

  • 中文名称：
    Recombinant Human Protein artemis(DCLRE1C),partial,Yeast
  • 货号：
    CSB-YP857026HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    Recombinant Human Protein artemis(DCLRE1C),partial,Yeast
  • 货号：
    CSB-EP857026HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    Recombinant Human Protein artemis(DCLRE1C),partial,Yeast
  • 货号：
    CSB-EP857026HU-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：
    Recombinant Human Protein artemis(DCLRE1C),partial,Yeast
  • 货号：
    CSB-BP857026HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    Recombinant Human Protein artemis(DCLRE1C),partial,Yeast
  • 货号：
    CSB-MP857026HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    DCLRE1C
  • Uniprot No.：
  • 别名：
    A SCID; A SCID protein; Artemis protein; ASCID; DCLRE1C; DCLRE1C DNA cross link repair 1C ; DCLRE1C protein; DCLREC1C; DCR1C_HUMAN; DNA cross link repair 1C ; DNA cross link repair 1C protein; DNA cross-link repair 1C protein; FLJ11360; FLJ36438; hSNM1C; OTTHUMP00000045150; Protein A-SCID; Protein ARTEMIS; PSO2 homolog; RS SCID ; SCIDA; Severe combined immunodeficiency type a; SNM1 homolog C; SNM1 like protein; SNM1-like protein; SNM1C
  • 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：
    Nuclease involved in DNA non-homologous end joining (NHEJ); required for double-strand break repair and V(D)J recombination. Required for V(D)J recombination, the process by which exons encoding the antigen-binding domains of immunoglobulins and T-cell receptor proteins are assembled from individual V, (D), and J gene segments. V(D)J recombination is initiated by the lymphoid specific RAG endonuclease complex, which generates site specific DNA double strand breaks (DSBs). These DSBs present two types of DNA end structures: hairpin sealed coding ends and phosphorylated blunt signal ends. These ends are independently repaired by the non homologous end joining (NHEJ) pathway to form coding and signal joints respectively. This protein exhibits single-strand specific 5'-3' exonuclease activity in isolation and acquires endonucleolytic activity on 5' and 3' hairpins and overhangs when in a complex with PRKDC. The latter activity is required specifically for the resolution of closed hairpins prior to the formation of the coding joint. Also required for the repair of complex DSBs induced by ionizing radiation, which require substantial end-processing prior to religation by NHEJ.
  • 基因功能参考文献：
    1. Data suggest that stimulation of Artemis nuclease/DCLRE1C activity by XRCC4-DNA ligase IV hetero-complex and efficiency of blunt-end ligation are determined by structural configurations at the DNA ends. (XRCC4 = X-ray repair cross complementing 4) PMID: 28696258
    2. An N-terminal fragment comprising the catalytic domain can interact both with itself and with a C-terminal fragment. Amino acid exchanges N456A+S457A+E458Q in the C terminus of full-length SCIDA resulted in unmasking of the N terminus and in increased SCIDA activity in cellular V(D)J recombination assays. PMID: 28082683
    3. Data demonstrate that DCLRE1C mutations can cause a phenotype presenting as only antibody deficiency. PMID: 26476407
    4. DCLRE1C and NCF1 mutations have been found by whole-genome sequencing to cause primary immunodeficiency in unrelated patients. PMID: 25981738
    5. the nature and location of mutations correlate with the clinical phenotype of severe combined immunodeficiency PMID: 25917813
    6. uncovered a nuclease, Artemis, as a PTIP-binding protein PMID: 25512557
    7. the 5'-exonuclease is intrinsic to ARTEMIS, making it relevant to the role of ARTEMIS in nonhomologous DNA end joining PMID: 24500713
    8. DNA ligase IV and Artemis act cooperatively to promote nonhomologous end-joining PMID: 23967291
    9. 2 siblings are described with combined immunodeficiency (CID) and immunodysregulation caused by compound heterozygous Artemis mutations. PMID: 24230999
    10. Artemis levels significantly influence radiation toxicity in human cells PMID: 22713703
    11. Our findings indicate a novel function of Artemis as a molecular switch that converts stalled replication forks harboring single-stranded gap DNA lesions into double-strand breaks, thereby activating the ATM signaling pathway PMID: 23465063
    12. Structural basis of DNA ligase IV-Artemis interaction in nonhomologous end-joining. PMID: 23219551
    13. these results suggest that Artemis functions as a positive regulator of AMPK signaling by stabilizing the LKB1-AMPK complex. PMID: 23044421
    14. study identified a new SCID mutation in a consanguineous Israeli Arab family; sequencing identified an 8 bp insertion in exon 14 (1306ins8) of DCLRE1C in all affected patients; this causes an alteration in amino acid 330 of the protein from cysteine to a stop codon (p.C330X) PMID: 22527898
    15. Results show that during S-phase Artemis but not ATM is dispensable for homologous recombination of radiation-induced double-strand breaks. PMID: 22730303
    16. Regulation of p27 by Artemis and DDB2 is important for cell cycle progression in normally proliferating cells. PMID: 22134138
    17. Point mutations in Artemis that disrupt its interaction with Ligase IV or DNA-PKcs reduce V(D)J recombination. PMID: 22529269
    18. The dominant negative mutant Artemis fragment (D37N-413aa) enhanced tumor cell radiosensitivity through blocking activity of endogenous Artemis and DNA repair. PMID: 21641068
    19. antisense oligonucleotide (AON) covering the intronic mutation restored WT Artemis transcript levels and non-homologous end-joining pathway activity in the patient fibroblasts PMID: 21390052
    20. analysis of differences in sensitivity to DNA-damaging Agents between XRCC4- and Artemis-deficient human cells PMID: 21785230
    21. Artemis is required for the repair of DNA double strand breaks that arise endogenously or following oxidative stress. PMID: 21596788
    22. Restoration of chemo/radioresistance by wild-type, but not D165N Artemis suggests that the lack of endonucleolytic trimming of DNA ends is the principal cause of sensitivity to double-strand cleaving agents in Artemis-deficient cells. PMID: 21531702
    23. Studies indicate that codon-based models of gene evolution yielded statistical support for the recurrent positive selection of five NHEJ genes during primate evolution: XRCC4, NBS1, Artemis, POLlambda, and CtIP. PMID: 20975951
    24. Functional analyses on patients' fibroblasts demonstrated that the corresponding alleles carry null mutations of the DCLRE1C gene. PMID: 19953608
    25. Plays role in the 3'-processing reaction and protection of the ends of viral DNA (HIV-1) after reverse transcription. Involved in multiple steps including integration and pre-integration steps during retroviral replication. PMID: 20003485
    26. DNA-PKcs regulates Artemis by both phosphorylation and complex formation to permit enzymatic activities that are critical for the hairpin-opening step of V(D)J recombination and for the 5' and 3' overhang processing in nonhomologous DNA end joining. PMID: 11955432
    27. A nonsense founder mutation discovered in exon 8 of Artemis results in the truncation of the deduced protein product and indicates that the SNM1-like gene (Artemis) is the gene responsible for SCID in Athabascan-speaking Native Americans. PMID: 12055248
    28. deletions and missense mutations in the Artemis gene can cause radiosensitive-SCID with defective coding joint formation and lead to an early and complete B-cell differentiation block PMID: 12406895
    29. Artemis has a role in T and B lymphocyte immunodeficiency and in predisposition to lymphoma through the NHEJ pathway of DNA repair PMID: 12569164
    30. the genomic exon 3 deletion is unique to Japan and may be considered as a founder haplotype. PMID: 12592555
    31. Properties of the Artemis proteins are integrated into the processes of V(D)J recombination and non-homologous end-joining factors. PMID: 14628082
    32. Artemis uses one or two Zn(II) ions to exert its catalytic activity, like bacterial class B beta-Lact enzymes hydrolyzing beta-lactam compounds. PMID: 14744996
    33. The hairpin-opening activity of ARTEMIS and/or its overhang endonucleolytic activity are necessary but its exonuclease activity is not sufficient for the process of V(D)J recombination. PMID: 15071507
    34. Data show that Artemis interacts with cell cycle checkpoint proteins and is a phosphorylation target of the checkpoint kinases ATM or ATR after exposure of cells to IR or UV irradiation, respectively. PMID: 15456891
    35. Atemis is an effector of dna repair that can be phosphorylated by ataxia-telangiectasia-mutated kinase (ATM) and possibly by DNA-dependent protein kinase catalytic subunit and ATM-and Rad3-related kinase depending on the type of DNA damage. PMID: 15468306
    36. ATM, Artemis, and proteins locating to gamma-H2AX foci have roles in double-strand break rejoining PMID: 15574327
    37. our finding places Artemis at the signaling crossroads downstream of DNA-PKcs and ATM in IR-induced DSB repair. PMID: 15723659
    38. report on a first patient with clinical and immunologic features of OS caused by hypomorphic ARTEMIS mutations. Sequencing of the ARTEMIS gene revealed a compound heterozygosity in this nonhomologous end-joining (NHEJ) factor PMID: 15731174
    39. Artemis:DNA-PKcs nuclease may be important in removing secondary structures that hinder processing of DNA ends during nonhomologous DNA end joining . PMID: 15936993
    40. The uncharacterized C-terminal domain of Artemis has important regulatory roles; results lead to a model for how DNA-PKcs activates Artemis by phosphorylation PMID: 16093244
    41. characterization of six DNA-PK phosphorylation sites on Artemis whose phosphorylation shows dependence on its association with DNA-PK catalytic subunit and is induced by double-stranded DNA damage PMID: 16600297
    42. Ku-mediated assembly of DNA-PK on DNA ends is responsible for a dissociation of the DNA-PKcs.Artemis complex. PMID: 16857680
    43. DNA-PK autophosphorylation regulates Artemis access to DNA ends, providing insight into the mechanism of Artemis mediated DNA end processing. PMID: 16874298
    44. Artemis efficiently trims long 3'-phosphoglycate-terminated overhangs induced in DNA by radiation and other radical-based toxins. PMID: 17121861
    45. analyzed the phenotype of cells derived from SCID patients with different mutations in the Artemis gene PMID: 17169382
    46. ATM regulates G(2)/M checkpoint recovery through inhibitory phosphorylations of Artemis that occur soon after DNA damage, thus setting a molecular switch that, hours later upon completion of DNA repair, allows activation of the Cdk1-cyclin B complex. PMID: 17242184
    47. There is some sequence-dependent variation in the efficiency and position of hairpin opening by Artemis:DNA-PKcs; providing more clarity on the extent to which the hairpin opening position contributes to junctional diversity in V(D)J recombination. PMID: 17932067
    48. The Artemis C terminus is essential for V(D)J recombination at the normal Artemis expression level. PMID: 18034425
    49. H254 plays a key role in the Artemis function, as it is critical for its full activity in vitro. PMID: 19022407
    50. Results link Artemis to the predominant nonhomologous end-joining pathway during immunoglobulin class switch recombination. PMID: 19075292

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  • 相关疾病：
    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation (RSSCID); Severe combined immunodeficiency Athabaskan type (SCIDA); Omenn syndrome (OS)
  • 亚细胞定位：
    Nucleus.
  • 蛋白家族：
    DNA repair metallo-beta-lactamase (DRMBL) family
  • 组织特异性：
    Ubiquitously expressed, with highest levels in the kidney, lung, pancreas and placenta (at the mRNA level). Expression is not increased in thymus or bone marrow, sites of V(D)J recombination.
  • 数据库链接：

    HGNC: 17642

    OMIM: 602450

    KEGG: hsa:64421

    STRING: 9606.ENSP00000367527

    UniGene: Hs.655932