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  4. Recombinant Human V (D)J recombination-activating protein 1, partial

Recombinant Human V (D)J recombination-activating protein 1, partial

  • 中文名稱：
    人RAG1重組蛋白
  • 貨號(hào)：
    CSB-YP322816HU
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人RAG1重組蛋白
  • 貨號(hào)：
    CSB-EP322816HU
  • 規(guī)格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人RAG1重組蛋白
  • 貨號(hào)：
    CSB-EP322816HU-B
  • 規(guī)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：
    人RAG1重組蛋白
  • 貨號(hào)：
    CSB-BP322816HU
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人RAG1重組蛋白
  • 貨號(hào)：
    CSB-MP322816HU
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 別名：
    E3 ubiquitin-protein ligase RAG1; RAG-1; RAG1; RAG1_HUMAN; recombination activating gene 1; recombination activating protein 1; RING finger protein 74; RNF74; V(D)J recombination-activating protein 1
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Partial
  • 蛋白標(biāo)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(chǎn)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(fù)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(chǔ)存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質(zhì)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(xiàng)：
    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(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 功能：
    Catalytic component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T-lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J (joining) gene segments. In the RAG complex, RAG1 mediates the DNA-binding to the conserved recombination signal sequences (RSS) and catalyzes the DNA cleavage activities by introducing a double-strand break between the RSS and the adjacent coding segment. RAG2 is not a catalytic component but is required for all known catalytic activities. DNA cleavage occurs in 2 steps: a first nick is introduced in the top strand immediately upstream of the heptamer, generating a 3'-hydroxyl group that can attack the phosphodiester bond on the opposite strand in a direct transesterification reaction, thereby creating 4 DNA ends: 2 hairpin coding ends and 2 blunt, 5'-phosphorylated ends. The chromatin structure plays an essential role in the V(D)J recombination reactions and the presence of histone H3 trimethylated at 'Lys-4' (H3K4me3) stimulates both the nicking and haipinning steps. The RAG complex also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. The introduction of DNA breaks by the RAG complex on one immunoglobulin allele induces ATM-dependent repositioning of the other allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. In addition to its endonuclease activity, RAG1 also acts as an E3 ubiquitin-protein ligase that mediates monoubiquitination of histone H3. Histone H3 monoubiquitination is required for the joining step of V(D)J recombination. Mediates polyubiquitination of KPNA1.
  • 基因功能參考文獻(xiàn)：
    1. Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium. PMID: 27609655
    2. the ability of the RAG nuclease to minimize the risks of genome disruption by coupling the breakage and repair steps of the V(D)J reaction. This implies that the RAG genes, derived from an ancient transposon, have undergone strong selective pressure to prohibit transposition in favor of promoting controlled DNA end joining in cis by the ubiquitous DNA damage response and DNA repair machineries. PMID: 27863852
    3. Leaky SCID can be caused by hypomorphic mutations in RAG1 and RAG2 that result in only partial loss of enzymatic function of the proteins respectively encoded by these genes. PMID: 28552805
    4. We report two siblings with SCID and an atypical phenotype of osteopetrosis (OP). A biallelic microdeletion encompassing the 5' region of TRAF6, RAG1 and RAG2 genes was identified. TRAF6, a tumor necrosis factor receptor-associated family member, plays an important role in T cell signaling and in RANKL-dependent osteoclast differentiation and activation but its role in human OP has not been previously reported PMID: 27808398
    5. The show that DNA damage caused by RAG1 activity in pre-B cells was able to downmodulate RAG1 expression and activity, confirming the existence of a negative feedback regulatory mechanism. PMID: 27559048
    6. Our findings suggest that mutations in RAG1, specifically the p.R474C variant, can be associated with relatively mild clinical symptoms or delayed occurrence of T cell and B cell deficiencies but may predispose to progressive multifocal leukoencephalopathy. PMID: 28216420
    7. This study compares T-cell development of patients with RAG1-dependent immune deficiencies, and elucidates important differences that help to explain the wide range of immunologic phenotypes that result from different mutations within the same gene of various patients. PMID: 27301863
    8. Agammaglobulinemia associated to nasal polyposis due to a hypomorphic RAG1 mutation PMID: 27713031
    9. Our results raise the prospect that RAG is a valuable biomarker in lymphoblastic leukaemia disease surveillance. PMID: 27198500
    10. mutation c.256_257delAA in RAG1 gene seems to occur quite frequently in the Polish patients with severe combined immunodeficiency and may result in classical OS as well as in severe combined immunodeficiency without clinical and laboratory features of OS when occurred in homozygous state PMID: 28083621
    11. most common mutation in East Slavs children with Omenn syndrome; associated with more favorable prognosis after hematopoietic stem cells transplantation PMID: 26596586
    12. molecular and cellular mechanisms that account for the expanding range of clinical and immunological phenotypes of human RAG deficiency (review) PMID: 26996199
    13. study reported 4 patients with RAG1 deficiency: classic severe combined immune deficiency (SCID) was seen in 2 patients, Omenn syndrome was observed in 1 patient and atypical SCID was seen in one patient PMID: 26689875
    14. Study reports that RAG1 associates with chromatin at thousands of active promoters and enhancers in the genome of developing lymphocytes. The mouse and human genomes appear to have responded by reducing the abundance of "cryptic" recombination signals near RAG1 binding sites. PMID: 26234156
    15. These findings provide insight into the role of this poorly understood region of Rag1 and support the role of Rag1 in a post-cleavage stage of recombination PMID: 25849362
    16. Expression of recombinase RAG-1 in diabetic patients was detected primarily in alphabetaTCR+CD40+ lymphocytes. PMID: 22803080
    17. Bidirectional activity of the NWC promoter is responsible for RAG-2 transcription in non-lymphoid cells [NWC] PMID: 22984564
    18. This study reports on the prevalence of RAG1 and RAG2 mutations in ten severe combined immunodeficiency disorder patients in Egypt. PMID: 25869295
    19. compiled 751 genetic variants in human RAG1 gene using 1092 human genomes PMID: 25976673
    20. analysis of regions of RAG1 necessary for interaction with RAG2 and measurement of the RAG1-RAG2 binding affinity PMID: 25745109
    21. analysis of individual molecular events of RAG-mediated V(D)J DNA cleavage PMID: 25831509
    22. Investigate the factors that regulate RAG1 and RAG2 cleavage on non-B DNA structures. We find that RAG binding and cleavage on heteroduplex DNA is dependent on the length of the double-stranded flanking region. PMID: 25327637
    23. A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency PMID: 24996264
    24. Observations indicate that the RAG proteins exert fine control over every step of V(D)J cleavage. PMID: 24797073
    25. PTEN microdeletions in T-cell acute lymphoblastic leukemia are caused by illegitimate RAG-mediated recombination events. PMID: 24904117
    26. direct Ddelta2-Jdelta1 rearrangements are prohibited by a B12/23 restriction and ordered TCR-delta gene assembly requires RUNX1 protein, which binds to the Ddelta2-23RSS, interacts with RAG1, and enhances RAG1 deposition at this site PMID: 25135298
    27. The results indicate that the contribution of immune dysregulatory disease due to RAG1 mutations present in the general population may be much higher than previously estimated. PMID: 24472623
    28. we demonstrate correlation between recombination activity of RAG1 mutants and the severity of clinical presentation and show that RAG1 mutants can induce specific abnormalities of the VDJ recombination process. PMID: 24290284
    29. Whole exome sequencing reveals homozygous RAG1 mutations that expand the spectrum of combined immunodeficiency with autoimmunity and granuloma occurring with RAG1 deficiency. PMID: 24122031
    30. Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes. PMID: 24418478
    31. This is the first description of the co-existence of large amounts of clonal expanded autologous and transplacental-acquired maternal T cells in RAG1-deficient SCID. PMID: 24666246
    32. The cases presented here demonstrate that The clinical spectrum of RAG deficiency must expand to encompass early-onset autoimmunity with preserved B lymphocytes. PMID: 23891352
    33. Case Report: a girl who developed severe BCGitis and vaccine-derived poliovirus infection was discovered to have a novel deletion of RAG1. PMID: 23755767
    34. genetic association studies in population in China: Data suggest that SNPs in RAG1 (rs2227973, A>G, K820R) and LIG4 (DNA ligase IV, rs1805388, exon 2 54C>T, Thr9Ile) are associated with male infertility. PMID: 23630330
    35. Mutations to the sequence of the nonamer and deletion of the nonamer-binding domain of RAG1 reinforced the role of the nonamer in the enhancement in RAG cleavage. PMID: 22891626
    36. A dual interaction between the DNA damage response protein MDC1 and the RAG1 subunit of the V(D)J recombinase. PMID: 22942284
    37. Homozygous mutation of p.R394Q/p.R394Q and p.R776Q, 3047-3049 del GCC mutations are novel and they are causing serious T-B-NK + SCID. PMID: 22424479
    38. We report for the first time 3 children with Omenn syndrome in the Chinese population and identify 3 novel mutations in the RAG1 gene. PMID: 21771083
    39. In the RAG1 gene we detected two novel mutations: L454Q and 469 fs-4bpdel. In the RAG 2 gene: 3 novel mutations: D65Y, G157V, and E480X. One T-B- SCID patient had a compound heterozygote for new mutations in the adenosine deaminase gene: W264X and R235W. PMID: 21624848
    40. IL7R and RAG1/2 genes mutations/polymorphisms in patients with SCID. PMID: 21625022
    41. The results indicate that in cancer cells E2A, FOXO1 and FOXP1 regulate RAG1 and RAG2 expression, which initiates Ig gene rearrangement much in the way similar to B lymphocytes. PMID: 21655267
    42. RAG mutations are associated with Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease. PMID: 21502542
    43. study demonstrates that exogenous TCR alpha and beta chains transferred into the human immature RAG(+) T cell line Sup-T1 by lentiviral transduction inhibit RAG expression through tonic signaling PMID: 21481940
    44. study reports 5 cases of RAG deficiency; genetic defects were heterogeneous and included 6 novel RAG mutations; all missense mutations except for Met443Ile in RAG2 were located in active core regions of RAG1 or RAG2 PMID: 21131235
    45. These disparate and atypical presentations of hypomorphic RAG1 mutations highlight the role of RAG1 in immune function and autoimmunity and expand the disease spectrum linked to these genes. PMID: 20956421
    46. In a subset of acute lymphoblastic leukemia RAG might create one of the initiating double-strand breaks. PMID: 20703256
    47. Hypomorphic Rag mutations can cause destructive midline granulomatous disease. PMID: 20489056
    48. RAG1-mediated histone monoubiquitylation activity plays a role in regulating the joining phase of chromosomal V(D)J recombination. PMID: 20122409
    49. RAG expression is up-regulated in peripheral IgD+ and VpreB+ B cells of patients with active SLE. PMID: 12115231
    50. Multiple PCR-SSCP analysisof RAG-1 showed shifted bands in 5 cases: Philadelphia-positive ALL, MLL, FL, and AML. An A-to-G SNP at 2571 was found. PMID: 12145704

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  • 相關(guān)疾?。?/div>
    Combined cellular and humoral immune defects with granulomas (CHIDG); Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID); Omenn syndrome (OS); Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity (T-CMVA)
  • 亞細(xì)胞定位：
    Nucleus.
  • 蛋白家族：
    RAG1 family
  • 組織特異性：
    Maturing lymphoid cells.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 9831

    OMIM: 179615

    KEGG: hsa:5896

    STRING: 9606.ENSP00000299440

    UniGene: Hs.538979