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  4. ERCC6 Antibody

ERCC6 Antibody

  • 货号：
    CSB-PA008134
  • 规格：
    ￥880
  • 其他：

产品详情

  • Uniprot No.：
    Q03468
  • 基因名：
  • 别名：
    4732403I04 antibody; ARMD 5 antibody; ARMD5 antibody; ATP dependent helicase ERCC6 antibody; ATP-dependent helicase ERCC6 antibody; C130058G22Rik antibody; CKN 2 antibody; CKN2 antibody; Cockayne syndrome B protein antibody; Cockayne syndrome group B protein antibody; Cockayne syndrome protein CSB antibody; COFS antibody; COFS1 antibody; CS group B correcting antibody; CSB antibody; DNA excision repair protein ERCC 6 antibody; DNA excision repair protein ERCC-6 antibody; ERCC 6 antibody; ERCC excision repair 6 chromatin remodeling factor antibody; ERCC6 antibody; ERCC6_HUMAN antibody; Excision repair cross complementing rodent repair deficiency; complementation group 6 antibody; OTTHUMP00000019581 antibody; RAD26 antibody; Rad26 homolog antibody; UVSS1 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Synthesized peptide derived from the N-terminal region of Human CSB.
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 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.
  • 保存缓冲液：
    Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • 产品提供形式：
    Liquid
  • 应用范围：
    IHC, ELISA
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:100-1:300
    ELISA 1:40000
  • 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：
    Essential factor involved in transcription-coupled nucleotide excision repair which allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes. Upon DNA-binding, it locally modifies DNA conformation by wrapping the DNA around itself, thereby modifying the interface between stalled RNA polymerase II and DNA. It is required for transcription-coupled repair complex formation. It recruits the CSA complex (DCX(ERCC8) complex), nucleotide excision repair proteins and EP300 to the sites of RNA polymerase II-blocking lesions. Plays an important role in regulating the choice of the DNA double-strand breaks (DSBs) repair pathway and G2/M checkpoint activation; DNA-dependent ATPase activity is essential for this function. Regulates the DNA repair pathway choice by inhibiting non-homologous end joining (NHEJ), thereby promoting the homologous recombination (HR)-mediated repair of DSBs during the S/G2 phases of the cell cycle. Mediates the activation of the ATM- and CHEK2-dependent DNA damage responses thus preventing premature entry of cells into mitosis following the induction of DNA DSBs. Acts as a chromatin remodeler at DSBs; DNA-dependent ATPase-dependent activity is essential for this function. Remodels chromatin by evicting histones from chromatin flanking DSBs, limiting RIF1 accumulation at DSBs thereby promoting BRCA1-mediated HR. Required for stable recruitment of ELOA and CUL5 to DNA damage sites. Involved in UV-induced translocation of ERCC8 to the nuclear matrix. Essential for neuronal differentiation and neuritogenesis; regulates transcription and chromatin remodeling activities required during neurogenesis.
  • 基因功能参考文献：
    1. Case Reports: Cockayne Syndrome patients with a novel splice site ERCC6 mutation (c.2382+2T>G), and a previously described nonsense ERCC6 mutation (c.3259C>T, p.Arg1087X) in a biallelic state. PMID: 29944916
    2. CSB interacts via its newly identified winged helix domain with RIF1, an effector of 53BP1, and that this interaction mediates CSB recruitment to DSBs in S phase. At double strand breaks, CSB remodels chromatin by evicting histones, which limits RIF1 and its effector MAD2L2 but promotes BRCA1 accumulation. PMID: 29203878
    3. UV-induced dissociation of CSB domain interactions is a necessary step in repairing UV-induced DNA damage and that the WHD (winged helix domain) of CSB plays a key role in this dissociation. PMID: 29957539
    4. CSB recruitment to DSBs is dependent upon an interaction between CSB's newly described winged-helix domain and the NHEJ factor RIF1, but subsequent remodelling activity undertaken by CSB following DSB induction inhibits RIF1 accumulation while promoting BRCA1-mediated HR repair. In vivo remodelling assays are used to demonstrate that CSB evicts histones following generation of DSBs in a manner controlled by ATM and CDK1. PMID: 29203878
    5. CSB regulates double strand break repair choice by recruiting HR factors BRCA1, RPA and Rad51 while suppressing NHEJ factors at damaged chromatin in S/G2 cells. Loss of CSB impairs activation of ATM and downstream targets following induction of double strand breaks, and promotes premature exit from the G2/M checkpoint. PMID: 25820262
    6. ERCC6 rs1917799, ERCC8 rs158572 and rs158916 demonstrated pairwise epistatic interactions to associate with chronic atrophic gastritis and gastric cancer risk. The ERCC6 rs1917799-ERCC8 rs158572 pair significantly influence ERCC6 and ERCC6-ERCC8 expression. PMID: 28562347
    7. Let-7c-5p acted as a tumor suppressor in breast cancer possibly by negatively regulating ERCC6. PMID: 28731186
    8. Loss of Cockayne syndrome group A protein (CSA) or Cockayne syndrome group B protein (CSB) leads to polymerase stalling at non-B DNA in a neuroblastoma cell line, in particular at G-quadruplex structures. PMID: 27791127
    9. The present study reported two novel causative mutations on ERCC6 loci, and the clinical characteristics are described. These results add to clinical and molecular data for elucidating genotype-phenotype correlations in CS PMID: 28440418
    10. Gene analysis showed mutations in exons 4 and 18 of the ERCC6 gene. Multiple ocular abnormalities were observed in a patient with Cockayne syndrome. A detailed ophthalmic evaluation of children with Cockayne syndrome is advised. PMID: 27186691
    11. The role of ERCC6 in regulating response to 5-fluorouracil and drug resistance in colorectal cancer.Elevated expression of ERCC6 is associated with poor colorectal cancer patient survival. PMID: 28665687
    12. NAP1L1 increases CSB processivity by decreasing the pausing probability during translocation. Our study, therefore, uncovers the different steps of CSB-mediated chromatin remodeling that can be regulated by NAP1L1. PMID: 28369616
    13. pro-apoptotic effects observed after CSB ablation PMID: 28253359
    14. the Elongin A ubiquitin ligase and the CSB protein function together in a common pathway in response to Pol II stalling and DNA damage PMID: 28292928
    15. The discovery has been described that G1/G0 cells exhibit Cockayne syndrome B-dependent assembly of homologous recombination factors at double strand break sites within actively transcribed regions. (Review) PMID: 27233112
    16. No significant association exists between ERCC6 polymorphisms and bladder cancer risk. PMID: 27791261
    17. CSB plays a role in the homeostasis and function of human neurons. CSB-deficient neural networks displayed altered electrophysiological activity, including decreased synchrony, and reduced synapse density. PMID: 26755826
    18. Study found that ERCC6 transcription may be epigenetically regulated in lens epithelial cells of age-related nuclear cataract leading to its repression. PMID: 27231489
    19. Mutation of Cockayne syndrome B (CSB) affects neuronal gene expression and differentiation, so we attempted to bypass its function by expressing downstream target genes. PMID: 26972010
    20. new role of VCP/p97 segregase in the timely processing of ubiquitinated CSB from damaged chromatin. PMID: 26826127
    21. CSB and CTCF can regulate each other's chromatin association, thereby modulating chromatin structure and coordinating gene expression in response to oxidative stress. PMID: 26578602
    22. Transcription inhibition reduced accumulation of CSB at sites of monoadducts and interstrand crosslinks, but it did not affect recruitment to (although slightly affected retention at) oxidative DNA damage. PMID: 26616585
    23. Data suggest that both the most C-terminal region and SUMOylation of a lysine residue in N-terminal region are important for functions of CSB/ERCC6 in transcription-coupled nucleotide excision repair following DNA breakage from UV light. PMID: 26620705
    24. ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination. This report expands the disease spectrum associated with ERCC6 mutations. PMID: 25251875
    25. 33 proteins that were not previously known to interact with CSB. PMID: 26030138
    26. Data indicate that Cockayne syndrome group B protein CSB function is necessary for the recruitment of recombinational factors. PMID: 26100862
    27. These studies have provided significant functional and mechanistic insights of Rad26p/CSB in regulation of gene expression and genome integrity as described here. PMID: 25484185
    28. The present report describes a case of Cockayne syndrome in a Chinese family, with the patients carrying two missense mutations (c.1595A>G, p.Asp532Gly and c.1607T>G, p.Leu536Trp) in the ERCC6 gene in an apparently compound heterozygote. PMID: 25463447
    29. new splicing ERCC6 defect causal of Cockayne syndrome. PMID: 25376329
    30. Data indicate that Cockayne syndrome group B protein CSB is required for transdifferentiation of fibroblasts to neurons. PMID: 25249633
    31. CSB-mutated cells, but not UVSSA-deficient cells, have increased levels of intramitochondrial reactive oxygen species (ROS), especially when mitochondrial complex I is inhibited by rotenone. PMID: 25136123
    32. CSB has a crucial role in coordinated regulation of transcription and chromatin remodeling activities that are required during neurogenesis. PMID: 24874740
    33. An interaction effect of pri-let-7a-1 rs10739971 polymorphism with ERCC6 rs1917799 polymorphism was observed for the risk of gastric cancer. PMID: 24586594
    34. Decreased CSB occupancy of TPA-response elements when c-Jun levels were diminished. PMID: 24743307
    35. CSB protein stimulates NEIL2 DNA glycosylase activity PMID: 24406253
    36. ERCC6 rs1917799 polymorphism is associated with gastric cancer risk. PMID: 24289633
    37. Double heterozygote for mutations of ERCC6 is associated with Cockayne syndrome. PMID: 24928003
    38. Mitochondrial CSA and CSB: protein interactions and protection from ageing associated DNA mutations. PMID: 23562423
    39. The role of CSA and CSB protein in the oxidative stress response. PMID: 23562424
    40. CSB has been shown to regulate processes such as the transcriptional recovery after DNA damage, the p53 transcriptional response, the response to hypoxia, the response IGF-1, transactivation of nuclear receptors, transcription of housekeeping genes PMID: 23562425
    41. Structure, function and regulation of CSB PMID: 23422418
    42. The review focuses on the participation of the CSB and CSA proteins in many different protein interactions and complexes, and how these interactions inform us about pathways that are defective in the disease. PMID: 23583689
    43. CSB and PCAF play cooperative roles to establish the active state of rRNA genes by histone acetylation PMID: 23667505
    44. In CSB-deficient cells ATF3 remains bound to the promoter, thereby preventing the arrival of polymerase II and the restart of transcription. PMID: 23733932
    45. In tumor cell lines, CSB is overexpressed and controls cell proliferation and apoptosis. PMID: 23419237
    46. CSB modulates the CPT-induced formation of discrete p53-binding protein 1 (53BP1) nuclear foci at sites of transcription-mediated DNA strand breaks PMID: 23229313
    47. Eighteen polymorphisms in four DNA repair genes were genotyped in 789 age related cataract patients and 531 normal controls from the Jiangsu Eye Study. PMID: 23322570
    48. Involvement of CSB and XPC in the repair of oxidative DNA lesions independent of the remainder of the nucleotide excision repair reaction. PMID: 23253478
    49. Patient-derived CSB-deficient cells exhibited a defect in efficient mitochondrial transcript production and that CSB specifically promoted elongation by the mitochondrial RNA polymerase in vitro. PMID: 22743267
    50. CSB-PGBD3 fusion protein is important in both health and disease, and could play a role in Cockayne syndrome. PMID: 22483866

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  • 相关疾病：
    Cockayne syndrome B (CSB); Cerebro-oculo-facio-skeletal syndrome 1 (COFS1); De Sanctis-Cacchione syndrome (DSC); Macular degeneration, age-related, 5 (ARMD5); UV-sensitive syndrome 1 (UVSS1)
  • 亚细胞定位：
    Nucleus.
  • 蛋白家族：
    SNF2/RAD54 helicase family
  • 数据库链接：

    HGNC: 3438

    OMIM: 133540

    KEGG: hsa:2074

    STRING: 9606.ENSP00000348089

    UniGene: Hs.49063