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Recombinant Human TFIIH basal transcription factor complex helicase XPD subunit (ERCC2)

  • 货号:
    CSB-YP007770HU
  • 规格:
  • 来源:
    Yeast
  • 其他:
  • 货号:
    CSB-EP007770HU
  • 规格:
  • 来源:
    E.coli
  • 其他:
  • 货号:
    CSB-EP007770HU-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:
  • 货号:
    CSB-BP007770HU
  • 规格:
  • 来源:
    Baculovirus
  • 其他:
  • 货号:
    CSB-MP007770HU
  • 规格:
  • 来源:
    Mammalian cell
  • 其他:

产品详情

  • 纯度:
    >85% (SDS-PAGE)
  • 基因名:
  • Uniprot No.:
  • 别名:
    TFIIH 80 kDa subunit; Basic transcription factor 2 80 kDa subunit; BTF2 p80; COFS 2; COFS2; CXPD; DNA excision repair protein ERCC 2; DNA excision repair protein ERCC-2; DNA repair protein complementing XP D cells; DNA repair protein complementing XP-D cells; EM9; ERCC 2; ERCC2; ERCC2_HUMAN; Excision repair 2; Excision repair cross complementing rodent repair deficiency complementation; Excision repair cross complementing rodent repair deficiency; complementation group 2; MAG; MGC102762; MGC126218; MGC126219; OTTHUMP00000045860; OTTHUMP00000045861; OTTHUMP00000045862; OTTHUMP00000045863; TFIIH 80 kDa subunit; TFIIH basal transcription factor complex 80 kDa subunit; TFIIH Basal Transcription Factor Complex Helicase Subunit; TFIIH basal transcription factor complex helicase XPD subunit; TFIIH basal transcription factor complex p80 subunit; TFIIH p80; TTD; Xeroderma pigmentosum complementary group D; Xeroderma pigmentosum group D complementing protein; Xeroderma pigmentosum group D-complementing protein; XPD; XPDC
  • 种属:
    Homo sapiens (Human)
  • 蛋白长度:
    Full length protein
  • 表达区域:
    1-760
  • 氨基酸序列
    MKLNVDGLLV YFPYDYIYPE QFSYMRELKR TLDAKGHGVL EMPSGTGKTV SLLALIMAYQ RAYPLEVTKL IYCSRTVPEI EKVIEELRKL LNFYEKQEGE KLPFLGLALS SRKNLCIHPE VTPLRFGKDV DGKCHSLTAS YVRAQYQHDT SLPHCRFYEE FDAHGREVPL PAGIYNLDDL KALGRRQGWC PYFLARYSIL HANVVVYSYH YLLDPKIADL VSKELARKAV VVFDEAHNID NVCIDSMSVN LTRRTLDRCQ GNLETLQKTV LRIKETDEQR LRDEYRRLVE GLREASAARE TDAHLANPVL PDEVLQEAVP GSIRTAEHFL GFLRRLLEYV KWRLRVQHVV QESPPAFLSG LAQRVCIQRK PLRFCAERLR SLLHTLEITD LADFSPLTLL ANFATLVSTY AKGFTIIIEP FDDRTPTIAN PILHFSCMDA SLAIKPVFER FQSVIITSGT LSPLDIYPKI LDFHPVTMAT FTMTLARVCL CPMIIGRGND QVAISSKFET REDIAVIRNY GNLLLEMSAV VPDGIVAFFT SYQYMESTVA SWYEQGILEN IQRNKLLFIE TQDGAETSVA LEKYQEACEN GRGAILLSVA RGKVSEGIDF VHHYGRAVIM FGVPYVYTQS RILKARLEYL RDQFQIREND FLTFDAMRHA AQCVGRAIRG KTDYGLMVFA DKRFARGDKR GKLPRWIQEH LTDANLNLTV DEGVQVAKYF LRQMAQPFHR EDQLGLSLLS LEQLESEETL KRIEQIAQQL
  • 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:
    ATP-dependent 5'-3' DNA helicase, component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. The ATP-dependent helicase activity of XPD/ERCC2 is required for DNA opening. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. XPD/ERCC2 acts by forming a bridge between CAK and the core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation. Might have a role in aging process and could play a causative role in the generation of skin cancers.
  • 基因功能参考文献:
    1. Polymorphic variants of XRCC1 Arg399Gln and XPD Lys751Gln are not associated with the risk of gastric cancer in the Kashmiri population. PMID: 30225185
    2. A significant association was discovered between the rs1799793 A allele and increased Diffuse Large B-Cell Lymphoma risk (P=0.031, OR=1.928, 95% CI=1.052-3.534). The C allele of rs13181 was obviously associated with elevated Diffuse Large B-Cell Lymphoma susceptibility (P=0.047, OR=1.820, 95% CI=1.002-3.305). PMID: 30279407
    3. Results identified a significant relationship between SNP rs13181 of ERCC2 and an increased risk of endometrial cancer development. PMID: 30194171
    4. ERCC2 polymorphism is associated with breast cancer susceptibility. PMID: 29544444
    5. These results provide new evidence to reveal the role of XPD in Cutaneous squamous cell carcinoma A431 cells. PMID: 29362353
    6. studied SNPs in XRCC1 and XPD have no association with the incidence of age related cataract in the analyzed group of subjects. PMID: 28560653
    7. results indicate that the ERCC2 Lys751Gln polymorphism might be important in stimulating the development of pancreatic cancer, especially for Asians. PMID: 28223548
    8. our results suggested that ERCC2 Asp312Asn polymorphism is associated with increased cancer risk. A significantly increased cancer risk was observed in Asian populations, but not in Caucasian populations. PMID: 28489582
    9. hospital workers as a category are at risk for genotoxic damage caused by chronic exposure to xenobiotics. The higher levels of cytogenetic damage observed among GSTT1 null, XPD 751 and XPC 939 CC homozygote subjects confirm the importance of the genetic polymorphisms analysis associated to genotoxicological studies. PMID: 28434254
    10. XPD Lys/Lys might play a facilitating role in the development of OCD. PMID: 29264886
    11. XPG rs2296147T>C polymorphism is associated with response to therapy in cancer. PMID: 27588464
    12. We found that the T allele of ERCC2-rs1799793 and the A allele of ERCC3-rs4150441, interaction between rs1799793 and rs4150441, and haplotype containing the rs1799793T and rs11615-T alleles were all associated with increased osteosarcoma risk PMID: 28474168
    13. meta-analysis indicates that XRCC2 rs3218536 and ERCC2 rs13181 polymorphisms may not be associated with the risk of ovarian cancer PMID: 27863412
    14. Results show that the response to treatment depended of the variability in genes engaged in drugs' transport ABCC2 c.-24C>T and ABCB1 p.Ser893Ala/Thr and in DNA repair machinery ERCC2 p.Lys751Gln. PMID: 27527855
    15. Results indicate that ERCC excision repair 2 (ERCC2) is a potential target of miR-770-5p. PMID: 27449101
    16. The allele combination of CGC from hOGG1, ITGA2 and XPD polymorphisms was significantly associated with increased odds of nasopharyngeal carcinoma. PMID: 29121049
    17. CHD1 facilitates substrate handover from XPC to the downstream TFIIH (transcription factor IIH). PMID: 29018037
    18. our study provided preliminary evidence that the ERCC2 rs50872 T allele was associated with a favorable survival while the XRCC1 rs25487 A allele was associated with a worse survival outcome for advanced NSCLC patients. PMID: 27465648
    19. Genetic polymorphism in ERCC2 gene is associated with response to chemotherapy in osteosarcoma. PMID: 28388903
    20. XPD 312 single nucleotide polymorphism is associated with Non-Small-Cell Lung Cancer. PMID: 27908619
    21. At 24 months of follow-up, patients with xeroderma pigmentosum group D protein (XPD) c.934AA genotype presented lower progression-free survival and overall survival in Kaplan-Meier estimates. PMID: 26918827
    22. the association of six non-synonymous coding variants from XRCC1, XRCC3 and XPD genes with hepatocellular carcinoma risk, was assessed. PMID: 27306318
    23. characterized by a broad spectrum of base changes. In addition, we note an association between the activity of this signature and smoking that is independent of ERCC2 mutation status, providing genomic evidence of tobacco-related mutagenesis in urothelial cancer PMID: 27111033
    24. Hypermethylation within the promoter region of the ERCC2 gene is associated with gastric cancer. PMID: 27607585
    25. significant interactions between ERCC2 (Lys751Gln) and ERCC3 (7122 A>G) genotypes polymorphism and cadmium exposure in association with nasal polyposis disease PMID: 27838878
    26. ERCC2 mutation is associated with sarcoma. PMID: 27498913
    27. The carriage of homozygous minor allele of DNA repair gene XPD Gln751Gln is a risk factor for thyroid cancer in persons from Ukrainian population exposed to ionizing radiation and is associated with the increased levels of chromosomal instability. PMID: 28230823
    28. In conclusion, we provide a useful resource on the mutational landscape of ERCC2 mutations in hereditary BC/OC patients and, as our key finding, we demonstrate the complexity of correct interpretation for the discovery of "bonafide" breast cancer susceptibility genes PMID: 27504877
    29. Accumulating evidence suggests that XPA and the helicase activity of transcription factor IIH (TFIIH) cooperate to verify abnormalities in damaged DNA chemistry. (Review) PMID: 27264556
    30. The data indicate that XPD, as a part of the TFIIH complex, due to its iron-sulfur center interacts with the iron sulfur cluster assembly proteins and may interact with other proteins in the cell to mediate a diverse set of biological functions including cell cycle regulation, mitosis, and mitochondrial function. (Review) PMID: 27262611
    31. genetic association studies in population of women in Poland: Data suggest that an SNP in ERCC2 (C to A, R156R, rs238406) is associated with ovarian carcinoma; this SNP is also associated with ovarian cancer progression, assessed by the degree of histological grades and FIGO staging. PMID: 27888704
    32. The analysis results showed that the following polymorphisms were correlated with susceptibility to lung cancer: rs4646903 in CYP1A1 (P < 0.001), rs1048943 in CYP1A1 (P < 0.001), rs1695 in GSTP1 (P < 0.05), rs13181 in ERCC2 (P < 0.001), and rs25487 in XRCC1 (P < 0.05); no such correlation existed in rs861539 in XRCC3 (P > 0.05). PMID: 27819744
    33. There was no association between the XPD Lys751Gln polymorphism and CRC risk. PMID: 27686263
    34. Polymorphisms in XPD gene is associated with gastrointestinal stromal tumours. PMID: 27460091
    35. No association was found between ERCC2 rs13181, and ERCC2 rs1799793 and overall survival of gastric cancer. PMID: 27173253
    36. Study provides evidence that genetic polymorphisms in XPD-751, XRCC1-194 and XRCC1-399 were all correlated with non-small cell lung cancer occurrence. PMID: 25308691
    37. the ERCC2 rs13181 polymorphism is correlated with an increased risk of gliomas in codominant and recessive models, which suggests that this polymorphism could influence the etiology of gliomas. PMID: 27323065
    38. XPD gene polymorphism is associated with acute myeloid leukemia. PMID: 26779634
    39. we conclude that ERCC2 gene polymorphism R156R may be associated with an increased risk of endometrial cancer. PMID: 26349749
    40. No significant association was found for XPD Asp312Asn polymorphism with the risk of autism spectrum disorder. PMID: 27064873
    41. Frequency of XPD-Gln in IFH suggests that this variant may protect against OSCC. PMID: 26742000
    42. Data did not find any association between ERCC2 or ERCC3 gene polymorphisms and the development of osteosarcoma. PMID: 27051024
    43. Photosensitive form of trichothiodystrophy associated with a novel mutation in the XPD gene. PMID: 26577220
    44. No significant association was found between the ERCC2 rs13181 polymorphism and the risk of pancreatic cancer in the codominant, dominant, and recessive models. PMID: 27051038
    45. XPD Lys751Gln polymorphism may be a risk factor for CCRCC. Regarding the XRCC3 Thr241Met polymorphism, an association with CCRCC was found only in XRCC3 Thr241Met/XPD Lys751Gln combined genotypes. PMID: 26682510
    46. Results found no significant association between ERCC2 rs13181 polymorphism and breast cancer in Chinese population. PMID: 26985954
    47. Polymorphisms of ERCC2 gene are associated with HPV-positive cervical cancer. PMID: 25812040
    48. Our data suggest that deregulation of ERCC2 in head and neck cancer (HNC) has the potential to predict a more aggressive cancer phenotype and may be considered a possible biomarker for improved diagnosis and prognosis of HNC. PMID: 26659720
    49. The aim of this study was to investigate the association between polymorphisms of XRCC1 Arg399Gln, XRCC3 Thr241Met, and XPD Lys751Gln and laryngeal cancer risk. PMID: 26898429
    50. ERCC1 rs11615 and rs3212986 and ERCC2 rs13181 and rs1799793 polymorphisms were genotyped using the polymerase chain reaction restriction fragment length polymorphism PMID: 26823845

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  • 相关疾病:
    Xeroderma pigmentosum complementation group D (XP-D); Trichothiodystrophy 1, photosensitive (TTD1); Cerebro-oculo-facio-skeletal syndrome 2 (COFS2)
  • 亚细胞定位:
    Nucleus. Cytoplasm, cytoskeleton, spindle.
  • 蛋白家族:
    Helicase family, RAD3/XPD subfamily
  • 数据库链接:

    HGNC: 3434

    OMIM: 126340

    KEGG: hsa:2068

    STRING: 9606.ENSP00000375809

    UniGene: Hs.487294