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  4. Recombinant Human Fanconi anemia group C protein (FANCC)

Recombinant Human Fanconi anemia group C protein (FANCC)

  • 货号：
    CSB-YP008415HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP008415HU-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-BP008415HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP008415HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    FANCC
  • Uniprot No.：
  • 别名：
    bA80I15.1; FA 3; FA3; FAC; FACC; FANCC; FANCC_HUMAN; Fanconi anemia complementation group C; Fanconi anemia complementation group C protein; Fanconi anemia group C protein; Fanconi pancytopenia type 3; FLJ14675; Protein FACC
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full length protein
  • 表达区域：
    1-558
  • 氨基酸序列
    MAQDSVDLSC DYQFWMQKLS VWDQASTLET QQDTCLHVAQ FQEFLRKMYE ALKEMDSNTV IERFPTIGQL LAKACWNPFI LAYDESQKIL IWCLCCLINK EPQNSGQSKL NSWIQGVLSH ILSALRFDKE VALFTQGLGY APIDYYPGLL KNMVLSLASE LRENHLNGFN TQRRMAPERV ASLSRVCVPL ITLTDVDPLV EALLICHGRE PQEILQPEFF EAVNEAILLK KISLPMSAVV CLWLRHLPSL EKAMLHLFEK LISSERNCLR RIECFIKDSS LPQAACHPAI FRVVDEMFRC ALLETDGALE IIATIQVFTQ CFVEALEKAS KQLRFALKTY FPYTSPSLAM VLLQDPQDIP RGHWLQTLKH ISELLREAVE DQTHGSCGGP FESWFLFIHF GGWAEMVAEQ LLMSAAEPPT ALLWLLAFYY GPRDGRQQRA QTMVQVKAVL GHLLAMSRSS SLSAQDLQTV AGQGTDTDLR APAQQLIRHL LLNFLLWAPG GHTIAWDVIT LMAHTAEITH EIIGFLDQTL YRWNRLGIES PRSEKLAREL LKELRTQV
  • 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：
    DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Upon IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1.
  • 基因功能参考文献：
    1. mutation IVS4+4A>T is the most prevalent mutation in our group of patients. This analysis of Pakistani patients also suggests that there is no significant difference between IVS4+4A>T homozygotes and the rest of the patients with regard to severity of clinical phenotype. PMID: 28425259
    2. The finding that FANCC overexpression reduced betacell apoptosis advances the potential for an alternative approach to the treatment of Diabetes mellitus caused by FANCC defects PMID: 29901137
    3. Lung adenocarcinomas in both male and female patients were associated with (a) genotypic polymorphisms of FANCC and FANCD1. PMID: 26842001
    4. Israeli ATM, BLM, and FANCC heterozygous mutation carriers are not at an increased risk for developing cancer. PMID: 26778106
    5. FANCC interacts and co-localizes with STMN1 at centrosomes during mitosis. We also showed that FANCC is required for STMN1 phosphorylation. PMID: 26466335
    6. FANCC interferes with UNC5A's functions in apoptosis and suggest that FANCC may participate in developmental processes through association with the dependence receptor UNC5A. PMID: 24676280
    7. The successful in vitro repair of the mutated Fanconi anemia FANCC gene using the CRISPR/Cas9 system has been described. PMID: 25545896
    8. deregulations of the FANCC-mediated DNA damage repair pathway and the PTCH1-associated sonic hedgehog pathway are associated with the development of early dysplastic head and neck lesions. PMID: 21861228
    9. we identified faults in two genes, Fanconi C and Bloom helicase( FANCC and BLM), in six families. Faults in these genes appear to increase the risk of developing breast cancer PMID: 23028338
    10. FANCC polymorphisms might be associated with the obstructive symptoms in allergic diseases. PMID: 21670957
    11. FA DNA repair genes, FANCD2, FANCL, and FANCC, are transcriptionally upregulated differently in melanoma compared with non-melanoma skin cancer PMID: 21697891
    12. genetic diversity in FANCA, FANCC and FANCL does not support an association of these genes with cervical cancer susceptibility in the Swedish population. PMID: 21543111
    13. Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in Fanconi anemia patients and is enhanced by delivery of suppressor U1 snRNAs. PMID: 20869034
    14. we identified a hepatocellular carcinoma cell line harboring an inactivating mutation of the FANCC gene, specifically causing proximal FA pathway inactivation and the classic cellular DNA interstrand-crosslinking agents-hypersensitivity phenotype PMID: 20509860
    15. study found genetic interaction between Fanconi anemia(FA)gene FANCC and Ku70; results indicate FA pathway promotes homologous recombination repair of DNA double-strand breaks (DSBs) by counteracting Ku70; suggest this achieved by modification of DSBs PMID: 20538911
    16. The Fanconi anemia protein, FANCE, promotes the nuclear accumulation of this protein. PMID: 12239156
    17. Hsp70 requires the cooperation of FANCC to suppress PKR activity and support survival of hematopoietic cells and FANCC does not require the multimeric Fanconi anemia complex to exert this function PMID: 12397061
    18. Fancc-/- phenotypically defined cell populations enriched for hematopoietic stem and progenitor cells exhibit increased cycling PMID: 12763929
    19. FANCC undergoes proteolytic modification by a caspase into a predominant 47-kDa ubiquitinated protein fragment. Lack of proteolytic modification at the putative cleavage site delays apoptosis. PMID: 14625294
    20. Fanconi anemia C gene product regulates expression of genes involved in differentiation and inflammation. PMID: 15077170
    21. Inappropriate activation of Protein kinase regulated by RNA may cause mutations in FANCC> PMID: 15299030
    22. Data show that the Fanconi anemia protein FANCC cooperate with key mutagenesis and repair processes that enable replication of damaged DNA. PMID: 15327776
    23. spontaneous SCE levels were elevated approximately 2-fold in cells deficient in Fanconi anemia gene FANCC PMID: 15616572
    24. FANCC, FANCE, and FANCD2 form a ternary complex in the Fanconi anemia DNA damage response pathway PMID: 16127171
    25. analysis of two new mutations that inactivate the function of the FANCC protein PMID: 16429406
    26. nuclear accumulation of FANCE does not rely solely on its nuclear localization signal motifs, but also on FANCC PMID: 16513431
    27. FANCC-deficient cells are hypersensitive to DNA cross-linking reagents. PMID: 17490643
    28. We found six differentially expressed proteins; among them, the checkpoint mediator protein MDC1 whose expression was disrupted in FANCC-/- cells. PMID: 17977515
    29. the first report to describe hypermethylation of FANCL in leukemia PMID: 18607065
    30. Differential association of alterations in FANCC and PTCH1 with that of PHF2, XPA and two breast cancer susceptibility genes (BRCA1/BRCA2) in the two age groups suggests differences in their molecular pathogenesis. PMID: 18990233

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  • 相关疾病：
    Fanconi anemia complementation group C (FANCC)
  • 亚细胞定位：
    Nucleus. Cytoplasm. Note=The major form is nuclear. The minor form is cytoplasmic.
  • 组织特异性：
    Ubiquitous.
  • 数据库链接：

    HGNC: 3584

    OMIM: 227645

    KEGG: hsa:2176

    STRING: 9606.ENSP00000289081

    UniGene: Hs.494529