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Epigenetics and Nuclear Signaling DNA / RNA DNA Damage & Repair Homologous Recomb.
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Recombinant Human FANCI protein (ab132153)

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SDS-PAGE - Recombinant Human FANCI protein (ab132153)

    Key features and details

    • Expression system: Wheat germ
    • Tags: GST tag N-Terminus
    • Suitable for: ELISA, SDS-PAGE, WB

    Description

    • Product name

      Recombinant Human FANCI protein
    • Expression system

      Wheat germ
    • Accession

      Q9NVI1
    • Protein length

      Protein fragment
    • Animal free

      No
    • Nature

      Recombinant
      • Species

        Human
      • Sequence

        MFKDVPLTAEEVEFVVEKALSMFSKMNLQEIPPLVYQLLVLSSKGSRKSV LEGIIAFFSALDKQHNEEQSGDE
      • Predicted molecular weight

        34 kDa including tags
      • Amino acids

        180 to 252
      • Tags

        GST tag N-Terminus

    Specifications

    Our Abpromise guarantee covers the use of ab132153 in the following tested applications.

    The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

    • Applications

      ELISA

      SDS-PAGE

      Western blot

    • Form

      Liquid
    • Concentration information loading...

    Preparation and Storage

    • Stability and Storage

      Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

      pH: 8.00
      Constituents: 0.31% Glutathione, 0.79% Tris HCl

    General Info

    • Alternative names

      • FANCI
      • FANCI gene
      • FANCI_HUMAN
      • Fanconi anemia group I protein
      • Fanconi anemia, complementation group I
      • FLJ10719
      • FLJ14658
      • KIAA1794
      • Protein FACI
      • Protein FANCI
      see all
    • Function

      Required for maintenance of chromosomal stability. Involved in the repair of DNA double-strand breaks by homologous recombination and in the repair of DNA cross-links. Participates in S phase and G2 phase checkpoint activation upon DNA damage. Promotes FANCD2 ubiquitination and recruitment to DNA repair sites.
    • Involvement in disease

      Defects in FANCI are a cause of Fanconi anemia complementation group I (FANCI) [MIM:609053]. It is a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
    • Domain

      The C-terminal 30 residues are probably required for function in DNA repair.
    • Post-translational
      modifications

      Monoubiquitinated on Lys-523 during S phase and upon genotoxic stress. Deubiquitinated by USP1 as cells enter G2/M, or once DNA repair is completed. Monoubiquitination requires the FANCA-FANCB-FANCC-FANCE-FANCF-FANCG-FANCM complex. Ubiquitination is required for binding to chromatin, DNA repair, and normal cell cycle progression.
      Phosphorylated in response to DNA damage by ATM and/or ATR.
    • Cellular localization

      Nucleus. Concentrates in nuclear foci upon genotoxic stress.
    • Target information above from: UniProt accession Q9NVI1 The UniProt Consortium
      The Universal Protein Resource (UniProt) in 2010
      Nucleic Acids Res. 38:D142-D148 (2010) .

      Information by UniProt

    Images

    • SDS-PAGE - Recombinant Human FANCI protein (ab132153)
      SDS-PAGE - Recombinant Human FANCI protein (ab132153)
      SDS-PAGE analysis of ab132153 on a 12.5% gel stained with Coomassie Blue.

    Protocols

    To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.

    Click here to view the general protocols

    Datasheets and documents

    • SDS download

    • Datasheet download

      Download

    References (0)

    Publishing research using ab132153? Please let us know so that we can cite the reference in this datasheet.

    ab132153 has not yet been referenced specifically in any publications.

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