Overview

  • Product name

    Recombinant Human FANCI protein
  • Protein length

    Protein fragment

Description

  • Nature

    Recombinant
  • Source

    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species

      Human
    • Sequence

      MFKDVPLTAEEVEFVVEKALSMFSKMNLQEIPPLVYQLLVLSSKGSRKSV LEGIIAFFSALDKQHNEEQSGDE
    • 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
  • Additional notes

    Protein concentration is above or equal to 0.05 mg/mL. This protein is best used within three months from the date of receipt.

  • 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.
  • Information by UniProt

Images

  • SDS-PAGE analysis of ab132153 on a 12.5% gel stained with Coomassie Blue.

References

ab132153 has not yet been referenced specifically in any publications.

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