Overview

Description

  • Nature

    Recombinant
  • Source

    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species

      Human
    • Sequence

      MKCLPENSAPLIEFANVSQGILLLLMLKQHLKNLCGFSDSKIQKYSPSES AKVYDKAINRKTGVHFHPKQTLDFLRSDMANSKITEEVKRSIVKQYLDFK LLMEHLDPDEEEEEGEVSASTNARNKAITSLLGGGSPKNNTAAETEDDES DGEDRGGGTSGVRRRRSQRISQRIT
    • Molecular weight

      46 kDa including tags
    • Amino acids

      2524 to 2697

Specifications

Our Abpromise guarantee covers the use of ab131913 in the following tested applications.

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

  • Applications

    ELISA

    Western blot

    SDS-PAGE

  • Form

    Liquid
  • Additional notes

    Protein concentration is above or equal to 0.05 µg/µl

     This product was previously labelled as IDN3

     

  • 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: 0.3% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names

    • CDLS
    • Colon tumor susceptibility 2
    • Delangin
    • DKFZp434L1319
    • FLJ11203
    • FLJ12597
    • FLJ13354
    • FLJ13648
    • FLJ44854
    • IDN 3
    • IDN 3 protein
    • IDN 3 protein isoform A
    • IDN 3 protein isoform B
    • IDN 3B
    • IDN3 B
    • IDN3 protein
    • IDN3 protein isoform A
    • IDN3 protein isoform B
    • IDN3B
    • Mis 4
    • Mis4
    • Nipbl
    • NIPBL_HUMAN
    • Nipped B homolog
    • Nipped B homolog (Drosophila)
    • Nipped B like
    • Nipped B like protein
    • Nipped-B-like protein
    • Scc 2
    • SCC 2 homolog
    • Scc2
    • SCC2 homolog
    • Sister chromatid cohesion protein Mis4
    see all
  • Function

    Probably plays a structural role in chromatin. Involved in sister chromatid cohesion, possibly by interacting with the cohesin complex.
  • Tissue specificity

    Widely expressed. Highly expressed in heart, skeletal muscle, fetal and adult liver, fetal and adult kidney. Expressed at intermediates level in thymus, placenta, peripheral leukocyte and small intestine. Weakly or not expressed in brain, colon, spleen and lung.
  • Involvement in disease

    Cornelia de Lange syndrome 1
  • Sequence similarities

    Belongs to the SCC2/Nipped-B family.
    Contains 5 HEAT repeats.
  • Developmental stage

    In embryos, it is expressed in developing limbs and later in cartilage primordia of the ulna and of various hand bones. Sites of craniofacial expression include the cartilage primordium of the basioccipital and basisphenoid skull bones and elsewhere in the head and face, including a region encompassing the mesenchyme adjacent to the cochlear canal. Also expressed in the spinal column, notochord and surface ectoderm sclerotome and what seem to be migrating myoblasts. Expressed in the developing heart in the atrial and ventricular myocardium and in the ventricular tubeculae but absent in the endocardial cushions. Also expressed in the developing esophagus, trachea and midgut loops, in the bronchi of the lung and in the tubules of the metanephros. Expression in organs and tissues not typically affected in CDL (e.g. the developing trachea, bronchi, esophagus, heart and kidney) may reflect a bias towards underreporting of more subtle aspects of the phenotype or problems that typically present later in life. Expressed in the mesenchyme surrounding the cochlear canal possibly reflecting the hearing impairment commonly found. Weakly or not expressed in embryonic brain.
  • Domain

    Contains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif, which is required for interaction with chromoshadow domains. This motif requires additional residues -7, -6, +4 and +5 of the central Val which contact the chromoshadow domain.
  • Cellular localization

    Nucleus.
  • Information by UniProt

Images

  • ab131913 on a 12.5% SDS-PAGE Stained with Coomassie Blue.

References

This product has been referenced in:

  • Nolen LD  et al. Regional chromatin decompaction in Cornelia de Lange syndrome associated with NIPBL disruption can be uncoupled from cohesin and CTCF. Hum Mol Genet 22:4180-93 (2013). WB . Read more (PubMed: 23760082) »
See 1 Publication for this product

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