Description

  • Product name

    Recombinant Human NHLRC1/Malin protein
  • Expression system

    Wheat germ
  • Protein length

    Protein fragment
  • Animal free

    No
  • Nature

    Recombinant
    • Species

      Human
    • Sequence

      KTGRVVVVHDGRRRVKIFDSGGGCAHQFGEKGDAAQDIRYPVDVTITNDC HVVVTDAGDRSIKVFDFFGQIKLVIGGQFSLPWGVETTPQNGIVVTDAEA GSLHLLDVDF
    • Amino acids

      137 to 246
    • Tags

      GST tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab166392 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

  • Form

    Liquid
  • Additional notes

    Protein concentration is above or equal to 0.05 mg/ml.

     This product was previously labelled as NHLRC1

     

  • 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

    • bA204B7.2
    • E3 ubiquitin-protein ligase NHLRC1
    • EPM2A
    • EPM2B
    • EPM2B gene
    • Malin
    • MGC119262
    • MGC119264
    • MGC119265
    • NHL repeat containing 1
    • NHL repeat containing E3 ubiquitin protein ligase 1
    • NHL repeat containing protein 1
    • NHL repeat-containing protein 1
    • NHL repeat-containing protein 1 gene
    • NHLC1_HUMAN
    • NHLRC 1
    • Nhlrc1
    see all
  • Function

    E3 ubiquitin-protein ligase. Together with the phosphatase EPM2A/laforin, appears to be involved in the clearance of toxic polyglucosan and protein aggregates via multiple pathways. In complex with EPM2A/laforin and HSP70, suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Ubiquitinates the glycogen-targeting protein phosphatase subunits PPP1R3C/PTG and PPP1R3D in a laforin-dependent manner and targets them for proteasome-dependent degradation, thus decreasing glycogen accumulation. Polyubiquitinates EPM2A/laforin and ubiquitinates AGL and targets them for proteasome-dependent degradation. Also promotes proteasome-independent protein degradation through the macroautophagy pathway.
  • Tissue specificity

    Expressed in brain, cerebellum, spinal cord, medulla, heart, liver, skeletal muscle and pancreas.
  • Pathway

    Protein modification; protein ubiquitination.
  • Involvement in disease

    Epilepsy, progressive myoclonic 2
  • Sequence similarities

    Contains 6 NHL repeats.
    Contains 1 RING-type zinc finger.
  • Domain

    The RING domain is essential for ubiquitin E3 ligase activity.
  • Cellular localization

    Endoplasmic reticulum. Nucleus. Localizes at the endoplasmic reticulum and, to a lesser extent, in the nucleus.
  • Information by UniProt

Images

  • ab166392 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab166392 has not yet been referenced specifically in any publications.

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