Overview

Description

  • Nature
    Synthetic
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      C-HSIKVYKVDWG
    • Amino acids
      385 to 395

Specifications

Our Abpromise guarantee covers the use of ab45674 in the following tested applications.

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

  • Applications

    Blocking

  • Form
    Liquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.

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

References

ab45674 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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