NHLRC1 Antibody (Center) Blocking peptide
Synthetic peptide
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Primary Accession | Q6VVB1 |
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Clone Names | 100324041 |
Gene ID | 378884 |
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Other Names | E3 ubiquitin-protein ligase NHLRC1, 632-, Malin, NHL repeat-containing protein 1, NHLRC1, EPM2B |
Target/Specificity | The synthetic peptide sequence used to generate the antibody AP13383c was selected from the Center region of NHLRC1. A 10 to 100 fold molar excess to antibody is recommended. Precise conditions should be optimized for a particular assay. |
Format | Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed. |
Storage | Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C. |
Precautions | This product is for research use only. Not for use in diagnostic or therapeutic procedures. |
Name | NHLRC1 |
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Synonyms | EPM2B |
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. |
Cellular Location | Endoplasmic reticulum. Nucleus. Note=Localizes at the endoplasmic reticulum and, to a lesser extent, in the nucleus |
Tissue Location | Expressed in brain, cerebellum, spinal cord, medulla, heart, liver, skeletal muscle and pancreas |
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Provided below are standard protocols that you may find useful for product applications.
Background
The protein encoded by this gene is a single subunit E3ubiquitin ligase. Laforin is polyubiquitinated by the encodedprotein. Defects in this intronless gene lead to an accumulation oflaforin and onset of Lafora disease, also known as progressivemyoclonic epilepsy type 2 (EPM2).
References
Moreno, D., et al. Mol. Biol. Cell 21(15):2578-2588(2010)Rao, S.N., et al. J. Biol. Chem. 285(2):1404-1413(2010)Traore, M., et al. Neurogenetics 10(4):319-323(2009)Singh, S., et al. Hum. Mutat. 30(5):715-723(2009)Vernia, S., et al. PLoS ONE 4 (6), E5907 (2009) :
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