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E3 ubiquitin-protein ligase NHLRC1
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
機能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.
組織特異性Expressed in brain, cerebellum, spinal cord, medulla, heart, liver, skeletal muscle and pancreas.
パスウェイProtein modification; protein ubiquitination.
関連疾患Epilepsy, progressive myoclonic 2
配列類似性Contains 6 NHL repeats. Contains 1 RING-type zinc finger.
ドメインThe RING domain is essential for ubiquitin E3 ligase activity.
細胞内局在Endoplasmic reticulum. Nucleus. Localizes at the endoplasmic reticulum and, to a lesser extent, in the nucleus.