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NHLRC1 E3 ubiquitin-protein ligase which 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 PPP1R3C/PTG in a laforin-dependent manner, and targets it for proteasome-dependent degradation and this degradation decreases glycogen accumulation. Polyubiquitinates EPM2A/laforin and ubiquitinates AGL and targets them for proteasome-dependent degradation. Defects in NHLRC1 are a cause of progressive myoclonic epilepsy type 2 (EPM2); also known as Lafora disease. EPM2 is an autosomal recessive and severe form of adolescent-onset progressive epilepsy. Typically, as seizures increase in frequency, cognitive function declines towards dementia, and affected individuals die usually within 10 years after onset. EPM2 occurs worldwide, but it is particularly common in the mediterranean countries of southern Europe and northern Africa, in southern India and in the Middle East. At the cellular level, it is characterized by accumulation of starch-like polyglucosans called Lafora bodies (LBs) that are most abundant in organs with the highest glucose metabolism: brain, heart, liver and skeletal muscle. Among other conditions involving polyglucosans, EPM2 is unique in that the inclusions are in neuronal dendrites but not axons and the forming polyglucosan fibrils are associated with the endoplasmic reticulum. Note: This description may include information from UniProtKB.
Protein type: EC 6.3.2.-; EC; Ligase; Ubiquitin conjugating system; Ubiquitin ligase
Chromosomal Location of Human Ortholog: 6p22.3
Cellular Component: cytosol; endoplasmic reticulum; nucleus; perinuclear region of cytoplasm
Molecular Function: metal ion binding; protein binding; ubiquitin-protein transferase activity
Biological Process: autophagy; glycogen biosynthetic process; positive regulation of protein ubiquitination; proteasomal ubiquitin-dependent protein catabolic process; protein polyubiquitination
Disease: Myoclonic Epilepsy Of Lafora
Reference #:  Q6VVB1 (UniProtKB)
Alt. Names/Synonyms: bA204B7.2; EPM2A; EPM2B; Malin; MGC119262; MGC119264; MGC119265; NHL repeat containing 1; NHL repeat-containing protein 1; NHLC1; NHLRC1
Gene Symbols: NHLRC1
Molecular weight: 42,293 Da
Basal Isoelectric point: 6.99  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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