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Protein Page:
NHLRC1 (human)

Overview
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 6.3.2.19; Ubiquitin ligase; Ligase; EC 6.3.2.-; Ubiquitin conjugating system
Chromosomal Location of Human Ortholog: 6p22.3
Cellular Component: endoplasmic reticulum; perinuclear region of cytoplasm; cytosol; nucleus
Molecular Function: protein binding; zinc ion binding; ubiquitin-protein ligase activity; ligase activity
Biological Process: proteasomal ubiquitin-dependent protein catabolic process; glycogen biosynthetic process; protein polyubiquitination; positive regulation of protein ubiquitination; carbohydrate metabolic process; glucose metabolic process; autophagy
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

NHLRC1

Protein Structure Not Found.


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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 S376-p LTFTKENsLLVLDTA
  mouse

 
S379 LAFTKENSLLVLDTA
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