laforin Plays an important role in preventing glycogen hyperphosphorylation and the formation of insoluble aggregates, via its activity as glycogen phosphatase, and by promoting the ubiquitination of proteins involved in glycogen metabolism via its interaction with the E3 ubiquitin ligase NHLRC1/malin. Shows strong phosphatase activity towards complex carbohydrates in vitro, avoiding glycogen hyperphosphorylation which is associated with reduced branching and formation of insoluble aggregates. Dephosphorylates phosphotyrosine and synthetic substrates, such as para-nitrophenylphosphate (pNPP), and has low activity with phosphoserine and phosphothreonine substrates (in vitro). Has been shown to dephosphorylate MAPT. Forms a complex with NHLRC1/malin and HSP70, which suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Acts as a scaffold protein to facilitate PPP1R3C/PTG ubiquitination by NHLRC1/malin. Also promotes proteasome-independent protein degradation through the macroautophagy pathway. Isoform 2: does not bind to glycogen. Lacks phosphatase activity and might function as a dominant-negative regulator for the phosphatase activity of isoform 1 and isoform 7. Isoform 7: has phosphatase activity (in vitro). Belongs to the protein-tyrosine phosphatase family. Expressed in heart, skeletal muscle, kidney, pancreas and brain. Isoform 4 is also expressed in the placenta. 8 alternative splicing and alternative initiation human isoforms have been reported. Note: This description may include information from UniProtKB.
Protein type: EC; EC; Motility/polarity/chemotaxis; Protein phosphatase, dual-specificity
Chromosomal Location of human Ortholog: 6q24.3
Cellular Component:  nucleus
Molecular Function:  protein binding
Biological Process:  negative regulation of TOR signaling; positive regulation of macroautophagy
Disease: Myoclonic Epilepsy Of Lafora
Reference #:  O95278 (UniProtKB)
Alt. Names/Synonyms: epilepsy, progressive myoclonus type 2, Lafora disease (laforin); epilepsy, progressive myoclonus type 2A, Lafora disease (laforin); EPM2; EPM2A; EPM2A glucan phosphatase, laforin; EPM2A, laforin glucan phosphatase; Glucan phosphatase; Glycogen phosphatase; Lafora PTPase; Laforin; LAFPTPase; MELF
Gene Symbols: EPM2A
Molecular weight: 37,158 Da
Basal Isoelectric point: 6.19  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

Cross-references to other databases:  AlphaFold  |  STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  RCSB PDB  |  ENZYME  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  Ensembl Protein