epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

EPM2A (laforin) interacting protein 1

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

glycogen synthase kinase 3 beta; Constitutively active protein kinase that acts as a negative regulator in the hormonal control of glucose homeostasis, Wnt signaling and regulation of transcription factors and microtubules, by phosphorylating and inactivating glycogen synthase (GYS1 or GYS2), EIF2B, CTNNB1/beta-catenin, APC, AXIN1, DPYSL2/CRMP2, JUN, NFATC1/NFATC, MAPT/TAU and MACF1. Requires primed phosphorylation of the majority of its substrates. In skeletal muscle, contributes to insulin regulation of glycogen synthesis by phosphorylating and inhibiting GYS1 activity and hence glyc [...]

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

glycogenin 1; Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

glycogenin 2; Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

glycogen synthase 1 (muscle); Transfers the glycosyl residue from UDP-Glc to the non- reducing end of alpha-1,4-glucan

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

glycogen synthase 2 (liver); Transfers the glycosyl residue from UDP-Glc to the non- reducing end of alpha-1,4-glucan

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa); Probably plays a role in facilitating the assembly of multimeric protein complexes inside the ER

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

mitogen-activated protein kinase 1; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signaling cascade initiated by activated KIT and KITLG/SCF. Depending on the cellular context, the MAPK/ERK cascade mediates diverse biological functions such as cell growth, adhesion, survival and differentiation through the regulation of transcription, translation, cytoskeletal rearrangements. The MAPK/ERK cascade plays a [...]

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

mitogen-activated protein kinase 11; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK11 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. MAPK11 functions are mostly redundant with those of MA [...]

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

mitogen-activated protein kinase 15; In vitro, phosphorylates MBP

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

mitogen-activated protein kinase 3; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signaling cascade initiated by activated KIT and KITLG/SCF. Depending on the cellular context, the MAPK/ERK cascade mediates diverse biological functions such as cell growth, adhesion, survival and differentiation through the regulation of transcription, translation, cytoskeletal rearrangements. The MAPK/ERK cascade plays a [...]

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

mitogen-activated protein kinase 4

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

mitogen-activated protein kinase 6; Atypical MAPK protein. Phosphorylates microtubule- associated protein 2 (MAP2) and MAPKAPK5. The precise role of the complex formed with MAPKAPK5 is still unclear, but the complex follows a complex set of phosphorylation events- upon interaction with atypical MAPKAPK5, ERK3/MAPK6 is phosphorylated at Ser-189 and then mediates phosphorylation and activation of MAPKAPK5, which in turn phosphorylates ERK3/MAPK6. May promote entry in the cell cycle (By similarity)

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae); Iron-sulfur cluster scaffold protein which can assemble [4Fe-2S] clusters and deliver them to target proteins

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

NHL repeat containing 1; 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

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

protein phosphatase 1, regulatory subunit 3C; Acts as a glycogen-targeting subunit for PP1 and regulates its activity. Activates glycogen synthase, reduces glycogen phosphorylase activity and limits glycogen breakdown. Dramatically increases basal and insulin-stimulated glycogen synthesis upon overexpression in a variety of cell types

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

protein phosphatase 1, regulatory subunit 3D; Seems to act as a glycogen-targeting subunit for PP1. PP1 is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

protein phosphatase 3, catalytic subunit, alpha isozyme; Calcium-dependent, calmodulin-stimulated protein phosphatase. This subunit may have a role in the calmodulin activation of calcineurin. Dephosphorylates DNM1L, HSPB1 and SSH1

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

protein kinase, AMP-activated, alpha 1 catalytic subunit; Catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes- inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as [...]

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

protein kinase, AMP-activated, alpha 2 catalytic subunit; Catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes- inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as [...]