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PGRMC1 | progesterone receptor membrane component 1; Receptor for progesterone (By similarity) (195 aa) | |||
STBD1 | starch binding domain 1; May have the capability to bind to carbohydrates (Potential) (358 aa) | |||
PPP1R3C | 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 (317 aa) | |||
GYS2 | glycogen synthase 2 (liver); Transfers the glycosyl residue from UDP-Glc to the non- reducing end of alpha-1,4-glucan (703 aa) | |||
ALG1 | asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae); Participates in the formation of the lipid-linked precursor oligosaccharide for N-glycosylation. Involved in assembling the dolichol-pyrophosphate-GlcNAc(2)-Man(5) intermediate on the cytoplasmic surface of the ER (464 aa) | |||
RPS27A | ribosomal protein S27a (156 aa) | |||
AGL | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (1532 aa) | |||
SLC7A3 | solute carrier family 7 (cationic amino acid transporter, y+ system), member 3; Mediates the uptake of the cationic amino acids arginine, lysine and ornithine in a sodium-independent manner (619 aa) | |||
UBB | ubiquitin B (229 aa) | |||
GAA | glucosidase, alpha; acid; Essential for the degradation of glygogen to glucose in lysosomes (952 aa) | |||
GYS1 | glycogen synthase 1 (muscle); Transfers the glycosyl residue from UDP-Glc to the non- reducing end of alpha-1,4-glucan (737 aa) | |||
ALG1L | asparagine-linked glycosylation 1-like; Putative glycosyltransferase (By similarity) (187 aa) | |||
GYG1 | glycogenin 1; Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase (350 aa) | |||
UBC | ubiquitin C (685 aa) | |||
NHLRC1 | 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 (395 aa) | |||
MFAP5 | microfibrillar associated protein 5; Component of the elastin-associated microfibrils (173 aa) | |||
NENF | neudesin neurotrophic factor; Displays neurotrophic activity and activates phosphorylation of MAPK1/ERK2, MAPK3/ERK1 and AKT1/AKT in primary cultured neurons. Does not have mitogenic activity in primary cultured astrocytes. May play a role on neuronal differentiation and may have a transient effect on neural cell proliferation in neural precursor cells. Neurotrophic activity is enhanced by binding to heme (By similarity) (172 aa) | |||
EPM2A | epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) (331 aa) | |||
PIGA | phosphatidylinositol glycan anchor biosynthesis, class A; Necessary for the synthesis of N-acetylglucosaminyl- phosphatidylinositol, the very early intermediate in GPI-anchor biosynthesis (484 aa) | |||
GYG2 | glycogenin 2; Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase (501 aa) | |||
UBA52 | ubiquitin A-52 residue ribosomal protein fusion product 1 (128 aa) | |||
GBE1 | glucan (1,4-alpha-), branching enzyme 1; Required for sufficient glycogen accumulation. The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule and, consequently, in reducing the osmotic pressure within cells (702 aa) | |||
ALG2 | asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae); Mannosylates Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)- dolichol diphosphate (416 aa) | |||
PGRMC2 | progesterone receptor membrane component 2; Receptor for steroids (Potential) (247 aa) | |||
ALG11 | asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast); Mannosyltransferase involved in the last steps of the synthesis of Man5GlcNAc(2)-PP-dolichol core oligosaccharide on the cytoplasmic face of the endoplasmic reticulum. Catalyzes the addition of the 4th and 5th mannose residues to the dolichol- linked oligosaccharide chain (492 aa) | |||
ALDH6A1 | aldehyde dehydrogenase 6 family, member A1; Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA (535 aa) |