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EPM2A glucan phosphatase, laforin

Summary

Gene Symbol

EPM2A

Aliases

LD
LDE

Organism

Homo sapiens (human)

External Links

NCBI Gene

7957

HGNC

3413

PubChem

7957

Alliance of Genome Resources

HGNC:3413

Annotation

Keyword

3D-structure
Alternative initiation
Alternative splicing
Autophagy
Cell membrane
Cytoplasm
Disease variant
Endoplasmic reticulum
Epilepsy
Glycogen metabolism
Glycogen storage disease
Neurodegeneration
Nucleus
Phosphoprotein
Protein phosphatase
Reference proteome
Ubl conjugation

Proteins

Displaying 1 entry
UniProt	Protein Name
O95278	Glucan phosphatase Glycogen phosphatase Lafora PTPase

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entry **26 - 26** of 26 in total

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GO Term	Evidence Code	PMID
carbohydrate phosphorylation

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

proteolysis [inference]

proteolysis involved in protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

modification-dependent protein catabolic process [inference]

ubiquitin-dependent protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

protein modification process [inference]

protein dephosphorylation

peptidyl-tyrosine dephosphorylation

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

catabolic process [inference]

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

modification-dependent macromolecule catabolic process [inference]

modification-dependent protein catabolic process [inference]

ubiquitin-dependent protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

cellular metabolic process [inference]

generation of precursor metabolites and energy [inference]

energy derivation by oxidation of organic compounds [inference]

energy reserve metabolic process [inference]

glycogen metabolic process

glycogen biosynthetic process

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phosphorylation [inference]

carbohydrate phosphorylation

dephosphorylation

protein dephosphorylation

peptidyl-tyrosine dephosphorylation

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

primary metabolic process [inference]

carbohydrate metabolic process [inference]

polysaccharide metabolic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

glucan metabolic process [inference]

glycogen metabolic process

glycogen biosynthetic process

glucan biosynthetic process [inference]

glycogen biosynthetic process

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

carbohydrate phosphorylation

protein metabolic process [inference]

proteolysis [inference]

proteolysis involved in protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

modification-dependent protein catabolic process [inference]

ubiquitin-dependent protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

protein modification process [inference]

protein dephosphorylation

peptidyl-tyrosine dephosphorylation

organic substance metabolic process [inference]

carbohydrate metabolic process [inference]

polysaccharide metabolic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

glucan metabolic process [inference]

glycogen metabolic process

glycogen biosynthetic process

glucan biosynthetic process [inference]

glycogen biosynthetic process

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

carbohydrate phosphorylation

macromolecule metabolic process [inference]

polysaccharide metabolic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

glucan metabolic process [inference]

glycogen metabolic process

glycogen biosynthetic process

glucan biosynthetic process [inference]

glycogen biosynthetic process

macromolecule catabolic process [inference]

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

modification-dependent macromolecule catabolic process [inference]

modification-dependent protein catabolic process [inference]

ubiquitin-dependent protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

protein metabolic process [inference]

proteolysis [inference]

proteolysis involved in protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

modification-dependent protein catabolic process [inference]

ubiquitin-dependent protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

protein modification process [inference]

protein dephosphorylation

peptidyl-tyrosine dephosphorylation

macromolecule modification [inference]

protein modification process [inference]

protein dephosphorylation

peptidyl-tyrosine dephosphorylation

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

proteolysis [inference]

proteolysis involved in protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

modification-dependent protein catabolic process [inference]

ubiquitin-dependent protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

protein modification process [inference]

protein dephosphorylation

peptidyl-tyrosine dephosphorylation

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

modification-dependent macromolecule catabolic process [inference]

modification-dependent protein catabolic process [inference]

ubiquitin-dependent protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

Wnt signaling pathway

cell population proliferation [inference]

glial cell proliferation

cellular metabolic process [inference]

generation of precursor metabolites and energy [inference]

energy derivation by oxidation of organic compounds [inference]

energy reserve metabolic process [inference]

glycogen metabolic process

glycogen biosynthetic process

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phosphorylation [inference]

carbohydrate phosphorylation

dephosphorylation

protein dephosphorylation

peptidyl-tyrosine dephosphorylation

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

transmembrane transport [inference]

organic acid transmembrane transport [inference]

carboxylic acid transmembrane transport [inference]

amino acid transmembrane transport [inference]

L-alpha-amino acid transmembrane transport [inference]

L-glutamate transmembrane transport

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

mitochondrion organization

vacuole organization [inference]

autophagosome organization [inference]

autophagosome assembly

organelle assembly [inference]

autophagosome assembly

cellular component assembly [inference]

organelle assembly [inference]

autophagosome assembly

multicellular organismal process [inference]

system process [inference]

nervous system process [inference]

cognition [inference]

learning or memory [inference]

learning [inference]

nonassociative learning [inference]

habituation

behavior [inference]

learning or memory [inference]

learning [inference]

nonassociative learning [inference]

habituation

localization [inference]

establishment of localization [inference]

transport [inference]

monoatomic ion transport [inference]

monoatomic cation transport [inference]

metal ion transport [inference]

calcium ion transport

transmembrane transport [inference]

organic acid transmembrane transport [inference]

carboxylic acid transmembrane transport [inference]

amino acid transmembrane transport [inference]

L-alpha-amino acid transmembrane transport [inference]

L-glutamate transmembrane transport

organic substance transport [inference]

calcium ion transport

organic anion transport [inference]

carboxylic acid transport [inference]

dicarboxylic acid transport [inference]

L-glutamate import [inference]

L-glutamate transmembrane transport

amino acid transport [inference]

amino acid transmembrane transport [inference]

L-alpha-amino acid transmembrane transport [inference]

L-glutamate transmembrane transport

acidic amino acid transport [inference]

L-glutamate import [inference]

L-glutamate transmembrane transport

L-amino acid transport [inference]

L-glutamate import [inference]

L-glutamate transmembrane transport

L-alpha-amino acid transmembrane transport [inference]

L-glutamate transmembrane transport

carboxylic acid transmembrane transport [inference]

amino acid transmembrane transport [inference]

L-alpha-amino acid transmembrane transport [inference]

L-glutamate transmembrane transport

organic acid transport [inference]

carboxylic acid transport [inference]

dicarboxylic acid transport [inference]

L-glutamate import [inference]

L-glutamate transmembrane transport

amino acid transport [inference]

amino acid transmembrane transport [inference]

L-alpha-amino acid transmembrane transport [inference]

L-glutamate transmembrane transport

acidic amino acid transport [inference]

L-glutamate import [inference]

L-glutamate transmembrane transport

L-amino acid transport [inference]

L-glutamate import [inference]

L-glutamate transmembrane transport

L-alpha-amino acid transmembrane transport [inference]

L-glutamate transmembrane transport

carboxylic acid transmembrane transport [inference]

amino acid transmembrane transport [inference]

L-alpha-amino acid transmembrane transport [inference]

L-glutamate transmembrane transport

organic acid transmembrane transport [inference]

carboxylic acid transmembrane transport [inference]

amino acid transmembrane transport [inference]

L-alpha-amino acid transmembrane transport [inference]

L-glutamate transmembrane transport

nitrogen compound transport [inference]

amino acid transport [inference]

amino acid transmembrane transport [inference]

L-alpha-amino acid transmembrane transport [inference]

L-glutamate transmembrane transport

acidic amino acid transport [inference]

L-glutamate import [inference]

L-glutamate transmembrane transport

L-amino acid transport [inference]

L-glutamate import [inference]

L-glutamate transmembrane transport

L-alpha-amino acid transmembrane transport [inference]

L-glutamate transmembrane transport

amide transport [inference]

L-glutamate import [inference]

L-glutamate transmembrane transport

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

negative regulation of gene expression

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of protein metabolic process [inference]

negative regulation of protein modification process [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

negative regulation of cellular metabolic process [inference]

negative regulation of phosphorus metabolic process [inference]

negative regulation of phosphate metabolic process [inference]

negative regulation of dephosphorylation

negative regulation of phosphatase activity

negative regulation of phosphorylation [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of nitrogen compound metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of protein modification process [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

positive regulation of metabolic process [inference]

positive regulation of catabolic process [inference]

positive regulation of cellular catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy

positive regulation of cellular metabolic process [inference]

positive regulation of cellular catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy

regulation of catabolic process [inference]

positive regulation of catabolic process [inference]

positive regulation of cellular catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy

regulation of cellular catabolic process [inference]

regulation of autophagy [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy

regulation of macroautophagy [inference]

positive regulation of macroautophagy

positive regulation of cellular catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy

regulation of protein catabolic process [inference]

regulation of proteasomal protein catabolic process

regulation of cellular metabolic process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of phosphorus metabolic process [inference]

negative regulation of phosphate metabolic process [inference]

negative regulation of dephosphorylation

negative regulation of phosphatase activity

negative regulation of phosphorylation [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

positive regulation of cellular metabolic process [inference]

positive regulation of cellular catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

negative regulation of gene expression

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

regulation of cellular catabolic process [inference]

regulation of autophagy [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy

regulation of macroautophagy [inference]

positive regulation of macroautophagy

positive regulation of cellular catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy

regulation of phosphorus metabolic process [inference]

negative regulation of phosphorus metabolic process [inference]

negative regulation of phosphate metabolic process [inference]

negative regulation of dephosphorylation

negative regulation of phosphatase activity

negative regulation of phosphorylation [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

regulation of phosphate metabolic process [inference]

regulation of dephosphorylation [inference]

regulation of phosphatase activity [inference]

negative regulation of phosphatase activity

negative regulation of dephosphorylation

negative regulation of phosphatase activity

regulation of phosphorylation [inference]

regulation of protein phosphorylation [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

regulation of peptidyl-serine phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

negative regulation of phosphorylation [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

negative regulation of phosphate metabolic process [inference]

negative regulation of dephosphorylation

negative regulation of phosphatase activity

negative regulation of phosphorylation [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

regulation of nitrogen compound metabolic process [inference]

negative regulation of nitrogen compound metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of protein modification process [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

regulation of protein metabolic process [inference]

regulation of proteolysis [inference]

regulation of proteolysis involved in protein catabolic process [inference]

regulation of proteasomal protein catabolic process

regulation of protein modification process [inference]

regulation of protein phosphorylation [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

regulation of peptidyl-serine phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

negative regulation of protein modification process [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

regulation of post-translational protein modification [inference]

regulation of protein modification by small protein conjugation or removal [inference]

regulation of protein ubiquitination

regulation of protein catabolic process [inference]

regulation of proteasomal protein catabolic process

negative regulation of protein metabolic process [inference]

negative regulation of protein modification process [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

negative regulation of gene expression

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of protein metabolic process [inference]

negative regulation of protein modification process [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

regulation of protein metabolic process [inference]

regulation of proteolysis [inference]

regulation of proteolysis involved in protein catabolic process [inference]

regulation of proteasomal protein catabolic process

regulation of protein modification process [inference]

regulation of protein phosphorylation [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

regulation of peptidyl-serine phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

negative regulation of protein modification process [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

regulation of post-translational protein modification [inference]

regulation of protein modification by small protein conjugation or removal [inference]

regulation of protein ubiquitination

regulation of protein catabolic process [inference]

regulation of proteasomal protein catabolic process

negative regulation of protein metabolic process [inference]

negative regulation of protein modification process [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

regulation of primary metabolic process [inference]

regulation of protein metabolic process [inference]

regulation of proteolysis [inference]

regulation of proteolysis involved in protein catabolic process [inference]

regulation of proteasomal protein catabolic process

regulation of protein modification process [inference]

regulation of protein phosphorylation [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

regulation of peptidyl-serine phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

negative regulation of protein modification process [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

regulation of post-translational protein modification [inference]

regulation of protein modification by small protein conjugation or removal [inference]

regulation of protein ubiquitination

regulation of protein catabolic process [inference]

regulation of proteasomal protein catabolic process

negative regulation of protein metabolic process [inference]

negative regulation of protein modification process [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

regulation of signaling [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling

regulation of intracellular signal transduction [inference]

regulation of TOR signaling [inference]

negative regulation of TOR signaling

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling

regulation of localization [inference]

regulation of transport [inference]

regulation of intracellular transport [inference]

regulation of intracellular protein transport [inference]

regulation of protein import into nucleus

regulation of nucleocytoplasmic transport [inference]

regulation of protein import into nucleus

regulation of protein transport [inference]

regulation of intracellular protein transport [inference]

regulation of protein import into nucleus

regulation of cellular localization [inference]

regulation of intracellular transport [inference]

regulation of intracellular protein transport [inference]

regulation of protein import into nucleus

regulation of nucleocytoplasmic transport [inference]

regulation of protein import into nucleus

regulation of protein localization [inference]

regulation of establishment of protein localization [inference]

regulation of protein transport [inference]

regulation of intracellular protein transport [inference]

regulation of protein import into nucleus

regulation of protein localization to nucleus [inference]

regulation of protein import into nucleus

regulation of protein localization to cell periphery [inference]

regulation of protein localization to plasma membrane

regulation of protein localization to membrane [inference]

regulation of protein localization to plasma membrane

regulation of growth [inference]

regulation of cell growth

positive regulation of biological process [inference]

positive regulation of metabolic process [inference]

positive regulation of catabolic process [inference]

positive regulation of cellular catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy

positive regulation of cellular metabolic process [inference]

positive regulation of cellular catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy

positive regulation of cellular process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy

negative regulation of biological process [inference]

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of protein metabolic process [inference]

negative regulation of protein modification process [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

negative regulation of cellular metabolic process [inference]

negative regulation of phosphorus metabolic process [inference]

negative regulation of phosphate metabolic process [inference]

negative regulation of dephosphorylation

negative regulation of phosphatase activity

negative regulation of phosphorylation [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of nitrogen compound metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of protein modification process [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling

negative regulation of cellular process [inference]

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling

negative regulation of cellular metabolic process [inference]

negative regulation of phosphorus metabolic process [inference]

negative regulation of phosphate metabolic process [inference]

negative regulation of dephosphorylation

negative regulation of phosphatase activity

negative regulation of phosphorylation [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of cell cycle

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling

regulation of intracellular signal transduction [inference]

regulation of TOR signaling [inference]

negative regulation of TOR signaling

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling

regulation of cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

Wnt signaling pathway

regulation of cell communication [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling

regulation of intracellular signal transduction [inference]

regulation of TOR signaling [inference]

negative regulation of TOR signaling

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling

regulation of cellular metabolic process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of phosphorus metabolic process [inference]

negative regulation of phosphate metabolic process [inference]

negative regulation of dephosphorylation

negative regulation of phosphatase activity

negative regulation of phosphorylation [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

positive regulation of cellular metabolic process [inference]

positive regulation of cellular catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

negative regulation of gene expression

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

regulation of cellular catabolic process [inference]

regulation of autophagy [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy

regulation of macroautophagy [inference]

positive regulation of macroautophagy

positive regulation of cellular catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy

regulation of phosphorus metabolic process [inference]

negative regulation of phosphorus metabolic process [inference]

negative regulation of phosphate metabolic process [inference]

negative regulation of dephosphorylation

negative regulation of phosphatase activity

negative regulation of phosphorylation [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

regulation of phosphate metabolic process [inference]

regulation of dephosphorylation [inference]

regulation of phosphatase activity [inference]

negative regulation of phosphatase activity

negative regulation of dephosphorylation

negative regulation of phosphatase activity

regulation of phosphorylation [inference]

regulation of protein phosphorylation [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

regulation of peptidyl-serine phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

negative regulation of phosphorylation [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

negative regulation of phosphate metabolic process [inference]

negative regulation of dephosphorylation

negative regulation of phosphatase activity

negative regulation of phosphorylation [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

positive regulation of cellular process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy

negative regulation of cellular process [inference]

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling

negative regulation of cellular metabolic process [inference]

negative regulation of phosphorus metabolic process [inference]

negative regulation of phosphate metabolic process [inference]

negative regulation of dephosphorylation

negative regulation of phosphatase activity

negative regulation of phosphorylation [inference]

negative regulation of protein phosphorylation [inference]

negative regulation of peptidyl-serine phosphorylation

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of cell cycle

regulation of cellular component organization [inference]

regulation of cell growth

regulation of cell cycle [inference]

negative regulation of cell cycle

regulation of cellular localization [inference]

regulation of intracellular transport [inference]

regulation of intracellular protein transport [inference]

regulation of protein import into nucleus

regulation of nucleocytoplasmic transport [inference]

regulation of protein import into nucleus

regulation of protein localization [inference]

regulation of establishment of protein localization [inference]

regulation of protein transport [inference]

regulation of intracellular protein transport [inference]

regulation of protein import into nucleus

regulation of protein localization to nucleus [inference]

regulation of protein import into nucleus

regulation of protein localization to cell periphery [inference]

regulation of protein localization to plasma membrane

regulation of protein localization to membrane [inference]

regulation of protein localization to plasma membrane

regulation of molecular function [inference]

negative regulation of molecular function [inference]

negative regulation of catalytic activity [inference]

negative regulation of hydrolase activity [inference]

negative regulation of phosphatase activity

regulation of catalytic activity [inference]

negative regulation of catalytic activity [inference]

negative regulation of hydrolase activity [inference]

negative regulation of phosphatase activity

regulation of hydrolase activity [inference]

regulation of phosphatase activity [inference]

negative regulation of phosphatase activity

negative regulation of hydrolase activity [inference]

negative regulation of phosphatase activity

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GO Term	Evidence Code	PMID
nucleus	IEA
cytoplasmic side of rough endoplasmic reticulum membrane
cytosol
cytoplasm
dendrite

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

plasma membrane

cell projection [inference]

plasma membrane bounded cell projection [inference]

neuron projection [inference]

dendrite

perikaryon

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

side of membrane [inference]

cytoplasmic side of membrane [inference]

cytoplasmic side of endoplasmic reticulum membrane [inference]

cytoplasmic side of rough endoplasmic reticulum membrane

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GO Term	Evidence Code	PMID
phosphatase activity
glycogen (starch) synthase activity
starch binding
protein serine/threonine phosphatase activity
protein homodimerization activity

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

UDP-glycosyltransferase activity [inference]

UDP-glucosyltransferase activity [inference]

glycogen (starch) synthase activity

hexosyltransferase activity [inference]

glucosyltransferase activity [inference]

UDP-glucosyltransferase activity [inference]

glycogen (starch) synthase activity

hydrolase activity [inference]

hydrolase activity, acting on ester bonds [inference]

phosphoric ester hydrolase activity [inference]

phosphatase activity

phosphoprotein phosphatase activity [inference]

protein serine/threonine phosphatase activity

myosin phosphatase activity

carbohydrate phosphatase activity

catalytic activity, acting on a protein [inference]

phosphoprotein phosphatase activity [inference]

protein serine/threonine phosphatase activity

myosin phosphatase activity

binding [inference]

protein binding

identical protein binding [inference]

protein homodimerization activity

protein dimerization activity

protein homodimerization activity

carbohydrate binding

polysaccharide binding [inference]

Gene Ontology information from NCBI Gene and UniProt.

Rhea

H₂O

phosphate

Enzyme

3.1.3.16

PMID

H₂O

phosphate

Enzyme

3.1.3.48

PMID

H₂O

phosphate

Enzyme

3.1.3.16

PMID

Disease

Disease Ontology

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DO ID	Disease Name	Source
DOID:0050776	non-syndromic X-linked intellectual disability	DisGeNET
DOID:0050841	focal hand dystonia	DisGeNET
DOID:0060058	lymphoma	DisGeNET DisGeNET
DOID:0060135	apraxia	DisGeNET
DOID:0060162	dentatorubral-pallidoluysian atrophy	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060171	obsolete Dravet syndrome	DisGeNET
DOID:0060215	Balo concentric sclerosis	DisGeNET
DOID:0060281	photosensitive epilepsy	DisGeNET
DOID:0080422	Dravet syndrome	DisGeNET
DOID:0110720	neuronal ceroid lipofuscinosis 4	DisGeNET

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0003678	Rapidly progressive
HP:0007270	Atypical absence seizure
HP:0007334	Bilateral tonic-clonic seizure with focal onset
HP:0007359	Focal-onset seizure
HP:0007537	Severe photosensitivity
HP:0010819	Atonic seizure
HP:0011165	Focal sensory seizure with visual features
HP:0012444	Brain atrophy
HP:0100318	Lafora bodies

Displaying **all 2** entries
Disease ID	Disease Name
ORPHA:501	Lafora disease
OMIM:254780	myoclonic epilepsy of Lafora 1

PubChem Disease

GHR Health Conditions

Lafora progressive myoclonus epilepsy

MedGen Diseases

Lafora disease

OMIM Phenotypes

MYOCLONIC EPILEPSY OF LAFORA 1; MELF1

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Oreochromis niloticus	100700921		ORENI19149
Haplochromis burtoni	102313696		HAPBU02123
Astatotilapia calliptera	113006867		ASTCA10530
Sparus aurata	115574001		SPAAU62320
Xenopus laevis	444115	Xenbase:XB-GENE-965656
Xenopus tropicalis	100170449	Xenbase:XB-GENE-965638
Chrysemys picta bellii	101939759		CHRPI34328
Crocodylus porosus	109320144		CROPO06062
Serinus canaria	103818456		SERCA13957
Ornithorhynchus anatinus	100075437		ORNAN16839

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Last updated: August 19, 2024