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EPM2A glucan phosphatase, laforin

Summary

Gene Symbol

EPM2A

Aliases

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 entries **21 - 25** of 26 in total

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GO Term	Evidence Code	PMID
glycogen biosynthetic process
positive regulation of macroautophagy	IMP	20453062
mitochondrion organization
negative regulation of gene expression
regulation of protein import into nucleus

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

RHEA:47004

H₂O

phosphate

Enzyme

3.1.3.16

PMID

RHEA:10684

H₂O

phosphate

Enzyme

3.1.3.48

PMID

RHEA:20629

H₂O

phosphate

Enzyme

3.1.3.16

PMID

Disease

Disease Ontology

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DO ID	Disease Name	Source
DOID:0110721	neuronal ceroid lipofuscinosis 1	DisGeNET
DOID:0110722	neuronal ceroid lipofuscinosis 7	DisGeNET
DOID:0110723	neuronal ceroid lipofuscinosis 8	DisGeNET
DOID:0110724	neuronal ceroid lipofuscinosis 8 northern epilepsy variant	DisGeNET
DOID:0110725	neuronal ceroid lipofuscinosis 10	DisGeNET
DOID:0110726	neuronal ceroid lipofuscinosis 2	DisGeNET
DOID:0110727	neuronal ceroid lipofuscinosis 13	DisGeNET
DOID:0110728	neuronal ceroid lipofuscinosis 5	DisGeNET
DOID:0110729	neuronal ceroid lipofuscinosis 6A	DisGeNET
DOID:0110730	neuronal ceroid lipofuscinosis 6B	DisGeNET

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0001260	Dysarthria
HP:0001268	Mental deterioration
HP:0001288	Gait disturbance
HP:0001289	Confusion
HP:0001312	Giant somatosensory evoked potentials
HP:0001336	Myoclonus
HP:0001399	Hepatic failure
HP:0002069	Bilateral tonic-clonic seizure
HP:0002100	Recurrent aspiration pneumonia
HP:0002121	Generalized non-motor (absence) seizure

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
Callorhinchus milii	103191235		CALMI45213
Danio rerio	100535304	ZFIN:ZDB-GENE-100922-143	DANRE24905
Astyanax mexicanus	103043247		ASTMX01950
Ictalurus punctatus	108275481		ICTPU07342
Electrophorus electricus	113570324		ELEEL04801
Esox lucius	105029902		ESOLU53564
Salmo salar	106608000		SALSA131453
Salmo trutta	115179967		SALTR25985
Gadus morhua	115534459		GADMO32158
Oryzias latipes	101165611		ORYLA11562

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

PubChem Disease

International Collaboration

Acknowledgements