Epilepsy, progressive myoclonic epilepsy, type 2 gene alpha (Q21981353)

Immunoglobulin-like fold

1 reference

Protein-tyrosine phosphatase-like

1 reference

membrane protein

1 reference

inferred from GOA cell component → membrane

Tyrosine specific protein phosphatases domain, protein family

1 reference

Laforin, CBM20 domain, protein family

1 reference

Dual specificity phosphatase

1 reference

Dual specificity protein phosphatase domain, protein family

1 reference

Carbohydrate binding module family 20

1 reference

Protein-tyrosine phosphatase, active site, protein family

1 reference

phosphoprotein phosphatase activity

1 reference

25 May 2022

1 reference

25 May 2022

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

1 reference

10 September 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9WUA5&geneProductId=UniProtKB:Q9WUA5

3 references

8 April 2019

Loss of laforin or malin results in increased Drp1 level and concomitant mitochondrial fragmentation in Lafora disease mouse models.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

Epm2a suppresses tumor growth in an immunocompromised host by inhibiting Wnt signaling

IntAct protein interaction database

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

Laforin is required for the functional activation of malin in endoplasmic reticulum stress resistance in neuronal cells

IntAct protein interaction database

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

1 reference

10 September 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9WUA5&geneProductId=UniProtKB:Q9WUA5

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

protein tyrosine phosphatase activity

5 references

27 March 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9WUA5&geneProductId=UniProtKB:Q9WUA5

27 March 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9WUA5&geneProductId=UniProtKB:Q9WUA5

27 March 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9WUA5&geneProductId=UniProtKB:Q9WUA5

27 March 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9WUA5&geneProductId=UniProtKB:Q9WUA5

27 March 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9WUA5&geneProductId=UniProtKB:Q9WUA5

carbohydrate phosphatase activity

4 references

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

protein dimerization activity

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

protein tyrosine phosphatase activity

6 references

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

carbohydrate phosphatase activity

IBA

5 references

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy

polysaccharide binding

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

protein serine/threonine phosphatase activity

3 references

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

Dimerization of Laforin is required for its optimal phosphatase activity, regulation of GSK3beta phosphorylation, and Wnt signaling

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

cell component

endoplasmic reticulum

1 reference

8 April 2019

5 references

27 March 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9WUA5&geneProductId=UniProtKB:Q9WUA5

27 March 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9WUA5&geneProductId=UniProtKB:Q9WUA5

27 March 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9WUA5&geneProductId=UniProtKB:Q9WUA5

27 March 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9WUA5&geneProductId=UniProtKB:Q9WUA5

27 March 2018

A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9WUA5&geneProductId=UniProtKB:Q9WUA5

cytoplasmic side of rough endoplasmic reticulum membrane

endoplasmic reticulum membrane

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

3 references

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

6 references

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

1 reference

8 April 2019

Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

1 reference

8 April 2019

Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

cytoplasmic side of endoplasmic reticulum membrane

1 reference

8 April 2019

Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

nervous system development

biological process

1 reference

8 April 2019

Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

1 reference

10 September 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9WUA5&geneProductId=UniProtKB:Q9WUA5

negative regulation of TOR signaling

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

positive regulation of macroautophagy

3 references

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

Laforin, the most common protein mutated in Lafora disease, regulates autophagy

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

Laforin, the most common protein mutated in Lafora disease, regulates autophagy

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

1 reference

8 April 2019

Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

glycogen metabolic process

4 references

10 September 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9WUA5&geneProductId=UniProtKB:Q9WUA5

10 September 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9WUA5&geneProductId=UniProtKB:Q9WUA5

10 September 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9WUA5&geneProductId=UniProtKB:Q9WUA5

10 September 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9WUA5&geneProductId=UniProtKB:Q9WUA5

negative regulation of phosphatase activity

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

negative regulation of dephosphorylation

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

phosphorylated carbohydrate dephosphorylation

carbohydrate metabolic process

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

The phosphatase activity of laforin is dispensable to rescue Epm2a-/- mice from Lafora disease

autophagosome assembly

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

regulation of cell growth

1 reference

8 April 2019

Laforin negatively regulates cell cycle progression through glycogen synthase kinase 3beta-dependent mechanisms.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

glycogen metabolic process

9 references

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

Protein degradation and quality control in cells from laforin and malin knockout mice

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

Hyperphosphorylation of glucosyl C6 carbons and altered structure of glycogen in the neurodegenerative epilepsy Lafora disease.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

Glycogen phosphomonoester distribution in mouse models of the progressive myoclonic epilepsy, Lafora disease

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

Suppression of leptin signaling reduces polyglucosan inclusions and seizure susceptibility in a mouse model for Lafora disease.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

Loss of laforin or malin results in increased Drp1 level and concomitant mitochondrial fragmentation in Lafora disease mouse models.

calcium ion transport

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

mitochondrion organization

1 reference

8 April 2019

Loss of laforin or malin results in increased Drp1 level and concomitant mitochondrial fragmentation in Lafora disease mouse models.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

regulation of gene expression

3 references

8 April 2019

FoxO3a-mediated autophagy is down-regulated in the laforin deficient mice, an animal model for Lafora progressive myoclonus epilepsy.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

Protein degradation and quality control in cells from laforin and malin knockout mice

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

8 April 2019

Loss of laforin or malin results in increased Drp1 level and concomitant mitochondrial fragmentation in Lafora disease mouse models.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

negative regulation of gene expression

1 reference

8 April 2019

Laforin negatively regulates cell cycle progression through glycogen synthase kinase 3beta-dependent mechanisms.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

Suppression of leptin signaling reduces polyglucosan inclusions and seizure susceptibility in a mouse model for Lafora disease.

glial cell proliferation

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

L-glutamate transmembrane transport

IGI

1 reference

8 April 2019

Homeostasis of the astrocytic glutamate transporter GLT-1 is altered in mouse models of Lafora disease

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

regulation of protein ubiquitination

1 reference

8 April 2019

Homeostasis of the astrocytic glutamate transporter GLT-1 is altered in mouse models of Lafora disease

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

negative regulation of peptidyl-serine phosphorylation

IGI

1 reference

8 April 2019

Laforin negatively regulates cell cycle progression through glycogen synthase kinase 3beta-dependent mechanisms.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

regulation of phosphorylation

1 reference

8 April 2019

Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

proteasome-mediated ubiquitin-dependent protein catabolic process

1 reference

8 April 2019

Protein degradation and quality control in cells from laforin and malin knockout mice

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

cellular macromolecule metabolic process

1 reference

8 April 2019

Hyperphosphorylation of glucosyl C6 carbons and altered structure of glycogen in the neurodegenerative epilepsy Lafora disease.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

negative regulation of cell cycle

1 reference

8 April 2019

Laforin negatively regulates cell cycle progression through glycogen synthase kinase 3beta-dependent mechanisms.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

regulation of protein kinase activity

1 reference

8 April 2019

Protein degradation and quality control in cells from laforin and malin knockout mice

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

regulation of proteasomal protein catabolic process

1 reference

8 April 2019

FoxO3a-mediated autophagy is down-regulated in the laforin deficient mice, an animal model for Lafora progressive myoclonus epilepsy.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

regulation of protein localization to plasma membrane

1 reference

8 April 2019

Homeostasis of the astrocytic glutamate transporter GLT-1 is altered in mouse models of Lafora disease

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

regulation of ubiquitin protein ligase activity

IGI

1 reference

8 April 2019

Loss of laforin or malin results in increased Drp1 level and concomitant mitochondrial fragmentation in Lafora disease mouse models.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

regulation of glycogen (starch) synthase activity

1 reference

8 April 2019

Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

Dimerization of Laforin is required for its optimal phosphatase activity, regulation of GSK3beta phosphorylation, and Wnt signaling

Wnt signaling pathway

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

regulation of protein import into nucleus

1 reference

8 April 2019

Dimerization of Laforin is required for its optimal phosphatase activity, regulation of GSK3beta phosphorylation, and Wnt signaling

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

protein homooligomerization

1 reference

8 April 2019

Dimerization of Laforin is required for its optimal phosphatase activity, regulation of GSK3beta phosphorylation, and Wnt signaling

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5

Dual specificity protein phosphatase domain

has part(s)

1 reference

Protein-tyrosine phosphatase, active site

1 reference

Carbohydrate binding module family 20

1 reference

Tyrosine specific protein phosphatases domain

1 reference

Laforin, CBM20 domain

1 reference