Mus musculus Protein: Epm2a
Summary
InnateDB Protein IDBP-133618.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Epm2a
Protein Name epilepsy, progressive myoclonic epilepsy, type 2 gene alpha
Synonyms TG-B; Tg(TcraK,TcrbK)TG-BFlv;
Species Mus musculus
Ensembl Protein ENSMUSP00000066050
InnateDB Gene IDBG-133616 (Epm2a)
Protein Structure
UniProt Annotation
Function Has been shown to have both dual-specificity protein phosphatase and glucan phosphatase activities and, together with the E3 ubiquitin ligase NHLRC1/malin, appears to be involved in the clearance of toxic polyglucosan and protein aggregates via multiple pathways. Dephosphorylates phosphotyrosine, phosphoserine and phosphothreonine substrates in vitro. Has also been shown to dephosphorylate MAPT. Shows strong phosphatase activity towards complex carbohydrates in vitro, avoiding glycogen hyperphosphorylation which is associated with reduced branching and formation of insoluble aggregates. Forms a complex with NHLRC1/malin and HSP70, which suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Acts as a scaffold protein to facilitate PPP1R3C/PTG ubiquitination by NHLRC1/malin. Also promotes proteasome-independent protein degradation through the macroautophagy pathway. {ECO:0000269PubMed:18040046, ECO:0000269PubMed:18852261, ECO:0000269PubMed:19036738, ECO:0000269PubMed:19542233, ECO:0000269PubMed:20453062, ECO:0000269PubMed:22669944}.
Subcellular Localization Cytoplasm {ECO:0000269PubMed:15102711}. Endoplasmic reticulum {ECO:0000269PubMed:15102711}. Note=Under glycogenolytic conditions localizes to the nucleus. {ECO:0000250}.
Disease Associations
Tissue Specificity Widely expressed. Higher levels of expression are found in heart, brain, liver, skeletal muscle and kidney. Found in neuronal dendrites and perikarya, but not in axons. {ECO:0000269PubMed:10092504, ECO:0000269PubMed:15102711}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 14 interaction(s) predicted by orthology.
Experimentally validated
Total 11 [view]
Protein-Protein 11 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 14 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004439 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
GO:0004725 protein tyrosine phosphatase activity
GO:0005515 protein binding
GO:0008138 protein tyrosine/serine/threonine phosphatase activity
GO:0016791 phosphatase activity
GO:0019203 carbohydrate phosphatase activity
GO:0030246 carbohydrate binding
GO:2001070 starch binding
Biological Process
GO:0005977 glycogen metabolic process
GO:0006470 protein dephosphorylation
GO:0006914 autophagy
GO:0007399 nervous system development
GO:0016311 dephosphorylation
GO:0035335 peptidyl-tyrosine dephosphorylation
GO:0046855 inositol phosphate dephosphorylation
GO:0046959 habituation
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0005844 polysome
Protein Structure and Domains
PDB ID MGI:1341085
InterPro IPR000340 Dual specificity phosphatase, catalytic domain
IPR000387 Protein-tyrosine/Dual specificity phosphatase
IPR002044 Carbohydrate binding module family 20
IPR013784 Carbohydrate-binding-like fold
IPR020422 Dual specificity phosphatase, subgroup, catalytic domain
IPR029021 Protein-tyrosine phosphatase-like
PFAM PF00782
PF00686
PRINTS
PIRSF
SMART SM01065
SM00195
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9WUA5
PhosphoSite PhosphoSite-
TrEMBL
UniProt Splice Variant
Entrez Gene 13853
UniGene Mm.383693
RefSeq NP_034276
MGI ID
MGI Symbol Epm2a
OMIM
CCDS CCDS23698
HPRD
IMGT
EMBL AC101984 AC157018 AF124044 AK041609 CH466562
GenPept AAD26336 BAC31004 EDL03516