Mus musculus Protein: Epm2a | |||||||||||||||||||||||
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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.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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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 |
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PFAM |
PF00782
PF00686 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM01065
SM00195 |
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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 | ||||||||||||||||||||||