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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes Human disease related genes Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
6
Cytoband
q24.3
Chromosome location (bp)
145382535 - 145736023
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Plays an important role in preventing glycogen hyperphosphorylation and the formation of insoluble aggregates, via its activity as glycogen phosphatase, and by promoting the ubiquitination of proteins involved in glycogen metabolism via its interaction with the E3 ubiquitin ligase NHLRC1/malin. Shows strong phosphatase activity towards complex carbohydrates in vitro, avoiding glycogen hyperphosphorylation which is associated with reduced branching and formation of insoluble aggregates 1,2,3,4,5. Dephosphorylates phosphotyrosine and synthetic substrates, such as para-nitrophenylphosphate (pNPP), and has low activity with phosphoserine and phosphothreonine substrates (in vitro) 6,7,8,9,10,11,12,13,14. Has been shown to dephosphorylate MAPT (By similarity). 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 15. Also promotes proteasome-independent protein degradation through the macroautophagy pathway 16....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Hydrolase, Protein phosphatase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Hydrolases SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000045[autophagosome assembly] GO:0001558[regulation of cell growth] GO:0001932[regulation of protein phosphorylation] GO:0004373[glycogen (starch) synthase activity] GO:0004721[phosphoprotein phosphatase activity] GO:0004722[protein serine/threonine phosphatase activity] GO:0004725[protein tyrosine phosphatase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005829[cytosol] GO:0005844[polysome] GO:0005886[plasma membrane] GO:0005975[carbohydrate metabolic process] GO:0005977[glycogen metabolic process] GO:0005978[glycogen biosynthetic process] GO:0006073[cellular glucan metabolic process] GO:0006470[protein dephosphorylation] GO:0006816[calcium ion transport] GO:0006914[autophagy] GO:0007005[mitochondrion organization] GO:0007399[nervous system development] GO:0008138[protein tyrosine/serine/threonine phosphatase activity] GO:0010468[regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0014009[glial cell proliferation] GO:0015813[L-glutamate transmembrane transport] GO:0016020[membrane] GO:0016055[Wnt signaling pathway] GO:0016239[positive regulation of macroautophagy] GO:0016311[dephosphorylation] GO:0016787[hydrolase activity] GO:0016791[phosphatase activity] GO:0017018[myosin phosphatase activity] GO:0019203[carbohydrate phosphatase activity] GO:0030246[carbohydrate binding] GO:0030247[polysaccharide binding] GO:0030425[dendrite] GO:0031396[regulation of protein ubiquitination] GO:0033137[negative regulation of peptidyl-serine phosphorylation] GO:0035335[peptidyl-tyrosine dephosphorylation] GO:0042306[regulation of protein import into nucleus] GO:0042325[regulation of phosphorylation] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0043204[perikaryon] GO:0043231[intracellular membrane-bounded organelle] GO:0044260[cellular macromolecule metabolic process] GO:0045786[negative regulation of cell cycle] GO:0045859[regulation of protein kinase activity] GO:0046835[carbohydrate phosphorylation] GO:0046838[phosphorylated carbohydrate dephosphorylation] GO:0046959[habituation] GO:0061136[regulation of proteasomal protein catabolic process] GO:0098554[cytoplasmic side of endoplasmic reticulum membrane] GO:0098556[cytoplasmic side of rough endoplasmic reticulum membrane] GO:1903076[regulation of protein localization to plasma membrane] GO:1904666[regulation of ubiquitin protein ligase activity] GO:2000465[regulation of glycogen (starch) synthase activity] GO:2001069[glycogen binding] GO:2001070[starch binding]
Enzymes ENZYME proteins Hydrolases SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Hydrolases SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
