{ "uniprot_canonical_ac": "A2RRU1-1", "ptm_annotation": [ { "annotation": "Phosphorylation at Ser-8 by AMPK inactivates the enzyme activity. Primed phosphorylation at Ser-657 (site 5) by CSNK2A1 and CSNK2A2 is required for inhibitory phosphorylation at Ser-641 (site 3a), Ser-645 (site 3b), Ser-649 (site 3c) and Ser-653 (site 4) by GSK3A an GSK3B. Phosphorylated at Ser-641 by PASK, leading to inactivation; phosphorylation by PASK is inhibited by glycogen. Phosphorylated at Ser-641 by DYRK2, leading to inactivation. Dephosphorylation at Ser-641 and Ser-645 by PP1 activates the enzyme (By similarity).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/", "id": "", "database": "PubMed" } ] } ], "sequence": { "header": "sp|A2RRU1-1|GYS1_RAT Isoform 1 of Glycogen [starch] synthase, muscle OS=Rattus norvegicus OX=10116 GN=Gys1 PE=1 SV=1 CANONICAL=A2RRU1-1", "length": 738, "sequence": "MPLSRSLSMSSLPGLEDWEDEFDPENAVLFEVAWEVANKVGGIYTVLQTKAKVTGDEWGDNYYLVGPYTEQGVRTQVELLEPPTPELKRTLDSMNSKGCKVYFGRWLIEGGPLVVLLDVGASAWALERWKGELWDTCNIGVPWYDREANDAVLFGFLTTWFLGEFLAQNEEKPYVVAHFHEWLAGVGLCLCRARRLPVATIFTTHATLLGRYLCAGAVDFYNNLENFNVDKEAGERQIYHRYCMERAAAHCAHVFTTVSQITAIEAQHLLKRKPDIVTPNGLNVKKFSAMHEFQNLHAQSKARIQEFVRGHFYGHLDFNLDKTLYFFIAGRYEFSNKGADIFLEALARLNYLLRVNGSEQTVVAFFIMPARTNNFNVETLKGQAVRKQLWDTANTVKEKFGRKLYESLLVGSLPDMNKMLDKEDFTMMKRAIFATQRQSFPPVCTHNMLDDSSDPILTTIRRIGLFNSSADRVKVIFHPEFLSSTSPLLPVDYEEFVRGCHLGVFPSYYEPWGYTPAECTVMGIPSISTNLSGFGCFMEEHIADPSAYGIYILDRRFRSLDDSCSQLTSFLYSFCQQSRRQRIIQRNRTERLSDLLDWKYLGRYYMSARHMALAKAFPDHFTYEPHEVDATQGYRYPRPASVPPSPSLSRHSSPHQSEDEEEPRDGPLREDSERYDEEEEAAKDRRNIRAPEWPRRASCSSSTGGSKRSNSVDTGPSSSLSTPTEPLSPTSSLGEERN" }, "uniprot_id": "GYS1_RAT", "enzyme_annotation": [ { "ec": "2.4.1.11", "activity": "" }, { "ec": "2.4.1.11", "activity": "UDP-alpha-D-glucose + ((1->4)-alpha-D-glucosyl)(n) = UDP + ((1->4)-alpha-D-glucosyl)(n+1)." } ], "glycation": [], "keywords": [ "enzyme", "glycosyltransferase-activity" ], "species": [ { "common_name": "Rat", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "name": "Rattus norvegicus", "taxid": 10116 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19432592", "type": [ "PubMed" ], "id": "19432592" } ], "title": "Glycogen content regulates insulin- but not contraction-mediated glycogen synthase activation in the rat slow-twitch soleus muscles.", "journal": "Acta physiologica (Oxford, England)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103085.1", "id": "NP_001103085.1", "database": "RefSeq" } ], "authors": "Lai YC, Lin FC, Jensen J", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19699667", "type": [ "PubMed" ], "id": "19699667" } ], "title": "Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts.", "journal": "Molecular genetics and metabolism", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103085.1", "id": "NP_001103085.1", "database": "RefSeq" } ], "authors": "Cameron JM, Levandovskiy V, MacKay N, Utgikar R, Ackerley C, Chiasson D, Halliday W, Raiman J, Robinson BH", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20597590", "type": [ "PubMed" ], "id": "20597590" } ], "title": "Insulin-stimulated glycogen synthesis and glycogen synthase activation after electrical stimulation of epitrochlearis muscles with different initial glycogen contents.", "journal": "Archives of physiology and biochemistry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103085.1", "id": "NP_001103085.1", "database": "RefSeq" } ], "authors": "Lai YC, Stuenaes JT, Kuo CH, Jensen J", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21356517", "type": [ "PubMed" ], "id": "21356517" } ], "title": "Phosphate incorporation during glycogen synthesis and Lafora disease.", "journal": "Cell metabolism", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103085.1", "id": "NP_001103085.1", "database": "RefSeq" } ], "authors": "Tagliabracci VS, Heiss C, Karthik C, Contreras CJ, Glushka J, Ishihara M, Azadi P, Hurley TD, DePaoli-Roach AA, Roach PJ", "date": "2011" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22673903", "type": [ "PubMed" ], "id": "22673903" } ], "title": "Quantitative maps of protein phosphorylation sites across 14 different rat organs and tissues.", "journal": "Nat. Commun.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "authors": "Olsen J.V., Lage K., Secher A., Dmytriyev A., Lundby A., Lundby C., Nordsborg N.B.", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/6244274", "type": [ "PubMed" ], "id": "6244274" } ], "title": "Epinephrine regulation of skeletal muscle glycogen metabolism. Studies utilizing the perfused rat hindlimb preparation.", "journal": "The Journal of biological chemistry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103085.1", "id": "NP_001103085.1", "database": "RefSeq" } ], "authors": "Dietz MR, Chiasson JL, Soderling TR, Exton JH", "date": "1980" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/8224611", "type": [ "PubMed" ], "id": "8224611" } ], "title": "Glycogen synthesis in the astrocyte: from glycogenin to proglycogen to glycogen.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103085.1", "id": "NP_001103085.1", "database": "RefSeq" } ], "authors": "Lomako J, Lomako WM, Whelan WJ, Dombro RS, Neary JT, Norenberg MD", "date": "1993" } ], "uniprot_ac": "A2RRU1", "site_annotation": [ { "end_pos": 358, "annotation": "n_glycosylation_sequon", "start_pos": 356 }, { "end_pos": 469, "annotation": "n_glycosylation_sequon", "start_pos": 467 }, { "end_pos": 532, "annotation": "n_glycosylation_sequon", "start_pos": 530 }, { "end_pos": 589, "annotation": "n_glycosylation_sequon", "start_pos": 587 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1#A2RRU1-1", "isoform_ac": "A2RRU1-1", "locus": { "end_pos": 101427410, "strand": "-", "start_pos": 101445830, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOT00000028271", "id": "ENSRNOT00000028271", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSRNOP00000028271", "id": "ENSRNOP00000028271", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2RRU1-1|GYS1_RAT Isoform 1 of Glycogen [starch] synthase, muscle OS=Rattus norvegicus OX=10116 GN=Gys1 PE=1 SV=1 CANONICAL=A2RRU1-1", "length": 738, "sequence": "MPLSRSLSMSSLPGLEDWEDEFDPENAVLFEVAWEVANKVGGIYTVLQTKAKVTGDEWGDNYYLVGPYTEQGVRTQVELLEPPTPELKRTLDSMNSKGCKVYFGRWLIEGGPLVVLLDVGASAWALERWKGELWDTCNIGVPWYDREANDAVLFGFLTTWFLGEFLAQNEEKPYVVAHFHEWLAGVGLCLCRARRLPVATIFTTHATLLGRYLCAGAVDFYNNLENFNVDKEAGERQIYHRYCMERAAAHCAHVFTTVSQITAIEAQHLLKRKPDIVTPNGLNVKKFSAMHEFQNLHAQSKARIQEFVRGHFYGHLDFNLDKTLYFFIAGRYEFSNKGADIFLEALARLNYLLRVNGSEQTVVAFFIMPARTNNFNVETLKGQAVRKQLWDTANTVKEKFGRKLYESLLVGSLPDMNKMLDKEDFTMMKRAIFATQRQSFPPVCTHNMLDDSSDPILTTIRRIGLFNSSADRVKVIFHPEFLSSTSPLLPVDYEEFVRGCHLGVFPSYYEPWGYTPAECTVMGIPSISTNLSGFGCFMEEHIADPSAYGIYILDRRFRSLDDSCSQLTSFLYSFCQQSRRQRIIQRNRTERLSDLLDWKYLGRYYMSARHMALAKAFPDHFTYEPHEVDATQGYRYPRPASVPPSPSLSRHSSPHQSEDEEEPRDGPLREDSERYDEEEEAAKDRRNIRAPEWPRRASCSSSTGGSKRSNSVDTGPSSSLSTPTEPLSPTSSLGEERN" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:690987", "resource": "KEGG Pathway", "id": "rno:690987", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-3322077", "resource": "Reactome", "id": "R-RNO-3322077", "name": "Glycogen synthesis" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103085.1", "annotation": "After contraction insulin-stimulated glycogen synthesis was increased by rather similar magnitude at all glycogen contents in concert with increased glycogen synthase activation.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103085.1", "id": "NP_001103085.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103085.1", "annotation": "After contraction, glycogen synthase (GS) was increased to similar levels in muscles with low, normal and high glycogen content; rate of glycogen synthesis after contraction was also similar; insulin increased GS activation at all glycogen contents.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103085.1", "id": "NP_001103085.1", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A2RRU1#function", "annotation": "Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1#function", "id": "A2RRU1", "database": "UniProtKB" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "P13807-1", "protein_name": "Glycogen [starch] synthase, muscle", "sequence": { "length": 737, "sequence": "MPLNRTLSMSSLPGLEDWEDEFDLENAVLFEVAWEVANKVGGIYTVLQTKAKVTGDEWGDNYFLVGPYTEQGVRTQVELLEAPTPALKRTLDSMNSKGCKVYFGRWLIEGGPLVVLLDVGASAWALERWKGELWDTCNIGVPWYDREANDAVLFGFLTTWFLGEFLAQSEEKPHVVAHFHEWLAGVGLCLCRARRLPVATIFTTHATLLGRYLCAGAVDFYNNLENFNVDKEAGERQIYHRYCMERAAAHCAHVFTTVSQITAIEAQHLLKRKPDIVTPNGLNVKKFSAMHEFQNLHAQSKARIQEFVRGHFYGHLDFNLDKTLYFFIAGRYEFSNKGADVFLEALARLNYLLRVNGSEQTVVAFFIMPARTNNFNVETLKGQAVRKQLWDTANTVKEKFGRKLYESLLVGSLPDMNKMLDKEDFTMMKRAIFATQRQSFPPVCTHNMLDDSSDPILTTIRRIGLFNSSADRVKVIFHPEFLSSTSPLLPVDYEEFVRGCHLGVFPSYYEPWGYTPAECTVMGIPSISTNLSGFGCFMEEHIADPSAYGIYILDRRFRSLDDSCSQLTSFLYSFCQQSRRQRIIQRNRTERLSDLLDWKYLGRYYMSARHMALSKAFPEHFTYEPNEADAAQGYRYPRPASVPPSPSLSRHSSPHQSEDEEDPRNGPLEEDGERYDEDEEAAKDRRNIRAPEWPRRASCTSSTSGSKRNSVDTATSSSLSTPSEPLSPTSSLGEERN" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2RRU1/", "id": "A2RRU1", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/113557", "id": "113557", "database": "MGI" } ], "common_name": "Human", "organism": "Homo sapiens", "gene_name": "GYS1", "tax_id": 9606 }, { "uniprot_canonical_ac": "Q9Z1E4-1", "protein_name": "Glycogen [starch] synthase, muscle", "sequence": { "length": 738, "sequence": "MPLSRSLSVSSLPGLEDWEDEFDPENAVLFEVAWEVANKVGGIYTVLQTKAKVTGDEWGDNYYLVGPYTEQGVRTQVELLEPPTPELKRTLDSMNSKGCKVYFGRWLIEGGPLVVLLDVGASAWALERWKGELWDTCNIGVPWYDREANDAVLFGFLTTWFLGEFLAQNEEKPYVVAHFHEWLAGVGLCLCRARRLPVATIFTTHATLLGRYLCAGAVDFYNNLENFNVDKEAGERQIYHRYCMERAAAHCAHVFTTVSQITAIEAQHLLKRKPDIVTPNGLNVKKFSAMHEFQNLHAQSKARIQEFVRGHFYGHLDFNLDKTLYFFIAGRYEFSNKGADVFLEALARLNYLLRVNGSEQTVVAFFIMPARTNNFNVETLKGQAVRKQLWDTANTVKEKFGRKLYESLLVGSLPDMNKMLDKEDFTMMKRAIFATQRQSFPPVCTHNMLDDSSDPILTTIRRIGLFNSSADRVKVIFHPEFLSSTSPLLPVDYEEFVRGCHLGVFPSYYEPWGYTPAECTVMGIPSISTNLSGFGCFMEEHIADPSAYGIYILDRRFRSLDDSCSQLTSFLYSFCQQSRRQRIIQRNRTERLSDLLDWKYLGRYYMSARHMALAKAFPDHFTYEPHEVDATQGYRYPRPASVPPSPSLSRHSSPHQSEDEEEPRDGPLGEDSERYDEEEEAAKDRRNIRAPEWPRRASCSSSTGGSKRSNSVDTGPSSSLSTPTEPLSPTSSLGEERN" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2RRU1/", "id": "A2RRU1", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/113557", "id": "113557", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Gys1", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103085.1", "ac": "NP_001103085.1", "name": "glycogen [starch] synthase, muscle", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004373", "pmid": "6244274", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "name": "glycogen (starch) synthase activity", "id": "GO:0004373" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004373", "pmid": "10572943", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "name": "glycogen (starch) synthase activity", "id": "GO:0004373" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004373", "pmid": "7671134", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "name": "glycogen (starch) synthase activity", "id": "GO:0004373" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004373", "pmid": "6449198", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "name": "glycogen (starch) synthase activity", "id": "GO:0004373" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004373", "pmid": "8224611", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "name": "glycogen (starch) synthase activity", "id": "GO:0004373" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005536", "pmid": "6244274", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "name": "glucose binding", "id": "GO:0005536" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005536", "pmid": "7671134", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "name": "glucose binding", "id": "GO:0005536" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "name": "protein kinase binding", "id": "GO:0019901" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061547", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "name": "glycogen synthase activity, transferring glucose-1-phosphate", "id": "GO:0061547" } ], "total": 9, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "name": "cytoplasm", "id": "GO:0005737" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016234", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "name": "inclusion body", "id": "GO:0016234" } ], "total": 2, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005977", "pmid": "6244274", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "name": "glycogen metabolic process", "id": "GO:0005977" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005977", "pmid": "10572943", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "name": "glycogen metabolic process", "id": "GO:0005977" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005978", "pmid": "7671134", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "name": "glycogen biosynthetic process", "id": "GO:0005978" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005978", "pmid": "6449198", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "name": "glycogen biosynthetic process", "id": "GO:0005978" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "name": "heart development", "id": "GO:0007507" } ], "total": 5, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RRU1", "type": "synonym", "resource": "RefSeq", "name": "Gys1" }, { "url": "https://www.uniprot.org/uniprot/A2RRU1", "type": "recommended", "resource": "UniProtKB", "name": "Gys1" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000020812", "id": "ENSRNOG00000020812", "database": "Bgee" }, { "url": "http://www.cazy.org/fam/GT3.html", "id": "GT3", "database": "CAZy" }, { "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd03793", "id": "cd03793", "database": "CDD" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/690987", "id": "690987", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A2RRU1*", "id": "A2RRU1", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR008631", "id": "IPR008631", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:690987", "id": "rno:690987", "database": "KEGG Pathway" }, { "url": "https://omabrowser.org/oma/group/VFHPDFL/", "id": "VFHPDFL", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=264593at2759", "id": "264593at2759", "database": "OrthoDB" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10176", "id": "PTHR10176", "database": "PANTHER" }, { "url": "http://pfam.xfam.org/family/PF05693", "id": "PF05693", "database": "Pfam" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A2RRU1", "id": "PR_A2RRU1", "database": "PRO" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-3322077", "id": "R-RNO-3322077", "database": "Reactome" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103085.1", "id": "NP_001103085.1", "database": "RefSeq" }, { "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1589798", "id": "1589798", "database": "RGD" }, { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [], "disease": [ { "synonyms": [ { "id": "DOID:1287", "url": "http://disease-ontology.org/term/DOID:1287", "resource": "Disease Ontology", "name": "disease of subdivision of hemolymphoid system", "description": "" } ], "recommended_name": { "id": "DOID:1287", "url": "http://disease-ontology.org/term/DOID:1287", "resource": "Disease Ontology", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/1287#disease-associations", "id": "1287", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "MONDO:0009697", "url": "https://monarchinitiative.org/disease/MONDO:0009697", "resource": "MONDO", "name": "Lafora progressive myoclonic epilepsy", "description": "" }, { "id": "MONDO:0009697", "url": "https://monarchinitiative.org/disease/MONDO:0009697", "resource": "MONDO", "name": "progressive myoclonic epilepsy type 2", "description": "" }, { "id": "MONDO:0009697", "url": "https://monarchinitiative.org/disease/MONDO:0009697", "resource": "MONDO", "name": "myoclonic epilepsy of Lafora", "description": "" }, { "id": "MONDO:0009697", "url": "https://monarchinitiative.org/disease/MONDO:0009697", "resource": "MONDO", "name": "Lafora's disease", "description": "" }, { "id": "MONDO:0009697", "url": "https://monarchinitiative.org/disease/MONDO:0009697", "resource": "MONDO", "name": "Melf", "description": "" }, { "id": "MONDO:0009697", "url": "https://monarchinitiative.org/disease/MONDO:0009697", "resource": "MONDO", "name": "Lafora body disorder", "description": "" }, { "id": "MONDO:0009697", "url": "https://monarchinitiative.org/disease/MONDO:0009697", "resource": "MONDO", "name": "epilepsy, progressive myoclonic, 2B", "description": "" }, { "id": "MONDO:0009697", "url": "https://monarchinitiative.org/disease/MONDO:0009697", "resource": "MONDO", "name": "Lafora body disease", "description": "" }, { "id": "MONDO:0009697", "url": "https://monarchinitiative.org/disease/MONDO:0009697", "resource": "MONDO", "name": "epilepsy, progressive myoclonic, 2A", "description": "" }, { "id": "MONDO:0009697", "url": "https://monarchinitiative.org/disease/MONDO:0009697", "resource": "MONDO", "name": "Epm2", "description": "" }, { "id": "MONDO:0009697", "url": "https://monarchinitiative.org/disease/MONDO:0009697", "resource": "MONDO", "name": "PME type 2", "description": "" }, { "id": "MONDO:0009697", "url": "https://monarchinitiative.org/disease/MONDO:0009697", "resource": "MONDO", "name": "progressive myoclonus epilepsy type 2", "description": "" }, { "id": "MONDO:0009697", "url": "https://monarchinitiative.org/disease/MONDO:0009697", "resource": "MONDO", "name": "epilepsy progressive myoclonic 2", "description": "" }, { "id": "DOID:3534", "url": "http://disease-ontology.org/term/DOID:3534", "resource": "Disease Ontology", "name": "Lafora Progressive Myoclonic Epilepsy", "description": "" }, { "id": "DOID:3534", "url": "http://disease-ontology.org/term/DOID:3534", "resource": "Disease Ontology", "name": "Lafora's disease", "description": "" }, { "id": "DOID:3534", "url": "http://disease-ontology.org/term/DOID:3534", "resource": "Disease Ontology", "name": "MYOCLONIC EPILEPSY OF LAFORA", "description": "" } ], "recommended_name": { "id": "DOID:3534", "url": "http://disease-ontology.org/term/DOID:3534", "resource": "Disease Ontology", "name": "Lafora disease", "description": "A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/3534#disease-associations", "id": "3534", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [ { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "start_pos": "11", "end_pos": "11", "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "kinase_gene_name": "Oser1", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22673903", "id": "22673903", "database": "PubMed" } ], "start_pos": "412", "end_pos": "412", "kinase_uniprot_canonical_ac": "Q703I1-1" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "start_pos": "412", "end_pos": "412", "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "kinase_gene_name": "Oser1", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22673903", "id": "22673903", "database": "PubMed" } ], "start_pos": "641", "end_pos": "641", "kinase_uniprot_canonical_ac": "Q703I1-1" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "start_pos": "641", "end_pos": "641", "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "kinase_gene_name": "Oser1", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22673903", "id": "22673903", "database": "PubMed" } ], "start_pos": "645", "end_pos": "645", "kinase_uniprot_canonical_ac": "Q703I1-1" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "start_pos": "645", "end_pos": "645", "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "start_pos": "649", "end_pos": "649", "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "kinase_gene_name": "Oser1", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22673903", "id": "22673903", "database": "PubMed" } ], "start_pos": "652", "end_pos": "652", "kinase_uniprot_canonical_ac": "Q703I1-1" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "start_pos": "652", "end_pos": "652", "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "kinase_gene_name": "Oser1", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22673903", "id": "22673903", "database": "PubMed" } ], "start_pos": "653", "end_pos": "653", "kinase_uniprot_canonical_ac": "Q703I1-1" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "start_pos": "653", "end_pos": "653", "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "kinase_gene_name": "Oser1", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22673903", "id": "22673903", "database": "PubMed" } ], "start_pos": "657", "end_pos": "657", "kinase_uniprot_canonical_ac": "Q703I1-1" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "start_pos": "657", "end_pos": "657", "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "kinase_gene_name": "Oser1", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22673903", "id": "22673903", "database": "PubMed" } ], "start_pos": "672", "end_pos": "672", "kinase_uniprot_canonical_ac": "Q703I1-1" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "start_pos": "672", "end_pos": "672", "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "start_pos": "698", "end_pos": "698", "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "start_pos": "709", "end_pos": "709", "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "start_pos": "711", "end_pos": "711", "kinase_uniprot_canonical_ac": "" }, { "residue": "Thr", "kinase_gene_name": "Oser1", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22673903", "id": "22673903", "database": "PubMed" } ], "start_pos": "722", "end_pos": "722", "kinase_uniprot_canonical_ac": "Q703I1-1" }, { "residue": "Thr", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "start_pos": "722", "end_pos": "722", "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "start_pos": "728", "end_pos": "728", "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "id": "A2RRU1", "database": "UniProtKB" } ], "start_pos": "8", "end_pos": "8", "kinase_uniprot_canonical_ac": "" } ], "mass": { "monoisotopic_mass": 84072.0, "chemical_mass": 84072.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1", "name": "Gys1", "locus": { "end_pos": 101447092, "strand": "+", "start_pos": 101427195, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOG00000020812", "id": "ENSRNOG00000020812", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A2RRU1#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "2.4.1.11" }, { "url": "https://www.uniprot.org/uniprot/A2RRU1#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Glycogen [starch] synthase, muscle" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RRU1", "type": "synonym", "resource": "RefSeq", "name": "glycogen [starch] synthase, muscle" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RRU1", "type": "synonym", "resource": "RefSeq", "name": "glycogen synthase 1, muscle" } ] }