{ "uniprot_canonical_ac": "P13807-1", "uniprot_ac": "P13807", "uniprot_id": "GYS1_HUMAN", "mass": { "chemical_mass": 83786.0, "monoisotopic_mass": 83786.0 }, "refseq": { "ac": "NP_001155059", "name": "glycogen [starch] synthase, muscle isoform 2", "summary": "The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155059" }, "gene_names": [ { "name": "GYS1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P13807", "id": "P13807" }, { "name": "GSY; GYS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155059", "id": "NP_001155059" }, { "name": "GYS1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155059", "id": "NP_001155059" }, { "name": "GYS", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P13807", "id": "P13807" } ], "protein_names": [ { "name": "Glycogen [starch] synthase, muscle", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P13807" }, { "name": "2.4.1.11", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13807" }, { "name": "Glycogen synthase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13807" }, { "name": "glycogen [starch] synthase, muscle isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155059", "id": "NP_001155059" }, { "name": "glycogen [starch] synthase, muscle; glycogen synthase 1 (muscle)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155059", "id": "NP_001155059" } ], "function": [ { "annotation": "Glycogen synthase participates in the glycogen biosynthetic process along with glycogenin and glycogen branching enzyme. Extends the primer composed of a few glucose units formed by glycogenin by adding new glucose units to it. In this context, glycogen synthase transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan.", "evidence": [ { "database": "UniProtKB", "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807#function" }, { "database": "PubMed", "id": "35835870", "url": "https://glygen.org/publication/PubMed/35835870" } ] }, { "annotation": "Insulin-stimulated glycogen synthase (GS) activity was completely ablated during hyperinsulinemic hypoglycemia, and catecholamine signaling via cAMP-dependent protein kinase (PKA) and phosphorylation of inhibiting sites on GS all increased.", "evidence": [ { "database": "RefSeq", "id": "NP_001155059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155059" }, { "database": "PubMed", "id": "28596236", "url": "https://glygen.org/publication/PubMed/28596236" } ] }, { "annotation": "Pulmonary glycogen deficiency as a new potential cause of respiratory distress syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001155059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155059" }, { "database": "PubMed", "id": "33219378", "url": "https://glygen.org/publication/PubMed/33219378" } ] }, { "annotation": "The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001155059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155059" } ] }, { "annotation": "The structural mechanism of human glycogen synthesis by the GYS1-GYG1 complex.", "evidence": [ { "database": "RefSeq", "id": "NP_001155059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155059" }, { "database": "PubMed", "id": "35793618", "url": "https://glygen.org/publication/PubMed/35793618" } ] }, { "annotation": "Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan.", "evidence": [ { "database": "UniProtKB", "id": "M0QYU1", "url": "https://www.uniprot.org/uniprot/M0QYU1#function" }, { "database": "UniProtKB", "id": "RU363104", "url": "https://www.uniprot.org/uniprot/RU363104#function" }, { "database": "UniProtKB", "id": "ARBA00003605", "url": "https://www.uniprot.org/uniprot/ARBA00003605#function" } ] } ], "disease": [ { "disease_id": "MONDO:0012693", "recommended_name": { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "glycogen storage disease due to muscle and heart glycogen synthase deficiency", "description": "A glycogen storage disease characterized by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase." }, "synonyms": [ { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "GSD due to muscle and heart glycogen synthase deficiency", "description": "" }, { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "GSD type 0b", "description": "" }, { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "glycogen storage disease due to glycogen synthase deficiency of heart", "description": "" }, { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "glycogen storage disease type 0b", "description": "" }, { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "glycogenosis due to muscle and heart glycogen synthase deficiency", "description": "" }, { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "glycogenosis type 0b", "description": "" }, { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "heart glycogen storage disease due to glycogen synthase deficiency", "description": "" }, { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "GSD 0B", "description": "" }, { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "GSD0B", "description": "" }, { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "glycogen storage disease 0, muscle", "description": "" }, { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "glycogen storage disease type 0, muscle", "description": "" }, { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "muscle glycogen storage disease 0", "description": "" }, { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "muscle glycogen synthase deficiency", "description": "" }, { "id": "MIM:611556", "resource": "MIM", "url": "https://www.omim.org/entry/611556", "name": "Muscle glycogen storage disease 0", "description": "Muscle glycogen storage disease 0" } ], "evidence": [ { "id": "611556", "database": "MIM", "url": "https://www.omim.org/entry/611556" } ] } ], "snv": [ { "evidence": [ { "id": "P13807", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13807" }, { "id": "rs963541918", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs963541918" }, { "id": "rs963541918", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs963541918" }, { "id": "rs963541918", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs963541918#frequency_tab" }, { "id": "rs963541918", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs963541918" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 151, "end_pos": 151, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NDA->NDT).", "chr_id": "19", "chr_pos": "48987235", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A151", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", 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"" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": 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"MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", 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"resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P13807", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13807" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P13807", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13807" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807" } ], "common_name": "Human" } ], "gene": [ { "name": "GYS1", "url": "https://www.uniprot.org/uniprot/P13807", "locus": { "chromosome": "19", "start_pos": 48968130, "end_pos": 48993310, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000104812", "url": "https://www.ensembl.org/id/ENSG00000104812" } ] } } ], "crossref": [ { "id": "ENSG00000104812", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104812", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P13807", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13807", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "2.4.1.11", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=2.4.1.11&UniProtAcc=P13807", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "GT3", "url": "http://www.cazy.org/GT3.html", "database": "CAZy", "categories": [ "Protein Classification" ] }, { "id": "cd03793", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd03793", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL4000", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL4000", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "GYS1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=GYS1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "2997", "url": "https://www.ncbi.nlm.nih.gov/gene/2997", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "4706", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4706", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P13807", "url": "https://www.ebi.ac.uk/intact/interactors/id:P13807*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR008631", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008631", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:2997", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2997", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "138570", "url": "http://www.omim.org/entry/138570", "database": "MIM", "categories": [ "Other" ] }, { "id": "611556", "url": "http://www.omim.org/entry/611556", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P13807", "url": "https://www.nextprot.org/entry/NX_P13807", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P13807", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13807", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "RDVRNHI", "url": "https://omabrowser.org/oma/group/RDVRNHI/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "9432at2759", "url": "http://www.orthodb.org/?query=9432at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10176", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10176", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10176:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10176:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "7Q0B", "url": "https://www.rcsb.org/structure/7Q0B", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7Q0S", "url": "https://www.rcsb.org/structure/7Q0S", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7Q12", "url": "https://www.rcsb.org/structure/7Q12", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7Q13", "url": "https://www.rcsb.org/structure/7Q13", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7ZBN", "url": "https://www.rcsb.org/structure/7ZBN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8CVX", "url": "https://www.rcsb.org/structure/8CVX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8CVY", "url": "https://www.rcsb.org/structure/8CVY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8CVZ", "url": "https://www.rcsb.org/structure/8CVZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF05693", "url": "http://pfam.xfam.org/family/PF05693", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P13807", "url": "https://pharos.nih.gov/targets/P13807", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P13807", "url": "http://purl.obolibrary.org/obo/PR_P13807", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-3322077", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322077", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3785653", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3785653", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3814836", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3814836", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3828062", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3828062", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001155059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155059", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "18549", "url": "https://www.rhea-db.org/rhea/18549", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "M0QYU1", "url": "https://www.uniprot.org/uniprot/M0QYU1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0QYU1-1", "url": "https://www.uniprot.org/uniprot/M0QYU1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13807-1", "url": "https://www.uniprot.org/uniprot/P13807-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13807-2", "url": "https://www.uniprot.org/uniprot/P13807-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPLNRTLSMSSLPGLEDWEDEFDLENAVLFEVAWEVANKVGGIYTVLQTKAKVTGDEWGDNYFLVGPYTEQGVRTQVELLEAPTPALKRTLDSMNSKGCKVYFGRWLIEGGPLVVLLDVGASAWALERWKGELWDTCNIGVPWYDREANDAVLFGFLTTWFLGEFLAQSEEKPHVVAHFHEWLAGVGLCLCRARRLPVATIFTTHATLLGRYLCAGAVDFYNNLENFNVDKEAGERQIYHRYCMERAAAHCAHVFTTVSQITAIEAQHLLKRKPDIVTPNGLNVKKFSAMHEFQNLHAQSKARIQEFVRGHFYGHLDFNLDKTLYFFIAGRYEFSNKGADVFLEALARLNYLLRVNGSEQTVVAFFIMPARTNNFNVETLKGQAVRKQLWDTANTVKEKFGRKLYESLLVGSLPDMNKMLDKEDFTMMKRAIFATQRQSFPPVCTHNMLDDSSDPILTTIRRIGLFNSSADRVKVIFHPEFLSSTSPLLPVDYEEFVRGCHLGVFPSYYEPWGYTPAECTVMGIPSISTNLSGFGCFMEEHIADPSAYGIYILDRRFRSLDDSCSQLTSFLYSFCQQSRRQRIIQRNRTERLSDLLDWKYLGRYYMSARHMALSKAFPEHFTYEPNEADAAQGYRYPRPASVPPSPSLSRHSSPHQSEDEEDPRNGPLEEDGERYDEDEEAAKDRRNIRAPEWPRRASCTSSTSGSKRNSVDTATSSSLSTPSEPLSPTSSLGEERN", "length": 737, "header": "sp|P13807-1|GYS1_HUMAN Isoform 1 of Glycogen [starch] synthase, muscle OS=Homo sapiens OX=9606 GN=GYS1 PE=1 SV=2 CANONICAL=P13807-1" }, "isoforms": [ { "isoform_ac": "M0QYU1-1", "url": "", "sequence": { "sequence": "XIYILDRRFRSLDDSCSQLTSFLYSFCQQSRRQRIIQRNRTERLSDLLDWKYLGRVGPPLSYPLLANQQLLARGLWCRVQGLILLVTVAVPLSNEPGRSRWWLMVVIPALWEA", "length": 113, "header": "tr|M0QYU1-1|GYS1_HUMAN Computationally mapped isoform of Glycogen [starch] synthase, muscle OS=Homo sapiens OX=9606 GN=GYS1 PE=1 SV=1 CANONICAL=P13807-1" }, "locus": { "chromosome": "19", "start_pos": 48970709, "end_pos": 48970371, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000594220.1", "url": "https://www.ensembl.org/id/ENST00000594220.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000470072.1", "url": "https://www.ensembl.org/id/ENSP00000470072.1" } ] } }, { "isoform_ac": "P13807-1", "url": "", "sequence": { "sequence": "MPLNRTLSMSSLPGLEDWEDEFDLENAVLFEVAWEVANKVGGIYTVLQTKAKVTGDEWGDNYFLVGPYTEQGVRTQVELLEAPTPALKRTLDSMNSKGCKVYFGRWLIEGGPLVVLLDVGASAWALERWKGELWDTCNIGVPWYDREANDAVLFGFLTTWFLGEFLAQSEEKPHVVAHFHEWLAGVGLCLCRARRLPVATIFTTHATLLGRYLCAGAVDFYNNLENFNVDKEAGERQIYHRYCMERAAAHCAHVFTTVSQITAIEAQHLLKRKPDIVTPNGLNVKKFSAMHEFQNLHAQSKARIQEFVRGHFYGHLDFNLDKTLYFFIAGRYEFSNKGADVFLEALARLNYLLRVNGSEQTVVAFFIMPARTNNFNVETLKGQAVRKQLWDTANTVKEKFGRKLYESLLVGSLPDMNKMLDKEDFTMMKRAIFATQRQSFPPVCTHNMLDDSSDPILTTIRRIGLFNSSADRVKVIFHPEFLSSTSPLLPVDYEEFVRGCHLGVFPSYYEPWGYTPAECTVMGIPSISTNLSGFGCFMEEHIADPSAYGIYILDRRFRSLDDSCSQLTSFLYSFCQQSRRQRIIQRNRTERLSDLLDWKYLGRYYMSARHMALSKAFPEHFTYEPNEADAAQGYRYPRPASVPPSPSLSRHSSPHQSEDEEDPRNGPLEEDGERYDEDEEAAKDRRNIRAPEWPRRASCTSSTSGSKRNSVDTATSSSLSTPSEPLSPTSSLGEERN", "length": 737, "header": "sp|P13807-1|GYS1_HUMAN Isoform 1 of Glycogen [starch] synthase, muscle OS=Homo sapiens OX=9606 GN=GYS1 PE=1 SV=2 CANONICAL=P13807-1" }, "locus": { "chromosome": "19", "start_pos": 48993112, "end_pos": 48969291, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000323798.8", "url": "https://www.ensembl.org/id/ENST00000323798.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000317904.3", "url": "https://www.ensembl.org/id/ENSP00000317904.3" } ] } }, { "isoform_ac": "P13807-2", "url": "", "sequence": { "sequence": "MPLNRTLSMSSLPGLEDWEDEFDLENAVLFEVAWEVANKVGGIYTVLQTKAKVTGDEWGDNYFLVGPYTEQGVRTQVELLEAPTPALKRTLDSMNSKGCKFLAQSEEKPHVVAHFHEWLAGVGLCLCRARRLPVATIFTTHATLLGRYLCAGAVDFYNNLENFNVDKEAGERQIYHRYCMERAAAHCAHVFTTVSQITAIEAQHLLKRKPDIVTPNGLNVKKFSAMHEFQNLHAQSKARIQEFVRGHFYGHLDFNLDKTLYFFIAGRYEFSNKGADVFLEALARLNYLLRVNGSEQTVVAFFIMPARTNNFNVETLKGQAVRKQLWDTANTVKEKFGRKLYESLLVGSLPDMNKMLDKEDFTMMKRAIFATQRQSFPPVCTHNMLDDSSDPILTTIRRIGLFNSSADRVKVIFHPEFLSSTSPLLPVDYEEFVRGCHLGVFPSYYEPWGYTPAECTVMGIPSISTNLSGFGCFMEEHIADPSAYGIYILDRRFRSLDDSCSQLTSFLYSFCQQSRRQRIIQRNRTERLSDLLDWKYLGRYYMSARHMALSKAFPEHFTYEPNEADAAQGYRYPRPASVPPSPSLSRHSSPHQSEDEEDPRNGPLEEDGERYDEDEEAAKDRRNIRAPEWPRRASCTSSTSGSKRNSVDTATSSSLSTPSEPLSPTSSLGEERN", "length": 673, "header": "sp|P13807-2|GYS1_HUMAN Isoform 2 of Glycogen [starch] synthase, muscle OS=Homo sapiens OX=9606 GN=GYS1 PE=1 SV=2 CANONICAL=P13807-1" }, "locus": { "chromosome": "19", "start_pos": 48993112, "end_pos": 48969291, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000263276.6", "url": "https://www.ensembl.org/id/ENST00000263276.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000263276.6", "url": "https://www.ensembl.org/id/ENSP00000263276.6" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 90, "start_aa": "Thr", "end_pos": 90, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr90", "evidence": [ { "id": "P13807", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13807" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" } ] } ], "phosphorylation": [ { "start_pos": 10, "end_pos": 10, "kinase_uniprot_canonical_ac": "P68400-1", "kinase_gene_name": "CSNK2A1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P13807", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13807" }, { "database": "PubMed", "id": "2117608", "url": "https://glygen.org/publication/PubMed/2117608" } ], "site_lbl": "Ser10" }, { "start_pos": 11, "end_pos": 11, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807" } ], "site_lbl": "Ser11" }, { "start_pos": 412, "end_pos": 412, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "35690592", "url": "https://glygen.org/publication/PubMed/35690592" }, { "database": "iPTMnet", "id": "P13807", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13807" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser412" }, { "start_pos": 636, "end_pos": 636, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P13807", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13807" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "P13807", "url": "http://phospho.elm.eu.org/byAccession/P13807.html" } ], "site_lbl": "Tyr636" }, { "start_pos": 641, "end_pos": 641, "kinase_uniprot_canonical_ac": "P49840-1", "kinase_gene_name": "GSK3A", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P13807", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13807" }, { "database": "PubMed", "id": "14593110", "url": "https://glygen.org/publication/PubMed/14593110" } ], "site_lbl": "Ser641" }, { "start_pos": 641, "end_pos": 641, "kinase_uniprot_canonical_ac": "P49841-1", "kinase_gene_name": "GSK3B", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P13807", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13807" }, { "database": "PubMed", "id": "11427888", "url": "https://glygen.org/publication/PubMed/11427888" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "6772446", "url": "https://glygen.org/publication/PubMed/6772446" }, { "database": "PubMed", "id": "15791206", "url": "https://glygen.org/publication/PubMed/15791206" }, { "database": "PubMed", "id": "14593110", "url": "https://glygen.org/publication/PubMed/14593110" } ], "site_lbl": "Ser641" }, { "start_pos": 641, "end_pos": 641, "kinase_uniprot_canonical_ac": "Q92630-1", "kinase_gene_name": "DYRK2", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P13807", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13807" }, { "database": "PubMed", "id": "14593110", "url": "https://glygen.org/publication/PubMed/14593110" } ], "site_lbl": "Ser641" }, { 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responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation.", "journal": "Human molecular genetics", "date": "2003", "authors": "Fernandez-Sanchez ME, Criado-Garcia O, Heath KE, Garcia-Fojeda B, Medrano-Fernandez I, Gomez-Garre P, Sanz P, Serratosa JM, Rodriguez de Cordoba S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3785653", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3785653" } ], "reference": [ { "type": "PubMed", "id": "14532330", "url": "https://glygen.org/publication/PubMed/14532330" } ] }, { "title": "Phosphorylation of Ser640 in muscle glycogen synthase by DYRK family protein kinases.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Skurat AV, Dietrich AD", "evidence": [ { "database": "iPTMnet", "id": "P13807", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13807" } ], "reference": [ { "type": "PubMed", "id": "14593110", "url": 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Biochem. Biophys.", "date": "2006", "authors": "Skurat Alexander V, Dietrich Amy D, Roach Peter J", "evidence": [ { "database": "UniProtKB", "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807" } ], "reference": [ { "type": "PubMed", "id": "17055998", "url": "https://glygen.org/publication/PubMed/17055998" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P13807-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13807-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.", "journal": "N. Engl. J. Med.", "date": "2007", "authors": "Kollberg G, Tulinius M, Gilljam T, Ostman-Smith I, Forsander G, Jotorp P, Oldfors A, Holme E", "evidence": [ { "database": "UniProtKB", "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807" }, { "database": "Reactome", "id": "R-HSA-3828062", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3828062" } ], "reference": [ { "type": "PubMed", "id": "17928598", "url": "https://glygen.org/publication/PubMed/17928598" } ] }, { "title": "Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Tagliabracci VS, Turnbull J, Wang W, Girard JM, Zhao X, Skurat AV, Delgado-Escueta AV, Minassian BA, Depaoli-Roach AA, Roach PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-3322077", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322077" } ], "reference": [ { "type": "PubMed", "id": "18040046", "url": "https://glygen.org/publication/PubMed/18040046" } ] }, { "title": "Malin decreases glycogen accumulation by promoting the degradation of protein targeting to glycogen (PTG).", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Worby CA, Gentry MS, Dixon JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-3322077", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322077" } ], "reference": [ { "type": "PubMed", "id": "18070875", "url": "https://glygen.org/publication/PubMed/18070875" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807" }, { "database": "iPTMnet", "id": "P13807-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13807-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Mol. Cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807" }, { "database": "iPTMnet", "id": "P13807-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13807-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "P13807-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13807-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P13807-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13807-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "P13807-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13807-1" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807" }, { "database": "iPTMnet", "id": "P13807", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13807" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "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", "date": "2009", "authors": "Cameron JM, Levandovskiy V, MacKay N, Utgikar R, Ackerley C, Chiasson D, Halliday W, Raiman J, Robinson BH", "evidence": [ { "database": "Reactome", "id": "R-HSA-3322077", "url": 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[ { "database": "iPTMnet", "id": "P13807-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13807-1" } ], "reference": [ { "type": "PubMed", "id": "2117608", "url": "https://glygen.org/publication/PubMed/2117608" } ] }, { "title": "Phosphate incorporation during glycogen synthesis and Lafora disease.", "journal": "Cell metabolism", "date": "2011", "authors": "Tagliabracci VS, Heiss C, Karthik C, Contreras CJ, Glushka J, Ishihara M, Azadi P, Hurley TD, DePaoli-Roach AA, Roach PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-3322077", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322077" } ], "reference": [ { "type": "PubMed", "id": "21356517", "url": "https://glygen.org/publication/PubMed/21356517" } ] }, { "title": "R3F, a novel membrane-associated glycogen targeting subunit of protein phosphatase 1 regulates glycogen synthase in astrocytoma cells in response to glucose and extracellular signals.", "journal": "J. Neurochem.", "date": "2011", "authors": "Kelsall IR, Voss M, Munro S, Cuthbertson DJ, Cohen PT", "evidence": [ { "database": "UniProtKB", "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807" } ], "reference": [ { "type": "PubMed", "id": "21668450", "url": "https://glygen.org/publication/PubMed/21668450" } ] }, { "title": "Glycogen and its metabolism: some new developments and old themes.", "journal": "The Biochemical journal", "date": "2012", "authors": "Roach PJ, Depaoli-Roach AA, Hurley TD, Tagliabracci VS", "evidence": [ { "database": "Reactome", "id": "R-HSA-3322077", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322077" } ], "reference": [ { "type": "PubMed", "id": "22248338", "url": "https://glygen.org/publication/PubMed/22248338" } ] }, { "title": "Deciphering the role of malin in the lafora progressive myoclonus epilepsy.", "journal": "IUBMB life", "date": "2012", "authors": "Roma-Mateo C, Sanz P, Gentry MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-3785653", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3785653" } ], "reference": [ { "type": "PubMed", "id": "22815132", "url": "https://glygen.org/publication/PubMed/22815132" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807" }, { "database": "iPTMnet", "id": "P13807", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13807" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Hyperphosphorylation of glucosyl C6 carbons and altered structure of glycogen in the neurodegenerative epilepsy Lafora disease.", "journal": "Cell metabolism", "date": "2013", "authors": "Nitschke F, Wang P, Schmieder P, Girard JM, Awrey DE, Wang T, Israelian J, Zhao X, Turnbull J, Heydenreich M, Kleinpeter E, Steup M, Minassian BA", "evidence": [ { "database": "Reactome", "id": "R-HSA-3322077", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322077" } ], "reference": [ { "type": "PubMed", "id": "23663739", "url": "https://glygen.org/publication/PubMed/23663739" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807" }, { "database": "iPTMnet", "id": "P13807", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13807" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Human muscle glycogen synthase cDNA sequence: a negatively charged protein with an asymmetric charge distribution.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1989", "authors": "Browner MF, Nakano K, Bang AG, Fletterick RJ", "evidence": [ { "database": "UniProtKB", "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807" } ], "reference": [ { "type": "PubMed", "id": "2493642", "url": "https://glygen.org/publication/PubMed/2493642" } ] }, { "title": "Synergistic phosphorylation of rabbit muscle glycogen synthase by cyclic AMP-dependent protein kinase and casein kinase I. Implications for hormonal regulation of glycogen synthase.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Flotow H, Roach PJ", "evidence": [ { "database": "iPTMnet", "id": "P13807", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13807" } ], "reference": [ { "type": "PubMed", "id": "2498326", "url": "https://glygen.org/publication/PubMed/2498326" } ] }, { "title": "Glycogen phosphomonoester distribution in mouse models of the progressive myoclonic epilepsy, Lafora disease.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "DePaoli-Roach AA, Contreras CJ, Segvich DM, Heiss C, Ishihara M, Azadi P, Roach PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-3322077", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322077" } ], "reference": [ { "type": "PubMed", "id": "25416783", "url": "https://glygen.org/publication/PubMed/25416783" } ] }, { "title": "Dimeric quaternary structure of human laforin.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Sankhala RS, Koksal AC, Ho L, Nitschke F, Minassian BA, Cingolani G", "evidence": [ { "database": "Reactome", "id": "R-HSA-3322077", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322077" } ], "reference": [ { "type": "PubMed", "id": "25538239", "url": "https://glygen.org/publication/PubMed/25538239" } ] }, { "title": "Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease.", "journal": "Molecular cell", "date": "2015", "authors": "Raththagala M, Brewer MK, Parker MW, Sherwood AR, Wong BK, Hsu S, Bridges TM, Paasch BC, Hellman LM, Husodo S, Meekins DA, Taylor AO, Turner BD, Auger KD, Dukhande VV, Chakravarthy S, Sanz P, Woods VL Jr, Li S, Vander Kooi CW, Gentry MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-3322077", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322077" } ], "reference": [ { "type": "PubMed", "id": "25544560", "url": "https://glygen.org/publication/PubMed/25544560" } ] }, { "title": "Muscle glycogen remodeling and glycogen phosphate metabolism following exhaustive exercise of wild type and laforin knockout mice.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Irimia JM, Tagliabracci VS, Meyer CM, Segvich DM, DePaoli-Roach AA, Roach PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-3322077", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322077" } ], "reference": [ { "type": "PubMed", "id": "26216881", "url": "https://glygen.org/publication/PubMed/26216881" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P13807", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13807" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Acute Hypoglycemia in Healthy Humans Impairs Insulin-Stimulated Glucose Uptake and Glycogen Synthase in Skeletal Muscle: A Randomized Clinical Study.", "journal": "Diabetes", "date": "2017", "authors": "Voss TS, Vendelbo MH, Kampmann U, Hingst JR, Wojtaszewski JFP, Svart MV, Moller N, Jessen N", "evidence": [ { "database": "RefSeq", "id": "NP_001155059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155059" } ], "reference": [ { "type": "PubMed", "id": "28596236", "url": "https://glygen.org/publication/PubMed/28596236" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P13807", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13807" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Pulmonary glycogen deficiency as a new potential cause of respiratory distress syndrome.", "journal": "Human molecular genetics", "date": "2021", "authors": "Testoni G, Olmeda B, Duran J, Lopez-Rodriguez E, Aguilera M, Hernandez-Alvarez MI, Prats N, Perez-Gil J, Guinovart JJ", "evidence": [ { "database": "RefSeq", "id": "NP_001155059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155059" } ], "reference": [ { "type": "PubMed", "id": "33219378", "url": "https://glygen.org/publication/PubMed/33219378" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P13807", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13807" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P13807", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13807" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "Mechanism of glycogen synthase inactivation and interaction with glycogenin.", "journal": "Nature communications", "date": "2022-06-11", "authors": "Marr Laura, Biswas Dipsikha, Daly Leonard A, Browning Christopher, Vial Sarah C M, Maskell Daniel P, Hudson Catherine, Bertrand Jay A, Pollard John, Ranson Neil A, Khatter Heena, Eyers Claire E, Sakamoto Kei, Zeqiraj Elton", "evidence": [ { "database": "UniProtKB", "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807" } ], "reference": [ { "type": "PubMed", "id": "35690592", "url": "https://glygen.org/publication/PubMed/35690592" } ] }, { "title": "The structural mechanism of human glycogen synthesis by the GYS1-GYG1 complex.", "journal": "Cell reports", "date": "2022", "authors": "Fastman NM, Liu Y, Ramanan V, Merritt H, Ambing E, DePaoli-Roach AA, Roach PJ, Hurley TD, Mellem KT, Ullman JC, Green E, Morgans D Jr, Tzitzilonis C", "evidence": [ { "database": "RefSeq", "id": "NP_001155059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155059" } ], "reference": [ { "type": "PubMed", "id": "35793618", "url": "https://glygen.org/publication/PubMed/35793618" } ] }, { "title": "Molecular basis for the regulation of human glycogen synthase by phosphorylation and glucose-6-phosphate.", "journal": "Nature structural & molecular biology", "date": "2022-07", "authors": "McCorvie Thomas J, Loria Paula M, Tu Meihua, Han Seungil, Shrestha Leela, Froese D Sean, Ferreira Igor M, Berg Allison P, Yue Wyatt W", "evidence": [ { "database": "UniProtKB", "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807" } ], "reference": [ { "type": "PubMed", "id": "35835870", "url": "https://glygen.org/publication/PubMed/35835870" } ] }, { "title": "A kinetic study of the isozymes determined by the three human phosphoglucomutase loci PGM1, PGM2, and PGM3.", "journal": "European journal of biochemistry", "date": "1974", "authors": "Quick CB, Fisher RA, Harris H", "evidence": [ { "database": "Reactome", "id": "R-HSA-3322077", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322077" } ], "reference": [ { "type": "PubMed", "id": "4829444", "url": "https://glygen.org/publication/PubMed/4829444" } ] }, { "title": "Uridine diphosphate glucose pyrophosphorylase. II.", "journal": "The Journal of biological chemistry", "date": "1969", "authors": "Levine S, Illett TA, Hagman E, Hansen RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-3322077", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322077" } ], "reference": [ { "type": "PubMed", "id": "5348606", "url": "https://glygen.org/publication/PubMed/5348606" } ] }, { "title": "Uridine diphosphate glucose pyrophosphorylase. IV. Crystallization and properties of the enzyme from human liver.", "journal": "The Journal of biological chemistry", "date": "1970", "authors": "Knop JK, Hansen RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-3322077", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322077" } ], "reference": [ { "type": "PubMed", "id": "5427280", "url": "https://glygen.org/publication/PubMed/5427280" } ] }, { "title": "Glycogen synthase from rabbit skeletal muscle. Amino acid sequence at the sites phosphorylated by glycogen synthase kinase-3, and extension of the N-terminal sequence containing the site phosphorylated by phosphorylase kinase.", "journal": "European journal of biochemistry", "date": "1980", "authors": "Rylatt DB, Aitken A, Bilham T, Condon GD, Embi N, Cohen P", "evidence": [ { "database": "iPTMnet", "id": "P13807-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13807-1" } ], "reference": [ { "type": "PubMed", "id": "6772446", "url": "https://glygen.org/publication/PubMed/6772446" } ] }, { "title": "Isolation and characterization of the human muscle glycogen synthase gene.", "journal": "Diabetes", "date": "1995", "authors": "Orho M, Nikula-Ijas P, Schalin-Jantti C, Permutt MA, Groop LC", "evidence": [ { "database": "UniProtKB", "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807" } ], "reference": [ { "type": "PubMed", "id": "7657035", "url": "https://glygen.org/publication/PubMed/7657035" } ] }, { "title": "The classical human phosphoglucomutase (PGM1) isozyme polymorphism is generated by intragenic recombination.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "March RE, Putt W, Hollyoake M, Ives JH, Lovegrove JU, Hopkinson DA, Edwards YH, Whitehouse DB", "evidence": [ { "database": "Reactome", "id": "R-HSA-3322077", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322077" } ], "reference": [ { "type": "PubMed", "id": "7902568", "url": "https://glygen.org/publication/PubMed/7902568" } ] }, { "title": "Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.", "journal": "The Journal of clinical investigation", "date": "1996", "authors": "Bao Y, Kishnani P, Wu JY, Chen YT", "evidence": [ { "database": "Reactome", "id": "R-HSA-3322077", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322077" } ], "reference": [ { "type": "PubMed", "id": "8613547", "url": "https://glygen.org/publication/PubMed/8613547" } ] }, { "title": "Sequence differences between human muscle and liver cDNAs for UDPglucose pyrophosphorylase and kinetic properties of the recombinant enzymes expressed in Escherichia coli.", "journal": "European journal of biochemistry", "date": "1996", "authors": "Duggleby RG, Chao YC, Huang JG, Peng HL, Chang HY", "evidence": [ { "database": "Reactome", "id": "R-HSA-3322077", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322077" } ], "reference": [ { "type": "PubMed", "id": "8631325", "url": "https://glygen.org/publication/PubMed/8631325" } ] }, { "title": "Cloning and characterization of a glycogen synthase cDNA from human endometrium.", "journal": "J. Steroid Biochem. Mol. Biol.", "date": "1996", "authors": "Su X, Schuler L, Shapiro S", "evidence": [ { "database": "UniProtKB", "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807" } ], "reference": [ { "type": "PubMed", "id": "9010351", "url": "https://glygen.org/publication/PubMed/9010351" } ] }, { "title": "Glycogenin-2, a novel self-glucosylating protein involved in liver glycogen biosynthesis.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Mu J, Skurat AV, Roach PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-3322077", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322077" } ], "reference": [ { "type": "PubMed", "id": "9346895", "url": "https://glygen.org/publication/PubMed/9346895" } ] }, { "title": "Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.", "journal": "The Journal of clinical investigation", "date": "1998", "authors": "Orho M, Bosshard NU, Buist NR, Gitzelmann R, Aynsley-Green A, Blumel P, Gannon MC, Nuttall FQ, Groop LC", "evidence": [ { "database": "Reactome", "id": "R-HSA-3322077", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322077" } ], "reference": [ { "type": "PubMed", "id": "9691087", "url": "https://glygen.org/publication/PubMed/9691087" } ] }, { "title": "Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.", "journal": "Nature genetics", "date": "1998", "authors": "Minassian BA, Lee JR, Herbrick JA, Huizenga J, Soder S, Mungall AJ, Dunham I, Gardner R, Fong CY, Carpenter S, Jardim L, Satishchandra P, Andermann E, Snead OC 3rd, Lopes-Cendes I, Tsui LC, Delgado-Escueta AV, Rouleau GA, Scherer SW", "evidence": [ { "database": "Reactome", "id": "R-HSA-3785653", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3785653" } ], "reference": [ { "type": "PubMed", "id": "9771710", "url": "https://glygen.org/publication/PubMed/9771710" } ] }, { "title": "A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).", "journal": "Human molecular genetics", "date": "1999", "authors": "Serratosa JM, Gomez-Garre P, Gallardo ME, Anta B, de Bernabe DB, Lindhout D, Augustijn PB, Tassinari CA, Malafosse RM, Topcu M, Grid D, Dravet C, Berkovic SF, de Cordoba SR", "evidence": [ { "database": "Reactome", "id": "R-HSA-3785653", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3785653" } ], "reference": [ { "type": "PubMed", "id": "9931343", "url": "https://glygen.org/publication/PubMed/9931343" } ] } ], "pathway": [ { "id": "hsa:2997", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2997", "resource": "KEGG Pathway" }, { "id": "R-HSA-3322077", "name": "Glycogen synthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322077", "resource": "Reactome", "description": "Glycogen synthesis" }, { "id": "R-HSA-3785653", "name": "Myoclonic epilepsy of Lafora", "url": 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"MPLSRSLSVSSLPGLEDWEDEFDPENAVLFEVAWEVANKVGGIYTVLQTKAKVTGDEWGDNYYLVGPYTEQGVRTQVELLEPPTPELKRTLDSMNSKGCKVYFGRWLIEGGPLVVLLDVGASAWALERWKGELWDTCNIGVPWYDREANDAVLFGFLTTWFLGEFLAQNEEKPYVVAHFHEWLAGVGLCLCRARRLPVATIFTTHATLLGRYLCAGAVDFYNNLENFNVDKEAGERQIYHRYCMERAAAHCAHVFTTVSQITAIEAQHLLKRKPDIVTPNGLNVKKFSAMHEFQNLHAQSKARIQEFVRGHFYGHLDFNLDKTLYFFIAGRYEFSNKGADVFLEALARLNYLLRVNGSEQTVVAFFIMPARTNNFNVETLKGQAVRKQLWDTANTVKEKFGRKLYESLLVGSLPDMNKMLDKEDFTMMKRAIFATQRQSFPPVCTHNMLDDSSDPILTTIRRIGLFNSSADRVKVIFHPEFLSSTSPLLPVDYEEFVRGCHLGVFPSYYEPWGYTPAECTVMGIPSISTNLSGFGCFMEEHIADPSAYGIYILDRRFRSLDDSCSQLTSFLYSFCQQSRRQRIIQRNRTERLSDLLDWKYLGRYYMSARHMALAKAFPDHFTYEPHEVDATQGYRYPRPASVPPSPSLSRHSSPHQSEDEEEPRDGPLGEDSERYDEEEEAAKDRRNIRAPEWPRRASCSSSTGGSKRSNSVDTGPSSSLSTPTEPLSPTSSLGEERN", "length": 738 }, "evidence": [ { "id": "45924641", "url": "http://www.informatics.jax.org/homology/45924641", "database": "MGI" }, { "id": "P13807", "url": "https://omabrowser.org/oma/group/P13807/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807" } ], "pmid": "" }, { "name": "inclusion body", "id": "GO:0016234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016234", "evidence": [ { "database": "UniProtKB", "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807" } ], "pmid": "" }, { "name": "glycogen biosynthetic process", "id": "GO:0005978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005978", "evidence": [ { "database": "UniProtKB", "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "glycogen (starch) synthase activity", "id": "GO:0004373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004373", "evidence": [ { "database": "UniProtKB", "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807" } ], "pmid": "" }, { "name": "glucose binding", "id": "GO:0005536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005536", "evidence": [ { "database": "UniProtKB", "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807" } ], "pmid": "" }, { "name": "glycogen synthase activity, transferring glucose-1-phosphate", "id": "GO:0061547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061547", "evidence": [ { "database": "UniProtKB", "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 356, "end_pos": 358, "annotation": "n_glycosylation_sequon" }, { "start_pos": 467, "end_pos": 469, "annotation": "n_glycosylation_sequon" }, { "start_pos": 4, "end_pos": 6, "annotation": "n_glycosylation_sequon" }, { "start_pos": 530, "end_pos": 532, "annotation": "n_glycosylation_sequon" }, { "start_pos": 587, "end_pos": 589, "annotation": "n_glycosylation_sequon" } ], "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 (By similarity). Phosphorylated at Ser-641 by DYRK2, leading to inactivation (By similarity). Phosphorylated at Ser-641 by PASK, leading to inactivation; phosphorylation by PASK is inhibited by glycogen. Dephosphorylation at Ser-641 and Ser-645 by PP1 activates the enzyme (PubMed:35835870).", "evidence": [ { "database": "UniProtKB", "id": "P13807", "url": "https://www.uniprot.org/uniprot/P13807" }, { "database": "PubMed", "id": "35835870", "url": "https://glygen.org/publication/PubMed/35835870" } ] } ], "interactions": [], "reactions": [ { "id": "18549", "name": "", "equation": "[(1->4)-alpha-D-glucosyl](n) + UDP-alpha-D-glucose = [(1->4)-alpha-D-glucosyl](n+1) + H(+) + UDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P17625-1", "A2RRU1-1", "P13807-1", "P54840-1", "Q9Z1E4-1", "Q8VCB3-1", "P23337-1", "P27472-1", "Q55GH4-1", "Q9VFC8-1" ], "evidence": [ { "id": "18549", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/18549" } ] }, { "id": "R-HSA-3322001", "name": "GYS1 catalyzes the polyglucosylation of oligoGlc-GYG1", "equation": "", "summary": "Unphosphorylated glycogen synthase 1 (GYS1-a) complexed with oligo-D-glucose-GYG1 catalyzes the polyglucosylation of the latter. (Here the addition of four glucose residues is annotated.) (Cameron et al. 2009; Roach et al. 2012).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P13807-1", "P46976-1" ], "evidence": [ { "id": "R-HSA-3322001", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322001" } ] }, { "id": "R-HSA-3322003", "name": "Autoglucosylation of GYG1 complexed with GYS1-b", "equation": "", "summary": "Glycogenin 1 (GYG1) catalyzes its autoglycosylation reaction with UDP-glucose to form oligo (1,4)-alpha-D-glucosyl GYG1 (Moslemi et al. 2010). The oligosaccharide is annotated here as containing four glucose residues. Glycogenin occurs as a homodimer complexed with two molecules of glycogen synthase 1 (GYS1), here in a phosphorylated (b) form (Roach et al. 2012).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P13807-1", "P46976-1" ], "evidence": [ { "id": "R-HSA-3322003", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322003" } ] }, { "id": "R-HSA-3322005", "name": "GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-a", "equation": "", "summary": "Cytosolic glycogen branching enzyme (GBE1) associated with glycogen granules transfers terminal alpha(1,4) glucose blocks to form alpha(1,6) branches on growing glycogen molecules formed on glycogenin 1 (GYG1) complexed with unphosphorylated glycogen synthase 1 (GYS1-a) (Bao et al. 1996; Roach et al. 2012).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P13807-1", "P46976-1", "Q04446-1" ], "evidence": [ { "id": "R-HSA-3322005", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322005" } ] }, { "id": "R-HSA-3322025", "name": "Autoglucosylation of GYG1 complexed with GYS1-a", "equation": "", "summary": "Glycogenin 1 (GYG1) catalyzes its autoglycosylation reaction with UDP-glucose to form oligo (1,4)-alpha-D-glucosyl GYG1 (Moslemi et al. 2010). The oligosaccharide is annotated here as containing four glucose residues. Glycogenin occurs as a homodimer complexed with two molecules of glycogen synthase 1 (GYS1), here in an unphosphorylated (a) form (Roach et al. 2012).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P13807-1", "P46976-1" ], "evidence": [ { "id": "R-HSA-3322025", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322025" } ] }, { "id": "R-HSA-3322041", "name": "Phosphorylated GYS1 catalyzes the polyglucosylation of oligoGlc-GYG1", "equation": "", "summary": "Phosphorylated glycogen synthase 1 (GYS1-b) complexed with oligo-D-glucose-GYG1 catalyzes the polyglucosylation of the latter. (Here the addition of four glucose residues is annotated.) This reaction is allosterically activated by glucose-6-phosphate (G6P) (Cameron et al. 2009; Roach et al. 2012). Glucose-6-phosphate (G6P) activates the phosphorylated (\\b\\) form of GYS1 (\\muscle\\) glycogen synthase (Roach et al. 2012).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P13807-1", "P46976-1" ], "evidence": [ { "id": "R-HSA-3322041", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322041" } ] }, { "id": "R-HSA-3322057", "name": "GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-b", "equation": "", "summary": "Cytosolic glycogen branching enzyme (GBE1) associated with glycogen granules transfers terminal alpha(1,4) glucose blocks to form alpha(1,6) branches on growing glycogen molecules formed on glycogenin 1 (GYG1) complexed with phosphorylated glycogen synthase 1 (GYS1-b) (Bao et al. 1996; Roach et al. 2012).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P13807-1", "P46976-1", "Q04446-1" ], "evidence": [ { "id": "R-HSA-3322057", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322057" } ] }, { "id": "R-HSA-3781001", "name": "EPM2A dimer binds PPP1R3C:phosphoglycogen-GYG1 complex", "equation": "", "summary": "EPM2A (laforin) dimer binds to the PPP1R3C:phosphoglycogen-GYG1 (glycogenin 1) complex, probably through interactions with the PPP1R3C (PTG) and glycogen moieties of the complex (Worby et al. 2008).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P13807-1", "B3EWF7-1", "P46976-1" ], "evidence": [ { "id": "R-HSA-3781001", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3781001" } ] }, { "id": "R-HSA-3781009", "name": "NHLRC1 mediated ubiquitination of EPM2A and PPP1RC3 associated with glycogen-GYG1", "equation": "", "summary": "NHLRC1 (malin) associates with the glycogen particle where it functions as a ubiquitin E3 ligase to mediate the polyubiquitination of EPM2A (laforin) and PPP1R3C (PTG). The two polyubiquitinated proteins are targeted for proteasome-mediated degradation, leaving a glycogen-GYG1 particle associated with GYS1 (Gentry et al. 2005, Worby et al. 2008). In NHLRC1 knockout mice, PPP1R3C levels are unchanged, rather than increased, suggesting that NHLRC1 does not target PPP1R3C for degradation. However, EPM2A protein levels are increased in this knockout consistent with NHLRC1's proposed role (DePaoli-Roach et al. 2010).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P13807-1", "B3EWF7-1", "Q6VVB1-1", "P46976-1" ], "evidence": [ { "id": "R-HSA-3781009", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3781009" } ] }, { "id": "R-HSA-3781018", "name": "EPM2A dimer dephosphorylates phosphoglycogen-GYG1", "equation": "", "summary": "EPM2A (laforin), associated with PPP1R3C (protein phosphatase 1 regulatory subunit 3C, PTG) and phosphoglycogen-GYG1 in a cytosolic glycogen particle, catalyzes the dephosphorylation of phosphoglycogen (Tagliabracci et al. 2007). The catalytically active form of EPM2A has been shown to be a homodimer (Raththagala et al. 2015; Sankhala et al. 2015).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P13807-1", "B3EWF7-1", "P46976-1" ], "evidence": [ { "id": "R-HSA-3781018", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3781018" } ] }, { "id": "R-HSA-3781023", "name": "PPP1R3C binds to glycogen:GYG1:GYS1", "equation": "", "summary": "Protein phosphatase 1 regulatory subunit 3C (PPP1R3C, PTG) binds to glycogen particles containing GYG1 (glycogenin 1) and GYS1 (glycogen synthase 1). PPP1R3C appears to function as a scaffolding protein to mediate association of other proteins with glycogen granules and to promote the synthesis of glycogen (Worby et al. 2008).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P13807-1", "P46976-1" ], "evidence": [ { "id": "R-HSA-3781023", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3781023" } ] }, { "id": "R-HSA-3781024", "name": "GYS1 catalyzes the incorporation of phosphoglucose into glycogen-GYG1", "equation": "", "summary": "Glycogen synthase 1 (GYS1) catalyzes the incorporation of phosphoglucose into the glycogen-GYG1 molecules with which it is associated in a cytosolic glycogen granule. This reaction occurs at a low rate, yielding approximately one molecule of glucose phosphorylated at its C2, C3, or C6 positions incorporated into a growing glycogen polymer per ten thousand glucose molecules incorporated (DePaoli-Roach et al. 2015; Irimia et al. 2015; Nitschke et al. 2013; Tagliabracci et al. 2011). The function of these small amounts of phosphoglucose in normal glycogen remains to be established.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P13807-1", "P46976-1" ], "evidence": [ { "id": "R-HSA-3781024", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3781024" } ] }, { "id": "R-HSA-3791349", "name": "Defective EPM2A does not dephosphorylate phosphoglycogen (type 2A disease)", "equation": "", "summary": "EPM2A (laforin) associated with cytosolic liver- and muscle-form glycogen granules normally catalyzes the hydrolytic removal of the small numbers of phosphate groups incorporated into glycogen (Minassian et al. 1998, Serratosa et al. 1999, Tagliabracci et al. 2011). Defects in EMP2A (laforin) are the cause of the commonest form of Lafora disease. The three missense mutant forms of EPM2A (laforin) annotated here are examples of the disease-associated EPM2A alleles that have been described (Fernandez-Sanchez et al. 2003).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P13807-1", "B3EWF7-1", "P46976-1" ], "evidence": [ { "id": "R-HSA-3791349", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3791349" } ] }, { "id": "R-HSA-3797226", "name": "Defective NHLRC1 does not ubiquitinate EPM2A (laforin) and PPP1R3C (PTG) (type 2B disease)", "equation": "", "summary": "NHLRC1 (malin) mediates the ubiquitination of EPM2A (laforin) and PPP1R3C (PTG) associated with cytosolic liver- and muscle-form glycogen granules (Gentry et al. 2005). Defects in NHLRC1 (malin) are the cause of the second commonest form of Lafora disease (Roma-Mateo et al. 2012). The two missense mutant forms of NHLRC1 (malin) annotated here are examples of the disease-associated NHLRC1 alleles that have been described (Chan et al. 2003).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P13807-1", "B3EWF7-1", "Q6VVB1-1", "P46976-1" ], "evidence": [ { "id": "R-HSA-3797226", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3797226" } ] }, { "id": "R-HSA-3814838", "name": "Defective GYG1 is not autoglucosyolated", "equation": "", "summary": "Muscle glycogen synthesis is normally initiated by the autoglycosylation of glycogenin 1 (GYG1) to form oligo (1,4)-alpha-D-glucosyl GYG1. A missense mutation of GYG1 yields a protein that cannot undergo glucosylation, leading to failure of glycogen synthesis, associated with muscle weakness and other abnormalities (Moslemi et al. 2010).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P13807-1", "P46976-1" ], "evidence": [ { "id": "R-HSA-3814838", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3814838" } ] }, { "id": "R-HSA-3828061", "name": "Defective GYS1 does not transfer glucose to growing glycogen chains", "equation": "", "summary": "Glycogen synthase 1 (GYS1) normally catalyzes the addition of glucose residues to a growing glycogen molecule. In its absence, glycogen synthesis fails. GYS1 (\\muscle\\) is widely expressed in the body and its deficiency is most prominently associated with exercise intolerance and cardiomyopathy (Kolberg et al. 2007; Cameron et al. 2009). Two human GYS1 mutations have been described. The one annotated here is a nonsense mutation (Kolberg et al. 2007); no glycogen is detectable in microscopic studies of skeletal and cardiac muscle from affected individuals. The other is a frame-shift mutation predicted to encode a truncated protein with an abnormal carboxy terminus (Cameron et al. 2009).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P13807-1", "P46976-1" ], "evidence": [ { "id": "R-HSA-3828061", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3828061" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A2RRU1", "gene_name": "Gys1", "activity": [ { "ec_number": "2.4.1.11", "activity": "[(1->4)-alpha-D-glucosyl](n) + UDP-alpha-D-glucose = [(1->4)-alpha-D-glucosyl](n+1) + H(+) + UDP.", "evidence": [ { "id": "A2RRU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A2RRU1" } ] }, { "ec_number": "2.4.1.11", "activity": "", "evidence": [ { "id": "A2RRU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A2RRU1" } ] } ] }, { "uniprot_ac": "B3EWF7", "gene_name": "EPM2A", "activity": [ { "ec_number": "3.1.3.-", "activity": "", "evidence": [ { "id": "B3EWF7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B3EWF7" } ] }, { "ec_number": "3.1.3.16", "activity": "H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate.", "evidence": [ { "id": "B3EWF7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B3EWF7" } ] }, { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "B3EWF7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B3EWF7" } ] }, { "ec_number": "3.1.3.16", "activity": "", "evidence": [ { "id": "B3EWF7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B3EWF7" } ] }, { "ec_number": "3.1.3.48", "activity": "", "evidence": [ { "id": "B3EWF7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B3EWF7" } ] } ] }, { "uniprot_ac": "P13807", "gene_name": "GYS1", "activity": [ { "ec_number": "2.4.1.11", "activity": "[(1->4)-alpha-D-glucosyl](n) + UDP-alpha-D-glucose = [(1->4)-alpha-D-glucosyl](n+1) + H(+) + UDP.", "evidence": [ { "id": "P13807", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13807" } ] }, { "ec_number": "2.4.1.11", "activity": "", "evidence": [ { "id": "P13807", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13807" } ] } ] }, { "uniprot_ac": "P17625", "gene_name": "Gys2", "activity": [ { "ec_number": "2.4.1.11", "activity": "[(1->4)-alpha-D-glucosyl](n) + UDP-alpha-D-glucose = [(1->4)-alpha-D-glucosyl](n+1) + H(+) + UDP.", "evidence": [ { "id": "P17625", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17625" } ] }, { "ec_number": "2.4.1.11", "activity": "", "evidence": [ { "id": "P17625", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17625" } ] } ] }, { "uniprot_ac": "P23337", "gene_name": "GSY1", "activity": [ { "ec_number": "2.4.1.11", "activity": "[(1->4)-alpha-D-glucosyl](n) + UDP-alpha-D-glucose = [(1->4)-alpha-D-glucosyl](n+1) + H(+) + UDP.", "evidence": [ { "id": "P23337", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23337" } ] }, { "ec_number": "2.4.1.11", "activity": "", "evidence": [ { "id": "P23337", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23337" } ] } ] }, { "uniprot_ac": "P27472", "gene_name": "GSY2", "activity": [ { "ec_number": "2.4.1.11", "activity": "[(1->4)-alpha-D-glucosyl](n) + UDP-alpha-D-glucose = [(1->4)-alpha-D-glucosyl](n+1) + H(+) + UDP.", "evidence": [ { "id": "P27472", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27472" } ] }, { "ec_number": "2.4.1.11", "activity": "", "evidence": [ { "id": "P27472", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27472" } ] } ] }, { "uniprot_ac": "P46976", "gene_name": "GYG1", "activity": [ { "ec_number": "2.4.1.186", "activity": "[1,4-alpha-D-glucosyl](n)-L-tyrosyl-[glycogenin] + UDP-alpha-D-glucose = [1,4-alpha-D-glucosyl](n+1)-L-tyrosyl-[glycogenin] + H(+) + UDP.", "evidence": [ { "id": "P46976", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46976" } ] }, { "ec_number": "2.4.1.186", "activity": "", "evidence": [ { "id": "P46976", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46976" } ] } ] }, { "uniprot_ac": "P54840", "gene_name": "GYS2", "activity": [ { "ec_number": "2.4.1.11", "activity": "[(1->4)-alpha-D-glucosyl](n) + UDP-alpha-D-glucose = [(1->4)-alpha-D-glucosyl](n+1) + H(+) + UDP.", "evidence": [ { "id": "P54840", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54840" } ] }, { "ec_number": "2.4.1.11", "activity": "", "evidence": [ { "id": "P54840", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54840" } ] } ] }, { "uniprot_ac": "Q04446", "gene_name": "GBE1", "activity": [ { "ec_number": "2.4.1.18", "activity": "Transfers a segment of a (1->4)-alpha-D-glucan chain to a primary hydroxy group in a similar glucan chain.", "evidence": [ { "id": "Q04446", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04446" } ] }, { "ec_number": "2.4.1.18", "activity": "", "evidence": [ { "id": "Q04446", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04446" } ] } ] }, { "uniprot_ac": "Q55GH4", "gene_name": "glcS", "activity": [ { "ec_number": "2.4.1.11", "activity": "[(1->4)-alpha-D-glucosyl](n) + UDP-alpha-D-glucose = [(1->4)-alpha-D-glucosyl](n+1) + H(+) + UDP.", "evidence": [ { "id": "Q55GH4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55GH4" } ] }, { "ec_number": "2.4.1.11", "activity": "", "evidence": [ { "id": "Q55GH4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55GH4" } ] } ] }, { "uniprot_ac": "Q6VVB1", "gene_name": "NHLRC1", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q6VVB1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6VVB1" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q6VVB1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6VVB1" } ] } ] }, { "uniprot_ac": "Q8VCB3", "gene_name": "Gys2", "activity": [ { "ec_number": "2.4.1.11", "activity": "[(1->4)-alpha-D-glucosyl](n) + UDP-alpha-D-glucose = [(1->4)-alpha-D-glucosyl](n+1) + H(+) + UDP.", "evidence": [ { "id": "Q8VCB3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VCB3" } ] }, { "ec_number": "2.4.1.11", "activity": "", "evidence": [ { "id": "Q8VCB3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VCB3" } ] } ] }, { "uniprot_ac": "Q9VFC8", "gene_name": "Glys", "activity": [ { "ec_number": "2.4.1.11", "activity": "[(1->4)-alpha-D-glucosyl](n) + UDP-alpha-D-glucose = [(1->4)-alpha-D-glucosyl](n+1) + H(+) + UDP.", "evidence": [ { "id": "Q9VFC8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VFC8" } ] }, { "ec_number": "2.4.1.11", "activity": "", "evidence": [ { "id": "Q9VFC8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VFC8" } ] } ] }, { "uniprot_ac": "Q9Z1E4", "gene_name": "Gys1", "activity": [ { "ec_number": "2.4.1.11", "activity": "[(1->4)-alpha-D-glucosyl](n) + UDP-alpha-D-glucose = [(1->4)-alpha-D-glucosyl](n+1) + H(+) + UDP.", "evidence": [ { "id": "Q9Z1E4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Z1E4" } ] }, { "ec_number": "2.4.1.11", "activity": "", "evidence": [ { "id": "Q9Z1E4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Z1E4" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 90 ], "snv_sites": [ 151, 205, 228, 376, 419, 700 ], "glycation_sites": [], "phosphorylation_sites": [ 8, 10, 11, 412, 636, 641, 645, 647, 649, 652, 653, 657, 698, 700, 701, 702, 704, 710, 713, 715, 716, 717, 718, 720, 721, 727, 729, 730, 731 ], "sequon_annotation_sites": [ { "start_pos": 356, "end_pos": 358 }, { "start_pos": 467, "end_pos": 469 }, { "start_pos": 4, "end_pos": 6 }, { "start_pos": 530, "end_pos": 532 }, { "start_pos": 587, "end_pos": 589 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 46 }, { "field": "total_sites", "count": 29 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 59 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }