[ { "uniprot_canonical_ac": "P10253-1", "uniprot_ac": "P10253", "uniprot_id": "LYAG_HUMAN", "mass": { "chemical_mass": 105324.0, "monoisotopic_mass": 105324.0 }, "refseq": { "ac": "NP_000143", "name": "lysosomal alpha-glucosidase preproprotein", "summary": "This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" }, "gene_names": [ { "name": "GAA", "type": "recommended", "evidence": [ { "id": "P10253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10253" } ] }, { "name": "GAA", "type": "synonym", "evidence": [ { "id": "NP_000143", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" } ] }, { "name": "IOPD", "type": "synonym", "evidence": [ { "id": "NP_000143", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" } ] }, { "name": "LOPD", "type": "synonym", "evidence": [ { "id": "NP_000143", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" } ] }, { "name": "LYAG", "type": "synonym", "evidence": [ { "id": "NP_000143", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" } ] } ], "protein_names": [ { "name": "Lysosomal alpha-glucosidase", "type": "recommended", "evidence": [ { "id": "P10253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10253/entry#names_and_taxonomy" } ] }, { "name": "3.2.1.20", "type": "synonym", "evidence": [ { "id": "P10253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10253/entry#names_and_taxonomy" } ] }, { "name": "Acid maltase", "type": "synonym", "evidence": [ { "id": "P10253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10253/entry#names_and_taxonomy" } ] }, { "name": "Aglucosidase alfa", "type": "synonym", "evidence": [ { "id": "P10253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10253/entry#names_and_taxonomy" } ] }, { "name": "acid maltase", "type": "synonym", "evidence": [ { "id": "NP_000143", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" } ] }, { "name": "aglucosidase alfa", "type": "synonym", "evidence": [ { "id": "NP_000143", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" } ] }, { "name": "glucosidase alpha, acid", "type": "synonym", "evidence": [ { "id": "NP_000143", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" } ] }, { "name": "lysosomal alpha-glucosidase preproprotein", "type": "synonym", "evidence": [ { "id": "NP_000143", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" } ] }, { "name": "lysosomal alpha-glucosidase", "type": "synonym", "evidence": [ { "id": "NP_000143", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" } ] } ], "function": [ { "annotation": "Data show that the mature forms of GAA characterized by polypeptides of 76 or 70 kDa are in fact larger molecular mass multicomponent enzyme complexes; peptides released during proteolytic processing remained tightly associated with the major species", "evidence": [ { "database": "RefSeq", "id": "NP_000143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" }, { "database": "PubMed", "id": "15520017", "url": "https://glygen.org/publication/PubMed/15520017" } ] }, { "annotation": "Essential for the degradation of glycogen in lysosomes (PubMed:14695532, PubMed:18429042, PubMed:1856189, PubMed:7717400). Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans (PubMed:29061980).", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253#function" }, { "database": "PubMed", "id": "7717400", "url": "https://glygen.org/publication/PubMed/7717400" }, { "database": "PubMed", "id": "14695532", "url": "https://glygen.org/publication/PubMed/14695532" }, { "database": "PubMed", "id": "18429042", "url": "https://glygen.org/publication/PubMed/18429042" }, { "database": "PubMed", "id": "1856189", "url": "https://glygen.org/publication/PubMed/1856189" }, { "database": "PubMed", "id": "29061980", "url": "https://glygen.org/publication/PubMed/29061980" } ] }, { "annotation": "Essential for the degradation of glycogen in lysosomes. Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans.", "evidence": [ { "database": "UniProtKB", "id": "A0AAQ5BHE5", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHE5#function" }, { "database": "UniProtKB", "id": "ARBA00045686", "url": "https://www.uniprot.org/uniprotkb/ARBA00045686#function" }, { "database": "UniProtKB", "id": "A0AAQ5BHE2", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHE2#function" }, { "database": "UniProtKB", "id": "I3L2V9", "url": "https://www.uniprot.org/uniprotkb/I3L2V9#function" }, { "database": "UniProtKB", "id": "A0AAQ5BHD3", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHD3#function" }, { "database": "UniProtKB", "id": "A0AAQ5BHE1", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHE1#function" } ] }, { "annotation": "Human fecal alpha-glucosidase activity and its relationship with gut microbiota profiles and early stages of intestinal mucosa damage.", "evidence": [ { "database": "RefSeq", "id": "NP_000143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" }, { "database": "PubMed", "id": "38614290", "url": "https://glygen.org/publication/PubMed/38614290" } ] }, { "annotation": "This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_000143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" } ] } ], "disease": [ { "disease_id": "DOID:2752", "recommended_name": { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features." }, "synonyms": [ { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Generalized glycogenosis", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease, type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogenosis, type 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Lysosomal alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Pompe's disease", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "acid maltase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "deficiency of glucoamylase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "deficiency of maltase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Pompe disease", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease due to acid maltase deficiency, infantile onset", "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal." }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "GSD due to acid maltase deficiency, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "GSD type 2, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "GSD type II, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "Pompe disease, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "alpha-1,4-glucosidase acid deficiency, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease type 2, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease type II, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogenosis due to acid maltase deficiency, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogenosis type 2, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogenosis type II, infantile onset", "description": "" }, { "id": "MIM:232300", "resource": "MIM", "url": "https://www.omim.org/entry/232300", "name": "Pompe disease, infantile-onset", "description": "Pompe disease, infantile-onset" } ], "unlinked_id_list": [], "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] }, { "disease_id": "MONDO:0018485", "recommended_name": { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "glycogen storage disease due to acid maltase deficiency, late-onset", "description": "Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." }, "synonyms": [ { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "Alpha-1,4-glucosidase acid deficiency, late onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "Alpha-1,4-glucosidase acid deficiency, late-onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "GSD due to acid maltase deficiency, late onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "GSD due to acid maltase deficiency, late-onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "GSD type 2, late onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "GSD type 2, late-onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "GSD type II, late onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "GSD type II, late-onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "LOPD", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "Pompe disease, late onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "Pompe disease, late-onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "glycogen storage disease type 2, late onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "glycogen storage disease type 2, late-onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "glycogen storage disease type II, late onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "glycogen storage disease type II, late-onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "glycogenosis type 2, late onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "glycogenosis type 2, late-onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "glycogenosis type II, late onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "glycogenosis type II, late-onset", "description": "" }, { "id": "MIM:621314", "resource": "MIM", "url": "https://www.omim.org/entry/621314", "name": "Pompe disease, late-onset", "description": "Pompe disease, late-onset" } ], "unlinked_id_list": [], "evidence": [ { "id": "0018485", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485" }, { "id": "621314", "database": "MIM", "url": "https://www.omim.org/entry/621314" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 516, "end_pos": 516, "sequence_org": "W", "sequence_mut": "R", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" }, { "database": "PubMed", "id": "1856189", "url": "https://glygen.org/publication/PubMed/1856189" } ] }, { "start_pos": 518, "end_pos": 518, "sequence_org": "D", "sequence_mut": "E", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" }, { "database": "PubMed", "id": "1856189", "url": "https://glygen.org/publication/PubMed/1856189" } ] }, { "start_pos": 518, "end_pos": 518, "sequence_org": "D", "sequence_mut": "G", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" }, { "database": "PubMed", "id": "1856189", "url": "https://glygen.org/publication/PubMed/1856189" } ] }, { "start_pos": 518, "end_pos": 518, "sequence_org": "D", "sequence_mut": "N", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" }, { "database": "PubMed", "id": "1856189", "url": "https://glygen.org/publication/PubMed/1856189" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "86.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171298" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "70.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171298" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "79.91", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171298" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "78.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171298" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "95.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171298" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "84.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171298" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "76.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171298" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "86.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171298" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "93.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171298" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "81.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171298" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "87.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171298" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171298" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "94.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171298" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P10253", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10253" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P10253", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10253" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "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", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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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"PTHR22762", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22762", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR22762:SF92", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22762:SF92", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "pdb_00005kzw", "url": "https://www.rcsb.org/structure/pdb_00005kzw", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00005kzx", "url": "https://www.rcsb.org/structure/pdb_00005kzx", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00005nn3", "url": "https://www.rcsb.org/structure/pdb_00005nn3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00005nn4", "url": "https://www.rcsb.org/structure/pdb_00005nn4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00005nn5", "url": "https://www.rcsb.org/structure/pdb_00005nn5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00005nn6", "url": "https://www.rcsb.org/structure/pdb_00005nn6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00005nn8", "url": "https://www.rcsb.org/structure/pdb_00005nn8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00007p2z", "url": "https://www.rcsb.org/structure/pdb_00007p2z", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00007p32", "url": "https://www.rcsb.org/structure/pdb_00007p32", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00008cb1", "url": "https://www.rcsb.org/structure/pdb_00008cb1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00008cb6", "url": "https://www.rcsb.org/structure/pdb_00008cb6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00009gsv", "url": "https://www.rcsb.org/structure/pdb_00009gsv", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00009gsw", "url": "https://www.rcsb.org/structure/pdb_00009gsw", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00009gtc", "url": "https://www.rcsb.org/structure/pdb_00009gtc", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00009gtd", "url": "https://www.rcsb.org/structure/pdb_00009gtd", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00009gtl", "url": "https://www.rcsb.org/structure/pdb_00009gtl", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00009gtn", "url": "https://www.rcsb.org/structure/pdb_00009gtn", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00009gtt", "url": "https://www.rcsb.org/structure/pdb_00009gtt", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00009gtw", "url": "https://www.rcsb.org/structure/pdb_00009gtw", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5KZW", "url": "https://www.rcsb.org/structure/5KZW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5KZX", "url": "https://www.rcsb.org/structure/5KZX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5NN3", "url": "https://www.rcsb.org/structure/5NN3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5NN4", "url": "https://www.rcsb.org/structure/5NN4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5NN5", "url": "https://www.rcsb.org/structure/5NN5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5NN6", "url": "https://www.rcsb.org/structure/5NN6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5NN8", "url": "https://www.rcsb.org/structure/5NN8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7P2Z", "url": "https://www.rcsb.org/structure/7P2Z", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7P32", "url": "https://www.rcsb.org/structure/7P32", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8CB1", "url": "https://www.rcsb.org/structure/8CB1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8CB6", "url": "https://www.rcsb.org/structure/8CB6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "9GSV", "url": "https://www.rcsb.org/structure/9GSV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "9GSW", "url": "https://www.rcsb.org/structure/9GSW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "9GTC", "url": "https://www.rcsb.org/structure/9GTC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "9GTD", "url": "https://www.rcsb.org/structure/9GTD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "9GTL", "url": "https://www.rcsb.org/structure/9GTL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "9GTN", "url": "https://www.rcsb.org/structure/9GTN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "9GTT", "url": "https://www.rcsb.org/structure/9GTT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "9GTW", "url": "https://www.rcsb.org/structure/9GTW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00088", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF00088", "database": "Pfam", "categories": [ "Protein Classification", "Other" ] }, { "id": "PF01055", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF01055", "database": "Pfam", "categories": [ "Protein Classification", "Other" ] }, { "id": "PF13802", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF13802", "database": "Pfam", "categories": [ "Protein Classification", "Other" ] }, { "id": "PF21365", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF21365", "database": "Pfam", "categories": [ "Protein Classification", "Other" ] }, { "id": "P10253", "url": "https://pharos.nih.gov/targets/P10253", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000054736", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054736", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054737", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054737", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054738", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054738", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054739", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054739", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054740", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054740", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054741", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054741", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054742", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054742", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054743", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054743", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054744", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054744", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054745", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054745", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054746", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054746", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054747", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054747", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054748", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054748", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:P10253", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:P10253", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-5357609", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5357609", "database": "Reactome", "categories": [ "Enzyme and Pathway" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Enzyme and Pathway" ] }, { "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221", "database": "Reactome", "categories": [ "Enzyme and Pathway" ] }, { "id": "NP_000143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040", "database": "UniCarbKB", "categories": [] }, { "id": "A0AAG2UWL5", "url": "https://www.uniprot.org/uniprotkb/A0AAG2UWL5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AAG2UWL5-1", "url": "https://www.uniprot.org/uniprotkb/A0AAG2UWL5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AAQ5BHD3", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHD3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AAQ5BHD3-1", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHD3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AAQ5BHE1", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHE1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AAQ5BHE1-1", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHE1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AAQ5BHE2", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHE2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AAQ5BHE2-1", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHE2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AAQ5BHE5", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHE5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AAQ5BHE5-1", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHE5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AAQ5BHG9", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHG9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AAQ5BHG9-1", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHG9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L0S5", "url": "https://www.uniprot.org/uniprotkb/I3L0S5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L0S5-1", "url": "https://www.uniprot.org/uniprotkb/I3L0S5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L2V9", "url": "https://www.uniprot.org/uniprotkb/I3L2V9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L2V9-1", "url": "https://www.uniprot.org/uniprotkb/I3L2V9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L3L3", "url": "https://www.uniprot.org/uniprotkb/I3L3L3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L3L3-1", "url": "https://www.uniprot.org/uniprotkb/I3L3L3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10253-1", "url": "https://www.uniprot.org/uniprotkb/P10253-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPVEALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQPMALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVTVLGVATAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC", "length": 952, "header": "sp|P10253-1|LYAG_HUMAN Isoform 1 of Lysosomal alpha-glucosidase OS=Homo sapiens OX=9606 GN=GAA PE=1 SV=4 CANONICAL=P10253-1" }, "isoforms": [ { "isoform_ac": "A0AAG2UWL5-1", "url": "https://www.uniprot.org/uniprotkb/P10253/entry#A0AAG2UWL5-1", "sequence": { "sequence": "XENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPA", "length": 93, "header": "tr|A0AAG2UWL5-1|A0AAG2UWL5_HUMAN Computationally mapped isoform of Alpha glucosidase OS=Homo sapiens OX=9606 GN=GAA PE=1 SV=3 CANONICAL=P10253-1" }, "locus": { "chromosome": "HG2118_PATCH", "start_pos": 137553, "end_pos": 135708, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000707783.1", "url": "https://www.ensembl.org/id/ENST00000707783.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516983.1", "url": "https://www.ensembl.org/id/ENSP00000516983.1" } ] } }, { "isoform_ac": "A0AAQ5BHD3-1", "url": "https://www.uniprot.org/uniprotkb/P10253/entry#A0AAQ5BHD3-1", "sequence": { "sequence": "MLSTSWTRITLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPVEALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQPMALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVTVLGVATAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC", "length": 645, "header": "tr|A0AAQ5BHD3-1|A0AAQ5BHD3_HUMAN Computationally mapped isoform of Lysosomal alpha-glucosidase OS=Homo sapiens OX=9606 GN=GAA PE=1 SV=1 CANONICAL=P10253-1" }, "locus": { "chromosome": "17", "start_pos": 80119328, "end_pos": 80107666, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000714062.1", "url": "https://www.ensembl.org/id/ENST00000714062.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000519352.1", "url": "https://www.ensembl.org/id/ENSP00000519352.1" } ] } }, { "isoform_ac": "A0AAQ5BHE1-1", "url": "https://www.uniprot.org/uniprotkb/P10253/entry#A0AAQ5BHE1-1", "sequence": { "sequence": "MLSTSWTRITLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPVEALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQPMALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVTVLGVATAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC", "length": 685, "header": "tr|A0AAQ5BHE1-1|A0AAQ5BHE1_HUMAN Computationally mapped isoform of Lysosomal alpha-glucosidase OS=Homo sapiens OX=9606 GN=GAA PE=1 SV=1 CANONICAL=P10253-1" }, "locus": { "chromosome": "17", "start_pos": 80119328, "end_pos": 80107666, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000714054.1", "url": "https://www.ensembl.org/id/ENST00000714054.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000519344.1", "url": "https://www.ensembl.org/id/ENSP00000519344.1" } ] } }, { "isoform_ac": "A0AAQ5BHE2-1", "url": "https://www.uniprot.org/uniprotkb/P10253/entry#A0AAQ5BHE2-1", "sequence": { "sequence": "MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPVEALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQPMALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVLDICVSLLMGEQFLVSWC", "length": 922, "header": "tr|A0AAQ5BHE2-1|A0AAQ5BHE2_HUMAN Computationally mapped isoform of Lysosomal alpha-glucosidase OS=Homo sapiens OX=9606 GN=GAA PE=1 SV=1 CANONICAL=P10253-1" }, "locus": { "chromosome": "17", "start_pos": 80119328, "end_pos": 80104587, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000714055.1", "url": "https://www.ensembl.org/id/ENST00000714055.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000519345.1", "url": "https://www.ensembl.org/id/ENSP00000519345.1" } ] } }, { "isoform_ac": "A0AAQ5BHE5-1", "url": "https://www.uniprot.org/uniprotkb/P10253/entry#A0AAQ5BHE5-1", "sequence": { "sequence": "MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHSLCLIPESSLLPALPCW", "length": 601, "header": "tr|A0AAQ5BHE5-1|A0AAQ5BHE5_HUMAN Computationally mapped isoform of Lysosomal alpha-glucosidase OS=Homo sapiens OX=9606 GN=GAA PE=1 SV=1 CANONICAL=P10253-1" }, "locus": { "chromosome": "17", "start_pos": 80112516, "end_pos": 80104587, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000714056.1", "url": "https://www.ensembl.org/id/ENST00000714056.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000519346.1", "url": "https://www.ensembl.org/id/ENSP00000519346.1" } ] } }, { "isoform_ac": "A0AAQ5BHG9-1", "url": "https://www.uniprot.org/uniprotkb/P10253/entry#A0AAQ5BHG9-1", "sequence": { "sequence": "MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTVGRAGAGAAARAEGARGHRHPRTSQGWGACCTTVCWALAGSGGVSRQWQRPSGSSGDTTVTGTPEGRARGSFIFMKRSKIQLTGATRCPWRPRMSTAGHRPHSTAWSSPRSPSG", "length": 296, "header": "tr|A0AAQ5BHG9-1|A0AAQ5BHG9_HUMAN Computationally mapped isoform of Alpha glucosidase OS=Homo sapiens OX=9606 GN=GAA PE=1 SV=1 CANONICAL=P10253-1" }, "locus": { "chromosome": "17", "start_pos": 80105860, "end_pos": 80104587, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000714061.1", "url": "https://www.ensembl.org/id/ENST00000714061.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000519351.1", "url": "https://www.ensembl.org/id/ENSP00000519351.1" } ] } }, { "isoform_ac": "I3L0S5-1", "url": "https://www.uniprot.org/uniprotkb/P10253/entry#I3L0S5-1", "sequence": { "sequence": "MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPL", "length": 208, "header": "tr|I3L0S5-1|LYAG_HUMAN Computationally mapped isoform of Lysosomal alpha-glucosidase OS=Homo sapiens OX=9606 GN=GAA PE=1 SV=1 CANONICAL=P10253-1" }, "locus": { "chromosome": "HG2118_PATCH", "start_pos": 130532, "end_pos": 129293, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000707780.1", "url": "https://www.ensembl.org/id/ENST00000707780.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516981.1", "url": "https://www.ensembl.org/id/ENSP00000516981.1" } ] } }, { "isoform_ac": "I3L2V9-1", "url": "https://www.uniprot.org/uniprotkb/P10253/entry#I3L2V9-1", "sequence": { "sequence": "MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPA", "length": 630, "header": "tr|I3L2V9-1|I3L2V9_HUMAN Computationally mapped isoform of Lysosomal alpha-glucosidase OS=Homo sapiens OX=9606 GN=GAA PE=1 SV=2 CANONICAL=P10253-1" }, "locus": { "chromosome": "17", "start_pos": 80112846, "end_pos": 80104587, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000572080.2", "url": "https://www.ensembl.org/id/ENST00000572080.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000459972.2", "url": "https://www.ensembl.org/id/ENSP00000459972.2" } ] } }, { "isoform_ac": "I3L3L3-1", "url": "https://www.uniprot.org/uniprotkb/P10253/entry#I3L3L3-1", "sequence": { "sequence": "MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLA", "length": 284, "header": "tr|I3L3L3-1|I3L3L3_HUMAN Computationally mapped isoform of alpha-glucosidase OS=Homo sapiens OX=9606 GN=GAA PE=1 SV=8 CANONICAL=P10253-1" }, "locus": { "chromosome": "17", "start_pos": 80119328, "end_pos": 80104587, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000570803.5", "url": "https://www.ensembl.org/id/ENST00000570803.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000460543.1", "url": "https://www.ensembl.org/id/ENSP00000460543.1" } ] } }, { "isoform_ac": "P10253-1", "url": "https://www.uniprot.org/uniprotkb/P10253/entry#P10253-1", "sequence": { "sequence": "MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPVEALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQPMALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVTVLGVATAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC", "length": 952, "header": "sp|P10253-1|LYAG_HUMAN Isoform 1 of Lysosomal alpha-glucosidase OS=Homo sapiens OX=9606 GN=GAA PE=1 SV=4 CANONICAL=P10253-1" }, "locus": { "chromosome": "17", "start_pos": 80119328, "end_pos": 80104587, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000945488.1", "url": "https://www.ensembl.org/id/ENST00000945488.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000615547.1", "url": "https://www.ensembl.org/id/ENSP00000615547.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked;o-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "high-energy collision-induced dissociation", "icn3d_view": {}, "start_pos": 140, "start_aa": "Asn", "end_pos": 140, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn140", "evidence": [ { "id": "34089345", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34089345" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" }, { "id": "10.1007/s00018-021-03863-1", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1007/s00018-021-03863-1" }, { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G03238UC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LENLSSSEMGYTATLTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 140, "start_aa": "Asn", "end_pos": 140, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn140", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] }, { "glytoucan_ac": "G05049YU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LEnLSSSEMGYTATLTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 140, "start_aa": "Asn", "end_pos": 140, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn140", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 140, "start_aa": "Asn", "end_pos": 140, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn140", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "723", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/723" } ] }, { "glytoucan_ac": "G14343MU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 140, "start_aa": "Asn", "end_pos": 140, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn140", "evidence": [ { "id": "17293352", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17293352" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G14669DU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 140, "start_aa": "Asn", "end_pos": 140, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn140", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "723", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/723" } ] }, { "glytoucan_ac": "G25637MV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 140, "start_aa": "Asn", "end_pos": 140, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn140", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "723", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/723" } ] }, { "glytoucan_ac": "G28681TP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LEnLSSSEMGYTATLTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 140, "start_aa": "Asn", "end_pos": 140, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn140", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G29545VG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LEnLSSSEMGYTATLTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 140, "start_aa": "Asn", "end_pos": 140, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn140", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G30084YQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 140, "start_aa": "Asn", "end_pos": 140, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn140", "evidence": [ { "id": "17293352", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17293352" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } 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Characterization of the catalytic site.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Hermans MM, Kroos MA, van Beeumen J, Oostra BA, Reuser AJ", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "1856189", "url": "https://glygen.org/publication/PubMed/1856189" } ] }, { "title": "Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II.", "journal": "Biochemical and biophysical research communications", "date": "1991", "authors": "Hermans MM, de Graaff E, Kroos MA, Wisselaar HA, Oostra BA, Reuser AJ", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" }, { "database": "dbSNP", "id": "rs121907937", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907937" } ], "reference": [ { "type": "PubMed", "id": "1898413", 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J, Viner R, Mayr M", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "GlyConnect", "id": "723", "url": "https://glyconnect.expasy.org/browser/proteins/723" } ], "reference": [ { "type": "PubMed", "id": "23345538", "url": "https://glygen.org/publication/PubMed/23345538" } ] }, { "title": "The human leukocyte antigen-presented ligandome of B lymphocytes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013-07", "authors": "Hassan Chopie, Kester Michel G D, de Ru Arnoud H, Hombrink Pleun, Drijfhout Jan Wouter, Nijveen Harm, Leunissen Jack A M, Heemskerk Mirjam H M, Falkenburg J H Frederik, van Veelen Peter A", "evidence": [ { "database": "IEDB", "id": "452361", "url": "https://www.iedb.org/epitope/452361" } ], "reference": [ { "type": "PubMed", "id": "23481700", "url": "https://glygen.org/publication/PubMed/23481700" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "Proteome profiling of human neutrophil granule subsets, secretory vesicles, and cell membrane: correlation with transcriptome profiling of neutrophil precursors.", "journal": "Journal of leukocyte biology", "date": "2013", "authors": "Rorvig S, Ostergaard O, Heegaard NH, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": 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Nielsen Morten, Nyg\u00e5rd St\u00e5le, Buus S\u00f8ren, de Souza Gustavo A, Sollid Ludvig M", "evidence": [ { "database": "IEDB", "id": "519348", "url": "https://www.iedb.org/epitope/519348" }, { "database": "IEDB", "id": "523127", "url": "https://www.iedb.org/epitope/523127" }, { "database": "IEDB", "id": "523128", "url": "https://www.iedb.org/epitope/523128" }, { "database": "IEDB", "id": "523129", "url": "https://www.iedb.org/epitope/523129" }, { "database": "IEDB", "id": "525174", "url": "https://www.iedb.org/epitope/525174" }, { "database": "IEDB", "id": "528542", "url": "https://www.iedb.org/epitope/528542" }, { "database": "IEDB", "id": "528543", "url": "https://www.iedb.org/epitope/528543" }, { "database": "IEDB", "id": "528544", "url": "https://www.iedb.org/epitope/528544" }, { "database": "IEDB", "id": "528545", "url": "https://www.iedb.org/epitope/528545" } ], "reference": [ { "type": "PubMed", "id": "25502872", "url": "https://glygen.org/publication/PubMed/25502872" } ] }, { "title": "Naturally processed non-canonical HLA-A*02:01 presented peptides.", "journal": "The Journal of biological chemistry", "date": "2015-01-30", "authors": "Hassan Chopie, Chabrol Eric, Jahn Lorenz, Kester Michel G D, de Ru Arnoud H, Drijfhout Jan W, Rossjohn Jamie, Falkenburg J H Frederik, Heemskerk Mirjam H M, Gras Stephanie, van Veelen Peter A", "evidence": [ { "database": "IEDB", "id": "240688", "url": "https://www.iedb.org/epitope/240688" } ], "reference": [ { "type": "PubMed", "id": "25505266", "url": "https://glygen.org/publication/PubMed/25505266" } ] }, { "title": "Mass spectrometry of human leukocyte antigen class I peptidomes reveals strong effects of protein abundance and turnover on antigen presentation.", "journal": "Molecular & cellular proteomics : MCP", "date": "2015-03", "authors": "Bassani-Sternberg Michal, Pletscher-Frankild Sune, Jensen Lars Juhl, Mann Matthias", "evidence": [ { "database": "IEDB", "id": "478975", "url": "https://www.iedb.org/epitope/478975" 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"https://glygen.org/publication/PubMed/27452731" } ] }, { "title": "Mass spectrometric analysis of the HLA class I peptidome of melanoma cell lines as a promising tool for the identification of putative tumor-associated HLA epitopes.", "journal": "Cancer immunology, immunotherapy : CII", "date": "2016-11", "authors": "Gloger Andreas, Ritz Danilo, Fugmann Tim, Neri Dario", "evidence": [ { "database": "IEDB", "id": "452361", "url": "https://www.iedb.org/epitope/452361" } ], "reference": [ { "type": "PubMed", "id": "27600516", "url": "https://glygen.org/publication/PubMed/27600516" } ] }, { "title": "MHC-I peptides get out of the groove and enable a novel mechanism of HIV-1 escape.", "journal": "Nature structural & molecular biology", "date": "2017-04", "authors": "Pymm Phillip, Illing Patricia T, Ramarathinam Sri H, O'Connor Geraldine M, Hughes Victoria A, Hitchen Corinne, Price David A, Ho Bosco K, McVicar Daniel W, Brooks Andrew G, Purcell Anthony W, Rossjohn Jamie, Vivian Julian P", 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identification.", "journal": "Talanta", "date": "2017", "authors": "Shen B, Zhang W, Shi Z, Tian F, Deng Y, Sun C, Wang G, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P10253", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P10253" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] }, { "title": "Dominant protection from HLA-linked autoimmunity by antigen-specific regulatory T cells.", "journal": "Nature", "date": "2017-05-11", "authors": "Ooi Joshua D, Petersen Jan, Tan Yu H, Huynh Megan, Willett Zoe J, Ramarathinam Sri H, Eggenhuizen Peter J, Loh Khai L, Watson Katherine A, Gan Poh Y, Alikhan Maliha A, Dudek Nadine L, Handel Andreas, Hudson Billy G, Fugger Lars, Power David A, Holt Stephen G, Coates P Toby, Gregersen Jon W, Purcell Anthony W, Holdsworth Stephen R, La Gruta Nicole L, Reid Hugh H, Rossjohn Jamie, Kitching A Richard", "evidence": [ { "database": "IEDB", "id": 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"reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Data-Independent Acquisition of HLA Class I Peptidomes on the Q Exactive Mass Spectrometer Platform.", "journal": "Proteomics", "date": "2017-10", "authors": "Ritz Danilo, Kinzi Jonny, Neri Dario, Fugmann Tim", "evidence": [ { "database": "IEDB", "id": "614025", "url": "https://www.iedb.org/epitope/614025" } ], "reference": [ { "type": "PubMed", "id": "28834231", "url": "https://glygen.org/publication/PubMed/28834231" } ] }, { "title": "Unveiling the Peptide Motifs of HLA-C and HLA-G from Naturally Presented Peptides and Generation of Binding Prediction Matrices.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2017-10-15", "authors": "Di Marco Moreno, Schuster Heiko, Backert Linus, Ghosh Michael, Rammensee Hans-Georg, Stevanovi\u0107 Stefan", "evidence": [ { "database": "IEDB", "id": "698371", "url": "https://www.iedb.org/epitope/698371" 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Method for determining equilibrium constants from initial rate measurements.", "journal": "Biochemistry", "date": "1970", "authors": "Huang CY, Graves DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "5461220", "url": "https://glygen.org/publication/PubMed/5461220" } ] }, { "title": "Glycogenosis type II (acid maltase deficiency).", "journal": "Muscle Nerve", "date": "1995", "authors": "Reuser A J, Kroos M A, Hermans M M, Bijvoet A G, Verbeet M P, Van Diggelen O P, Kleijer W J, Van der Ploeg A T", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "7603530", "url": "https://glygen.org/publication/PubMed/7603530" } ] }, { "title": "Identification of a de novo point mutation resulting in infantile form of Pompe's disease.", "journal": "Biochemical and biophysical research communications", "date": "1995", "authors": "Lin CY, Shieh JJ", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "7695647", "url": "https://glygen.org/publication/PubMed/7695647" } ] }, { "title": "Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.", "journal": "American journal of human genetics", "date": "1995", "authors": "Boerkoel CF, Exelbert R, Nicastri C, Nichols RC, Miller FW, Plotz PH, Raben N", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" }, { "database": "dbSNP", "id": "rs121907940", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907940" }, { "database": "dbSNP", "id": "rs121907939", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907939" } ], "reference": [ { "type": "PubMed", "id": "7717400", "url": 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"7866409", "url": "https://glygen.org/publication/PubMed/7866409" } ] }, { "title": "The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.", "journal": "Human molecular genetics", "date": "1994", "authors": "Hermans MM, De Graaff E, Kroos MA, Mohkamsing S, Eussen BJ, Joosse M, Willemsen R, Kleijer WJ, Oostra BA, Reuser AJ", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" }, { "database": "dbSNP", "id": "rs121907942", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907942" }, { "database": "dbSNP", "id": "rs386834235", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs386834235" } ], "reference": [ { "type": "PubMed", "id": "7881422", "url": "https://glygen.org/publication/PubMed/7881422" } ] }, { "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-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "7902568", "url": "https://glygen.org/publication/PubMed/7902568" } ] }, { "title": "A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).", "journal": "Human molecular genetics", "date": "1994", "authors": "Huie ML, Chen AS, Brooks SS, Grix A, Hirschhorn R", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "7981676", "url": 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Zhonghua Minguo xiao er ke yi xue hui", "date": "1996", "authors": "Lin C Y, Shieh J J", "evidence": [ { "database": "dbSNP", "id": "rs28940868", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28940868" } ], "reference": [ { "type": "PubMed", "id": "8935410", "url": "https://glygen.org/publication/PubMed/8935410" } ] }, { "title": "Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype.", "journal": "Human mutation", "date": "1997", "authors": "Kroos M A, Van der Kraan M, Van Diggelen O P, Kleijer W J, Reuser A J", "evidence": [ { "database": "dbSNP", "id": "rs386834235", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs386834235" } ], "reference": [ { "type": "PubMed", "id": "8990003", "url": "https://glygen.org/publication/PubMed/8990003" } ] }, { "title": "Purification and some properties of a hepatic NADPH-dependent reductase that specifically acts on 1,5-anhydro-D-fructose.", "journal": "Journal of biochemistry", "date": "1998-01", "authors": "Sakuma M, Kametani S, Akanuma H", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "9504428", "url": "https://glygen.org/publication/PubMed/9504428" } ] }, { "title": "Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.", "journal": "Human mutation", "date": "1998", "authors": "Hermans MM, Kroos MA, Smeitink JA, van der Ploeg AT, Kleijer WJ, Reuser AJ", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "9521422", "url": "https://glygen.org/publication/PubMed/9521422" } ] }, { "title": "The African origin of the common mutation in African American patients with glycogen-storage disease type II.", "journal": "American journal of human genetics", "date": "1998-04", "authors": "Becker J A, Vlach J, Raben N, Nagaraju K, Adams E M, Hermans M M, Reuser A J, Brooks S S, Tifft C J, Hirschhorn R, Huie M L, Nicolino M, Plotz P H", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" }, { "database": "dbSNP", "id": "rs121907943", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907943" } ], "reference": [ { "type": "PubMed", "id": "9529346", "url": "https://glygen.org/publication/PubMed/9529346" } ] }, { "title": "Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.", "journal": "Biochemical and biophysical research communications", "date": "1998", "authors": "Huie ML, Tsujino S, Sklower Brooks S, Engel A, Elias E, Bonthron DT, Bessley C, Shanske S, DiMauro S, Goto YI, Hirschhorn R", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "9535769", "url": "https://glygen.org/publication/PubMed/9535769" } ] }, { "title": "Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect.", "journal": "Human mutation", "date": "1998", "authors": "Shieh J J, Lin C Y", "evidence": [ { "database": "dbSNP", "id": "rs28940868", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28940868" } ], "reference": [ { "type": "PubMed", "id": "9554747", "url": "https://glygen.org/publication/PubMed/9554747" } ] }, { "title": "Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene.", "journal": "Clinical genetics", "date": "1998", "authors": "Kroos MA, van Leenen D, Verbiest J, Reuser AJ, Hermans MM", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "9660056", "url": "https://glygen.org/publication/PubMed/9660056" } ] }, { "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-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "9691087", "url": "https://glygen.org/publication/PubMed/9691087" } ] } ], "pathway": [ { "id": "hsa:2548", "name": "", "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:2548", "resource": "KEGG Pathway" }, { "id": "R-HSA-5357609", "name": "", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5357609", "resource": "Reactome", "description": "Glycogen storage disease type II (GAA)" }, { "id": "R-HSA-6798695", "name": "", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "resource": "Reactome", "description": "Neutrophil degranulation" }, { "id": "R-HSA-70221", "name": "", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221", "resource": "Reactome", "description": "Glycogen breakdown (glycogenolysis)" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8M1QKP5-1", "protein_name": "Lysosomal alpha-glucosidase", "gene_name": "gaa", "tax_id": 7955, "organism": "Danio rerio", "sequence": { "sequence": "MAIIRCLNTFAVLTCVLLIIVYEDNTICVAFSPSKERQHSSNISYRIIKAQKYSHNVSTVPRDQCGIAVERRIDCARDRSLSRAECESRGCCYLPLPQSGLRGPPWCFYTVFYPGYKMGPMLPTERGHRAILTRSAPSYLPRDIHTLQLDVMAETQDRLHLTLKDPTSPRYEVPFVKSQSKGHKSMENPLYDVDFQPEPFGFSVRRKSNGRVLLNTTIGPLLFADQYLQLSTSLASSTVSGLGEHYTPITLDLDWSSVSLWNRDMAPHRSANLYGSHPFFLVQEGDGQAHGVFLLNSNAMEVFMQPAPALTWVTIGGILDFFIFLGPSPQSVIQQYQEVIGYPMMPPYWSLGFHLCRWGYTSTNITRTVVQLMRQAKIPLDVQWNDLDYADQRRVFTFDPQRFGDLPQMVEDFHQLGMKYVLILDPGISSASPPGSYKPFDDGLKKGVFINNSTGQILIGKVWPGPTAFPDFTNPTTQDWWMDWIKDFYNKVPVDGLWIDMNEPSNFVQGSVDGCPDSELEKPPYTPGVIGGQLNSGTLCVSAQQYLSNHYNLHNLYGLTEAIATHRALLKVKKTRPFVLSRSSFPGLGRFSAHWTGDVRSDWEQLRFSIPAVLLFGLYGIPLVGADVCGFGGDTNEELCVRWTQLGAFYPFMRNHNDRPNAPQEPYVFSQRAQDAMRMVINLRYSLLPFLYTLFHHAHTSASTVARPLFLQFPTDPDCRSIDRQFLWGSSLLISPVLEQGAVEVMAYLPPGTWYSLHNGQTYYSKGQYIVFPASLDTIIVHVRERSIIPQQAPALTTAISRKNPFTLTVGLSVGNLAKGELFWDDGESLDTFERGDYSYLLFFAEESYVVSKPIKLNGSLDGLVLGEVRVFGVQTPPTAVWANGQKVPDFSYRLDTKVLTVAGLELPMTAKITIQWS", "length": 918 }, "evidence": [ { "id": "HGNC:4065", "url": "https://alliancegenome.org/gene/HGNC:4065#orthology", "database": "AGR" }, { "id": "RGD:735227", "url": "https://alliancegenome.org/gene/RGD:735227#orthology", "database": "AGR" }, { "id": "MGI:95609", "url": "https://alliancegenome.org/gene/MGI:95609#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-070212-2", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-070212-2#orthology", "database": "AGR" } ], "glygen_name": "Zebrafish", "common_name": "Zebrafish" }, { "uniprot_canonical_ac": "A0A8V1ALI6-1", "protein_name": "Lysosomal alpha-glucosidase", "gene_name": "GAA", "tax_id": 9031, "organism": "Gallus gallus", "sequence": { "sequence": "MAMAMAMAALRAVLLALLLRSLPSAGSSADSACAVPPDDRFDCGPERLLARAGCEARGCCYVPAGPGDGGGPPWCFFPRGYRSYRADNVTATAGGYAARLRRVVPSFLPADVGTLRLDVALETESRLRFTLRDPARQRYEVPVATPRVSIRAADLLYGVRLRQDPFGIVVFRQPGGQVLLNTSVAPLFFADQFLQISTSLPSRFISGLGERLTPLILDTAWTKVTLWNRDMAPVPQVNLYGSHPFYLVLEDGGSAHGVFLLNSNAMDVLLQPSPALTWRTTGGILDFYVFLGPDPQSVVRQYLDVVGFPFMPPYWALGFHLCRWGYSSTAATRQAAANMSAGRFPLDVQWNDLDYMDAKRDFTYNKETFRDYPDMVHDFHQRGLHYVMIVDPGISSSGPPGTYRPYDEGLKRGVFIRNATGQPLIGKVWPGPTAFPDFTNPETHEWWHDMVRDFHEQVPFDGMWIDMNEPSNFVEGSQDGCPDNSLEKPPYVPGVFGGRLQAGTICASSQQHLSSHYNLHSLYGLTEAIASHNALLRVRGTRPFVISRSTFAGHGRYAGHWTGDVESSWEQLARSVPEVLLFNLLGVPLVGADICGFVGDTSEELCVRWTQLGAFYPFMRNHNDHGNRPQEPYAFSLAAQDAMRRALRLRYSLLPHLYTLFHRAHVDGDTVARPLFLEFPKDPNTWSVDRQLLWGAGLLITPVLEQGQTKVSGYFPAGTWYSFTGDSTIHSRGQWILLAAPLDTINVHIRAGHILPLQEPGLNTAESRKKGMTVVVALTPDGFARGELYWDDGESWQSFEKGDCTEILFLAARGAVLSQILRAGGHLDGILLEAVTVLGVPSAPQRVLANGVPVEDFSYRSDTQVLRVSVLLPMWEQFVVAWS", "length": 883 }, "evidence": [ { "id": "P10253", "url": "https://omabrowser.org/oma/group/P10253/", "database": "OMA" } ], "glygen_name": "Chicken", "common_name": "Chicken" }, { "uniprot_canonical_ac": "P70699-1", "protein_name": "Lysosomal alpha-glucosidase", "gene_name": "Gaa", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MNIRKPLCSNSVVGACTLISLTTAVILGHLMLRELMLLPQDLHESSSGLWKTYRPHHQEGYKPGPLHIQEQTEQPKEAPTQCDVPPSSRFDCAPDKGISQEQCEARGCCYVPAGQVLKEPQIGQPWCFFPPSYPSYRLENLSSTESGYTATLTRTSPTFFPKDVLTLQLEVLMETDSRLHFKIKDPASKRYEVPLETPRVLSQAPSPLYSVEFSEEPFGVIVRRKLGGRVLLNTTVAPLFFADQFLQLSTSLPSQHITGLGEHLSPLMLSTDWARITLWNRDTPPSQGTNLYGSHPFYLALEDGGLAHGVFLLNSNAMDVILQPSPALTWRSTGGILDVYVFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAIVRQVVENMTRTHFPLDVQWNDLDYMDARRDFTFNQDSFADFPDMVRELHQDGRRYMMIVDPAISSAGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGTTAFPDFTNPETLDWWQDMVSEFHAQVPFDGMWLDMNEPSNFVRGSQQGCPNNELENPPYVPGVVGGILQAATICASSHQFLSTHYNLHNLYGLTEAIASSRALVKTRGTRPFVISRSTFSGHGRYAGHWTGDVRSSWEHLAYSVPDILQFNLLGVPLVGADICGFIGDTSEELCVRWTQLGAFYPFMRNHNDLNSVPQEPYRFSETAQQAMRKAFALRYALLPYLYTLFHRAHVRGDTVARPLFLEFPEDPSTWSVDRQLLWGPALLITPVLEPGKTEVTGYFPKGTWYNMQMVSVDSLGTLPSPSSASSFRSAVQSKGQWLTLEAPLDTINVHLREGYIIPLQGPSLTTTESRKQPMALAVALTASGEADGELFWDDGESLAVLERGAYTLVTFSAKNNTIVNKLVRVTKEGAELQLREVTVLGVATAPTQVLSNGIPVSNFTYSPDNKSLAIPVSLLMGELFQISWS", "length": 953 }, "evidence": [ { "id": "HGNC:4065", "url": "https://alliancegenome.org/gene/HGNC:4065#orthology", "database": "AGR" }, { "id": "RGD:735227", "url": "https://alliancegenome.org/gene/RGD:735227#orthology", "database": "AGR" }, { "id": "MGI:95609", "url": "https://alliancegenome.org/gene/MGI:95609#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-070212-2", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-070212-2#orthology", "database": "AGR" }, { "id": "P10253", "url": "https://omabrowser.org/oma/group/P10253/", "database": "OMA" } ], "glygen_name": "Mouse", "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q6P7A9-1", "protein_name": "Lysosomal alpha-glucosidase", "gene_name": "Gaa", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MNIRKPLCSNSVVGACTLVSLTTAVILGHLMLRELMLLPQDLHESSSGLWKTYRPHHQESYEPAPLHIQEHAEQLRAVPTQCDVTPNSRFDCAPDKGITQEQCEARGCCWVPAGQVLNGPVMGQPWCFFPPSYPSYRLENLSSTESGYTATLTRTSPTFFPKDVLTLQLEVLMETDSRLHFMIKDPTSKRYEVPLETPRVLSQAPSPLYSVEFSEEPFGVIVRRKLGGRVLLNTTVAPLFFADQFLQLSTSLPSQHIAGLGEHLSPLMLSTEWTRITLWNRDVAPSQGVNLYGSHPFYLALEDGGLAHGVFLLNSNAMDVVLQPSPALTWRSTGGILDVYVFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAIVRQVVENMTRTHFPLDVQWNDLDYMDARRDFTFNQDGFADFPDMVHELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPETLDWWQDMVSEFHAQVPFDGMWIDMNEPSNFIRGSQQGCPDNELENPPYVPGVVGGALQAATICASSHQFLSTHYNLHNLYGLTEAIASSRALVKTRGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEHLAYSVPEILQFNLLGVPLVGADICGFQGNTTEELCVRWTQLGAFYPFMRNHNDLNSLPQEPYRFSETAQQAMRKAFTLRYALLPYLYTLFHGAHVKGDTVARPLFLEFPEDPSTWSVDRQLLWGPALLITPVLEPGKTDVTGYFPKGMWYNLQMVPVETLGSLPSSSPASSFRSIVHSKGQWLTLEAPLDTINVHLRAGYIIPLQGPSLTTTESRKQPMALAVALTESGEASGELFWDDGESLGVLERGAYTLVTFSAKNNTIVNKLVHVTKEGGELQLREVTILGVTTAPTQVLSNGISVSNFTYSPDDKSLSIPVSLLMGERFQIDWS", "length": 953 }, "evidence": [ { "id": "HGNC:4065", "url": "https://alliancegenome.org/gene/HGNC:4065#orthology", "database": "AGR" }, { "id": "RGD:735227", "url": "https://alliancegenome.org/gene/RGD:735227#orthology", "database": "AGR" }, { "id": "MGI:95609", "url": "https://alliancegenome.org/gene/MGI:95609#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-070212-2", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-070212-2#orthology", "database": "AGR" }, { "id": "P10253", "url": "https://omabrowser.org/oma/group/P10253/", "database": "OMA" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9LYF8-1", "protein_name": "Maltase", "gene_name": "AGLU1", "tax_id": 3702, "organism": "Arabidopsis thaliana", "sequence": { "sequence": "MSSLHWFPNIFIVVVVFFSLRSSQVVLEEEESTVVGYGYVVRSVGVDSNRQVLTAKLDLIKPSSVYAPDIKSLNLHVSLETSERLRIRITDSSQQRWEIPETVIPRAGNHSPRRFSTEEDGGNSPENNFLADPSSDLVFTLHNTTPFGFSVSRRSSGDILFDTSPDSSDSNTYFIFKDQFLQLSSALPENRSNLYGIGEHTKRSFRLIPGETMTLWNADIGSENPDVNLYGSHPFYMDVRGSKGNEEAGTTHGVLLLNSNGMDVKYEGHRITYNVIGGVIDLYVFAGPSPEMVMNQYTELIGRPAPMPYWSFGFHQCRYGYKNVSDLEYVVDGYAKAGIPLEVMWTDIDYMDGYKDFTLDPVNFPEDKMQSFVDTLHKNGQKYVLILDPGIGVDSSYGTYNRGMEADVFIKRNGEPYLGEVWPGKVYFPDFLNPAAATFWSNEIKMFQEILPLDGLWIDMNELSNFITSPLSSGSSLDDPPYKINNSGDKRPINNKTVPATSIHFGNISEYDAHNLYGLLEAKATHQAVVDITGKRPFILSRSTFVSSGKYTAHWTGDNAAKWEDLAYSIPGILNFGLFGIPMVGADICGFSHDTTEELCRRWIQLGAFYPFARDHSSLGTARQELYLWDSVASSARKVLGLRMRLLPHLYTLMYEAHVSGNPIARPLFFSFPQDTKTYEIDSQFLIGKSIMVSPALKQGAVAVDAYFPAGNWFDLFNYSFAVGGDSGKHVRLDTPADHVNVHVREGSIVAMQGEALTTRDARKTPYQLLVVASRLENISGELFLDDGENLRMGAGGGNRDWTLVKFRCYVTGKSVVLRSEVVNPEYASKMKWSIGKVTFVGFENVENVKTYEVRTSERLRSPRISLIKTVSDNDDPRFLSVEVSKLSLLVGKKFEMRLRLT", "length": 902 }, "evidence": [ { "id": "P10253", "url": "https://omabrowser.org/oma/group/P10253/", "database": "OMA" } ], "glygen_name": "Arabidopsis", "common_name": "Mouse-ear cress" }, { "uniprot_canonical_ac": "Q9MYM4-1", "protein_name": "Lysosomal alpha-glucosidase", "gene_name": "GAA", "tax_id": 9913, "organism": "Bos taurus", "sequence": { "sequence": "MMRWPPCSRPLLGVCTLLSLALLGHILLHDLEVVPRELRGFSQDEIHQACQPGASSPECRGSPRAAPTQCDLPPNSRFDCAPDKGITPQQCEARGCCYMPAEWPPDAQMGQPWCFFPPSYPSYRLENLTTTETGYTATLTRAVPTFFPKDIMTLRLDMLMETESRLHFTIKDPANRRYEVPLETPRVYSQAPFTLYSVEFSEEPFGVVVRRKLDGRVLLNTTVAPLFFADQFLQLSTSLPSQHITGLAEHLGSLMLSTNWTKITLWNRDIAPEPNVNLYGSHPFYLVLEDGGLAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSTSAITRQVVENMTRAYFPLDVQWNDLDYMDARRDFTFNKDHFGDFPAMVQELHQGGRRYIMIVDPAISSSGPAGTYRPYDEGLRRGVFITNETGQPLIGQVWPGLTAFPDFTNPETLDWWQDMVTEFHAQVPFDGMWIDMNEPSNFVRGSVDGCPDNSLENPPYLPGVVGGTLRAATICASSHQFLSTHYDLHNLYGLTEALASHRALVKARGMRPFVISRSTFAGHGRYSGHWTGDVWSNWEQLSYSVPEILLFNLLGVPLVGADICGFLGNTSEELCVRWTQLGAFYPFMRNHNALNSQPQEPYRFSETAQQAMRKAFTLRYVLLPYLYTLFHRAHVRGETVARPLFLEFPEDPSTWTVDRQLLWGEALLITPVLEAEKVEVTGYFPQGTWYDLQTVPMEAFGSLPPPAPLTSVIHSKGQWVTLSAPLDTINVHLRAGHIIPMQGPALTTTESRKQHMALAVALTASGEAQGELFWDDGESLGVLDGGDYTQLIFLAKNNTFVNKLVHVSSEGASLQLRNVTVLGVATAPQQVLCNSVPVSNFTFSPDTETLAIPVSLTMGEQFVISWS", "length": 937 }, "evidence": [ { "id": "P10253", "url": "https://omabrowser.org/oma/group/P10253/", "database": "OMA" } ], "glygen_name": "Bovine", "common_name": "Bovine" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "alpha-1,4-glucosidase activity", "id": "GO:0004558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004558", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "pmid": "" }, { "name": "alpha-glucosidase activity", "id": "GO:0090599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090599", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "pmid": "" }, { "name": "glucan 1,6-alpha-glucosidase activity", "id": "GO:0043896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043896", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "pmid": "" }, { "name": "hydrolase activity, hydrolyzing O-glycosyl compounds", "id": "GO:0004553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004553", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 11, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "pmid": "" }, { "name": "tertiary granule membrane", "id": "GO:0070821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070821", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "pmid": "" }, { "name": "ficolin-1-rich granule membrane", "id": "GO:0101003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0101003", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "pmid": "" }, { "name": "azurophil granule membrane", "id": "GO:0035577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035577", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "pmid": "" }, { "name": "lysosomal lumen", "id": "GO:0043202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043202", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "pmid": "" }, { "name": "autolysosome lumen", "id": "GO:0120282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120282", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 9, "go_terms": [ { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "pmid": "" }, { "name": "glycophagy", "id": "GO:0061723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061723", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "pmid": "" }, { "name": "maltose metabolic process", "id": "GO:0000023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000023", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "pmid": "" }, { "name": "diaphragm contraction", "id": "GO:0002086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002086", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "pmid": "" }, { "name": "sucrose metabolic process", "id": "GO:0005985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005985", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "pmid": "" }, { "name": "glycogen catabolic process", "id": "GO:0005980", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005980", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "pmid": "" }, { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "pmid": "" }, { "name": "disaccharide metabolic process", "id": "GO:0005984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005984", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "lysosomal alpha-glucosidase N-glycosylated 1 (human)", "definition": "A lysosomal alpha-glucosidase (human) that has been N-glycosylated at the residue equivalent to Asn-140 of the amino acid sequence represented by UniProtKB:P10253-1, in which the glycan structure is represented by GlyTouCan:G14343MU. Example: UniProtKB:P10253-1, Asn-140, MOD:00160~GNO:G14343MU. [PRO:DNx, PMID:17293352]", "evidence": [ { "id": "PR:000054736", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054736" } ] }, { "name": "lysosomal alpha-glucosidase N-glycosylated 2 (human)", "definition": "A lysosomal alpha-glucosidase (human) that has been N-glycosylated at the residue equivalent to Asn-140 of the amino acid sequence represented by UniProtKB:P10253-1, in which the glycan structure is represented by GlyTouCan:G30084YQ. Example: UniProtKB:P10253-1, Asn-140, MOD:00160~GNO:G30084YQ. [PRO:DNx, PMID:17293352]", "evidence": [ { "id": "PR:000054737", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054737" } ] }, { "name": "lysosomal alpha-glucosidase N-glycosylated 3 (human)", "definition": "A lysosomal alpha-glucosidase (human) that has been N-glycosylated at the residue equivalent to Asn-233 of the amino acid sequence represented by UniProtKB:P10253-1, in which the glycan structure is represented by GlyTouCan:G36437LH. Example: UniProtKB:P10253-1, Asn-233, MOD:00160~GNO:G36437LH. [PRO:DNx, PMID:17293352]", "evidence": [ { "id": "PR:000054738", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054738" } ] }, { "name": "lysosomal alpha-glucosidase N-glycosylated 4 (human)", "definition": "A lysosomal alpha-glucosidase (human) that has been N-glycosylated at the residue equivalent to Asn-233 of the amino acid sequence represented by UniProtKB:P10253-1, in which the glycan structure is represented by GlyTouCan:G93993PD. Example: UniProtKB:P10253-1, Asn-233, MOD:00160~GNO:G93993PD. [PRO:DNx, PMID:17293352]", "evidence": [ { "id": "PR:000054739", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054739" } ] }, { "name": "lysosomal alpha-glucosidase N-glycosylated 5 (human)", "definition": "A lysosomal alpha-glucosidase (human) that has been N-glycosylated at the residue equivalent to Asn-390 of the amino acid sequence represented by UniProtKB:P10253-1, in which the glycan structure is represented by GlyTouCan:G55220VL. Example: UniProtKB:P10253-1, Asn-390, MOD:00160~GNO:G55220VL. [PRO:DNx, PMID:17293352]", "evidence": [ { "id": "PR:000054740", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054740" } ] }, { "name": "lysosomal alpha-glucosidase N-glycosylated 6 (human)", "definition": "A lysosomal alpha-glucosidase (human) that has been N-glycosylated at the residue equivalent to Asn-390 of the amino acid sequence represented by UniProtKB:P10253-1, in which the glycan composition is represented by GlyTouCan:G57317CE. Example: UniProtKB:P10253-1, Asn-390, MOD:00160~GNO:G57317CE. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000054741", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054741" } ] }, { "name": "lysosomal alpha-glucosidase N-glycosylated 7 (human)", "definition": "A lysosomal alpha-glucosidase (human) that has been N-glycosylated at the residue equivalent to Asn-470 of the amino acid sequence represented by UniProtKB:P10253-1, in which the glycan structure is represented by GlyTouCan:G36437LH. Example: UniProtKB:P10253-1, Asn-470, MOD:00160~GNO:G36437LH. [PRO:DNx, PMID:17293352]", "evidence": [ { "id": "PR:000054742", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054742" } ] }, { "name": "lysosomal alpha-glucosidase N-glycosylated 8 (human)", "definition": "A lysosomal alpha-glucosidase (human) that has been N-glycosylated at the residue equivalent to Asn-470 of the amino acid sequence represented by UniProtKB:P10253-1, in which the glycan structure is represented by GlyTouCan:G48213MO. Example: UniProtKB:P10253-1, Asn-470, MOD:00160~GNO:G48213MO. [PRO:DNx, PMID:17293352]", "evidence": [ { "id": "PR:000054743", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054743" } ] }, { "name": "lysosomal alpha-glucosidase N-glycosylated 9 (human)", "definition": "A lysosomal alpha-glucosidase (human) that has been N-glycosylated at the residue equivalent to Asn-470 of the amino acid sequence represented by UniProtKB:P10253-1, in which the glycan structure is represented by GlyTouCan:G55220VL. Example: UniProtKB:P10253-1, Asn-470, MOD:00160~GNO:G55220VL. [PRO:DNx, PMID:17293352]", "evidence": [ { "id": "PR:000054744", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054744" } ] }, { "name": "lysosomal alpha-glucosidase N-glycosylated 10 (human)", "definition": "A lysosomal alpha-glucosidase (human) that has been N-glycosylated at the residue equivalent to Asn-652 of the amino acid sequence represented by UniProtKB:P10253-1, in which the glycan structure is represented by GlyTouCan:G10300DY. Example: UniProtKB:P10253-1, Asn-652, MOD:00160~GNO:G10300DY. [PRO:DNx, PMID:17293352]", "evidence": [ { "id": "PR:000054745", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054745" } ] }, { "name": "lysosomal alpha-glucosidase N-glycosylated 11 (human)", "definition": "A lysosomal alpha-glucosidase (human) that has been N-glycosylated at the residue equivalent to Asn-652 of the amino acid sequence represented by UniProtKB:P10253-1, in which the glycan structure is represented by GlyTouCan:G55220VL. Example: UniProtKB:P10253-1, Asn-652, MOD:00160~GNO:G55220VL. [PRO:DNx, PMID:17293352]", "evidence": [ { "id": "PR:000054746", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054746" } ] }, { "name": "lysosomal alpha-glucosidase N-glycosylated 12 (human)", "definition": "A lysosomal alpha-glucosidase (human) that has been N-glycosylated at the residue equivalent to Asn-652 of the amino acid sequence represented by UniProtKB:P10253-1, in which the glycan structure is represented by GlyTouCan:G84852GW. Example: UniProtKB:P10253-1, Asn-652, MOD:00160~GNO:G84852GW. [PRO:DNx, PMID:17293352]", "evidence": [ { "id": "PR:000054747", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054747" } ] }, { "name": "lysosomal alpha-glucosidase N-glycosylated 13 (human)", "definition": "A lysosomal alpha-glucosidase (human) that has been N-glycosylated at the residue equivalent to Asn-882 of the amino acid sequence represented by UniProtKB:P10253-1, in which the glycan composition is represented by GlyTouCan:G92050GC. Example: UniProtKB:P10253-1, Asn-882, MOD:00160~GNO:G92050GC. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000054748", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054748" } ] } ], "site_annotation": [ { "start_pos": 140, "end_pos": 142, "annotation": "n_glycosylation_sequon" }, { "start_pos": 233, "end_pos": 235, "annotation": "n_glycosylation_sequon" }, { "start_pos": 390, "end_pos": 392, "annotation": "n_glycosylation_sequon" }, { "start_pos": 470, "end_pos": 472, "annotation": "n_glycosylation_sequon" }, { "start_pos": 652, "end_pos": 654, "annotation": "n_glycosylation_sequon" }, { "start_pos": 882, "end_pos": 884, "annotation": "n_glycosylation_sequon" }, { "start_pos": 925, "end_pos": 927, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "The different forms of acid glucosidase are obtained by proteolytic processing.", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" }, { "database": "PubMed", "id": "3049072", "url": "https://glygen.org/publication/PubMed/3049072" } ] } ], "interactions": [], "reactions": [ { "id": "R-HSA-6798739", "name": "Exocytosis of azurophil granule membrane proteins", "equation": "", "summary": "Azurophil or primary granules were originally defined by their high content of myeloperoxidase (MPO) and their affinity for the basic dye azure A (Spicer & Hardin 1969). Azurophil granules are generally described as spherical. Like lysosomes, they contain CD63 in their membrane (Cham et al. 1994) but are regarded as specialized secretory granules rather than lysosomes (Cieutat et al. 1998). Azurophil granules undergo limited exocytosis in response to stimulation (Sengelov et al. 1993, Faurschou et al. 2002), their primary role is believed to be killing and degradation of engulfed microbes in the phagolysosome (Joiner et al. 1989).", "cellular_location": "plasma membrane, azurophil granule membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P51148-1", "P42785-1", "P61224-1", "O95716-1", "Q7Z6P3-1", "P49768-1", "Q86UQ4-1", "Q9Y2Q0-1", "Q9Y2G3-1", "P10253-1", "P15291-1", "O95497-1", "Q8NF37-1", "O00462-1", "P10620-1", "Q96AX2-1", "P15309-1" ], "evidence": [ { "id": "R-HSA-6798739", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798739" } ] }, { "id": "R-HSA-6798747", "name": "Exocytosis of tertiary granule membrane proteins", "equation": "", "summary": "Tertiary (gelatinase) granules are part of a continuum of peroxidase-negative granules formed in myelocytes, metamyelocytes, band cells and segmented neutrophils. They differ from secondary granules by having a low content of antimicrobial substances, and are more readily exocytosed (Sengelov et al. 1995). Tertiary granules are primarily a reservoir of extracellular matrix degrading enzymes and membrane receptors that are required for neutrophil extravasation and diapedesis (Faurschou & Borregaard 2003).", "cellular_location": "plasma membrane, tertiary granule membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P01111-1", "Q13393-1", "Q9Y3L5-1", "P61225-1", "O43451-2", "P00749-1", "O14672-1", "P78325-1", "Q8TF62-1", "P98196-1", "P61106-1", "Q13303-1", "P10253-1", "Q5T4S7-1", "P04839-1", "Q68CP4-1", "P23467-1" ], "evidence": [ { "id": "R-HSA-6798747", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798747" } ] }, { "id": "R-HSA-6800426", "name": "Exocytosis of ficolin-rich granule membrane proteins", "equation": "", "summary": "Ficoli-1 rich granules are a relatively new fourth neutrophil granule population that is enriched in the microbial lectin ficolin-1. Ficolin-1 is present in tertiary granules, but ficolin-1 rich granules can be differentiated by having low levels of gelatinases and an elevated exocytosis propensity (Rorvig et al. 2009, 2013). The importance of these granules may be to provide rapid release of pattern recognition molecules to activate the lectin complement pathway (Rorvig et al. 2009).", "cellular_location": "plasma membrane, ficolin-1-rich granule membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P42785-1", "O43451-2", "P78325-1", "P63000-1", "P61586-1", "P10253-1", "Q5T4S7-1", "Q9Y6X5-1", "Q92932-1" ], "evidence": [ { "id": "R-HSA-6800426", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6800426" } ] }, { "id": "R-HSA-9036727", "name": "GAA hydrolyzes lysosomal glycogen", "equation": "", "summary": "While most glycogen is cytosolic, glycogen granules are also found in lysosomes, which they are thought to enter by autophagy. Once in lysosomes, the polysaccharide component of the granules is degraded by a single enzyme, lysosomal alpha-glucosidase (GAA), which hydrolyzes both alpha(1,4) and alpha(1,6) linkages to yield free glucose (Brown et al. 1970). The fate of the glycogenin protein component of the granules has not been studied; it is thought to be degraded by the diverse lysosomal proteases (Muller et al. 2012).
Mutations that reduce the activity of GAA are associated with glycogen storage disease type II (Pompe disease) (Hirschhorn & Reuser 2001; Leslie & Tinkle). The most active forms of GAA are 70 and 76 kDa polypeptides generated by removal of both aminoterminal and carboxyterminal fragments (Brown et al. 1970; Hoefsloot et al. 1988; Wisselaar et al. 1993).", "cellular_location": "lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P10253-1", "P46976-1" ], "evidence": [ { "id": "R-HSA-9036727", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9036727" } ] }, { "id": "R-HSA-9036729", "name": "Defective GAA does not hydrolyze lysosomal glycogen", "equation": "", "summary": "Normally, lysosomal alpha-glucosidase (GAA) catalyzes the hydrolysis of alpha(1,4) and alpha(1,6) linkages in glycogen, yielding free glucose and shortened glycogen polymers. A wide variety of GAA mutations reduce or eliminate this catalytic activity, leading to glycogen accumulation in lysosomes. The two missense mutant alleles annotated here encode GAA variants with little or no activity and are associated with the infantile form of the disease (early onset with multiple tissues involved) (Brown et al. 1970; Hermans et al. 1991; Zhong et al. 1991). The defect primarily affects skeletal and cardiac muscle, so the disease event is annotated here as a failure of processing of the muscle (GYG1) form of glycogen.", "cellular_location": "lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P10253-1", "P46976-1" ], "evidence": [ { "id": "R-HSA-9036729", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9036729" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "O00462", "gene_name": "MANBA", "activity": [ { "ec_number": "3.2.1.25", "activity": "Hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D-mannosides.", "evidence": [ { "id": "O00462", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O00462" } ] }, { "ec_number": "3.2.1.25", "activity": "", "evidence": [ { "id": "O00462", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O00462" } ] } ] }, { "uniprot_ac": "O14672", "gene_name": "ADAM10", "activity": [ { "ec_number": "3.4.24.81", "activity": "Endopeptidase of broad specificity.", "evidence": [ { "id": "O14672", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O14672" } ] }, { "ec_number": "3.4.24.81", "activity": "", "evidence": [ { "id": "O14672", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O14672" } ] } ] }, { "uniprot_ac": "O43451", "gene_name": "MGAM", "activity": [ { "ec_number": "3.2.1.20", "activity": "Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of alpha-D-glucose.", "evidence": [ { "id": "O43451", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O43451" } ] } ] }, { "uniprot_ac": "O95497", "gene_name": "VNN1", "activity": [ { "ec_number": "3.5.1.92", "activity": "(R)-pantetheine + H2O = cysteamine + (R)-pantothenate.", "evidence": [ { "id": "O95497", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O95497" } ] }, { "ec_number": "3.5.1.92", "activity": "", "evidence": [ { "id": "O95497", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O95497" } ] } ] }, { "uniprot_ac": "O95716", "gene_name": "RAB3D", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + phosphate + H(+).", "evidence": [ { "id": "O95716", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O95716" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "O95716", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O95716" } ] } ] }, { "uniprot_ac": "P00749", "gene_name": "PLAU", "activity": [ { "ec_number": "3.4.21.73", "activity": "Specific cleavage of Arg-|-Val bond in plasminogen to form plasmin.", "evidence": [ { "id": "P00749", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P00749" } ] }, { "ec_number": "3.4.21.73", "activity": "", "evidence": [ { "id": "P00749", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P00749" } ] } ] }, { "uniprot_ac": "P01111", "gene_name": "NRAS", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + phosphate + H(+).", "evidence": [ { "id": "P01111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P01111" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P01111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P01111" } ] } ] }, { "uniprot_ac": "P04839", "gene_name": "CYBB", "activity": [ { "ec_number": "1.6.3.-", "activity": "", "evidence": [ { "id": "P04839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P04839" } ] } ] }, { "uniprot_ac": "P10253", "gene_name": "GAA", "activity": [ { "ec_number": "3.2.1.20", "activity": "Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of alpha-D-glucose.", "evidence": [ { "id": "P10253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10253" } ] }, { "ec_number": "3.2.1.20", "activity": "", "evidence": [ { "id": "P10253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10253" } ] } ] }, { "uniprot_ac": "P10620", "gene_name": "MGST1", "activity": [ { "ec_number": "2.5.1.18", "activity": "RX + glutathione = an S-substituted glutathione + a halide anion + H(+).", "evidence": [ { "id": "P10620", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10620" } ] }, { "ec_number": "2.5.1.18", "activity": "", "evidence": [ { "id": "P10620", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10620" } ] } ] }, { "uniprot_ac": "P15291", "gene_name": "B4GALT1", "activity": [ { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P15291" } ] }, { "ec_number": "2.4.1.275", "activity": "a beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + UDP-alpha-D-galactose = a neolactoside nLc4Cer(d18:1(4E)) + UDP + H(+).", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P15291" } ] }, { "ec_number": "2.4.1.22", "activity": "D-glucose + UDP-alpha-D-galactose = lactose + UDP + H(+).", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P15291" } ] }, { "ec_number": "2.4.1.38", "activity": "an N-acetyl-beta-D-glucosaminyl derivative + UDP-alpha-D-galactose = a beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + UDP + H(+).", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P15291" } ] }, { "ec_number": "2.4.1.90", "activity": "N-acetyl-D-glucosamine + UDP-alpha-D-galactose = beta-D-galactosyl-(1->4)-N-acetyl-D-glucosamine + UDP + H(+).", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P15291" } ] } ] }, { "uniprot_ac": "P15309", "gene_name": "ACP3", "activity": [ { "ec_number": "3.1.3.5", "activity": "a ribonucleoside 5'-phosphate + H2O = a ribonucleoside + phosphate.", "evidence": [ { "id": "P15309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P15309" } ] }, { "ec_number": "3.1.3.2", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P15309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P15309" } ] }, { "ec_number": "3.1.3.48", "activity": "O-phospho-L-tyrosyl-[protein] + H2O = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "P15309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P15309" } ] }, { "ec_number": "3.1.3.2", "activity": "", "evidence": [ { "id": "P15309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P15309" } ] } ] }, { "uniprot_ac": "P23467", "gene_name": "PTPRB", "activity": [ { "ec_number": "3.1.3.48", "activity": "O-phospho-L-tyrosyl-[protein] + H2O = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "P23467", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P23467" } ] }, { "ec_number": "3.1.3.48", "activity": "", "evidence": [ { "id": "P23467", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P23467" } ] } ] }, { "uniprot_ac": "P42785", "gene_name": "PRCP", "activity": [ { "ec_number": "3.4.16.2", "activity": "Cleavage of a -Pro-|-Xaa bond to release a C-terminal amino acid.", "evidence": [ { "id": "P42785", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P42785" } ] }, { "ec_number": "3.4.16.2", "activity": "", "evidence": [ { "id": "P42785", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P42785" } ] } ] }, { "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] + UDP + H(+).", "evidence": [ { "id": "P46976", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P46976" } ] }, { "ec_number": "2.4.1.186", "activity": "", "evidence": [ { "id": "P46976", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P46976" } ] } ] }, { "uniprot_ac": "P49768", "gene_name": "PSEN1", "activity": [ { "ec_number": "3.4.23.-", "activity": "", "evidence": [ { "id": "P49768", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P49768" } ] } ] }, { "uniprot_ac": "P51148", "gene_name": "RAB5C", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + phosphate + H(+).", "evidence": [ { "id": "P51148", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P51148" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P51148", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P51148" } ] } ] }, { "uniprot_ac": "P61106", "gene_name": "RAB14", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + phosphate + H(+).", "evidence": [ { "id": "P61106", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P61106" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61106", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P61106" } ] } ] }, { "uniprot_ac": "P61224", "gene_name": "RAP1B", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + phosphate + H(+).", "evidence": [ { "id": "P61224", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P61224" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61224", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P61224" } ] } ] }, { "uniprot_ac": "P61225", "gene_name": "RAP2B", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + phosphate + H(+).", "evidence": [ { "id": "P61225", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P61225" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61225", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P61225" } ] } ] }, { "uniprot_ac": "P61586", "gene_name": "RHOA", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + phosphate + H(+).", "evidence": [ { "id": "P61586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P61586" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P61586" } ] } ] }, { "uniprot_ac": "P63000", "gene_name": "RAC1", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + phosphate + H(+).", "evidence": [ { "id": "P63000", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P63000" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P63000", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P63000" } ] } ] }, { "uniprot_ac": "P78325", "gene_name": "ADAM8", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "P78325", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P78325" } ] } ] }, { "uniprot_ac": "P98196", "gene_name": "ATP11A", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "P98196", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P98196" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "P98196", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P98196" } ] } ] }, { "uniprot_ac": "Q13303", "gene_name": "KCNAB2", "activity": [ { "ec_number": "1.1.1.-", "activity": "", "evidence": [ { "id": "Q13303", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q13303" } ] } ] }, { "uniprot_ac": "Q13393", "gene_name": "PLD1", "activity": [ { "ec_number": "3.1.4.4", "activity": "a 1-O-(1Z-alkenyl)-2-acyl-sn-glycero-3-phosphoethanolamine + H2O = 1-O-(1Z-alkenyl)-2-acyl-sn-glycero-3-phosphate + ethanolamine + H(+).", "evidence": [ { "id": "Q13393", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q13393" } ] }, { "ec_number": "3.1.4.4", "activity": "", "evidence": [ { "id": "Q13393", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q13393" } ] } ] }, { "uniprot_ac": "Q5T4S7", "gene_name": "UBR4", "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": "Q5T4S7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q5T4S7" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q5T4S7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q5T4S7" } ] } ] }, { "uniprot_ac": "Q68CP4", "gene_name": "HGSNAT", "activity": [ { "ec_number": "2.3.1.78", "activity": "alpha-D-glucosaminyl-[heparan sulfate](n) + acetyl-CoA = N-acetyl-alpha-D-glucosaminyl-[heparan sulfate](n) + CoA + H(+).", "evidence": [ { "id": "Q68CP4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q68CP4" } ] }, { "ec_number": "2.3.1.78", "activity": "", "evidence": [ { "id": "Q68CP4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q68CP4" } ] } ] }, { "uniprot_ac": "Q7Z6P3", "gene_name": "RAB44", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + phosphate + H(+).", "evidence": [ { "id": "Q7Z6P3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q7Z6P3" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "Q7Z6P3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q7Z6P3" } ] } ] }, { "uniprot_ac": "Q86UQ4", "gene_name": "ABCA13", "activity": [ { "ec_number": "7.6.2.-", "activity": "", "evidence": [ { "id": "Q86UQ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q86UQ4" } ] } ] }, { "uniprot_ac": "Q8NF37", "gene_name": "LPCAT1", "activity": [ { "ec_number": "2.3.1.51", "activity": "a 1-acyl-sn-glycero-3-phosphate + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphate + CoA.", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8NF37" } ] }, { "ec_number": "2.3.1.23", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphocholine + CoA.", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8NF37" } ] }, { "ec_number": "2.3.1.67", "activity": "a 1-O-alkyl-sn-glycero-3-phosphocholine + acetyl-CoA = a 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine + CoA.", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8NF37" } ] }, { "ec_number": "2.3.1.25", "activity": "a 1-O-(1Z-alkenyl)-sn-glycero-3-phosphocholine + an acyl-CoA = a 1-O-(1Z-alkenyl)-2-acyl-sn-glycero-3-phosphocholine + CoA.", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8NF37" } ] }, { "ec_number": "2.3.1.23", "activity": "", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8NF37" } ] }, { "ec_number": "2.3.1.25", "activity": "", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8NF37" } ] }, { "ec_number": "2.3.1.67", "activity": "", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8NF37" } ] }, { "ec_number": "2.3.1.51", "activity": "", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8NF37" } ] } ] }, { "uniprot_ac": "Q8TF62", "gene_name": "ATP8B4", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "Q8TF62", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8TF62" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "Q8TF62", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8TF62" } ] } ] }, { "uniprot_ac": "Q92932", "gene_name": "PTPRN2", "activity": [ { "ec_number": "3.1.3.-", "activity": "", "evidence": [ { "id": "Q92932", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q92932" } ] }, { "ec_number": "3.1.3.48", "activity": "O-phospho-L-tyrosyl-[protein] + H2O = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "Q92932", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q92932" } ] }, { "ec_number": "3.1.3.48", "activity": "", "evidence": [ { "id": "Q92932", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q92932" } ] } ] }, { "uniprot_ac": "Q96AX2", "gene_name": "RAB37", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + phosphate + H(+).", "evidence": [ { "id": "Q96AX2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96AX2" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "Q96AX2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96AX2" } ] } ] }, { "uniprot_ac": "Q9Y2G3", "gene_name": "ATP11B", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "Q9Y2G3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9Y2G3" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "Q9Y2G3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9Y2G3" } ] } ] }, { "uniprot_ac": "Q9Y2Q0", "gene_name": "ATP8A1", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "Q9Y2Q0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9Y2Q0" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "Q9Y2Q0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9Y2Q0" } ] } ] }, { "uniprot_ac": "Q9Y3L5", "gene_name": "RAP2C", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + phosphate + H(+).", "evidence": [ { "id": "Q9Y3L5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9Y3L5" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "Q9Y3L5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9Y3L5" } ] } ] }, { "uniprot_ac": "Q9Y6X5", "gene_name": "ENPP4", "activity": [ { "ec_number": "3.6.1.29", "activity": "P(1),P(3)-bis(5'-adenosyl) triphosphate + H2O = AMP + ADP + 2 H(+).", "evidence": [ { "id": "Q9Y6X5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9Y6X5" } ] }, { "ec_number": "3.6.1.29", "activity": "", "evidence": [ { "id": "Q9Y6X5", "database": 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