[ { "uniprot_canonical_ac": "P14410-1", "uniprot_ac": "P14410", "uniprot_id": "SUIS_HUMAN", "mass": { "chemical_mass": 209453.0, "monoisotopic_mass": 209453.0 }, "refseq": { "ac": "NP_001032", "name": "sucrase-isomaltase, intestinal", "summary": "This gene encodes a sucrase-isomaltase enzyme that is expressed in the intestinal brush border. The encoded protein is synthesized as a precursor protein that is cleaved by pancreatic proteases into two enzymatic subunits sucrase and isomaltase. These two subunits heterodimerize to form the sucrose-isomaltase complex. This complex is essential for the digestion of dietary carbohydrates including starch, sucrose and isomaltose. Mutations in this gene are the cause of congenital sucrase-isomaltase deficiency.[provided by RefSeq, Apr 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032" }, "gene_names": [ { "name": "SI", "type": "recommended", "evidence": [ { "id": "P14410", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P14410" } ] }, { "name": "SI", "type": "synonym", "evidence": [ { "id": "NP_001032", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032" } ] } ], "protein_names": [ { "name": "Sucrase-isomaltase, intestinal", "type": "recommended", "evidence": [ { "id": "P14410", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P14410/entry#names_and_taxonomy" } ] }, { "name": "Alpha-methylglucosidase", "type": "synonym", "evidence": [ { "id": "NP_001032", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032" } ] }, { "name": "Oligo-1,6-glucosidase", "type": "synonym", "evidence": [ { "id": "NP_001032", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032" } ] }, { "name": "alpha-glucosidase", "type": "synonym", "evidence": [ { "id": "NP_001032", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032" } ] }, { "name": "oligosaccharide alpha-1,6-glucosidase", "type": "synonym", "evidence": [ { "id": "NP_001032", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032" } ] }, { "name": "sucrase-isomaltase, intestinal", "type": "synonym", "evidence": [ { "id": "NP_001032", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032" } ] } ], "function": [ { "annotation": "Bifunctional enzyme with both sucrase and isomaltase activities involved in breakdown of dietary starch oligosaccharides in small intestine. The isomaltase domain hydrolazes alpha-1,6-glycosidic linkages in isomaltose. The sucrase domain cleaves the alpha-1,2-glycosidic linkages in sucrose to form glucose and fructose, and contributes to the cleavage of the alpha-1,4-glycosidic linkage in maltose to form two glucose monosaccharides.", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprotkb/P14410#function" }, { "database": "PubMed", "id": "20356844", "url": "https://glygen.org/publication/PubMed/20356844" }, { "database": "PubMed", "id": "28522605", "url": "https://glygen.org/publication/PubMed/28522605" } ] }, { "annotation": "Congenital Sucrase-Isomaltase Deficiency: Same Mutation with Different Clinical Presentations.", "evidence": [ { "database": "RefSeq", "id": "NP_001032", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032" }, { "database": "PubMed", "id": "39128102", "url": "https://glygen.org/publication/PubMed/39128102" } ] }, { "annotation": "Prevalence of congenital sucrase-isomaltase deficiency in Turkey may be much higher than the estimates.", "evidence": [ { "database": "RefSeq", "id": "NP_001032", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032" }, { "database": "PubMed", "id": "37349966", "url": "https://glygen.org/publication/PubMed/37349966" } ] }, { "annotation": "Sucrase-isomaltase genotype and response to a starch-reduced and sucrose-reduced diet in IBS-D patients. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001032", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032" }, { "database": "PubMed", "id": "36878682", "url": "https://glygen.org/publication/PubMed/36878682" } ] }, { "annotation": "The glucose-regulated protein GRP94 interacts avidly in the endoplasmic reticulum with sucrase-isomaltase isoforms that are associated with congenital sucrase-isomaltase deficiency.", "evidence": [ { "database": "RefSeq", "id": "NP_001032", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032" }, { "database": "PubMed", "id": "34242650", "url": "https://glygen.org/publication/PubMed/34242650" } ] }, { "annotation": "This gene encodes a sucrase-isomaltase enzyme that is expressed in the intestinal brush border. The encoded protein is synthesized as a precursor protein that is cleaved by pancreatic proteases into two enzymatic subunits sucrase and isomaltase. These two subunits heterodimerize to form the sucrose-isomaltase complex. This complex is essential for the digestion of dietary carbohydrates including starch, sucrose and isomaltose. Mutations in this gene are the cause of congenital sucrase-isomaltase deficiency.[provided by RefSeq, Apr 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001032", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032" } ] } ], "disease": [ { "disease_id": "DOID:0060180", "recommended_name": { "id": "DOID:0060180", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon." }, "synonyms": [], "unlinked_id_list": [], "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ] }, { "disease_id": "DOID:0111633", "recommended_name": { "id": "DOID:0111633", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111633", "name": "congenital sucrase-isomaltase deficiency", "description": "A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1." }, "synonyms": [ { "id": "DOID:0111633", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111633", "name": "CSID", "description": "" }, { "id": "DOID:0111633", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111633", "name": "SI deficiency", "description": "" }, { "id": "DOID:0111633", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111633", "name": "congenital sucrase-isomaltose malabsorption", "description": "" }, { "id": "DOID:0111633", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111633", "name": "congenital sucrose intolerance", "description": "" }, { "id": "DOID:0111633", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111633", "name": "disaccharide intolerance", "description": "" }, { "id": "MONDO:0009114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009114", "name": "congenital sucrase-isomaltase deficiency", "description": "A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterized by malabsorption of sucrose and maltose." }, { "id": "MONDO:0009114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009114", "name": "CSID", "description": "" }, { "id": "MONDO:0009114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009114", "name": "congenital sucrase-isomaltase deficiency", "description": "" }, { "id": "MONDO:0009114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009114", "name": "congenital sucrose intolerance", "description": "" }, { "id": "MONDO:0009114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009114", "name": "disaccharide intolerance", "description": "" }, { "id": "MONDO:0009114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009114", "name": "genetic sucrase-isomaltose malabsorption", "description": "" }, { "id": "MONDO:0009114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009114", "name": "sucrase-isomaltase deficiency", "description": "" }, { "id": "MONDO:0009114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009114", "name": "congenital sucrose-isomaltase malabsorption", "description": "" }, { "id": "MONDO:0009114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009114", "name": "disaccharide intolerance, 1", "description": "" }, { "id": "MONDO:0009114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009114", "name": "sucrase-isomaltase deficiency, congenital", "description": "" }, { "id": "MONDO:0009114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009114", "name": "sucrose intolerance congenital", "description": "" }, { "id": "MONDO:0009114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009114", "name": "sucrose isomaltose enzyme deficiency", "description": "" }, { "id": "MONDO:0009114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009114", "name": "sucrose-isomaltase malabsorption, congenital", "description": "" }, { "id": "MIM:222900", "resource": "MIM", "url": "https://www.omim.org/entry/222900", "name": "Congenital sucrase-isomaltase deficiency", "description": "Congenital sucrase-isomaltase deficiency" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111633", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111633" }, { "id": "0111633", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111633" } ] }, { "disease_id": "DOID:13316", "recommended_name": { "id": "DOID:13316", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13316", "name": "exocrine pancreatic insufficiency", "description": "A pancreas disease that is characterized by the inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine." }, "synonyms": [ { "id": "DOID:13316", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13316", "name": "EPI", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "13316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13316" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 1394, "end_pos": 1394, "sequence_org": "D", "sequence_mut": "E", "comment": "Abolishes sucrase activity.", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprotkb/P14410" }, { "database": "PubMed", "id": "28522605", "url": "https://glygen.org/publication/PubMed/28522605" } ] }, { "start_pos": 1500, "end_pos": 1500, "sequence_org": "D", "sequence_mut": "E", "comment": "Abolishes sucrase activity.", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprotkb/P14410" }, { "database": "PubMed", "id": "28522605", "url": "https://glygen.org/publication/PubMed/28522605" } ] }, { "start_pos": 1500, "end_pos": 1500, "sequence_org": "D", "sequence_mut": "N", "comment": "Abolishes sucrase activity.", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprotkb/P14410" }, { "database": "PubMed", "id": "28522605", "url": "https://glygen.org/publication/PubMed/28522605" } ] }, { "start_pos": 1500, "end_pos": 1500, "sequence_org": "D", "sequence_mut": "S", "comment": "Abolishes sucrase activity.", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprotkb/P14410" }, { "database": "PubMed", "id": "28522605", "url": "https://glygen.org/publication/PubMed/28522605" } ] }, { "start_pos": 1500, "end_pos": 1500, "sequence_org": "D", "sequence_mut": "Y", "comment": "Abolishes sucrase activity.", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprotkb/P14410" }, { "database": "PubMed", "id": "28522605", "url": "https://glygen.org/publication/PubMed/28522605" } ] }, { "start_pos": 265, "end_pos": 265, "sequence_org": "Q", "sequence_mut": "A", "comment": "Does not affect sucrase activity. Increases isomaltase activity.", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprotkb/P14410" }, { "database": "PubMed", "id": "31254546", "url": "https://glygen.org/publication/PubMed/31254546" } ] }, { "start_pos": 266, "end_pos": 266, "sequence_org": "L", "sequence_mut": "A", "comment": "Decreases sucrase activity. Reduces maltose hydrolysis. Reduces isomaltase activity.", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprotkb/P14410" }, { "database": "PubMed", "id": "31254546", "url": "https://glygen.org/publication/PubMed/31254546" } ] }, { "start_pos": 266, "end_pos": 266, "sequence_org": "L", "sequence_mut": "V", "comment": "Decreases sucrase activity. Reduces maltose hydrolysis. Reduces isomaltase activity.", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprotkb/P14410" }, { "database": "PubMed", "id": "31254546", "url": "https://glygen.org/publication/PubMed/31254546" } ] }, { "start_pos": 505, "end_pos": 505, "sequence_org": "D", "sequence_mut": "E", "comment": "Abolishes the isomaltase activity. Reduces maltose hydrolysis, but do not affect sucrase activity.", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprotkb/P14410" }, { "database": "PubMed", "id": "28522605", "url": "https://glygen.org/publication/PubMed/28522605" } ] }, { "start_pos": 604, "end_pos": 604, "sequence_org": "D", "sequence_mut": "E", "comment": "Abolishes the isomaltase activity. Reduces maltose hydrolysis. Does not affect sucrase activity.", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprotkb/P14410" }, { "database": "PubMed", "id": "28522605", "url": "https://glygen.org/publication/PubMed/28522605" } ] }, { "start_pos": 604, "end_pos": 604, "sequence_org": "D", "sequence_mut": "N", "comment": "Abolishes the isomaltase activity. Reduces maltose hydrolysis. Does not affect sucrase activity.", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprotkb/P14410" }, { "database": "PubMed", "id": "28522605", "url": "https://glygen.org/publication/PubMed/28522605" } ] }, { "start_pos": 604, "end_pos": 604, "sequence_org": "D", "sequence_mut": "Y", "comment": "Abolishes the isomaltase activity. Reduces maltose hydrolysis. Does not affect sucrase activity.", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprotkb/P14410" }, { "database": "PubMed", "id": "28522605", "url": "https://glygen.org/publication/PubMed/28522605" } ] }, { "start_pos": 638, "end_pos": 638, "sequence_org": "V", "sequence_mut": "A", "comment": "Decreases sucrase activity. Reduces maltose hydrolysis.", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprotkb/P14410" }, { "database": "PubMed", "id": "31254546", "url": "https://glygen.org/publication/PubMed/31254546" } ] }, { "start_pos": 638, "end_pos": 638, "sequence_org": "V", "sequence_mut": "L", "comment": "Decreases sucrase activity. Reduces maltose hydrolysis.", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprotkb/P14410" }, { "database": "PubMed", "id": "31254546", "url": "https://glygen.org/publication/PubMed/31254546" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "47.91", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000090402", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090402" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000090402", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090402" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": 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"database": "Bgee", "id": "ENSG00000090402", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090402" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "69.74", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000090402", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090402" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "43.39", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000090402", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090402" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "28.91", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000090402", "url": 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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": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P14410", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14410" } ], "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": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P14410", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14410" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", 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"description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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}, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": 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"https://www.uniprot.org/uniprotkb/P14410", "locus": { "chromosome": "3", "start_pos": 164978898, "end_pos": 165078496, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000090402", "url": "https://www.ensembl.org/id/ENSG00000090402" } ] } } ], "crossref": [ { "id": "HGNC:10856", "url": "https://alliancegenome.org/gene/HGNC:10856", "database": "AGR", "categories": [ "Protein Classification" ] }, { "id": "P14410", "url": "https://alphafold.ebi.ac.uk/entry/P14410", "database": "AlphaFoldDB", "categories": [] }, { "id": "ENSG00000090402", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090402", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P14410", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P14410", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "3.2.1.10", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=3.2.1.10&UniProtAcc=P14410", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "3.2.1.48", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=3.2.1.48&UniProtAcc=P14410", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "GH31", "url": "http://www.cazy.org/GH31.html", "database": "CAZy", "categories": [ "Protein Classification" ] }, { "id": "cd00111", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00111", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd06602", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd06602", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd14752", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd14752", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL2748", "url": "https://www.ebi.ac.uk/chembl/target/inspect/CHEMBL2748", "database": "ChEMBL", "categories": [ "Chemical" ] }, { "id": "SI", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SI", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "6476", "url": "https://www.ncbi.nlm.nih.gov/gene/6476", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "10856", "url": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10856", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "6476", "url": "https://hpo.jax.org/browse/gene/NCBIGene:6476", "database": "HPO", "categories": [ "Other" ] }, { "id": "3LPO", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?mmdbid=3LPO&bu=0", "database": "iCn3D", "categories": [ "3D Structure" ] }, { "id": "3LPP", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?mmdbid=3LPP&bu=0", "database": "iCn3D", "categories": [ "3D Structure" ] }, { "id": "1056614", "url": "https://www.iedb.org/epitope/1056614", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1089009", "url": "https://www.iedb.org/epitope/1089009", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1103726", "url": "https://www.iedb.org/epitope/1103726", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1118694", "url": "https://www.iedb.org/epitope/1118694", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1120762", "url": "https://www.iedb.org/epitope/1120762", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1185406", "url": "https://www.iedb.org/epitope/1185406", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1373577", "url": "https://www.iedb.org/epitope/1373577", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1886519", "url": "https://www.iedb.org/epitope/1886519", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2007120", "url": "https://www.iedb.org/epitope/2007120", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2009154", "url": "https://www.iedb.org/epitope/2009154", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2015223", "url": "https://www.iedb.org/epitope/2015223", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2037770", "url": "https://www.iedb.org/epitope/2037770", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2039462", "url": "https://www.iedb.org/epitope/2039462", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2042155", "url": "https://www.iedb.org/epitope/2042155", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2043716", "url": "https://www.iedb.org/epitope/2043716", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2055537", "url": "https://www.iedb.org/epitope/2055537", "database": "IEDB", "categories": [ "Other" ] }, { "id": "934006", "url": "https://www.iedb.org/epitope/934006", "database": "IEDB", "categories": [ "Other" ] }, { "id": "934459", "url": "https://www.iedb.org/epitope/934459", "database": "IEDB", "categories": [ "Other" ] }, { "id": "934604", "url": "https://www.iedb.org/epitope/934604", "database": "IEDB", "categories": [ "Other" ] }, { "id": "935134", "url": "https://www.iedb.org/epitope/935134", "database": "IEDB", "categories": [ "Other" ] }, { "id": "936087", "url": "https://www.iedb.org/epitope/936087", "database": "IEDB", "categories": [ "Other" ] }, { "id": "936728", "url": "https://www.iedb.org/epitope/936728", "database": "IEDB", "categories": [ "Other" ] }, { "id": "936945", "url": "https://www.iedb.org/epitope/936945", "database": "IEDB", "categories": [ "Other" ] }, { "id": "937694", "url": "https://www.iedb.org/epitope/937694", "database": "IEDB", "categories": [ "Other" ] }, { "id": "938355", "url": "https://www.iedb.org/epitope/938355", "database": "IEDB", "categories": [ "Other" ] }, { "id": "939273", "url": "https://www.iedb.org/epitope/939273", "database": "IEDB", "categories": [ "Other" ] }, { "id": "939374", "url": "https://www.iedb.org/epitope/939374", "database": "IEDB", "categories": [ "Other" ] }, { "id": "940141", "url": "https://www.iedb.org/epitope/940141", "database": "IEDB", "categories": [ "Other" ] }, { "id": "940683", "url": "https://www.iedb.org/epitope/940683", "database": "IEDB", "categories": [ "Other" ] }, { "id": "941531", "url": "https://www.iedb.org/epitope/941531", "database": "IEDB", "categories": [ "Other" ] }, { "id": "942750", "url": "https://www.iedb.org/epitope/942750", "database": "IEDB", "categories": [ "Other" ] }, { "id": "942757", "url": "https://www.iedb.org/epitope/942757", "database": "IEDB", "categories": [ "Other" ] }, { "id": "943788", "url": "https://www.iedb.org/epitope/943788", "database": "IEDB", "categories": [ "Other" ] }, { "id": "P14410", "url": "https://www.ebi.ac.uk/intact/interactors/id:P14410*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000322", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000322", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR000519", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000519", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011013", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011013", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013780", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013780", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017853", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017853", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017957", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017957", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR025887", "url": "https://www.ebi.ac.uk/interpro/entry/IPR025887", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR030458", "url": "https://www.ebi.ac.uk/interpro/entry/IPR030458", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR030459", "url": "https://www.ebi.ac.uk/interpro/entry/IPR030459", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR044913", "url": "https://www.ebi.ac.uk/interpro/entry/IPR044913", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR048395", "url": "https://www.ebi.ac.uk/interpro/entry/IPR048395", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:6476", "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:6476", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "222900", "url": "http://www.omim.org/entry/222900", "database": "MIM", "categories": [ "Other" ] }, { "id": "609845", "url": "http://www.omim.org/entry/609845", "database": "MIM", "categories": [ "Other" ] }, { "id": "AQHVWIN", "url": "https://omabrowser.org/oma/group/AQHVWIN/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "PTHR22762", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22762", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR22762:SF66", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22762:SF66", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "pdb_00003lpo", "url": "https://www.rcsb.org/structure/pdb_00003lpo", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00003lpp", "url": "https://www.rcsb.org/structure/pdb_00003lpp", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3LPO", "url": "https://www.rcsb.org/structure/3LPO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3LPP", "url": "https://www.rcsb.org/structure/3LPP", "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": "P14410", "url": "https://pharos.nih.gov/targets/P14410", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:P14410", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:P14410", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085", "database": "Reactome", "categories": [ "Enzyme and Pathway" ] }, { "id": "R-HSA-5659898", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5659898", "database": "Reactome", "categories": [ "Enzyme and Pathway" ] }, { "id": "NP_001032", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "33795", "url": "https://www.rhea-db.org/rhea/33795", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "68796", "url": "https://www.rhea-db.org/rhea/68796", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "68864", "url": "https://www.rhea-db.org/rhea/68864", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "F8WF21", "url": "https://www.uniprot.org/uniprotkb/F8WF21", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WF21-1", "url": "https://www.uniprot.org/uniprotkb/F8WF21-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P14410", "url": "https://www.uniprot.org/uniprotkb/P14410", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P14410-1", "url": "https://www.uniprot.org/uniprotkb/P14410-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MARKKFSGLEISLIVLFVIVTIIAIALIVVLATKTPAVDEISDSTSTPATTRVTTNPSDSGKCPNVLNDPVNVRINCIPEQFPTEGICAQRGCCWRPWNDSLIPWCFFVDNHGYNVQDMTTTSIGVEAKLNRIPSPTLFGNDINSVLFTTQNQTPNRFRFKITDPNNRRYEVPHQYVKEFTGPTVSDTLYDVKVAQNPFSIQVIRKSNGKTLFDTSIGPLVYSDQYLQISTRLPSDYIYGIGEQVHKRFRHDLSWKTWPIFTRDQLPGDNNNNLYGHQTFFMCIEDTSGKSFGVFLMNSNAMEIFIQPTPIVTYRVTGGILDFYILLGDTPEQVVQQYQQLVGLPAMPAYWNLGFQLSRWNYKSLDVVKEVVRRNREAGIPFDTQVTDIDYMEDKKDFTYDQVAFNGLPQFVQDLHDHGQKYVIILDPAISIGRRANGTTYATYERGNTQHVWINESDGSTPIIGEVWPGLTVYPDFTNPNCIDWWANECSIFHQEVQYDGLWIDMNEVSSFIQGSTKGCNVNKLNYPPFTPDILDKLMYSKTICMDAVQNWGKQYDVHSLYGYSMAIATEQAVQKVFPNKRSFILTRSTFAGSGRHAAHWLGDNTASWEQMEWSITGMLEFSLFGIPLVGADICGFVAETTEELCRRWMQLGAFYPFSRNHNSDGYEHQDPAFFGQNSLLVKSSRQYLTIRYTLLPFLYTLFYKAHVFGETVARPVLHEFYEDTNSWIEDTEFLWGPALLITPVLKQGADTVSAYIPDAIWYDYESGAKRPWRKQRVDMYLPADKIGLHLRGGYIIPIQEPDVTTTASRKNPLGLIVALGENNTAKGDFFWDDGETKDTIQNGNYILYTFSVSNNTLDIVCTHSSYQEGTTLAFQTVKILGLTDSVTEVRVAENNQPMNAHSNFTYDASNQVLLIADLKLNLGRNFSVQWNQIFSENERFNCYPDADLATEQKCTQRGCVWRTGSSLSKAPECYFPRQDNSYSVNSARYSSMGITADLQLNTANARIKLPSDPISTLRVEVKYHKNDMLQFKIYDPQKKRYEVPVPLNIPTTPISTYEDRLYDVEIKENPFGIQIRRRSSGRVIWDSWLPGFAFNDQFIQISTRLPSEYIYGFGEVEHTAFKRDLNWNTWGMFTRDQPPGYKLNSYGFHPYYMALEEEGNAHGVFLLNSNAMDVTFQPTPALTYRTVGGILDFYMFLGPTPEVATKQYHEVIGHPVMPAYWALGFQLCRYGYANTSEVRELYDAMVAANIPYDVQYTDIDYMERQLDFTIGEAFQDLPQFVDKIRGEGMRYIIILDPAISGNETKTYPAFERGQQNDVFVKWPNTNDICWAKVWPDLPNITIDKTLTEDEAVNASRAHVAFPDFFRTSTAEWWAREIVDFYNEKMKFDGLWIDMNEPSSFVNGTTTNQCRNDELNYPPYFPELTKRTDGLHFRTICMEAEQILSDGTSVLHYDVHNLYGWSQMKPTHDALQKTTGKRGIVISRSTYPTSGRWGGHWLGDNYARWDNMDKSIIGMMEFSLFGMSYTGADICGFFNNSEYHLCTRWMQLGAFYPYSRNHNIANTRRQDPASWNETFAEMSRNILNIRYTLLPYFYTQMHEIHANGGTVIRPLLHEFFDEKPTWDIFKQFLWGPAFMVTPVLEPYVQTVNAYVPNARWFDYHTGKDIGVRGQFQTFNASYDTINLHVRGGHILPCQEPAQNTFYSRQKHMKLIVAADDNQMAQGSLFWDDGESIDTYERDLYLSVQFNLNQTTLTSTILKRGYINKSETRLGSLHVWGKGTTPVNAVTLTYNGNKNSLPFNEDTTNMILRIDLTTHNVTLEEPIEINWS", 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Philippe, Coukos George, Bassani-Sternberg Michal, Gfeller David", "evidence": [ { "database": "iPTMnet", "id": "P14410", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14410" } ], "reference": [ { "type": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ] }, { "title": "Soluble HLA peptidome of pleural effusions is a valuable source for tumor antigens.", "journal": "Journal for immunotherapy of cancer", "date": "2022-05", "authors": "Khazan-Kost Sofia, Cafri Gal, Melamed Kadosh Dganit, Mooshayef Navit, Chatterji Sumit, Dominissini Dan, Manor Sigal, Zisser Bracha, Broday Limor, Talalai Efrosiniia, Shemer Anat, Zadok Oranit, Ofek Efrat, Onn Amir, Admon Arie, Peled Michael", "evidence": [ { "database": "IEDB", "id": "937694", "url": "https://www.iedb.org/epitope/937694" }, { "database": "IEDB", "id": "939273", "url": "https://www.iedb.org/epitope/939273" }, { "database": "IEDB", "id": "940141", "url": 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"https://glygen.org/publication/PubMed/3800897" } ] }, { "title": "Expression and intracellular transport of microvillus membrane hydrolases in human intestinal epithelial cells.", "journal": "The Journal of cell biology", "date": "1985", "authors": "Hauri HP, Sterchi EE, Bienz D, Fransen JA, Marxer A", "evidence": [ { "database": "Reactome", "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085" } ], "reference": [ { "type": "PubMed", "id": "3897250", "url": "https://glygen.org/publication/PubMed/3897250" } ] }, { "title": "Congenital Sucrase-Isomaltase Deficiency: Same Mutation with Different Clinical Presentations.", "journal": "The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology", "date": "2024-04", "authors": "\u0130ryanc\u0131 Fatma \u0130ssi, G\u00fcven Burcu, \u00c7ak\u0131r Murat", "evidence": [ { "database": "RefSeq", "id": "NP_001032", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032" } ], "reference": [ { "type": "PubMed", "id": "39128102", "url": "https://glygen.org/publication/PubMed/39128102" } ] }, { "title": "Trehalase deficiency in a family.", "journal": "Gastroenterology", "date": "1973", "authors": "Madzarovova-Nohejlova J", "evidence": [ { "database": "Reactome", "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085" } ], "reference": [ { "type": "PubMed", "id": "4737205", "url": "https://glygen.org/publication/PubMed/4737205" } ] }, { "title": "Trehalose malabsorption causing intolerance to mushrooms. Report of a probable case.", "journal": "Gastroenterology", "date": "1971", "authors": "Bergoz R", "evidence": [ { "database": "Reactome", "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085" } ], "reference": [ { "type": "PubMed", "id": "5104075", "url": "https://glygen.org/publication/PubMed/5104075" } ] }, { "title": "Lack of some intestinal maltases in a human disease transmitted by a single genetic factor.", "journal": "Biochimica et biophysica acta", "date": "1965", "authors": "Semenza G, Auricchio S, Rubino A, Prader A, Welsh JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5659898", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5659898" } ], "reference": [ { "type": "PubMed", "id": "5849827", "url": "https://glygen.org/publication/PubMed/5849827" } ] }, { "title": "Purification and characterization of kidney and intestinal brush-border membrane trehalases from the rabbit.", "journal": "Biochimica et biophysica acta", "date": "1984", "authors": "Galand G", "evidence": [ { "database": "Reactome", "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085" } ], "reference": [ { "type": "PubMed", "id": "6466686", "url": "https://glygen.org/publication/PubMed/6466686" } ] }, { "title": "Human lactase-phlorizin hydrolase: evidence of dimerization in the endoplasmic reticulum.", "journal": "Archives of biochemistry and biophysics", "date": "1995", "authors": "Grunberg J, Sterchi EE", "evidence": [ { "database": "Reactome", "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085" } ], "reference": [ { "type": "PubMed", "id": "7487100", "url": "https://glygen.org/publication/PubMed/7487100" } ] }, { "title": "Purification and characterization of human chitotriosidase, a novel member of the chitinase family of proteins.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Renkema GH, Boot RG, Muijsers AO, Donker-Koopman WE, Aerts JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085" } ], "reference": [ { "type": "PubMed", "id": "7836450", "url": "https://glygen.org/publication/PubMed/7836450" } ] }, { "title": "Dimeric assembly of enterocyte brush border enzymes.", "journal": "Biochemistry", "date": "1994", "authors": "Danielsen EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085" } ], "reference": [ { "type": "PubMed", "id": "7906143", "url": "https://glygen.org/publication/PubMed/7906143" } ] }, { "title": "Human intestinal sucrase-isomaltase. Identification of free sucrase and isomaltase and cleavage of the hybrid into active distinct subunits.", "journal": "The Journal of biological chemistry", "date": "1975", "authors": "Conklin KA, Yamashiro KM, Gray GM", "evidence": [ { "database": "Reactome", "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085" } ], "reference": [ { "type": "PubMed", "id": "807575", "url": "https://glygen.org/publication/PubMed/807575" } ] }, { "title": "Phosphorylation of the N-terminal intracellular tail of sucrase-isomaltase by cAMP-dependent protein kinase.", "journal": "European journal of biochemistry", "date": "1995", "authors": "Keller P, Semenza G, Shaltiel S", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprotkb/P14410" }, { "database": "iPTMnet", "id": "P14410", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14410" } ], "reference": [ { "type": "PubMed", "id": "8521865", "url": "https://glygen.org/publication/PubMed/8521865" } ] }, { "title": "Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment.", "journal": "The Journal of clinical investigation", "date": "1996", "authors": "Ouwendijk J, Moolenaar CE, Peters WJ, Hollenberg CP, Ginsel LA, Fransen JA, Naim HY", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprotkb/P14410" }, { "database": "Reactome", "id": "R-HSA-5659898", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5659898" }, { "database": "dbSNP", "id": "rs121912611", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121912611" } ], "reference": [ { "type": "PubMed", "id": "8609217", "url": "https://glygen.org/publication/PubMed/8609217" } ] }, { "title": "Proteolytic processing of human lactase-phlorizin hydrolase is a two-step event: identification of the cleavage sites.", "journal": "Archives of biochemistry and biophysics", "date": "1996", "authors": "Wuthrich M, Grunberg J, Hahn D, Jacob R, Radebach I, Naim HY, Sterchi EE", "evidence": [ { "database": "Reactome", "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085" } ], "reference": [ { "type": "PubMed", "id": "8951031", "url": "https://glygen.org/publication/PubMed/8951031" } ] }, { "title": "Molecular cloning, sequencing and expression of cDNA encoding human trehalase.", "journal": "Gene", "date": "1997", "authors": "Ishihara R, Taketani S, Sasai-Takedatsu M, Kino M, Tokunaga R, Kobayashi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085" } ], "reference": [ { "type": "PubMed", "id": "9427547", "url": "https://glygen.org/publication/PubMed/9427547" } ] }, { "title": "Human small intestinal maltase-glucoamylase cDNA cloning. Homology to sucrase-isomaltase.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Nichols BL, Eldering J, Avery S, Hahn D, Quaroni A, Sterchi E", "evidence": [ { "database": "Reactome", "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085" } ], "reference": [ { "type": "PubMed", "id": "9446624", "url": "https://glygen.org/publication/PubMed/9446624" } ] } ], "pathway": [ { "id": "hsa:6476", "name": "", "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:6476", "resource": "KEGG Pathway" }, { "id": "R-HSA-189085", "name": "", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085", "resource": "Reactome", "description": "Digestion of dietary carbohydrate" }, { "id": "R-HSA-5659898", "name": "", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5659898", "resource": "Reactome", "description": "Intestinal saccharidase deficiencies" } ], "orthologs": [ { "uniprot_canonical_ac": "E1BGH5-1", "protein_name": 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border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprotkb/P14410" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprotkb/P14410" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprotkb/P14410" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "polysaccharide digestion", "id": "GO:0044245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044245", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprotkb/P14410" } ], "pmid": "" }, { "name": "sucrose catabolic process", "id": "GO:0005987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005987", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprotkb/P14410" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1235, "end_pos": 1237, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1303, "end_pos": 1305, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1340, "end_pos": 1342, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1354, "end_pos": 1356, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1403, "end_pos": 1405, "annotation": "n_glycosylation_sequon" }, { "start_pos": 152, "end_pos": 154, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1535, "end_pos": 1537, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1572, "end_pos": 1574, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1675, "end_pos": 1677, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1748, "end_pos": 1750, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1763, "end_pos": 1765, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1815, "end_pos": 1817, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1825, "end_pos": 1827, "annotation": "n_glycosylation_sequon" }, { "start_pos": 437, "end_pos": 439, "annotation": "n_glycosylation_sequon" }, { "start_pos": 455, "end_pos": 457, "annotation": "n_glycosylation_sequon" }, { "start_pos": 823, "end_pos": 825, "annotation": "n_glycosylation_sequon" }, { "start_pos": 855, "end_pos": 857, "annotation": "n_glycosylation_sequon" }, { "start_pos": 904, "end_pos": 906, "annotation": "n_glycosylation_sequon" }, { "start_pos": 926, "end_pos": 928, "annotation": "n_glycosylation_sequon" }, { "start_pos": 99, "end_pos": 101, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Proteolytically cleaved into 2 catalytic subunits the sucrase subunit and isomaltase subunit. 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"o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 17 }, { "field": "exact_o_linked_sites", "count": 4 }, { "field": "exact_n_linked_sites", "count": 13 }, { "field": "fuzzy_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl", "icn3d_view.label", "icn3d_view.url" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3314 }, { "field": "total_sites", "count": 1614 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1591 }, { "field": "total_sites", "count": 1097 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1723 }, { "field": "total_sites", "count": 1180 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 64 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ], "tool_support": { "graph_view": "yes" } } ]