{ "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", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P14410", "id": "P14410" }, { "name": "SI", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032", "id": "NP_001032" } ], "protein_names": [ { "name": "Sucrase-isomaltase, intestinal", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P14410" }, { "name": "oligosaccharide alpha-1,6-glucosidase; alpha-glucosidase; Oligo-1,6-glucosidase; Alpha-methylglucosidase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032", "id": "NP_001032" }, { "name": "sucrase-isomaltase, intestinal", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032", "id": "NP_001032" } ], "function": [ { "annotation": "Plays an important role in the final stage of carbohydrate digestion. Isomaltase activity is specific for both alpha-1,4- and alpha-1,6-oligosaccharides.", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprot/P14410#function" }, { "database": "PubMed", "id": "20356844", "url": "https://glygen.org/publication/PubMed/20356844" } ] }, { "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": "Rare Hypomorphic Sucrase Isomaltase Variants in Relation to Irritable Bowel Syndrome Risk in UK Biobank.", "evidence": [ { "database": "RefSeq", "id": "NP_001032", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032" }, { "database": "PubMed", "id": "34186061", "url": "https://glygen.org/publication/PubMed/34186061" } ] }, { "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" } ] }, { "annotation": "Three biosynthetic phenotypes for the novel SI mutations were identified. The first biosynthetic phenotype was defined by mutants that are intracellularly transported in a fashion similar to wild type SI and with normal, but varying, levels of enzymatic activity. The second biosynthetic phenotype was defined by mutants with delayed maturation and trafficking kinetics and reduced activity. The third is inactive.", "evidence": [ { "database": "RefSeq", "id": "NP_001032", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032" }, { "database": "PubMed", "id": "28062276", "url": "https://glygen.org/publication/PubMed/28062276" } ] }, { "annotation": "Through a 2-step computational and experimental strategy, the present study found increased prevalence new dysfunctional SI variants associated with irritable bowel syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001032", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032" }, { "database": "PubMed", "id": "29408290", "url": "https://glygen.org/publication/PubMed/29408290" } ] } ], "disease": [ { "disease_id": "DOID:0111633", "recommended_name": { "id": "DOID:0111633", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0111633", "name": "CSID", "description": "" }, { "id": "DOID:0111633", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111633", "name": "SI deficiency", "description": "" }, { "id": "DOID:0111633", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111633", "name": "congenital sucrase-isomaltose malabsorption", "description": "" }, { "id": "DOID:0111633", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111633", "name": "congenital sucrose intolerance", "description": "" }, { "id": "DOID:0111633", "resource": "Disease Ontology", "url": "http://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 sucrase-isomaltose malabsorption", "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": "SI deficiency", "description": "" }, { "id": "MONDO:0009114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009114", "name": "congenital sucrose malabsorption", "description": "" }, { "id": "MONDO:0009114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009114", "name": "congenital sucrose-isomaltase 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"https://monarchinitiative.org/disease/MONDO:0009114", "name": "invertase deficiency", "description": "" }, { "id": "MONDO:0009114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009114", "name": "sucrase-alpha-dextrinase deficiency", "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 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": "MONDO:0009114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009114", "name": "sucrose-isomaltose 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" } ], "evidence": [ { "id": "222900", "database": "MIM", "url": "https://www.omim.org/entry/222900" } ] } ], "snv": [ { "evidence": [ { "id": "P14410", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P14410" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1007, "end_pos": 1007, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NAR->NAT).", "chr_id": "3", "chr_pos": "165023649", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R1007", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://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", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "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": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P14410", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P14410" } ], "glycoeffect": [], "start_pos": 1019, "end_pos": 1019, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "165023614", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1019", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon 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"https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "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": "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:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P14410", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14410" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "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": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://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": "http://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": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://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", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "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": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P14410", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14410" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P14410", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14410" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"MARKKFSGLEISLIVLFVIVTIIAIALIVVLATKTPAVDEISDSTSTPATTRVTTNPSDSGKCPNVLNDPVNVRINCIPEQFPTEGICAQRGCCWRPWNDSLIPWCFFVDNHGYNVQDMTTTSIGVEAKLNRIPSPTLFGNDINSVLFTTQNQTPNRFRFKITDPNNRRYEVPHQYVKEFTGPTVSDTLYDVKVAQNPFSIQVIRKSNGKTLFDTSIGPLVYSDQYLQISTRLPSDYIYGIGEQVHKRFRHDLSWKTWPIFTRDQLPGDNNNNLYGHQTFFMCIEDTSGKSFGVFLMNSNAMEIFIQPTPIVTYRVTGGILDFYILLGDTPEQVVQQYQQLVGLPAMPAYWNLGFQLSRWNYKSLDVVKEVVRRNREAGIPFDTQVTDIDYMEDKKDFTYDQVAFNGLPQFVQDLHDHGQKYVIILDPAISIGRRANGTTYATYERGNTQHVWINESDGSTPIIGEVWPGLTVYPDFTNPNCIDWWANECSIFHQEVQYDGLWIDMNEVSSFIQGSTKGCNVNKLNYPPFTPDILDKLMYSKTICMDAVQNWGKQYDVHSLYGYSMAIATEQAVQKVFPNKRSFILTRSTFAGSGRHAAHWLGDNTASWEQMEWSITGMLEFSLFGIPLVGADICGFVAETTEELCRRWMQLGAFYPFSRNHNSDGYEHQDPAFFGQNSLLVKSSRQYLTIRYTLLPFLYTLFYKAHVFGETVARPVLHEFYEDTNSWIEDTEFLWGPALLITPVLKQGADTVSAYIPDAIWYDYESGAKRPWRKQRVDMYLPADKIGLHLRGGYIIPIQEPDVTTTASRKNPLGLIVALGENNTAKGDFFWDDGETKDTIQNGNYILYTFSVSNNTLDIVCTHSSYQEGTTLAFQTVKILGLTDSVTEVRVAENNQPMNAHSNFTYDASNQVLLIADLKLNLGRNFSVQWNQIFSENERFNCYPDADLATEQKCTQRGCVWRTGSSLSKAPECYFPRQDNSYSVNSARYSSMGITADLQLNTANARIKLPSDPISTLRVEVKYHKNDMLQFKIYDPQKKRYEVPVPLNIPTTPISTYEDRLYDVEIKENPFGIQIRRRSSGRVIWDSWLPGFAFNDQFIQISTRLPSEYIYGFGEVEHTAFKRDLNWNTWGMFTRDQPPGYKLNSYGFHPYYMALEEEGNAHGVFLLNSNAMDVTFQPTPALTYRTVGGILDFYMFLGPTPEVATKQYHEVIGHPVMPAYWALGFQLCRYGYANTSEVRELYDAMVAANIPYDVQYTDIDYMERQLDFTIGEAFQDLPQFVDKIRGEGMRYIIILDPAISGNETKTYPAFERGQQNDVFVKWPNTNDICWAKVWPDLPNITIDKTLTEDEAVNASRAHVAFPDFFRTSTAEWWAREIVDFYNEKMKFDGLWIDMNEPSSFVNGTTTNQCRNDELNYPPYFPELTKRTDGLHFRTICMEAEQILSDGTSVLHYDVHNLYGWSQMKPTHDALQKTTGKRGIVISRSTYPTSGRWGGHWLGDNYARWDNMDKSIIGMMEFSLFGMSYTGADICGFFNNSEYHLCTRWMQLGAFYPYSRNHNIANTRRQDPASWNETFAEMSRNILNIRYTLLPYFYTQMHEIHANGGTVIRPLLHEFFDEKPTWDIFKQFLWGPAFMVTPVLEPYVQTVNAYVPNARWFDYHTGKDIGVRGQFQTFNASYDTINLHVRGGHILPCQEPAQNTFYSRQKHMKLIVAADDNQMAQGSLFWDDGESIDTYERDLYLSVQFNLNQTTLTSTILKRGYINKSETRLGSLHVWGKGTTPVNAVTLTYNGNKNSLPFNEDTTNMILRIDLTTHNVTLEEPIEINWS", "length": 1827, "header": "sp|P14410-1|SUIS_HUMAN Isoform 1 of Sucrase-isomaltase, intestinal OS=Homo sapiens OX=9606 GN=SI PE=1 SV=6 CANONICAL=P14410-1" }, "isoforms": [ { "isoform_ac": "F8WF21-1", "url": "", "sequence": { "sequence": "MARKKFSGLEISLIVLFVIVTIIAIALIVVLATKTPAVDVFSSPRN", "length": 46, "header": "tr|F8WF21-1|F8WF21_HUMAN Computationally mapped isoform of Sucrase-isomaltase OS=Homo sapiens OX=9606 GN=SI PE=4 SV=1 CANONICAL=P14410-1" }, "locus": { "chromosome": "3", "start_pos": 165076012, "end_pos": 165074664, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000476593.1", "url": "https://www.ensembl.org/id/ENST00000476593.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000419450.1", "url": "https://www.ensembl.org/id/ENSP00000419450.1" } ] } }, { "isoform_ac": "P14410-1", "url": "", "sequence": { "sequence": "MARKKFSGLEISLIVLFVIVTIIAIALIVVLATKTPAVDEISDSTSTPATTRVTTNPSDSGKCPNVLNDPVNVRINCIPEQFPTEGICAQRGCCWRPWNDSLIPWCFFVDNHGYNVQDMTTTSIGVEAKLNRIPSPTLFGNDINSVLFTTQNQTPNRFRFKITDPNNRRYEVPHQYVKEFTGPTVSDTLYDVKVAQNPFSIQVIRKSNGKTLFDTSIGPLVYSDQYLQISTRLPSDYIYGIGEQVHKRFRHDLSWKTWPIFTRDQLPGDNNNNLYGHQTFFMCIEDTSGKSFGVFLMNSNAMEIFIQPTPIVTYRVTGGILDFYILLGDTPEQVVQQYQQLVGLPAMPAYWNLGFQLSRWNYKSLDVVKEVVRRNREAGIPFDTQVTDIDYMEDKKDFTYDQVAFNGLPQFVQDLHDHGQKYVIILDPAISIGRRANGTTYATYERGNTQHVWINESDGSTPIIGEVWPGLTVYPDFTNPNCIDWWANECSIFHQEVQYDGLWIDMNEVSSFIQGSTKGCNVNKLNYPPFTPDILDKLMYSKTICMDAVQNWGKQYDVHSLYGYSMAIATEQAVQKVFPNKRSFILTRSTFAGSGRHAAHWLGDNTASWEQMEWSITGMLEFSLFGIPLVGADICGFVAETTEELCRRWMQLGAFYPFSRNHNSDGYEHQDPAFFGQNSLLVKSSRQYLTIRYTLLPFLYTLFYKAHVFGETVARPVLHEFYEDTNSWIEDTEFLWGPALLITPVLKQGADTVSAYIPDAIWYDYESGAKRPWRKQRVDMYLPADKIGLHLRGGYIIPIQEPDVTTTASRKNPLGLIVALGENNTAKGDFFWDDGETKDTIQNGNYILYTFSVSNNTLDIVCTHSSYQEGTTLAFQTVKILGLTDSVTEVRVAENNQPMNAHSNFTYDASNQVLLIADLKLNLGRNFSVQWNQIFSENERFNCYPDADLATEQKCTQRGCVWRTGSSLSKAPECYFPRQDNSYSVNSARYSSMGITADLQLNTANARIKLPSDPISTLRVEVKYHKNDMLQFKIYDPQKKRYEVPVPLNIPTTPISTYEDRLYDVEIKENPFGIQIRRRSSGRVIWDSWLPGFAFNDQFIQISTRLPSEYIYGFGEVEHTAFKRDLNWNTWGMFTRDQPPGYKLNSYGFHPYYMALEEEGNAHGVFLLNSNAMDVTFQPTPALTYRTVGGILDFYMFLGPTPEVATKQYHEVIGHPVMPAYWALGFQLCRYGYANTSEVRELYDAMVAANIPYDVQYTDIDYMERQLDFTIGEAFQDLPQFVDKIRGEGMRYIIILDPAISGNETKTYPAFERGQQNDVFVKWPNTNDICWAKVWPDLPNITIDKTLTEDEAVNASRAHVAFPDFFRTSTAEWWAREIVDFYNEKMKFDGLWIDMNEPSSFVNGTTTNQCRNDELNYPPYFPELTKRTDGLHFRTICMEAEQILSDGTSVLHYDVHNLYGWSQMKPTHDALQKTTGKRGIVISRSTYPTSGRWGGHWLGDNYARWDNMDKSIIGMMEFSLFGMSYTGADICGFFNNSEYHLCTRWMQLGAFYPYSRNHNIANTRRQDPASWNETFAEMSRNILNIRYTLLPYFYTQMHEIHANGGTVIRPLLHEFFDEKPTWDIFKQFLWGPAFMVTPVLEPYVQTVNAYVPNARWFDYHTGKDIGVRGQFQTFNASYDTINLHVRGGHILPCQEPAQNTFYSRQKHMKLIVAADDNQMAQGSLFWDDGESIDTYERDLYLSVQFNLNQTTLTSTILKRGYINKSETRLGSLHVWGKGTTPVNAVTLTYNGNKNSLPFNEDTTNMILRIDLTTHNVTLEEPIEINWS", "length": 1827, "header": "sp|P14410-1|SUIS_HUMAN Isoform 1 of Sucrase-isomaltase, intestinal OS=Homo sapiens OX=9606 GN=SI PE=1 SV=6 CANONICAL=P14410-1" }, "locus": { "chromosome": "3", "start_pos": 165076012, "end_pos": 164979365, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000264382.8", "url": "https://www.ensembl.org/id/ENST00000264382.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000264382.3", "url": "https://www.ensembl.org/id/ENSP00000264382.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1235, "start_aa": "Asn", "end_pos": 1235, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1235", "evidence": [ { "id": "P14410", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14410#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1303, "start_aa": "Asn", "end_pos": 1303, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1303", "evidence": [ { "id": "P14410", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14410#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1340, "start_aa": "Asn", "end_pos": 1340, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1340", "evidence": [ { "id": "P14410", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14410#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1354, "start_aa": "Asn", "end_pos": 1354, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1354", "evidence": [ { "id": "P14410", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14410#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1403, "start_aa": "Asn", "end_pos": 1403, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1403", "evidence": [ { "id": "P14410", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14410#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1535, "start_aa": "Asn", "end_pos": 1535, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1535", "evidence": [ { "id": "P14410", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14410#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1572, "start_aa": "Asn", "end_pos": 1572, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1572", "evidence": [ { "id": "P14410", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14410#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1675, "start_aa": "Asn", "end_pos": 1675, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1675", "evidence": [ { "id": "P14410", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14410#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1748, "start_aa": "Asn", "end_pos": 1748, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1748", "evidence": [ { "id": "P14410", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14410#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1763, "start_aa": "Asn", "end_pos": 1763, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1763", "evidence": [ { "id": "P14410", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14410#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1815, "start_aa": "Asn", "end_pos": 1815, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1815", "evidence": [ { "id": "P14410", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14410#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 437, "start_aa": "Asn", "end_pos": 437, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn437", "evidence": [ { "id": "P14410", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14410#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 455, "start_aa": "Asn", "end_pos": 455, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn455", "evidence": [ { "id": "P14410", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14410#ptm_processing" }, { "id": "20356844", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20356844" }, { "id": "3LPO", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3LPO" }, { "id": "3LPP", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3LPP" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 823, "start_aa": "Asn", "end_pos": 823, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn823", "evidence": [ { "id": "P14410", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14410#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 855, "start_aa": "Asn", "end_pos": 855, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn855", "evidence": [ { "id": "P14410", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14410#ptm_processing" }, { "id": "20356844", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20356844" }, { "id": "3LPO", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3LPO" }, { "id": "3LPP", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3LPP" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 904, "start_aa": "Asn", "end_pos": 904, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn904", "evidence": [ { "id": "P14410", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14410#ptm_processing" }, { "id": "20356844", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20356844" }, { "id": "3LPP", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3LPP" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 926, "start_aa": "Asn", "end_pos": 926, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn926", "evidence": [ { "id": "P14410", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14410#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 99, "start_aa": "Asn", "end_pos": 99, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn99", "evidence": [ { "id": "P14410", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14410#ptm_processing" }, { "id": "20356844", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20356844" }, { "id": "3LPO", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3LPO" }, { "id": "3LPP", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3LPP" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P14410", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P14410" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 795, "end_pos": 795, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14410", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14410" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Tyr795" }, { "start_pos": 7, "end_pos": 7, "kinase_uniprot_canonical_ac": "P17612-1", "kinase_gene_name": "PRKACA", "residue": "Ser", "comment": "", "evidence": [ { "database": 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"publication": [ { "title": "Subsite mapping of the human pancreatic alpha-amylase active site through structural, kinetic, and mutagenesis techniques.", "journal": "Biochemistry", "date": "2000", "authors": "Brayer GD, Sidhu G, Maurus R, Rydberg EH, Braun C, Wang Y, Nguyen NT, Overall CM, Withers SG", "evidence": [ { "database": "Reactome", "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085" } ], "reference": [ { "type": "PubMed", "id": "10769135", "url": "https://glygen.org/publication/PubMed/10769135" } ] }, { "title": "Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme.", "journal": "The Journal of clinical investigation", "date": "2000", "authors": "Jacob R, Zimmer KP, Schmitz J, Naim HY", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprot/P14410" }, { "database": "Reactome", "id": "R-HSA-5659898", "url": 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Absence of an inactive enzyme variant.", "journal": "The New England journal of medicine", "date": "1976", "authors": "Gray GM, Conklin KA, Townley RR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5659898", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5659898" } ], "reference": [ { "type": "PubMed", "id": "1256470", "url": "https://glygen.org/publication/PubMed/1256470" } ] }, { "title": "Changing genes; losing lactase.", "journal": "Gut", "date": "2003", "authors": "Grand RJ, Montgomery RK, Chitkara DK, Hirschhorn JN", "evidence": [ { "database": "Reactome", "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085" } ], "reference": [ { "type": "PubMed", "id": "12692040", "url": "https://glygen.org/publication/PubMed/12692040" } ] }, { "title": "Sequence of the complete cDNA and the 5' structure of the human sucrase-isomaltase gene. Possible homology with a yeast glucoamylase.", "journal": "Biochem. J.", "date": "1992", "authors": "Chantret I, Lacasa M, Chevalier G, Ruf J, Islam I, Mantei N, Edwards Y, Swallow D, Rousset M", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprot/P14410" } ], "reference": [ { "type": "PubMed", "id": "1353958", "url": "https://glygen.org/publication/PubMed/1353958" } ] }, { "title": "Genetics of lactase persistence and lactose intolerance.", "journal": "Annual review of genetics", "date": "2003", "authors": "Swallow DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085" } ], "reference": [ { "type": "PubMed", "id": "14616060", "url": "https://glygen.org/publication/PubMed/14616060" } ] }, { "title": "Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum.", "journal": "Gastroenterology", "date": "2003", "authors": "Ritz V, Alfalah M, Zimmer KP, Schmitz J, Jacob R, Naim HY", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprot/P14410" }, { "database": "Reactome", "id": "R-HSA-5659898", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5659898" } ], "reference": [ { "type": "PubMed", "id": "14724820", "url": "https://glygen.org/publication/PubMed/14724820" } ] }, { "title": "Structure of human salivary alpha-amylase at 1.6 A resolution: implications for its role in the oral cavity.", "journal": "Acta crystallographica. Section D, Biological crystallography", "date": "1996", "authors": "Ramasubbu N, Paloth V, Luo Y, Brayer GD, Levine MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085" } ], "reference": [ { "type": "PubMed", "id": "15299664", "url": "https://glygen.org/publication/PubMed/15299664" } ] }, { "title": "Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.", "journal": "Human mutation", "date": "2006", "authors": "Sander P, Alfalah M, Keiser M, Korponay-Szabo I, Kovacs JB, Leeb T, Naim HY", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprot/P14410" }, { "database": "Reactome", "id": "R-HSA-5659898", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5659898" } ], "reference": [ { "type": "PubMed", "id": "16329100", "url": "https://glygen.org/publication/PubMed/16329100" } ] }, { "title": "Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.", "journal": "American journal of human genetics", "date": "2006", "authors": "Kuokkanen M, Kokkonen J, Enattah NS, Ylisaukko-Oja T, Komu H, Varilo T, Peltonen L, Savilahti E, Jarvela I", "evidence": [ { "database": "Reactome", "id": "R-HSA-5659898", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5659898" } ], "reference": [ { "type": "PubMed", "id": "16400612", "url": "https://glygen.org/publication/PubMed/16400612" } ] }, { "title": "Kinetic characterization of recombinant human acidic mammalian chitinase.", "journal": "Biochemistry", "date": "2006", "authors": "Chou YT, Yao S, Czerwinski R, Fleming M, Krykbaev R, Xuan D, Zhou H, Brooks J, Fitz L, Strand J, Presman E, Lin L, Aulabaugh A, Huang X", "evidence": [ { "database": "Reactome", "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085" } ], "reference": [ { "type": "PubMed", "id": "16584180", "url": "https://glygen.org/publication/PubMed/16584180" } ] }, { "title": "Expression of sucrase-isomaltase and dipeptidylpeptidase IV in human small intestine and colon.", "journal": "Gastroenterology", "date": "1991", "authors": "Gorvel JP, Ferrero A, Chambraud L, Rigal A, Bonicel J, Maroux S", "evidence": [ { "database": "UniProtKB", "id": "P14410", "url": "https://www.uniprot.org/uniprot/P14410" } ], "reference": [ { "type": "PubMed", "id": "1677636", "url": "https://glygen.org/publication/PubMed/1677636" } ] }, { "title": "Rabbit small intestinal trehalase. Purification, cDNA cloning, expression, and verification of glycosylphosphatidylinositol anchoring.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Ruf J, Wacker H, James P, Maffia M, Seiler P, Galand G, von Kieckebusch A, Semenza G, Matei N", "evidence": [ { "database": "Reactome", "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085" } ], "reference": [ { "type": "PubMed", "id": "1697585", "url": "https://glygen.org/publication/PubMed/1697585" } ] }, { "title": "Acidic mammalian chitinase is secreted via an ADAM17/epidermal growth factor receptor-dependent pathway and stimulates chemokine production by pulmonary epithelial cells.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Hartl D, He CH, Koller B, Da Silva CA, Homer R, Lee CG, Elias JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085" } ], "reference": [ { 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Sari Emine Erg\u00fcL, Altunta\u015f Cansu, Ersoy Melike, Tuncel Tolga, Onay H\u00fcseyin, Selimo\u011flu Ay\u015fe", "evidence": [ { "database": "RefSeq", "id": "NP_001032", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032" } ], "reference": [ { "type": "PubMed", "id": "37349966", "url": "https://glygen.org/publication/PubMed/37349966" } ] }, { "title": "Topology and quaternary structure of pro-sucrase/isomaltase and final-form sucrase/isomaltase.", "journal": "The Biochemical journal", "date": "1986", "authors": "Cowell GM, Tranum-Jensen J, Sjostrom H, Noren O", "evidence": [ { "database": "Reactome", "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085" } ], "reference": [ { "type": "PubMed", "id": "3800897", "url": "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": "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. 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