{ "uniprot_canonical_ac": "O43280-1", "uniprot_ac": "O43280", "uniprot_id": "TREA_HUMAN", "mass": { "chemical_mass": 66568.0, "monoisotopic_mass": 66568.0 }, "refseq": { "ac": "NP_001287994", "name": "trehalase isoform 2 precursor", "summary": "This gene encodes an enzyme that hydrolyses trehalose, a disaccharide formed from two glucose molecules found mainly in fungi, plants, and insects. A partial duplication of this gene is located adjacent to this locus on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287994" }, "gene_names": [ { "name": "TREH", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43280", "id": "O43280" }, { "name": "TRE; TREA; TREHD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287994", "id": "NP_001287994" }, { "name": "TREA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43280", "id": "O43280" }, { "name": "TREH", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287994", "id": "NP_001287994" } ], "protein_names": [ { "name": "Trehalase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43280" }, { "name": "3.2.1.28", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43280" }, { "name": "Alpha,alpha-trehalase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43280" }, { "name": "Alpha,alpha-trehalose glucohydrolase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43280" }, { "name": "alpha,alpha-trehalose glucohydrolase; trehalase (brush-border membrane glycoprotein)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287994", "id": "NP_001287994" }, { "name": "trehalase isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287994", "id": "NP_001287994" } ], "function": [ { "annotation": "In conclusion, we identified four novel loci (TGFA, PIK3R1, FGFR3 and TREH) and confirmed two loci known to be associated with cartilage thickness.The identified associations were not caused by rare exonic variants. This is the first report linking TGFA to human Osteoarthritis, which may serve as a new target for future therapies. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001287994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287994" }, { "database": "PubMed", "id": "27701424", "url": "https://glygen.org/publication/PubMed/27701424" } ] }, { "annotation": "Intestinal trehalase is probably involved in the hydrolysis of ingested trehalose.", "evidence": [ { "database": "UniProtKB", "id": "O43280", "url": "https://www.uniprot.org/uniprot/O43280#function" }, { "database": "PubMed", "id": "9427547", "url": "https://glygen.org/publication/PubMed/9427547" }, { "database": "PubMed", "id": "8773341", "url": "https://glygen.org/publication/PubMed/8773341" } ] }, { "annotation": "Results suggest a significant association between the RETL1, TREH, and PHLDB1 genes and GBM development in the Han Chinese population Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001287994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287994" }, { "database": "PubMed", "id": "26156397", "url": "https://glygen.org/publication/PubMed/26156397" } ] }, { "annotation": "These results indicate that trehalose has anti-apoptotic effects through the suppression of oxidative stress-induced mitochondrial injury and ER stress which is dependent on the promotion of autophagic flux and the induction of selective autophagy Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001287994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287994" }, { "database": "PubMed", "id": "28981117", "url": "https://glygen.org/publication/PubMed/28981117" } ] }, { "annotation": "This gene encodes an enzyme that hydrolyses trehalose, a disaccharide formed from two glucose molecules found mainly in fungi, plants, and insects. A partial duplication of this gene is located adjacent to this locus on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001287994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287994" } ] }, { "annotation": "Variants in TREH control trehalase activity, and although one of these variants is also reproducibly associated with T2D, it is likely that the effect of the SNP on risk of T2D occurs by a mechanism different than affecting trehalase activity.", "evidence": [ { "database": "RefSeq", "id": "NP_001287994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287994" }, { "database": "PubMed", "id": "23468175", "url": "https://glygen.org/publication/PubMed/23468175" } ] } ], "disease": [ { "disease_id": "MONDO:0012803", "recommended_name": { "id": "MONDO:0012803", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012803", "name": "diarrhea-vomiting due to trehalase deficiency", "description": "This syndrome is characterized by diarrhea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms." }, "synonyms": [ { "id": "MONDO:0012803", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012803", "name": "isolated trehalose intolerance", "description": "" }, { "id": "MONDO:0012803", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012803", "name": "trehalase deficiency", "description": "" }, { "id": "MONDO:0012803", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012803", "name": "trehalose intolerance", "description": "" }, { "id": "MIM:612119", "resource": "MIM", "url": "https://www.omim.org/entry/612119", "name": "Trehalase deficiency", "description": "Trehalase deficiency" } ], "evidence": [ { "id": "612119", "database": "MIM", "url": "https://www.omim.org/entry/612119" } ] } ], "snv": [ { "evidence": [ { "id": "rs1431737145", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1431737145" }, { "id": "rs1431737145", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1431737145#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 241, "end_pos": 241, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->NDA).", "chr_id": "11", "chr_pos": "118661406", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T241", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555144935", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555144935" }, { "id": "rs1555144935", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555144935" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 241, "end_pos": 241, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->NDI).", "chr_id": "11", "chr_pos": "118661405", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T241", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs782768670", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782768670" }, { "id": "rs782768670", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782768670" }, { "id": "rs782768670", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782768670" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 261, "end_pos": 261, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->HRT).", "chr_id": "11", "chr_pos": "118661236", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N261", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555144555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555144555" }, { "id": "rs1555144555", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555144555" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 371, "end_pos": 371, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDS->NDP).", "chr_id": "11", "chr_pos": "118659956", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S371", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555144554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555144554" }, { "id": "rs1555144554", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555144554" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 371, "end_pos": 371, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDS->NDY).", "chr_id": "11", "chr_pos": "118659955", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S371", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43280", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43280" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 389, "end_pos": 389, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "118659902", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T389", "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 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"https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, 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"url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast 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"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": 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"https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", 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"resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43280", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43280" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", 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"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": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43280", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43280" } ], "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": 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"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 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"" }, { "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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"ENSP00000264029.5", "url": "https://www.ensembl.org/id/ENSP00000264029.5" } ] } }, { "isoform_ac": "O43280-2", "url": "", "sequence": { "sequence": "MPGRTWELCLLLLLGLGLGSQEALPPPCESEIYCHGELLNQVQMAKLYQDDKQFVDMPLSIAPEQVLQTFTELSRDHNHSIPREQLQAFVHEHFQAKGQELQPWTPADWKDSPQFLQKISDAKLRAWAGQLHQLWKKLGKKMKPEVLSHPERFSLIYSEHPFIVPGGRFVEFYYCYGHVPNGGRVYYLQRSQPPLLTLMMDCYLTHTNDTAFLQENIETLALELDFWTKNRTVSVSLEGKNYLLNRYYVPYGGPRPESYSKDVELADTLPEGDREALWAELKAGAESGWDFSSRWLIGGPNPNSLSGIRTSKLVPVDLNAFLCQAEELMSNFYSRLGNDSQATKYRILRSQRLAALNTVLWDEQTGAWFDYDLEKKKKNREFYPSNLTPLWAGCFSDPGVADKALKYLEDNRILTYQYGIPTSLQKTGQQWDFPNAWAPLQDLVIRGLAKAPLRRAQEVAFQLAQNWIRTNFDVYSQKSAMYEKYDVSNGGQPGGGGEYEVQEGFGWTNGVVLMLLDRYGDRLTSGAKLAFLEPHCLAATLLPSLLLSLLPW", "length": 552, "header": "sp|O43280-2|TREA_HUMAN Isoform 2 of Trehalase OS=Homo sapiens OX=9606 GN=TREH PE=1 SV=2 CANONICAL=O43280-1" }, "locus": { "chromosome": "11", "start_pos": 118679627, "end_pos": 118658292, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397925.2", "url": "https://www.ensembl.org/id/ENST00000397925.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000381020.2", "url": "https://www.ensembl.org/id/ENSP00000381020.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 239, "start_aa": "Asn", "end_pos": 239, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn239", "evidence": [ { "id": "O43280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43280#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 261, "start_aa": "Asn", "end_pos": 261, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn261", "evidence": [ { "id": "O43280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43280#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 369, "start_aa": "Asn", "end_pos": 369, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn369", "evidence": [ { "id": "O43280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43280#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 78, "start_aa": "Asn", "end_pos": 78, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn78", "evidence": [ { "id": "O43280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43280#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycohydrolase-activity", "glycoprotein", "glycoprotein_reported" ], "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": "Identification of a novel acidic mammalian chitinase distinct from chitotriosidase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Boot RG, Blommaart EF, Swart E, Ghauharali-van der Vlugt K, Bijl N, Moe C, Place A, Aerts JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085" } ], "reference": [ { "type": "PubMed", "id": "11085997", "url": "https://glygen.org/publication/PubMed/11085997" } ] }, { "title": "The maltase-glucoamylase gene: common ancestry to sucrase-isomaltase with complementary starch digestion activities.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Nichols BL, Avery S, Sen P, Swallow DM, Hahn D, Sterchi E", "evidence": [ { "database": "Reactome", "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085" } ], "reference": [ { "type": "PubMed", "id": "12547908", "url": "https://glygen.org/publication/PubMed/12547908" } ] }, { "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": "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": "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": "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": "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": [ { "type": "PubMed", "id": "18824549", "url": "https://glygen.org/publication/PubMed/18824549" } ] }, { "title": "Triad of polar residues implicated in pH specificity of acidic mammalian chitinase.", "journal": "Protein science : a publication of the Protein Society", "date": "2009", "authors": "Olland AM, Strand J, Presman E, Czerwinski R, Joseph-McCarthy D, Krykbaev R, Schlingmann G, Chopra R, Lin L, Fleming M, Kriz R, Stahl M, Somers W, Fitz L, Mosyak L", "evidence": [ { "database": "Reactome", "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085" } ], "reference": [ { "type": "PubMed", "id": "19241384", "url": "https://glygen.org/publication/PubMed/19241384" } ] }, { "title": "Differential enzymatic activity of common haplotypic versions of the human acidic Mammalian chitinase protein.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Seibold MA, Reese TA, Choudhry S, Salam MT, Beckman K, Eng C, Atakilit A, Meade K, Lenoir M, Watson HG, Thyne S, Kumar R, Weiss KB, Grammer LC, Avila P, Schleimer RP, Fahy JV, Rodriguez-Santana J, Rodriguez-Cintron W, Boot RG, Sheppard D, Gilliland FD, Locksley RM, Burchard EG", "evidence": [ { "database": "Reactome", "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085" } ], "reference": [ { "type": "PubMed", "id": "19435888", "url": "https://glygen.org/publication/PubMed/19435888" } ] }, { "title": "Structural hierarchy of regulatory elements in the folding and transport of an intestinal multidomain protein.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Behrendt M, Polaina J, Naim HY", "evidence": [ { "database": "Reactome", "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085" } ], "reference": [ { "type": "PubMed", "id": "19955176", "url": "https://glygen.org/publication/PubMed/19955176" } ] }, { "title": "Structural basis for substrate selectivity in human maltase-glucoamylase and sucrase-isomaltase N-terminal domains.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Sim L, Willemsma C, Mohan S, Naim HY, Pinto BM, Rose DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085" } ], "reference": [ { "type": "PubMed", "id": "20356844", "url": "https://glygen.org/publication/PubMed/20356844" } ] }, { "title": "Identification of genetic variation that determines human trehalase activity and its association with type 2 diabetes.", "journal": "Human genetics", "date": "2013", "authors": "Muller YL, Hanson RL, Knowler WC, Fleming J, Goswami J, Huang K, Traurig M, Sutherland J, Wiedrich C, Wiedrich K, Mahkee D, Ossowski V, Kobes S, Bogardus C, Baier LJ", "evidence": [ { "database": "RefSeq", "id": "NP_001287994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287994" } ], "reference": [ { "type": "PubMed", "id": "23468175", "url": "https://glygen.org/publication/PubMed/23468175" } ] }, { "title": "Concerted evolution of human amylase genes.", "journal": "Molecular and cellular biology", "date": "1988", "authors": "Gumucio DL, Wiebauer K, Caldwell RM, Samuelson LC, Meisler MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085" } ], "reference": [ { "type": "PubMed", "id": "2452973", "url": "https://glygen.org/publication/PubMed/2452973" } ] }, { "title": "Association between RTEL1, PHLDB1, and TREH Polymorphisms and Glioblastoma Risk: A Case-Control Study.", "journal": "Medical science monitor : international medical journal of experimental and clinical research", "date": "2015", "authors": "Yang B, Heng L, Du S, Yang H, Jin T, Lang H, Li S", "evidence": [ { "database": "RefSeq", "id": "NP_001287994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287994" } ], "reference": [ { "type": "PubMed", "id": "26156397", "url": "https://glygen.org/publication/PubMed/26156397" } ] }, { "title": "Novel Genetic Variants for Cartilage Thickness and Hip Osteoarthritis.", "journal": "PLoS genetics", "date": "2016", "authors": "Castano-Betancourt MC, Evans DS, Ramos YF, Boer CG, Metrustry S, Liu Y, den Hollander W, van Rooij J, Kraus VB, Yau MS, Mitchell BD, Muir K, Hofman A, Doherty M, Doherty S, Zhang W, Kraaij R, Rivadeneira F, Barrett-Connor E, Maciewicz RA, Arden N, Nelissen RG, Kloppenburg M, Jordan JM, Nevitt MC, Slagboom EP, Hart DJ, Lafeber F, Styrkarsdottir U, Zeggini E, Evangelou E, Spector TD, Uitterlinden AG, Lane NE, Meulenbelt I, Valdes AM, van Meurs JB", "evidence": [ { "database": "RefSeq", "id": "NP_001287994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287994" } ], "reference": [ { "type": "PubMed", "id": "27701424", "url": "https://glygen.org/publication/PubMed/27701424" } ] }, { "title": "Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.", "journal": "Nature", "date": "2017", "authors": "Saleheen Danish, Natarajan Pradeep, Armean Irina M, Zhao Wei, Rasheed Asif, Khetarpal Sumeet A, Won Hong-Hee, Karczewski Konrad J, O'Donnell-Luria Anne H, Samocha Kaitlin E, Weisburd Benjamin, Gupta Namrata, Zaidi Mozzam, Samuel Maria, Imran Atif, Abbas Shahid, Majeed Faisal, Ishaq Madiha, Akhtar Saba, Trindade Kevin, Mucksavage Megan, Qamar Nadeem, Zaman Khan Shah, Yaqoob Zia, Saghir Tahir, Rizvi Syed Nadeem Hasan, Memon Anis, Hayyat Mallick Nadeem, Ishaq Mohammad, Rasheed Syed Zahed, Memon Fazal-Ur-Rehman, Mahmood Khalid, Ahmed Naveeduddin, Do Ron, Krauss Ronald M, MacArthur Daniel G, Gabriel Stacey, Lander Eric S, Daly Mark J, Frossard Philippe, Danesh John, Rader Daniel J, Kathiresan Sekar", "evidence": [ { "database": "UniProtKB", "id": "O43280", "url": "https://www.uniprot.org/uniprot/O43280" } ], "reference": [ { "type": "PubMed", "id": "28406212", "url": "https://glygen.org/publication/PubMed/28406212" } ] }, { "title": "Trehalose ameliorates oxidative stress-mediated mitochondrial dysfunction and ER stress via selective autophagy stimulation and autophagic flux restoration in osteoarthritis development.", "journal": "Cell death & disease", "date": "2017", "authors": "Tang Q, Zheng G, Feng Z, Chen Y, Lou Y, Wang C, Zhang X, Zhang Y, Xu H, Shang P, Liu H", "evidence": [ { "database": "RefSeq", "id": "NP_001287994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287994" } ], "reference": [ { "type": "PubMed", "id": "28981117", "url": "https://glygen.org/publication/PubMed/28981117" } ] }, { "title": "Trehalase deficiency in Greenland.", "journal": "Scandinavian journal of gastroenterology", "date": "1988", "authors": "Gudmand-Hoyer E, Fenger HJ, Skovbjerg H, Kern-Hansen P, Madsen PR", "evidence": [ { "database": "Reactome", "id": "R-HSA-189085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085" } ], "reference": [ { "type": "PubMed", "id": "3227291", "url": "https://glygen.org/publication/PubMed/3227291" } ] }, { "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": "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": "Human trehalase: characterization, localization, and its increase in urine by renal proximal tubular damage.", "journal": "Nephron", "date": "1996", "authors": "Sasai-Takedatsu M, Taketani S, Nagata N, Furukawa T, Tokunaga R, Kojima T, Kobayashi Y", "evidence": [ { "database": "UniProtKB", "id": "O43280", "url": "https://www.uniprot.org/uniprot/O43280" } ], "reference": [ { "type": "PubMed", "id": "8773341", "url": "https://glygen.org/publication/PubMed/8773341" } ] }, { "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": "UniProtKB", "id": "O43280", "url": "https://www.uniprot.org/uniprot/O43280" }, { "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:11181", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:11181", "resource": "KEGG Pathway" }, { "id": "R-HSA-189085", "name": "Digestion of dietary carbohydrate", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189085", "resource": "Reactome", "description": "Digestion of dietary carbohydrate" } ], "orthologs": [ { "uniprot_canonical_ac": "G3V7Q9-1", "protein_name": "Trehalase", "gene_name": "Treh", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MTWELHLLLLLGLGLSSQEALPPPCESQIYCHGELLHQVQMAQLYQDDKQFVDMSLATSPDEVLQKFSELAVAHNHSIPREELQNFVQSYFQPVGQELQPWTPEDWKDSPQFLQKISDSRLRVWAEELHKIWKKLGKKMKAEVLSHPERSSLIYSEHPFIVPGGRFVEFYYWDSYWVMEGLLLSEMASTVKGMLQNFLDLVKTYGHIPNGGRVYYLQRSHPPLLTLMMERYVAHTNDVAFLRENIGTLALELEFWTVNRTVSVGSGGQSYILNRYYVPYGGPRPESYSKDEELAKTVPEGDRETLWAELKAGAESGWDFSSRWLVGGPDPDLLSSIRTSKMVPADLNAFLCQAEELMSNFYSRLGNDTEAKRYRNLRAQRLAAMEAILWDEQKGAWFDYDLEKGKKNLEFYPSNLTPLWAGCFSDPSVADRALKYLEDNKILTYQYGIPTSLRNTGQQWDFPNAWAPLQDLVIRGLAKSASPRTQEVAFQLAQNWIKTNFKVYSQKSAMYEKYDISNGGHPGGGGEYEVQEGFGWTNGLALMLLDRYGDQLTSGTQLASLGPHCLVTALLLSLLLQ", "length": 576 }, "evidence": [ { "id": "45927105", "url": "http://www.informatics.jax.org/homology/45927105", "database": "MGI" }, { "id": "O43280", "url": "https://omabrowser.org/oma/group/O43280/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9JLT2-1", "protein_name": "Trehalase", "gene_name": "Treh", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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"O43280", "url": "https://www.uniprot.org/uniprot/O43280" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O43280", "url": "https://www.uniprot.org/uniprot/O43280" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O43280", "url": "https://www.uniprot.org/uniprot/O43280" } ], "pmid": "" }, { "name": "side of membrane", "id": "GO:0098552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098552", "evidence": [ { "database": "UniProtKB", "id": "O43280", "url": "https://www.uniprot.org/uniprot/O43280" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "O43280", "url": "https://www.uniprot.org/uniprot/O43280" } ], "pmid": "" }, { "name": "trehalose metabolic process", "id": "GO:0005991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005991", "evidence": [ { "database": "UniProtKB", "id": "O43280", "url": "https://www.uniprot.org/uniprot/O43280" } ], "pmid": "" }, { "name": "trehalose catabolic process", "id": "GO:0005993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005993", "evidence": [ { "database": "UniProtKB", "id": "O43280", "url": "https://www.uniprot.org/uniprot/O43280" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "alpha,alpha-trehalase activity", "id": "GO:0004555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004555", "evidence": [ { "database": "UniProtKB", "id": "O43280", "url": "https://www.uniprot.org/uniprot/O43280" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 239, "end_pos": 241, "annotation": "n_glycosylation_sequon" }, { "start_pos": 261, "end_pos": 263, "annotation": "n_glycosylation_sequon" }, { "start_pos": 369, "end_pos": 371, "annotation": "n_glycosylation_sequon" }, { "start_pos": 417, "end_pos": 419, "annotation": "n_glycosylation_sequon" }, { "start_pos": 78, "end_pos": 80, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "32675", "name": "", "equation": "alpha,alpha-trehalose + H2O = alpha-D-glucose + beta-D-glucose", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "G3V7Q9-1", "O43280-1", "Q9JLT2-1", "P32356-1", "P48016-1", "P35172-1", "Q54QZ5-1", "Q9W2M2-1", "A1ZAE9-1" ], "evidence": [ { "id": "32675", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/32675" } ] }, { "id": "R-HSA-188985", "name": "trehalose + H2O => 2 D-glucose", "equation": "", "summary": "Extracellular trehalose, a disaccharide, is cleaved by trehalase associated with the plasma membrane to yield two molecules of glucose. Trehalase has been purified to homogeneity from rabbit intestine and shown to be a monomer attached to the plasma membrane by a GPI anchor (Galand 1984; Ruf et al. 1990). A human cDNA encoding a closely homologous protein has been cloned and its protein product has been shown to have trehalase activity in vitro (Ishihara et al. 1997). The human enzyme has not been characterized further, and so both the posttranslational modifications of the human enzyme and its activity in vivo have been inferred from the properties of the well studied rabbit enzyme.

Trehalase deficiency has been described in two isolated cases in Europe (Bergoz 1971; Madzarovov\u00e0-Nohejlova 1973) and at high frequency in a population of Greenland natives (Gudmand-Hoyer et al. 1988) but molecular defects responsible for the deficiency have not yet been described so it is not annotated in Reactome.", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [ "R-ALL-189078" ], "output_participant_list": [], "enzyme_list": [ "O43280-1" ], "evidence": [ { "id": "R-HSA-188985", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-188985" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-189078", "participant_name": "alpha,alpha-trehalose [extracellular region]", "crossref": [ { "id": "16551", "database": "ChEBI", "url": "" }, { "id": "000004095531", "database": "ZINC", "url": "" }, { "id": "HMDB0000975", "database": "HMDB Metabolite", "url": "" }, { "id": "C01083", "database": "COMPOUND", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "A1ZAE9", "gene_name": "Dmel\\CG6262", "activity": [ { "ec_number": "3.2.1.28", "activity": "alpha,alpha-trehalose + H2O = alpha-D-glucose + beta-D-glucose.", "evidence": [ { "id": "A1ZAE9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A1ZAE9" } ] }, { "ec_number": "3.2.1.28", "activity": "", "evidence": [ { "id": "A1ZAE9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A1ZAE9" } ] } ] }, { "uniprot_ac": "G3V7Q9", "gene_name": "Treh", "activity": [ { "ec_number": "3.2.1.28", "activity": "alpha,alpha-trehalose + H2O = alpha-D-glucose + beta-D-glucose.", "evidence": [ { "id": "G3V7Q9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/G3V7Q9" } ] }, { "ec_number": "3.2.1.28", "activity": "", "evidence": [ { "id": "G3V7Q9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/G3V7Q9" } ] } ] }, { "uniprot_ac": "O43280", "gene_name": "TREH", "activity": [ { "ec_number": 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"database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35172" } ] }, { "ec_number": "3.2.1.28", "activity": "", "evidence": [ { "id": "P35172", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35172" } ] } ] }, { "uniprot_ac": "P48016", "gene_name": "ATH1", "activity": [ { "ec_number": "3.2.1.28", "activity": "alpha,alpha-trehalose + H2O = alpha-D-glucose + beta-D-glucose.", "evidence": [ { "id": "P48016", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P48016" } ] }, { "ec_number": "3.2.1.28", "activity": "", "evidence": [ { "id": "P48016", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P48016" } ] } ] }, { "uniprot_ac": "Q54QZ5", "gene_name": "treh", "activity": [ { "ec_number": "3.2.1.28", "activity": "alpha,alpha-trehalose + H2O = alpha-D-glucose + beta-D-glucose.", "evidence": [ { "id": "Q54QZ5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54QZ5" } ] }, { "ec_number": "3.2.1.28", "activity": "", 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"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": 1 }, { "field": "total_sites", "count": 1 } ], "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": 8 }, { "field": "total_sites", "count": 6 } ], "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": 33 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }