{ "uniprot_canonical_ac": "P08236-1", "uniprot_ac": "P08236", "uniprot_id": "BGLR_HUMAN", "mass": { "chemical_mass": 74732.0, "monoisotopic_mass": 74732.0 }, "refseq": { "ac": "NP_000172", "name": "beta-glucuronidase isoform 1 precursor", "summary": "This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharidosis type VII. Alternative splicing results in multiple transcript variants. There are many pseudogenes of this locus in the human genome.[provided by RefSeq, May 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000172" }, "gene_names": [ { "name": "GUSB", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08236", "id": "P08236" }, { "name": "BG; MPS7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000172", "id": "NP_000172" }, { "name": "GUSB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000172", "id": "NP_000172" } ], "protein_names": [ { "name": "Beta-glucuronidase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08236" }, { "name": "3.2.1.31", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08236" }, { "name": "Beta-G1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08236" }, { "name": "beta-glucuronidase isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000172", "id": "NP_000172" }, { "name": "beta-glucuronidase; beta-D-glucuronidase; beta-G1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000172", "id": "NP_000172" } ], "function": [ { "annotation": "Macrophages and derived-TNF-alpha promote lipopolysaccharide-induced upregulation of endogenous beta-glucuronidase in the epithelial cells of the bile duct: A possible facilitator of hepatolithiasis formation.", "evidence": [ { "database": "RefSeq", "id": "NP_000172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000172" }, { "database": "PubMed", "id": "36473630", "url": "https://glygen.org/publication/PubMed/36473630" } ] }, { "annotation": "Over-Expression of GUSB Leads to Primary Resistance of Anti-PD1 Therapy in Hepatocellular Carcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000172" }, { "database": "PubMed", "id": "35812439", "url": "https://glygen.org/publication/PubMed/35812439" } ] }, { "annotation": "Plays an important role in the degradation of dermatan and keratan sulfates.", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236#function" } ] }, { "annotation": "Study summarized information on the 49 unique, disease-causing mutations determined so far in the GUS gene. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000172" }, { "database": "PubMed", "id": "19224584", "url": "https://glygen.org/publication/PubMed/19224584" } ] }, { "annotation": "The beta-d-galactosidase, beta-d-glucuronidase and alpha-l-fucosidase activities in serums from hemolyzed blood, were determined.", "evidence": [ { "database": "RefSeq", "id": "NP_000172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000172" }, { "database": "PubMed", "id": "29885630", "url": "https://glygen.org/publication/PubMed/29885630" } ] }, { "annotation": "This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharidosis type VII. Alternative splicing results in multiple transcript variants. There are many pseudogenes of this locus in the human genome.[provided by RefSeq, May 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_000172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000172" } ] }, { "annotation": "We produced GUS from a CHO cell line grown in suspension in a 15 L perfused bioreactor and developed a three step purification procedure that yields approximately 99% pure enzyme with a recovery of more than 40%.", "evidence": [ { "database": "RefSeq", "id": "NP_000172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000172" }, { "database": "PubMed", "id": "28734840", "url": "https://glygen.org/publication/PubMed/28734840" } ] } ], "disease": [ { "disease_id": "DOID:12803", "recommended_name": { "id": "DOID:12803", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12803", "name": "Sly syndrome", "description": "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans." }, "synonyms": [ { "id": "DOID:12803", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12803", "name": "MPS VII - Sly syndrome", "description": "" }, { "id": "DOID:12803", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12803", "name": "beta-glucuronidase deficiency", "description": "" }, { "id": "DOID:12803", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12803", "name": "deficiency of beta-glucuronidase", "description": "" }, { "id": "DOID:12803", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12803", "name": "mucopolysaccharidosis VII", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "mucopolysaccharidosis type 7", "description": "Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses." }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "Beta-glucuronidase deficiency", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "MPS VII - Sly syndrome", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "MPS7", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "MPSVII", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "Sly disease", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "Sly syndrome", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "beta-glucuronidase deficiency", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "deficiency of beta-glucuronidase", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "mucopolysaccharidosis VII", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "mucopolysaccharidosis type 7", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "mucopolysaccharidosis type VII", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "mucopolysaccharidosis, mps-VII", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "Gus deficiency", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "Gusb deficiency", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "MPS 7", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "MPS VII", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "MPS VII - mucopolysaccharidosis VII", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "gusb deficiency", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "mucopolysaccharidosis, type 7", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "mucopolysaccharidosis, type VII", "description": "" }, { "id": "MIM:253220", "resource": "MIM", "url": "https://www.omim.org/entry/253220", "name": "Mucopolysaccharidosis 7", "description": "Mucopolysaccharidosis 7" } ], "evidence": [ { "id": "0009662", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662" }, { "id": "253220", "database": "MIM", "url": "https://www.omim.org/entry/253220" }, { "id": "2990", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2990#disease" } ] } ], "snv": [ { "evidence": [ { "id": "rs149606212", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149606212" }, { "id": "rs149606212", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149606212" }, { "id": "rs149606212", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149606212" }, { "id": "rs149606212", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149606212#frequency_tab" }, { "id": "rs149606212", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149606212" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 152, "end_pos": 152, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DIS->NIS).", "chr_id": "7", "chr_pos": "65979854", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000599", "site_lbl": "D152", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:12803", "recommended_name": { "id": "DOID:12803", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12803", "name": "Sly syndrome", "description": "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans." }, "synonyms": [ { "id": "DOID:12803", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12803", "name": "MPS VII - Sly syndrome", "description": "" }, { "id": "DOID:12803", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12803", "name": "beta-glucuronidase deficiency", "description": "" }, { "id": "DOID:12803", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12803", "name": "deficiency of beta-glucuronidase", "description": "" }, { "id": "DOID:12803", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12803", "name": "mucopolysaccharidosis VII", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "mucopolysaccharidosis type 7", "description": "Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses." }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "Beta-glucuronidase deficiency", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "MPS VII - Sly syndrome", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "MPS7", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "MPSVII", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "Sly disease", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "Sly syndrome", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "beta-glucuronidase deficiency", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "deficiency of beta-glucuronidase", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "mucopolysaccharidosis VII", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "mucopolysaccharidosis type 7", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "mucopolysaccharidosis type VII", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "mucopolysaccharidosis, mps-VII", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "Gus deficiency", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "Gusb deficiency", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "MPS 7", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "MPS VII", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "MPS VII - mucopolysaccharidosis VII", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "gusb deficiency", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "mucopolysaccharidosis, type 7", "description": "" }, { "id": "MONDO:0009662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009662", "name": "mucopolysaccharidosis, type VII", "description": "" }, { "id": "MIM:253220", "resource": "MIM", "url": "https://www.omim.org/entry/253220", "name": "Mucopolysaccharidosis 7", "description": "Mucopolysaccharidosis 7" } ] } ] }, { "evidence": [ { "id": "rs996983482", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs996983482" }, { "id": "rs996983482", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs996983482" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 173, "end_pos": 173, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->SNT).", "chr_id": "7", "chr_pos": "65979790", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N173", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1324117131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1324117131" }, { "id": "rs1324117131", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1324117131" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 175, "end_pos": 175, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->NNA).", "chr_id": "7", "chr_pos": "65979785", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T175", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1469827211", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1469827211" }, { "id": "rs1469827211", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1469827211#frequency_tab" }, { "id": "rs1469827211", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1469827211" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 234, "end_pos": 234, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TTS->NTS).", "chr_id": "7", "chr_pos": "65979422", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T234", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs74410123", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs74410123" }, { "id": "rs74410123", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs74410123" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 381, "end_pos": 381, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAF->NAS).", "chr_id": "7", "chr_pos": "65974628", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F381", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1311870787", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1311870787" }, { "id": "rs1311870787", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1311870787" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 420, "end_pos": 420, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->SVS).", "chr_id": "7", "chr_pos": "65974427", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N420", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P08236", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08236" } ], "glycoeffect": [], "start_pos": 468, "end_pos": 468, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "65970356", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A468", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "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": "" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P08236", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08236" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 486, "end_pos": 486, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NSN->NST).", "chr_id": "7", "chr_pos": "65970301", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N486", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs752576315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752576315" }, { "id": "rs752576315", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752576315" }, { "id": "rs752576315", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752576315" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 631, "end_pos": 631, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->HET).", "chr_id": "7", "chr_pos": "65960962", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N631", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780999350", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780999350" }, { "id": "rs780999350", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780999350" }, { "id": "rs780999350", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780999350#frequency_tab" }, { "id": "rs780999350", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780999350" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 631, "end_pos": 631, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->SET).", "chr_id": "7", "chr_pos": "65960961", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N631", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754474825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754474825" }, { "id": "rs754474825", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754474825" }, { "id": "rs754474825", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754474825" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 633, "end_pos": 633, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->NEI).", "chr_id": "7", "chr_pos": "65960955", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T633", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1583879538", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1583879538" }, { "id": "rs1583879538", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1583879538" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 633, "end_pos": 633, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->NEP).", "chr_id": "7", "chr_pos": "65960956", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T633", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "92.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169919" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "91.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169919" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "93.05", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169919" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "73.78", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169919" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "94.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169919" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "96.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169919" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "92.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169919" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "92.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169919" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "94.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169919" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "89.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169919" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "95.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169919" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "93.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169919" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "94.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169919" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P08236", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08236" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P08236", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08236" } ], "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": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P08236", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08236" } ], "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": "P08236", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08236" } ], "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": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P08236", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08236" } ], "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": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "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, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "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" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P08236", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08236" } ], "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" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P08236", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08236" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P08236", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08236" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P08236", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08236" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P08236", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08236" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P08236", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08236" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P08236", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08236" } ], "disease": [ { "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 or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "common_name": "Human" } ], "gene": [ { "name": "GUSB", "url": "https://www.uniprot.org/uniprot/P08236", "locus": { "chromosome": "7", "start_pos": 65960684, "end_pos": 65982215, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000169919", "url": "https://www.ensembl.org/id/ENSG00000169919" } ] } } ], "crossref": [ { "id": "ENSG00000169919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169919", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P08236", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08236", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "3.2.1.31", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=3.2.1.31&UniProtAcc=P08236", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "GH2", "url": "http://www.cazy.org/GH2.html", "database": "CAZy", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL2728", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL2728", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "GUSB", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=GUSB", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "2990", "url": "https://www.ncbi.nlm.nih.gov/gene/2990", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "1037", "url": "https://glyconnect.expasy.org/browser/proteins/1037", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "4696", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4696", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P08236", "url": "https://www.ebi.ac.uk/intact/interactors/id:P08236*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR006101", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006101", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR006102", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006102", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR006103", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006103", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR006104", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006104", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008979", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008979", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017853", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017853", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023230", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023230", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023232", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023232", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036156", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036156", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:2990", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2990", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "253220", "url": "http://www.omim.org/entry/253220", "database": "MIM", "categories": [ "Other" ] }, { "id": "611499", "url": "http://www.omim.org/entry/611499", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P08236", "url": "https://www.nextprot.org/entry/NX_P08236", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P08236", "url": "https://oglcnac.org/atlas/detail/P08236", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P08236", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08236", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "IHDHVGW", "url": "https://omabrowser.org/oma/group/IHDHVGW/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1847696at2759", "url": "http://www.orthodb.org/?query=1847696at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10066", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10066", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10066:SF67", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10066:SF67", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1BHG", "url": "https://www.rcsb.org/structure/1BHG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3HN3", "url": "https://www.rcsb.org/structure/3HN3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00703", "url": "http://pfam.xfam.org/family/PF00703", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02836", "url": "http://pfam.xfam.org/family/PF02836", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02837", "url": "http://pfam.xfam.org/family/PF02837", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P08236", "url": "https://pharos.nih.gov/targets/P08236", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000054440", "url": "https://proconsortium.org/app/entry/PR:000054440", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_P08236", "url": "http://purl.obolibrary.org/obo/PR_P08236", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2206292", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2206292", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000172", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "17633", "url": "https://www.rhea-db.org/rhea/17633", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "P08236", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "F2Z3L6", "url": "https://www.uniprot.org/uniprot/F2Z3L6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F2Z3L6-1", "url": "https://www.uniprot.org/uniprot/F2Z3L6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WBK6", "url": "https://www.uniprot.org/uniprot/F8WBK6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WBK6-1", "url": "https://www.uniprot.org/uniprot/F8WBK6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08236-1", "url": "https://www.uniprot.org/uniprot/P08236-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08236-2", "url": "https://www.uniprot.org/uniprot/P08236-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08236-3", "url": "https://www.uniprot.org/uniprot/P08236-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MARGSAVAWAALGPLLWGCALGLQGGMLYPQESPSRECKELDGLWSFRADFSDNRRRGFEEQWYRRPLWESGPTVDMPVPSSFNDISQDWRLRHFVGWVWYEREVILPERWTQDLRTRVVLRIGSAHSYAIVWVNGVDTLEHEGGYLPFEADISNLVQVGPLPSRLRITIAINNTLTPTTLPPGTIQYLTDTSKYPKGYFVQNTYFDFFNYAGLQRSVLLYTTPTTYIDDITVTTSVEQDSGLVNYQISVKGSNLFKLEVRLLDAENKVVANGTGTQGQLKVPGVSLWWPYLMHERPAYLYSLEVQLTAQTSLGPVSDFYTLPVGIRTVAVTKSQFLINGKPFYFHGVNKHEDADIRGKGFDWPLLVKDFNLLRWLGANAFRTSHYPYAEEVMQMCDRYGIVVIDECPGVGLALPQFFNNVSLHHHMQVMEEVVRRDKNHPAVVMWSVANEPASHLESAGYYLKMVIAHTKSLDPSRPVTFVSNSNYAADKGAPYVDVICLNSYYSWYHDYGHLELIQLQLATQFENWYKKYQKPIIQSEYGAETIAGFHQDPPLMFTEEYQKSLLEQYHLGLDQKRRKYVVGELIWNFADFMTEQSPTRVLGNKKGIFTRQRQPKSAAFLLRERYWKIANETRYPHSVAKSQCLENSLFT", "length": 651, "header": "sp|P08236-1|BGLR_HUMAN Isoform 1 of Beta-glucuronidase OS=Homo sapiens OX=9606 GN=GUSB PE=1 SV=2 CANONICAL=P08236-1" }, "isoforms": [ { "isoform_ac": "F2Z3L6-1", "url": "", "sequence": { "sequence": "MARGSAVAWAALGPLLWGCALGLQGGMLYPQESPSRECKELDGLWSFRADFSDNRRRGFEEQWYRRPLWESGPTVDMPVPSSFNDISQDWRLRHFVGWVWYEREVILPERWTQDLRTRVVLRIGSAHSYAIVVSQGLLCPEHIF", "length": 144, "header": "tr|F2Z3L6-1|F2Z3L6_HUMAN Computationally mapped isoform of Glucuronidase beta OS=Homo sapiens OX=9606 GN=GUSB PE=1 SV=1 CANONICAL=P08236-1" }, "locus": { "chromosome": "7", "start_pos": 65982183, "end_pos": 65979506, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000446111.1", "url": "https://www.ensembl.org/id/ENST00000446111.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000416793.1", "url": "https://www.ensembl.org/id/ENSP00000416793.1" } ] } }, { "isoform_ac": "F8WBK6-1", "url": "", "sequence": { "sequence": "MARGSAVAWAALGPLLWGCALGLQGGMLYPQESPSRECKELDGLWSFRADFSDNRRRGFEEQWYRRPLWESGPTVDMPVPSSFNDISQDWRLRHFVGWVWYEREVILPERWTQDLRTRVVLRIGSAHSYAIVGW", "length": 134, "header": "tr|F8WBK6-1|F8WBK6_HUMAN Computationally mapped isoform of Glucuronidase beta OS=Homo sapiens OX=9606 GN=GUSB PE=1 SV=1 CANONICAL=P08236-1" }, "locus": { "chromosome": "7", "start_pos": 65982183, "end_pos": 65976197, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000430730.5", "url": "https://www.ensembl.org/id/ENST00000430730.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000411859.1", "url": "https://www.ensembl.org/id/ENSP00000411859.1" } ] } }, { "isoform_ac": "P08236-1", "url": "", "sequence": { "sequence": "MARGSAVAWAALGPLLWGCALGLQGGMLYPQESPSRECKELDGLWSFRADFSDNRRRGFEEQWYRRPLWESGPTVDMPVPSSFNDISQDWRLRHFVGWVWYEREVILPERWTQDLRTRVVLRIGSAHSYAIVWVNGVDTLEHEGGYLPFEADISNLVQVGPLPSRLRITIAINNTLTPTTLPPGTIQYLTDTSKYPKGYFVQNTYFDFFNYAGLQRSVLLYTTPTTYIDDITVTTSVEQDSGLVNYQISVKGSNLFKLEVRLLDAENKVVANGTGTQGQLKVPGVSLWWPYLMHERPAYLYSLEVQLTAQTSLGPVSDFYTLPVGIRTVAVTKSQFLINGKPFYFHGVNKHEDADIRGKGFDWPLLVKDFNLLRWLGANAFRTSHYPYAEEVMQMCDRYGIVVIDECPGVGLALPQFFNNVSLHHHMQVMEEVVRRDKNHPAVVMWSVANEPASHLESAGYYLKMVIAHTKSLDPSRPVTFVSNSNYAADKGAPYVDVICLNSYYSWYHDYGHLELIQLQLATQFENWYKKYQKPIIQSEYGAETIAGFHQDPPLMFTEEYQKSLLEQYHLGLDQKRRKYVVGELIWNFADFMTEQSPTRVLGNKKGIFTRQRQPKSAAFLLRERYWKIANETRYPHSVAKSQCLENSLFT", "length": 651, "header": "sp|P08236-1|BGLR_HUMAN Isoform 1 of Beta-glucuronidase OS=Homo sapiens OX=9606 GN=GUSB PE=1 SV=2 CANONICAL=P08236-1" }, "locus": { "chromosome": "7", "start_pos": 65982183, "end_pos": 65960900, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000304895.9", "url": "https://www.ensembl.org/id/ENST00000304895.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000302728.4", "url": "https://www.ensembl.org/id/ENSP00000302728.4" } ] } }, { "isoform_ac": "P08236-2", "url": "", "sequence": { "sequence": "MARGSAVAWAALGPLLWGCALGLQGGMLYPQESPSRECKELDGLWSFRADFSDNRRRGFEEQWYRRPLWESGPTVDMPVPSSFNDISQDWRLRHFVGWVWYEREVILPERWTQDLRTRVVLRIGSAHSYAIVWVNGVDTLEHEGGYLPFEADISNLVQVGPLPSRLRITIAINNTLTPTTLPPGTIQYLTDTSKYPKGYFVQNTYFDFFNYAGLQRSVLLYTTPTTYIDDITVTTSVEQDSGLVNYQISVKGSNLFKLEVRLLDAENKVVANGTGTQGQLKVPGVSLWWPYLMHERPAYLYSLEIRGKGFDWPLLVKDFNLLRWLGANAFRTSHYPYAEEVMQMCDRYGIVVIDECPGVGLALPQFFNNVSLHHHMQVMEEVVRRDKNHPAVVMWSVANEPASHLESAGYYLKMVIAHTKSLDPSRPVTFVSNSNYAADKGAPYVDVICLNSYYSWYHDYGHLELIQLQLATQFENWYKKYQKPIIQSEYGAETIAGFHQDPPLMFTEEYQKSLLEQYHLGLDQKRRKYVVGELIWNFADFMTEQSPTRVLGNKKGIFTRQRQPKSAAFLLRERYWKIANETRYPHSVAKSQCLENSLFT", "length": 600, "header": "sp|P08236-2|BGLR_HUMAN Isoform 2 of Beta-glucuronidase OS=Homo sapiens OX=9606 GN=GUSB PE=1 SV=2 CANONICAL=P08236-1" }, "locus": {} }, { "isoform_ac": "P08236-3", "url": "", "sequence": { "sequence": "MARGSAVAWAALGPLLWGCALGLQGGMLYPQESPSRECKELDGLWSFRADFSDNRRRGFEEQWYRRPLWESGPTVDMPVPSSFNDISQDWRLRHFVGWVWYEREVILPERWTQDLRTRVVLRIGSAHSYAIVWVNGVDTLEHEGGYLPFEADISNLVQVQLTAQTSLGPVSDFYTLPVGIRTVAVTKSQFLINGKPFYFHGVNKHEDADIRGKGFDWPLLVKDFNLLRWLGANAFRTSHYPYAEEVMQMCDRYGIVVIDECPGVGLALPQFFNNVSLHHHMQVMEEVVRRDKNHPAVVMWSVANEPASHLESAGYYLKMVIAHTKSLDPSRPVTFVSNSNYAADKGAPYVDVICLNSYYSWYHDYGHLELIQLQLATQFENWYKKYQKPIIQSEYGAETIAGFHQDPPLMFTEEYQKSLLEQYHLGLDQKRRKYVVGELIWNFADFMTEQSPTRVLGNKKGIFTRQRQPKSAAFLLRERYWKIANETRYPHSVAKSQCLENSLFT", "length": 505, "header": "sp|P08236-3|BGLR_HUMAN Isoform 3 of Beta-glucuronidase OS=Homo sapiens OX=9606 GN=GUSB PE=1 SV=2 CANONICAL=P08236-1" }, "locus": { "chromosome": "7", "start_pos": 65982183, "end_pos": 65960900, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000421103.5", "url": "https://www.ensembl.org/id/ENST00000421103.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000391390.1", "url": "https://www.ensembl.org/id/ENSP00000391390.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G06231AO", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 173, "start_aa": "Asn", "end_pos": 173, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn173", "evidence": [ { "id": "P08236", "database": "UniCarbKB", "url": "" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G39619TI", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 173, "start_aa": "Asn", "end_pos": 173, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn173", "evidence": [ { "id": "1037", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1037" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G46524LG", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 173, "start_aa": "Asn", "end_pos": 173, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn173", "evidence": [ { "id": "1037", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1037" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G47448YK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 173, "start_aa": "Asn", "end_pos": 173, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn173", "evidence": [ { "id": "1037", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1037" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G48584BU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 173, "start_aa": "Asn", "end_pos": 173, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn173", "evidence": [ { "id": "1037", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1037" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "high-energy collision-induced dissociation", "start_pos": 173, "start_aa": "Asn", "end_pos": 173, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn173", "evidence": [ { "id": "P08236", "database": "UniCarbKB", "url": "" }, { "id": "34089345", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34089345" }, { "id": "10.1007/s00018-021-03863-1", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1007/s00018-021-03863-1" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 173, "start_aa": "Asn", "end_pos": 173, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn173", "evidence": [ { "id": "1037", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1037" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 173, "start_aa": "Asn", "end_pos": 173, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn173", "evidence": [ { "id": "1037", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1037" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "high-energy collision-induced dissociation", "start_pos": 173, "start_aa": "Asn", "end_pos": 173, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn173", "evidence": [ { "id": "P08236", "database": "UniCarbKB", "url": "" }, { "id": "34089345", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34089345" }, { "id": "10.1007/s00018-021-03863-1", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1007/s00018-021-03863-1" } ] }, { "glytoucan_ac": "G92062TF", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 173, "start_aa": "Asn", "end_pos": 173, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn173", "evidence": [ { "id": "1037", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1037" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 173, "start_aa": "Asn", "end_pos": 173, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn173", "evidence": [ { "id": "P08236", "database": "UniCarbKB", "url": "" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "P08236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08236#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 174, "start_aa": "Asn", "end_pos": 174, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn174", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "high-energy collision-induced dissociation", "start_pos": 272, "start_aa": "Asn", "end_pos": 272, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn272", "evidence": [ { "id": "P08236", "database": "UniCarbKB", "url": "" }, { "id": "34089345", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34089345" }, { "id": "10.1007/s00018-021-03863-1", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1007/s00018-021-03863-1" } ] }, { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "high-energy collision-induced dissociation", "start_pos": 272, "start_aa": "Asn", "end_pos": 272, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn272", "evidence": [ { "id": "P08236", "database": "UniCarbKB", "url": "" }, { "id": "34089345", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34089345" }, { "id": "10.1007/s00018-021-03863-1", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1007/s00018-021-03863-1" } ] }, { "glytoucan_ac": "G41247ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "high-energy collision-induced dissociation", "start_pos": 272, "start_aa": "Asn", "end_pos": 272, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn272", "evidence": [ { "id": "P08236", "database": "UniCarbKB", "url": "" }, { "id": "34089345", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34089345" }, { "id": "10.1007/s00018-021-03863-1", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1007/s00018-021-03863-1" } ] }, { "glytoucan_ac": "G46524LG", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 272, "start_aa": "Asn", "end_pos": 272, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn272", "evidence": [ { "id": "1037", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1037" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "high-energy collision-induced dissociation", "start_pos": 272, "start_aa": "Asn", "end_pos": 272, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn272", "evidence": [ { "id": "P08236", "database": "UniCarbKB", "url": "" }, { "id": "34089345", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34089345" }, { "id": "10.1007/s00018-021-03863-1", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1007/s00018-021-03863-1" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 272, "start_aa": "Asn", "end_pos": 272, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn272", "evidence": [ { "id": "1037", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1037" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 272, "start_aa": "Asn", "end_pos": 272, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn272", "evidence": [ { "id": "1037", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1037" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G74724QE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 272, "start_aa": "Asn", "end_pos": 272, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn272", "evidence": [ { "id": "1037", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1037" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G92050GC", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "high-energy collision-induced dissociation", "start_pos": 272, "start_aa": "Asn", "end_pos": 272, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn272", "evidence": [ { "id": "P08236", "database": "UniCarbKB", "url": "" }, { "id": "34089345", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34089345" }, { "id": "10.1007/s00018-021-03863-1", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1007/s00018-021-03863-1" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 272, "start_aa": "Asn", "end_pos": 272, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn272", "evidence": [ { "id": "P08236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08236#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" }, { "id": "12754519", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/12754519" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 274, "start_aa": "Thr", "end_pos": 274, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr274", "evidence": [ { "id": "P08236", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08236" }, { "id": "30444036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30444036" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "P08236", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P08236" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 276, "start_aa": "Thr", "end_pos": 276, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr276", "evidence": [ { "id": "P08236", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P08236" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 420, "start_aa": "Asn", "end_pos": 420, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn420", "evidence": [ { "id": "P08236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08236#ptm_processing" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 631, "start_aa": "Asn", "end_pos": 631, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn631", "evidence": [ { "id": "1037", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1037" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 631, "start_aa": "Asn", "end_pos": 631, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn631", "evidence": [ { "id": "1037", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1037" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 631, "start_aa": "Asn", "end_pos": 631, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn631", "evidence": [ { "id": "1037", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1037" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 631, "start_aa": "Asn", "end_pos": 631, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn631", "evidence": [ { "id": "1037", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1037" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 631, "start_aa": "Asn", "end_pos": 631, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn631", "evidence": [ { "id": "P08236", "database": "UniCarbKB", "url": "" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "P08236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08236#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] } ], "phosphorylation": [ { "start_pos": 274, "end_pos": 274, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08236", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08236" }, { "database": "PubMed", "id": "8505339", "url": "https://glygen.org/publication/PubMed/8505339" }, { "database": "phospho.ELM", "id": "P08236", "url": "http://phospho.elm.eu.org/byAccession/P08236.html" } ], "site_lbl": "Thr274" } ], "glycation": [], "keywords": [ "enzyme", "glycohydrolase-activity", "glycoprotein", "glycoprotein_reported", "glycoprotein_reported_with_glycan", "glycoprotein_predicted" ], "publication": [ { "title": "Tumor cells express pauci- and oligomannosidic N-glycans in glycoproteins recognized by the mannose receptor (CD206)", "journal": "Cell Mol Life Sci", "date": "2021", "authors": "Stavenhagen K., Laan L.C., Gao C., Mehta A.Y., Heimburg-Molinaro J., Glickman J.N., van Die I., Cummings R.D.", "evidence": [ { "database": "UniCarbKB", "id": "P08236", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1007/s00018-021-03863-1", "url": "https://glygen.org/publication/DOI/10.1007/s00018-021-03863-1" } ] }, { "title": "LYVE-1, a new homologue of the CD44 glycoprotein, is a lymph-specific receptor for hyaluronan.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Banerji S, Ni J, Wang SX, Clasper S, Su J, Tammi R, Jones M, Jackson DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "10037799", "url": "https://glygen.org/publication/PubMed/10037799" } ] }, { "title": "Human heparanase. Purification, characterization, cloning, and expression.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Toyoshima M, Nakajima M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "10446189", "url": "https://glygen.org/publication/PubMed/10446189" } ] }, { "title": "Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity.", "journal": "Clinical genetics", "date": "1999", "authors": "Lee-Chen GJ, Lin SP, Tang YF, Chin YW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "10466419", "url": "https://glygen.org/publication/PubMed/10466419" } ] }, { "title": "Cloning and expression profiling of Hpa2, a novel mammalian heparanase family member.", "journal": "Biochemical and biophysical research communications", "date": "2000", "authors": "McKenzie E, Tyson K, Stamps A, Smith P, Turner P, Barry R, Hircock M, Patel S, Barry E, Stubberfield C, Terrett J, Page M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "11027606", "url": "https://glygen.org/publication/PubMed/11027606" } ] }, { "title": "Calcineurin homologous protein as an essential cofactor for Na+/H+ exchangers.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Pang T, Su X, Wakabayashi S, Shigekawa M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "11350981", "url": "https://glygen.org/publication/PubMed/11350981" } ] }, { "title": "A novel inhibitor of beta-glucuronidase: L-aspartic acid.", "journal": "Pediatr. Res.", "date": "2001", "authors": "Kreamer BL, Siegel FL, Gourley GR", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" }, { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "11568288", "url": "https://glygen.org/publication/PubMed/11568288" } ] }, { "title": "Structural recognition by recombinant human heparanase that plays critical roles in tumor metastasis. Hierarchical sulfate groups with different effects and the essential target disulfated trisaccharide sequence.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Okada Y, Yamada S, Toyoshima M, Dong J, Nakajima M, Sugahara K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "12213822", "url": "https://glygen.org/publication/PubMed/12213822" } ] }, { "title": "Human heparanase is localized within lysosomes in a stable form.", "journal": "Experimental cell research", "date": "2002", "authors": "Goldshmidt O, Nadav L, Aingorn H, Irit C, Feinstein N, Ilan N, Zamir E, Geiger B, Vlodavsky I, Katz BZ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "12441129", "url": "https://glygen.org/publication/PubMed/12441129" } ] }, { "title": "Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.", "journal": "Human genetics", "date": "2003", "authors": "Storch S, Wittenstein B, Islam R, Ullrich K, Sly WS, Braulke T", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "reference": [ { "type": "PubMed", "id": "12522561", "url": "https://glygen.org/publication/PubMed/12522561" } ] }, { "title": "Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.", "journal": "Nature biotechnology", "date": "2003", "authors": "Zhang H, Li XJ, Martin DB, Aebersold R", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236#ptm_processing" }, { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "reference": [ { "type": "PubMed", "id": "12754519", "url": "https://glygen.org/publication/PubMed/12754519" } ] }, { "title": "Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family.", "journal": "Clinical genetics", "date": "2003", "authors": "Schwartz I, Silva LR, Leistner S, Todeschini LA, Burin MG, Pina-Neto JM, Islam RM, Shah GN, Sly WS, Giugliani R", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "reference": [ { "type": "PubMed", "id": "12859417", "url": "https://glygen.org/publication/PubMed/12859417" } ] }, { "title": "Heterodimer formation is essential for heparanase enzymatic activity.", "journal": "Biochemical and biophysical research communications", "date": "2003", "authors": "Levy-Adam F, Miao HQ, Heinrikson RL, Vlodavsky I, Ilan N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "12927802", "url": "https://glygen.org/publication/PubMed/12927802" } ] }, { "title": "Characterization of the subunits and sugar moiety of human placental and leukemic beta-glucuronidase.", "journal": "Biol. Chem. Hoppe-Seyler", "date": "1992", "authors": "Tanaka J, Gasa S, Sakurada K, Miyazaki T, Kasai M, Makita A", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "reference": [ { "type": "PubMed", "id": "1311180", "url": "https://glygen.org/publication/PubMed/1311180" } ] }, { "title": "Hyaluronate binding and CD44 expression in human glioblastoma cells and astrocytes.", "journal": "Experimental cell research", "date": "1992", "authors": "Asher R, Bignami A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "1426053", "url": "https://glygen.org/publication/PubMed/1426053" } ] }, { "title": "Role of calcineurin B homologous protein in pH regulation by the Na+/H+ exchanger 1: tightly bound Ca2+ ions as important structural elements.", "journal": "Biochemistry", "date": "2004", "authors": "Pang T, Hisamitsu T, Mori H, Shigekawa M, Wakabayashi S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "15035633", "url": "https://glygen.org/publication/PubMed/15035633" } ] }, { "title": "CD44 interaction with Na+-H+ exchanger (NHE1) creates acidic microenvironments leading to hyaluronidase-2 and cathepsin B activation and breast tumor cell invasion.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Bourguignon LY, Singleton PA, Diedrich F, Stern R, Gilad E", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "15090545", "url": "https://glygen.org/publication/PubMed/15090545" } ] }, { "title": "Endocytic function, glycosaminoglycan specificity, and antibody sensitivity of the recombinant human 190-kDa hyaluronan receptor for endocytosis (HARE).", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Harris EN, Weigel JA, Weigel PH", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "15208308", "url": "https://glygen.org/publication/PubMed/15208308" } ] }, { "title": "Lysosomal metabolism of glycoproteins.", "journal": "Glycobiology", "date": "2005", "authors": "Winchester B", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "15647514", "url": "https://glygen.org/publication/PubMed/15647514" } ] }, { "title": "Structures of vertebrate hyaluronidases and their unique enzymatic mechanism of hydrolysis.", "journal": "Proteins", "date": "2005", "authors": "Jedrzejas MJ, Stern R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "16104017", "url": "https://glygen.org/publication/PubMed/16104017" } ] }, { "title": "Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).", "journal": "Journal of inherited metabolic disease", "date": "2005", "authors": "Beesley CE, Jackson M, Young EP, Vellodi A, Winchester BG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "16151907", "url": "https://glygen.org/publication/PubMed/16151907" } ] }, { "title": "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.", "journal": "Journal of proteome research", "date": "2005", "authors": "Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236#ptm_processing" }, { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "reference": [ { "type": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" } ] }, { "title": "Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C).", "journal": "American journal of human genetics", "date": "2006", "authors": "Fan X, Zhang H, Zhang S, Bagshaw RD, Tropak MB, Callahan JW, Mahuran DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "16960811", "url": "https://glygen.org/publication/PubMed/16960811" } ] }, { "title": "Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity.", "journal": "American journal of human genetics", "date": "1991", "authors": "Tomatsu S, Fukuda S, Sukegawa K, Ikedo Y, Yamada S, Yamada Y, Sasaki T, Okamoto H, Kuwahara T, Yamaguchi S, et al.", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "reference": [ { "type": "PubMed", "id": "1702266", "url": "https://glygen.org/publication/PubMed/1702266" } ] }, { "title": "Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).", "journal": "American journal of human genetics", "date": "2006", "authors": "Hrebicek M, Mrazova L, Seyrantepe V, Durand S, Roslin NM, Noskova L, Hartmannova H, Ivanek R, Cizkova A, Poupetova H, Sikora J, Urinovska J, Stranecky V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "17033958", "url": "https://glygen.org/publication/PubMed/17033958" } ] }, { "title": "The hyaluronate receptor is a member of the CD44 (H-CAM) family of cell surface glycoproteins.", "journal": "The Journal of cell biology", "date": "1990", "authors": "Culty M, Miyake K, Kincade PW, Sikorski E, Butcher EC, Underhill C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "1703543", "url": "https://glygen.org/publication/PubMed/1703543" } ] }, { "title": "Solution structure of the cytoplasmic region of Na+/H+ exchanger 1 complexed with essential cofactor calcineurin B homologous protein 1.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Mishima M, Wakabayashi S, Kojima C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "17050540", "url": "https://glygen.org/publication/PubMed/17050540" } ] }, { "title": "Expression, processing, and glycosaminoglycan binding activity of the recombinant human 315-kDa hyaluronic acid receptor for endocytosis (HARE).", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Harris EN, Kyosseva SV, Weigel JA, Weigel PH", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "17145755", "url": "https://glygen.org/publication/PubMed/17145755" } ] }, { "title": "The human hyaluronan receptor for endocytosis (HARE/Stabilin-2) is a systemic clearance receptor for heparin.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Harris EN, Weigel JA, Weigel PH", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "18434317", "url": "https://glygen.org/publication/PubMed/18434317" } ] }, { "title": "Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.", "journal": "American journal of human genetics", "date": "1991", "authors": "Yoshida K, Oshima A, Shimmoto M, Fukuhara Y, Sakuraba H, Yanagisawa N, Suzuki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "1907800", "url": "https://glygen.org/publication/PubMed/1907800" } ] }, { "title": "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.", "journal": "Journal of proteome research", "date": "2009", "authors": "Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236#ptm_processing" }, { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "Analysis of the 5' flanking region of the human beta-glucuronidase gene.", "journal": "Genomics", "date": "1991", "authors": "Shipley J M, Miller R D, Wu B M, Grubb J H, Christensen S G, Kyle J W, Sly W S", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "reference": [ { "type": "PubMed", "id": "1916806", "url": "https://glygen.org/publication/PubMed/1916806" } ] }, { "title": "Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).", "journal": "Hum. Mutat.", "date": "2009", "authors": "Tomatsu S, Montano AM, Dung VC, Grubb JH, Sly WS", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" }, { "database": "RefSeq", "id": "NP_000172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000172" } ], "reference": [ { "type": "PubMed", "id": "19224584", "url": "https://glygen.org/publication/PubMed/19224584" } ] }, { "title": "Human beta-galactosidase gene mutations in morquio B disease.", "journal": "American journal of human genetics", "date": "1991", "authors": "Oshima A, Yoshida K, Shimmoto M, Fukuhara Y, Sakuraba H, Suzuki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "1928092", "url": "https://glygen.org/publication/PubMed/1928092" } ] }, { "title": "Human alpha-L-iduronidase: cDNA isolation and expression.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1991", "authors": "Scott HS, Anson DS, Orsborn AM, Nelson PV, Clements PR, Morris CP, Hopwood JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "1946389", "url": "https://glygen.org/publication/PubMed/1946389" } ] }, { "title": "Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.", "journal": "American journal of human genetics", "date": "2010", "authors": "Pang J, Zhang S, Yang P, Hawkins-Lee B, Zhong J, Zhang Y, Ochoa B, Agundez JA, Voelckel MA, Fisher RB, Gu W, Xiong WC, Mei L, She JX, Wang CY", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "20560209", "url": "https://glygen.org/publication/PubMed/20560209" } ] }, { "title": "Mutations in HPSE2 cause urofacial syndrome.", "journal": "American journal of human genetics", "date": "2010", "authors": "Daly SB, Urquhart JE, Hilton E, McKenzie EA, Kammerer RA, Lewis M, Kerr B, Stuart H, Donnai D, Long DA, Burgu B, Aydogdu O, Derbent M, Garcia-Minaur S, Reardon W, Gener B, Shalev S, Smith R, Woolf AS, Black GC, Newman WG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "20560210", "url": "https://glygen.org/publication/PubMed/20560210" } ] }, { "title": "Heparanase 2 interacts with heparan sulfate with high affinity and inhibits heparanase activity.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Levy-Adam F, Feld S, Cohen-Kaplan V, Shteingauz A, Gross M, Arvatz G, Naroditsky I, Ilan N, Doweck I, Vlodavsky I", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "20576607", "url": "https://glygen.org/publication/PubMed/20576607" } ] }, { "title": "Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Durand S, Feldhammer M, Bonneil E, Thibault P, Pshezhetsky AV", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "20650889", "url": "https://glygen.org/publication/PubMed/20650889" } ] }, { "title": "Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1990", "authors": "Wilson PJ, Morris CP, Anson DS, Occhiodoro T, Bielicki J, Clements PR, Hopwood JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "2122463", "url": "https://glygen.org/publication/PubMed/2122463" } ] }, { "title": "Discovery of O-GlcNAc-modified proteins in published large-scale proteome data.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Hahne H, Gholami AM, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "P08236", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08236" }, { "database": "O-GlcNAc Atlas", "id": "P08236", "url": "https://oglcnac.org/atlas/detail/P08236" } ], "reference": [ { "type": "PubMed", "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "title": "Proteome profiling of human neutrophil granule subsets, secretory vesicles, and cell membrane: correlation with transcriptome profiling of neutrophil precursors.", "journal": "Journal of leukocyte biology", "date": "2013", "authors": "Rorvig S, Ostergaard O, Heegaard NH, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "23650620", "url": "https://glygen.org/publication/PubMed/23650620" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "An improved purification method for the lysosomal storage disease protein beta-glucuronidase produced in CHO cells.", "journal": "Protein expression and purification", "date": "2017", "authors": "Fratz-Berilla EJ, Ketcham SA, Parhiz H, Ashraf M, Madhavarao CN", "evidence": [ { "database": "RefSeq", "id": "NP_000172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000172" } ], "reference": [ { "type": "PubMed", "id": "28734840", "url": "https://glygen.org/publication/PubMed/28734840" } ] }, { "title": "Oligosaccharide structure and amino acid sequence of the major glycopeptides of mature human beta-hexosaminidase.", "journal": "Biochemistry", "date": "1988", "authors": "O'Dowd BF, Cumming DA, Gravel RA, Mahuran D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "2971395", "url": "https://glygen.org/publication/PubMed/2971395" } ] }, { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "P08236", "url": "" }, { "database": "GlyConnect", "id": "1037", "url": "https://glyconnect.expasy.org/browser/proteins/1037" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "Optimization of the method for alpha-l-fucosidase, beta-d-galactosidase and beta-d-glucuronidase determination in serum from hemolyzed blood.", "journal": "Advances in medical sciences", "date": "2018", "authors": "Chojnowska S, Ptaszynska-Sarosiek I, Kepka A, Szajda SD, Waszkiewicz N, Zwierz K", "evidence": [ { "database": "RefSeq", "id": "NP_000172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000172" } ], "reference": [ { "type": "PubMed", "id": "29885630", "url": "https://glygen.org/publication/PubMed/29885630" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P08236", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08236" }, { "database": "O-GlcNAc Atlas", "id": "P08236", "url": "https://oglcnac.org/atlas/detail/P08236" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "O-GlcNAc-induced nuclear translocation of hnRNP-K is associated with progression and metastasis of cholangiocarcinoma.", "journal": "Molecular oncology", "date": "2019", "authors": "Phoomak C, Park D, Silsirivanit A, Sawanyawisuth K, Vaeteewoottacharn K, Detarya M, Wongkham C, Lebrilla CB, Wongkham S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P08236", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08236" } ], "reference": [ { "type": "PubMed", "id": "30444036", "url": "https://glygen.org/publication/PubMed/30444036" } ] }, { "title": "Rat liver beta-glucuronidase. cDNA cloning, sequence comparisons and expression of a chimeric protein in COS cells.", "journal": "Biochem. J.", "date": "1988", "authors": "Powell PP, Kyle JW, Miller RD, Pantano J, Grubb JH, Sly WS", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "reference": [ { "type": "PubMed", "id": "3355537", "url": "https://glygen.org/publication/PubMed/3355537" } ] }, { "title": "Tumor cells express pauci- and oligomannosidic N-glycans in glycoproteins recognized by the mannose receptor (CD206).", "journal": "Cellular and molecular life sciences : CMLS", "date": "2021", "authors": "Stavenhagen K, Laan LC, Gao C, Mehta AY, Heimburg-Molinaro J, Glickman JN, van Die I, Cummings RD", "evidence": [ { "database": "UniCarbKB", "id": "P08236", "url": "" } ], "reference": [ { "type": "PubMed", "id": "34089345", "url": "https://glygen.org/publication/PubMed/34089345" } ] }, { "title": "Cloning, sequencing, and expression of cDNA for human beta-glucuronidase.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1987", "authors": "Oshima A, Kyle JW, Miller RD, Hoffmann JW, Powell PP, Grubb JH, Sly WS, Tropak M, Guise KS, Gravel RA", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" }, { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "3468507", "url": "https://glygen.org/publication/PubMed/3468507" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P08236", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08236" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Over-Expression of GUSB Leads to Primary Resistance of Anti-PD1 Therapy in Hepatocellular Carcinoma.", "journal": "Frontiers in immunology", "date": "2022", "authors": "Kong X, Zheng Z, Song G, Zhang Z, Liu H, Kang J, Sun G, Sun G, Huang T, Li X, Rong D, Wang K, Tang W, Xia Y", "evidence": [ { "database": "RefSeq", "id": "NP_000172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000172" } ], "reference": [ { "type": "PubMed", "id": "35812439", "url": "https://glygen.org/publication/PubMed/35812439" } ] }, { "title": "Macrophages and derived-TNF-\u03b1 promote lipopolysaccharide-induced upregulation of endogenous \u03b2-glucuronidase in the epithelial cells of the bile duct: A possible facilitator of hepatolithiasis formation.", "journal": "Clinics and research in hepatology and gastroenterology", "date": "2022-12-05", "authors": "Yang Ye, Wang Yang, Wang Cuifang, Wu Shuodong, Yao Dianbo", "evidence": [ { "database": "RefSeq", "id": "NP_000172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000172" } ], "reference": [ { "type": "PubMed", "id": "36473630", "url": "https://glygen.org/publication/PubMed/36473630" } ] }, { "title": "Isolation and expression in Escherichia coli of a cDNA clone encoding human beta-glucuronidase.", "journal": "Gene", "date": "1985", "authors": "Guise K S, Korneluk R G, Waye J, Lamhonwah A M, Quan F, Palmer R, Ganschow R E, Sly W S, Gravel R A", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "reference": [ { "type": "PubMed", "id": "3924735", "url": "https://glygen.org/publication/PubMed/3924735" } ] }, { "title": "Human small-intestinal beta-galactosidases. Separation and characterization of one lactase and one hetero beta-galactosidase.", "journal": "The Biochemical journal", "date": "1969", "authors": "Asp NG, Dahlqvist A, Koldovsky O", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "5822067", "url": "https://glygen.org/publication/PubMed/5822067" } ] }, { "title": "Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome.", "journal": "Nature genetics", "date": "1995", "authors": "Scott HS, Blanch L, Guo XH, Freeman C, Orsborn A, Baker E, Sutherland GR, Morris CP, Hopwood JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "7493035", "url": "https://glygen.org/publication/PubMed/7493035" } ] }, { "title": "A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.", "journal": "American journal of human genetics", "date": "1995", "authors": "Vervoort R, Islam MR, Sly W, Chabas A, Wevers R, de Jong J, Liebaers I, Lissens W", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "reference": [ { "type": "PubMed", "id": "7573038", "url": "https://glygen.org/publication/PubMed/7573038" } ] }, { "title": "Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site.", "journal": "Human molecular genetics", "date": "1995", "authors": "Yamada S, Tomatsu S, Sly WS, Islam R, Wenger DA, Fukuda S, Sukegawa K, Orii T", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "reference": [ { "type": "PubMed", "id": "7633414", "url": "https://glygen.org/publication/PubMed/7633414" } ] }, { "title": "Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.", "journal": "American journal of human genetics", "date": "1993", "authors": "Shipley JM, Klinkenberg M, Wu BM, Bachinsky DR, Grubb JH, Sly WS", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" }, { "database": "Reactome", "id": "R-HSA-2206292", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2206292" } ], "reference": [ { "type": "PubMed", "id": "7680524", "url": "https://glygen.org/publication/PubMed/7680524" } ] }, { "title": "Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Wu BM, Tomatsu S, Fukuda S, Sukegawa K, Orii T, Sly WS", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "reference": [ { "type": "PubMed", "id": "8089138", "url": "https://glygen.org/publication/PubMed/8089138" } ] }, { "title": "Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes.", "journal": "Human mutation", "date": "1993", "authors": "Vervoort R, Lissens W, Liebaers I", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "reference": [ { "type": "PubMed", "id": "8111412", "url": "https://glygen.org/publication/PubMed/8111412" } ] }, { "title": "Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII.", "journal": "Human mutation", "date": "1993", "authors": "Wu BM, Sly WS", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" }, { "database": "Reactome", "id": "R-HSA-2206292", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2206292" } ], "reference": [ { "type": "PubMed", "id": "8111413", "url": "https://glygen.org/publication/PubMed/8111413" } ] }, { "title": "The role of glycosylation and phosphorylation in the expression of active human beta-glucuronidase.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Shipley JM, Grubb JH, Sly WS", "evidence": [ { "database": "iPTMnet", "id": "P08236-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08236-1" } ], "reference": [ { "type": "PubMed", "id": "8505339", "url": "https://glygen.org/publication/PubMed/8505339" } ] }, { "title": "Structure of human beta-glucuronidase reveals candidate lysosomal targeting and active-site motifs.", "journal": "Nat. Struct. Biol.", "date": "1996", "authors": "Jain S, Drendel W B, Chen Z W, Mathews F S, Sly W S, Grubb J H", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "reference": [ { "type": "PubMed", "id": "8599764", "url": "https://glygen.org/publication/PubMed/8599764" } ] }, { "title": "Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.", "journal": "American journal of human genetics", "date": "1996", "authors": "Vervoort R, Islam MR, Sly WS, Zabot MT, Kleijer WJ, Chabas A, Fensom A, Young EP, Liebaers I, Lissens W", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" }, { "database": "Reactome", "id": "R-HSA-2206292", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2206292" } ], "reference": [ { "type": "PubMed", "id": "8644704", "url": "https://glygen.org/publication/PubMed/8644704" } ] }, { "title": "Targeting of proteins to granule subsets is determined by timing and not by sorting: The specific granule protein NGAL is localized to azurophil granules when expressed in HL-60 cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Le Cabec V, Cowland JB, Calafat J, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "8692836", "url": "https://glygen.org/publication/PubMed/8692836" } ] }, { "title": "beta-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients.", "journal": "Human genetics", "date": "1996", "authors": "Islam MR, Vervoort R, Lissens W, Hoo JJ, Valentino LA, Sly WS", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "reference": [ { "type": "PubMed", "id": "8707294", "url": "https://glygen.org/publication/PubMed/8707294" } ] }, { "title": "Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B).", "journal": "Human molecular genetics", "date": "1996", "authors": "Weber B, Blanch L, Clements PR, Scott HS, Hopwood JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "8776591", "url": "https://glygen.org/publication/PubMed/8776591" } ] }, { "title": "The characterization of a human RHAMM cDNA: conservation of the hyaluronan-binding domains.", "journal": "Gene", "date": "1996", "authors": "Wang C, Entwistle J, Hou G, Li Q, Turley EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "8890751", "url": "https://glygen.org/publication/PubMed/8890751" } ] }, { "title": "A calcineurin homologous protein inhibits GTPase-stimulated Na-H exchange.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Lin X, Barber DL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "8901634", "url": "https://glygen.org/publication/PubMed/8901634" } ] }, { "title": "Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region.", "journal": "Human genetics", "date": "1997", "authors": "Vervoort R, Buist NR, Kleijer WJ, Wevers R, Fryns JP, Liebaers I, Lissens W", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" }, { "database": "Reactome", "id": "R-HSA-2206292", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2206292" } ], "reference": [ { "type": "PubMed", "id": "9099834", "url": "https://glygen.org/publication/PubMed/9099834" } ] }, { "title": "Novel mutations in Sanfilippo A syndrome: implications for enzyme function.", "journal": "Human molecular genetics", "date": "1997", "authors": "Weber B, Guo XH, Wraith JE, Cooper A, Kleijer WJ, Bunge S, Hopwood JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "9285796", "url": "https://glygen.org/publication/PubMed/9285796" } ] }, { "title": "Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote.", "journal": "Human genetics", "date": "1998", "authors": "Vervoort R, Gitzelmann R, Bosshard N, Maire I, Liebaers I, Lissens W", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "reference": [ { "type": "PubMed", "id": "9490302", "url": "https://glygen.org/publication/PubMed/9490302" } ] }, { "title": "The human hyaluronan receptor RHAMM is expressed as an intracellular protein in breast cancer cells.", "journal": "Journal of cell science", "date": "1998", "authors": "Assmann V, Marshall JF, Fieber C, Hofmann M, Hart IR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "9601098", "url": "https://glygen.org/publication/PubMed/9601098" } ] }, { "title": "HYAL2, a human gene expressed in many cells, encodes a lysosomal hyaluronidase with a novel type of specificity.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Lepperdinger G, Strobl B, Kreil G", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "9712871", "url": "https://glygen.org/publication/PubMed/9712871" } ] } ], "pathway": [ { "id": "hsa:2990", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2990", "resource": "KEGG Pathway" }, { "id": "R-HSA-2024096", "name": "HS-GAG degradation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096", "resource": "Reactome", "description": "HS-GAG degradation" }, { "id": "R-HSA-2160916", "name": "Hyaluronan uptake and degradation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916", "resource": "Reactome", "description": "Hyaluronan uptake and degradation" }, { "id": "R-HSA-2206292", "name": "MPS VII - Sly syndrome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2206292", "resource": "Reactome", "description": "MPS VII - Sly syndrome" }, { "id": "R-HSA-6798695", "name": "Neutrophil degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "resource": "Reactome", "description": "Neutrophil degranulation" } ], "orthologs": [ { "uniprot_canonical_ac": "P06760-1", "protein_name": "Beta-glucuronidase", "gene_name": "Gusb", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSPRRSVCWFVLGQLLCSCAVALQGGMLFPKETPSRELKVLDGLWSFRADYSNNRLQGFEKQWYRQPLRESGPTLDMPVPSSFNDITQEAELRNFIGWVWYEREAVLPQRWTQDTDRRVVLRINSAHYYAVVWVNGIHVVEHEGGHLPFEADITKLVQSGPLTTFRVTIAINNTLTPYTLPPGTIVYKTDPSMYPKGYFVQDISFDFFNYAGLHRSVVLYTTPTTYIDDITVTTDVDRDVGLVNYWISVQGSDHFQLEVRLLDEDGKIVARGTGNEGQLKVPRAHLWWPYLMHEHPAYLYSLEVTMTTPESVSDFYTLPVGIRTVAVTKSKFLINGKPFYFQGVNKHEDSDIRGRGFDWPLLIKDFNLLRWLGANSFRTSHYPYSEEVLQLCDRYGIVVIDECPGVGIVLPQSFGNVSLRHHLEVMDELVRRDKNHPAVVMWSVANEPVSSLKPAGYYFKTLIAHTKALDPTRPVTFVSNTRYDADMGAPYVDVICVNSYLSWYHDYGHLEVIQLQLTSQFENWYKMYQKPIIQSEYGADAVSGLHEDPPRMFSEEYQTALLENYHLILDEKRKEYVIGELIWNFADFMTNQSPLRVTGNKKGIFTRQRNPKMAAFILRERYWRIANETRGYGSVPRTQCMGSRPFTF", "length": 648 }, "evidence": [ { "id": "45923309", "url": "http://www.informatics.jax.org/homology/45923309", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P12265-1", "protein_name": "Beta-glucuronidase", "gene_name": "Gusb", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSLKWSACWVALGQLLCSCALALKGGMLFPKESPSRELKALDGLWHFRADLSNNRLQGFEQQWYRQPLRESGPVLDMPVPSSFNDITQEAALRDFIGWVWYEREAILPRRWTQDTDMRVVLRINSAHYYAVVWVNGIHVVEHEGGHLPFEADISKLVQSGPLTTCRITIAINNTLTPHTLPPGTIVYKTDTSMYPKGYFVQDTSFDFFNYAGLHRSVVLYTTPTTYIDDITVITNVEQDIGLVTYWISVQGSEHFQLEVQLLDEGGKVVAHGTGNQGQLQVPSANLWWPYLMHEHPAYMYSLEVKVTTTESVTDYYTLPIGIRTVAVTKSKFLINGKPFYFQGVNKHEDSDIRGKGFDWPLLVKDFNLLRWLGANSFRTSHYPYSEEVLQLCDRYGIVVIDECPGVGIVLPQSFGNESLRHHLEVMEELVRRDKNHPAVVMWSVANEPSSALKPAAYYFKTLITHTKALDLTRPVTFVSNAKYDADLGAPYVDVICVNSYFSWYHDYGHLEVIQPQLNSQFENWYKTHQKPIIQSEYGADAIPGIHEDPPRMFSEEYQKAVLENYHSVLDQKRKEYVVGELIWNFADFMTNQSPLRVIGNKKGIFTRQRQPKTSAFILRERYWRIANETGGHGSGPRTQCFGSRPFTF", "length": 648 }, "evidence": [ { "id": "45923309", "url": "http://www.informatics.jax.org/homology/45923309", "database": "MGI" }, { "id": "P08236", "url": "https://omabrowser.org/oma/group/P08236/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9V9T9-1", "protein_name": "Beta-glucuronidase", "gene_name": "betaGlu", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MKSHWMPVTCLLLGSLQVLLAYTENDFLVNANRKELTDSPLFEYDNVRKPTPTKGLLYPRDSETREVRSLDGMWQLVRSDPYDPLQGIREKWFMDALRKTGREIISMPVPASYNDITTDNLRDHVGTVWYERTFFVPRSWKTMQRTWLRFSSVHYSAVVWINGRNATSHSIGHLPFESEISGLLSFGGDNRITVMCDNRLSNRTIPQGSVYKVATDDGTVPIQSYTFDFFNYAGIHRSVHLYTTPLLHISDLEVTTQLTKEGLGRIDYRVWLDASKEGLQIQPIQLRVQLRDKDGHVAAQQINKAVYHGTLLVPNATPWWPYLMHSDPGYLYNLQFELFVASNEKELESLQDTYRLPVGIRSLSWDNDSLLLNGKPLYLRGFGRHEDSDIRGKGLDNALLARDFNLLKWTGANAYRTSHYPYSEESMQFADQHGIMIIDECPAVNIDIFEPQLLENHMSSLEQLIHRDRNHPSVVAWSVANEPRSNKQGALKYFEFLVNYVREIAHGRPLTAAINANSSSCHLAQFLDIVGFNRYNSWYQNSGRTDMILNLLTIEAQSWRDRFGKPVIQFEYGGDTMEGMHSLPAFIWSEEYQVELFSRHFKAFDELRGRGWFIGEFVWNFADFRTAQTITRVGGNKKGVFTRNRQPKEVAHILRRRYFALAKELDMFGLPEDLTVYISKHIHNEL", "length": 686 }, "evidence": [ { "id": "P08236", "url": "https://omabrowser.org/oma/group/P08236/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "pmid": "" }, { "name": "beta-glucuronidase activity", "id": "GO:0004566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004566", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "pmid": "" }, { "name": "ficolin-1-rich granule lumen", "id": "GO:1904813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904813", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "pmid": "" }, { "name": "azurophil granule lumen", "id": "GO:0035578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035578", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "pmid": "" }, { "name": "lysosomal lumen", "id": "GO:0043202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043202", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "glucuronoside catabolic process", "id": "GO:0019391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019391", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "pmid": "" }, { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "pmid": "" }, { "name": "glycosaminoglycan catabolic process", "id": "GO:0006027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006027", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "pmid": "" }, { "name": "chondroitin sulfate catabolic process", "id": "GO:0030207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030207", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "pmid": "" }, { "name": "heparan sulfate proteoglycan catabolic process", "id": "GO:0030200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030200", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "pmid": "" }, { "name": "hyaluronan catabolic process", "id": "GO:0030214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030214", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "beta-glucuronidase N-glycosylated 1 (human)", "definition": "A beta-glucuronidase (human) that has been N-glycosylated at the residue equivalent to Asn-173 of the amino acid sequence represented by UniProtKB:P08236-1, in which the glycan composition is represented by GlyTouCan:G06231AO. Example: UniProtKB:P08236-1, Asn-173, MOD:00160~GNO:G06231AO. [PRO:DNx, PMID:29741879]", "evidence": [ { "id": "PR:000054440", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054440" } ] } ], "site_annotation": [ { "start_pos": 173, "end_pos": 175, "annotation": "n_glycosylation_sequon" }, { "start_pos": 272, "end_pos": 274, "annotation": "n_glycosylation_sequon" }, { "start_pos": 420, "end_pos": 422, "annotation": "n_glycosylation_sequon" }, { "start_pos": 631, "end_pos": 633, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "N-linked glycosylated with 3 to 4 oligosaccharide chains.", "evidence": [ { "database": "UniProtKB", "id": "P08236", "url": "https://www.uniprot.org/uniprot/P08236" }, { "database": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" }, { "database": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" }, { "database": "PubMed", "id": "12754519", "url": "https://glygen.org/publication/PubMed/12754519" } ] } ], "interactions": [], "reactions": [ { "id": "17633", "name": "", "equation": "a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P06760-1", "Q9Z2Y9-1", "P08236-1", "Q9UEF7-1", "P12265-1", "O35082-1", "A1ZBG9-1", "Q9V9T9-1" ], "evidence": [ { "id": "17633", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/17633" } ] }, { "id": "R-HSA-1678854", "name": "GUSB tetramer hydrolyses CS/HS precursor", "equation": "", "summary": "The tetrameric lysosomal enzyme beta-glucuronidase hydrolyses glucuronate from heparan or the linker chain (Oshima et al. 1987). L-aspartic acid is an inhibitor of enzyme activity (Kreamer et al. 2001).", "cellular_location": "lysosomal lumen", "input_participant_list": [], "output_participant_list": [ "R-ALL-1678868" ], "enzyme_list": [ "P08236-1" ], "evidence": [ { "id": "R-HSA-1678854", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1678854" } ] }, { "id": "R-HSA-2162226", "name": "GUSB tetramer hydrolyses GlcA-1,3-GlcNAc", "equation": "", "summary": "The tetrameric lysosomal enzyme beta-glucuronidase hydrolyses glucuronate from the HA disaccharide (Oshima et al. 1987) resulting in the single sugars glucuronic acid and N-acetylglucosamine. These single sugars can exit the lysosome by an unknown mechanism. L-aspartic acid is an inhibitor of enzyme activity (Kreamer et al. 2001).", "cellular_location": "lysosomal lumen", "input_participant_list": [ "R-ALL-2162224" ], "output_participant_list": [], "enzyme_list": [ "P08236-1" ], "evidence": [ { "id": "R-HSA-2162226", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2162226" } ] }, { "id": "R-HSA-2162227", "name": "GUSB tetramer hydrolyses (HA)2", "equation": "", "summary": "The tetrameric lysosomal enzyme beta-glucuronidase hydrolyses glucuronate from the HA tetrasaccharide (Oshima et al. 1987) resulting in the single sugars glucuronic acid and N-acetylglucosamine. These single sugars can exit the lysosome by an unknown mechanism. L-aspartic acid is an inhibitor of enzyme activity (Kreamer et al. 2001).", "cellular_location": "lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P08236-1" ], "evidence": [ { "id": "R-HSA-2162227", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2162227" } ] }, { "id": "R-HSA-2318373", "name": "Defective GUSB does not hydrolyse (HA)2", "equation": "", "summary": "Tetrameric lysosomal enzyme beta-glucuronidase (GUSB tetramer) hydrolyses glucuronate from the HA tetrasaccharide (HA(2)) resulting in the single sugars glucuronic acid and N-acetylglucosamine. Defects in beta-glucuronidase (GUSB; MIM:611499) cause mucopolysaccharidosis type VII (MPS VII, Sly syndrome, beta-glucuronidase deficiency; MIM:253220), an autosomal recessive lysosomal storage disease. Mutations causing severe forms of the disease are R356* (Shipley et al. 1993), A354V and R611W (Wu & Sly 1993), S52F (Vervoot et al. 1997) and R216W (Vervoort et al. 1996).", "cellular_location": "lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P08236-1" ], "evidence": [ { "id": "R-HSA-2318373", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2318373" } ] }, { "id": "R-HSA-6798751", "name": "Exocytosis of azurophil granule lumen proteins", "equation": "", "summary": "Azurophil or primary granules were originally defined by their high content of myeloperoxidase (MPO) and their affinity for the basic dye azure A (Spicer & Hardin 1969). Azurophil granules are generally described as spherical. Like lysosomes, they contain CD63 in their membrane (Cham et al. 1994) but are regarded as specialized secretory granules rather than lysosomes (Cieutat et al. 1998). Azurophil granules undergo limited exocytosis in response to stimulation (Sengelov et al. 1993, Faurschou et al. 2002), their primary role is believed to be killing and degradation of engulfed microbes in the phagolysosome (Joiner et al. 1989).; ; MPO reacts with H2O2 formed by NADPH oxidase, increasing its toxicity by formation of hypochlorous acid and other chlorination products, tyrosine radicals and reactive nitrogen intermediates which attack the surface of microbes (Klebanoff et al. 2013).;", "cellular_location": "extracellular region, azurophil granule lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q05655-1", "P07686-1", "P12724-1", "P04066-1", "Q92820-1", "Q6XQN6-1", "Q99536-1", "Q9BRF8-1", "Q9UHL4-1", "P08246-1", "P34059-1", "P15586-1", "P24158-1", "Q9Y2J8-1", "P10619-1", "O00584-1", "P53396-1", "P55072-1", "P06280-1", "P28482-1", "Q9NZK5-1", "P20933-1", "P05089-1", "P15289-1", "P15848-1", "P16278-1", "Q9H7Z7-1", "P53634-1", "P08311-1", "Q9BTY2-1", "P00387-1", "P30041-1", "P05164-1", "Q8NBS9-1", "P11216-1", "P10153-1", "P61626-1", "P08236-1", "P42685-1", "P07478-1", "O00754-1", "P20839-1" ], "evidence": [ { "id": "R-HSA-6798751", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798751" } ] }, { "id": "R-HSA-6800434", "name": "Exocytosis of ficolin-rich granule lumen proteins", "equation": "", "summary": "Ficoli-1 rich granules are a relatively new fourth neutrophil granule population that is enriched in the microbial lectin ficolin-1. Ficolin-1 is present in tertiary granules, but ficolin-1 rich granules can be differentiated by having low levels of gelatinases and an elevated exocytosis propensity (Rorvig et al. 2009, 2013). The importance of these granules may be to provide rapid release of pattern recognition molecules to activate the lectin complement pathway (Rorvig et al. 2009).", "cellular_location": "extracellular region, ficolin-1-rich granule lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9UBR2-1", "P18669-1", "P32320-1", "P09917-1", "O00487-1", "P13639-1", "P12268-1", "P62937-1", "P15586-1", "Q96G03-1", "Q9P0J7-1", "P68402-1", "P36871-1", "Q99436-1", "P07339-1", "P13798-1", "P53396-1", "P55072-1", "P68104-1", "P11142-1", "Q9Y315-1", "P04075-1", "P09972-1", "P07900-1", "P09211-1", "Q16539-1", "P07858-1", "P14618-1", "P28482-1", "Q01432-1", "P12956-1", "Q7Z6Z7-1", "Q9UNP9-1", "Q13510-1", "P14174-1", "P15848-1", "P16278-1", "Q8WVQ1-1", "P04040-1", "O00571-1", "P14780-1", "P06744-1", "P52790-1", "P00491-1", "P06737-1", "Q16769-1", "P08236-1", "P02794-1", "P07384-1", "Q14004-1", "P00746-1", "P98066-1", "P25774-1", "Q13162-1", "P17858-1", "P46976-1", "P09960-1", "P22392-1", "P13716-1", "O75874-1", "P20839-1" ], "evidence": [ { "id": "R-HSA-6800434", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6800434" } ] }, { "id": "R-HSA-9036068", "name": "Defective GUSB does not hydrolyse GlcA-1,3-GlcNAc", "equation": "", "summary": "Tetrameric lysosomal enzyme beta-glucuronidase (GUSB tetramer) hydrolyses glucuronate from the HA disaccharide GlcA-\u03b21,3-GlcNAc resulting in the single sugars glucuronic acid and N-acetylglucosamine. Defects in beta-glucuronidase (GUSB; MIM:611499) cause mucopolysaccharidosis type VII (MPS VII, Sly syndrome, beta-glucuronidase deficiency; MIM:253220), an autosomal recessive lysosomal storage disease. Mutations causing severe forms of the disease are R356* (Shipley et al. 1993), A354V and R611W (Wu & Sly 1993), S52F (Vervoot et al. 1997) and R216W (Vervoort et al. 1996).", "cellular_location": "lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P08236-1" ], "evidence": [ { "id": "R-HSA-9036068", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9036068" } ] }, { "id": "R-HSA-9036070", "name": "Defective GUSB does not hydrolyse CS/HS precursor", "equation": "", "summary": "Tetrameric lysosomal enzyme beta-glucuronidase (GUSB tetramer) hydrolyses glucuronate from heparan or the linker chain. Defects in beta-glucuronidase (GUSB; MIM:611499) cause mucopolysaccharidosis type VII (MPS VII, Sly syndrome, beta-glucuronidase deficiency; MIM:253220), an autosomal recessive lysosomal storage disease. Mutations causing severe forms of the disease are R356* (Shipley et al. 1993), A354V and R611W (Wu & Sly 1993), S52F (Vervoot et al. 1997) and R216W (Vervoort et al. 1996).", "cellular_location": "lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P08236-1" ], "evidence": [ { "id": "R-HSA-9036070", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9036070" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-1678868", "participant_name": "GlcA [lysosomal lumen]", "crossref": [ { "id": "4178", "database": "ChEBI", "url": "" }, { "id": "8145865", "database": "PubChem Substance", "url": "" }, { "id": "C00191", "database": "COMPOUND", "url": "" }, { "id": "4178", "database": "ChEBI", "url": "" }, { "id": "C00191", "database": "COMPOUND", "url": "" }, { "id": "8145865", "database": "PubChem Substance", "url": "" }, { "id": "8145865", "database": "PubChem Substance", "url": "" }, { "id": "C00191", "database": "COMPOUND", "url": "" }, { "id": "4178", "database": "ChEBI", "url": "" }, { "id": "4178", "database": "ChEBI", "url": "" }, { "id": "8145865", "database": "PubChem Substance", "url": "" }, { "id": "C00191", "database": "COMPOUND", "url": "" }, { "id": "4178", "database": "ChEBI", "url": "" }, { "id": "8145865", "database": "PubChem Substance", "url": "" }, { "id": "C00191", "database": "COMPOUND", "url": "" } ] }, { "participant_id": "R-ALL-2162224", "participant_name": "GlcA-1,3-GlcNAc [lysosomal lumen]", "crossref": [ { "id": "64024", "database": "ChEBI", "url": "" }, { "id": "G35674CY", "database": "GlyTouCan", "url": "" }, { "id": "000031371284", "database": "ZINC", "url": "" }, { "id": "000031371287", "database": "ZINC", "url": "" }, { "id": "64024", "database": "ChEBI", "url": "" }, { "id": "G35674CY", "database": "GlyTouCan", "url": "" }, { "id": "000031371284", "database": "ZINC", "url": "" }, { "id": "000031371287", "database": "ZINC", "url": "" }, { "id": "64024", "database": "ChEBI", "url": "" }, { "id": "G35674CY", "database": "GlyTouCan", "url": "" }, { "id": "000031371284", "database": "ZINC", "url": "" }, { "id": "000031371287", "database": "ZINC", "url": "" }, { "id": "64024", "database": "ChEBI", "url": "" }, { "id": "G35674CY", "database": "GlyTouCan", "url": "" }, { "id": "000031371284", "database": "ZINC", "url": "" }, { "id": "000031371287", "database": "ZINC", "url": "" }, { "id": "64024", "database": "ChEBI", "url": "" }, { "id": "G35674CY", "database": "GlyTouCan", "url": "" }, { "id": "000031371284", "database": "ZINC", "url": "" }, { "id": "000031371287", "database": "ZINC", "url": "" }, { "id": "64024", "database": "ChEBI", "url": "" }, { "id": "G35674CY", "database": "GlyTouCan", "url": "" }, { "id": "000031371284", "database": "ZINC", "url": "" }, { "id": "000031371287", "database": "ZINC", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "A1ZBG9", "gene_name": "Dmel\\CG15117", "activity": [ { "ec_number": "3.2.1.31", "activity": "a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate.", "evidence": [ { "id": "A1ZBG9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A1ZBG9" } ] }, { "ec_number": "3.2.1.31", "activity": "", "evidence": [ { "id": "A1ZBG9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A1ZBG9" } ] } ] }, { "uniprot_ac": "O00487", "gene_name": "PSMD14", "activity": [ { "ec_number": "3.4.19.-", "activity": "", "evidence": [ { "id": "O00487", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00487" } ] } ] }, { "uniprot_ac": "O00571", "gene_name": "DDX3X", "activity": [ { "ec_number": "3.6.4.13", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "O00571", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00571" } ] }, { "ec_number": "3.6.4.13", "activity": "", "evidence": [ { "id": "O00571", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00571" } ] } ] }, { "uniprot_ac": "O00584", "gene_name": "RNASET2", "activity": [ { "ec_number": "4.6.1.19", "activity": "a ribonucleotidyl-ribonucleotide-RNA + H2O = a 3'-end 3'-phospho-ribonucleotide-RNA + a 5'-end dephospho-ribonucleoside-RNA + H(+).", "evidence": [ { "id": "O00584", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00584" } ] }, { "ec_number": "4.6.1.19", "activity": "", "evidence": [ { "id": "O00584", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00584" } ] } ] }, { "uniprot_ac": "O00754", "gene_name": "MAN2B1", "activity": [ { "ec_number": "3.2.1.24", "activity": "Hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides.", "evidence": [ { "id": "O00754", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00754" } ] }, { "ec_number": "3.2.1.24", "activity": "", "evidence": [ { "id": "O00754", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00754" } ] } ] }, { "uniprot_ac": "O35082", "gene_name": "Kl", "activity": [ { "ec_number": "3.2.1.31", "activity": "a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate.", "evidence": [ { "id": "O35082", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35082" } ] }, { "ec_number": "3.2.1.31", "activity": "", "evidence": [ { "id": "O35082", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35082" } ] } ] }, { "uniprot_ac": "O75874", "gene_name": "IDH1", "activity": [ { "ec_number": "1.1.1.42", "activity": "D-threo-isocitrate + NADP(+) = 2-oxoglutarate + CO2 + NADPH.", "evidence": [ { "id": "O75874", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75874" } ] }, { "ec_number": "1.1.1.42", "activity": "", "evidence": [ { "id": "O75874", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75874" } ] } ] }, { "uniprot_ac": "P00387", "gene_name": "CYB5R3", "activity": [ { "ec_number": "1.6.2.2", "activity": "2 Fe(III)-[cytochrome b5] + NADH = 2 Fe(II)-[cytochrome b5] + H(+) + NAD(+).", "evidence": [ { "id": "P00387", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00387" } ] }, { "ec_number": "1.6.2.2", "activity": "", "evidence": [ { "id": "P00387", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00387" } ] } ] }, { "uniprot_ac": "P00491", "gene_name": "PNP", "activity": [ { "ec_number": "2.4.2.1", "activity": "a purine 2'-deoxy-D-ribonucleoside + phosphate = 2-deoxy-alpha-D-ribose 1-phosphate + a purine nucleobase.", "evidence": [ { "id": "P00491", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00491" } ] }, { "ec_number": "2.4.2.1", "activity": "", "evidence": [ { "id": "P00491", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00491" } ] } ] }, { "uniprot_ac": "P00746", "gene_name": "CFD", "activity": [ { "ec_number": "3.4.21.46", "activity": "Selective cleavage of Arg-|-Lys bond in complement factor B when in complex with complement subcomponent C3b or with cobra venom factor.", "evidence": [ { "id": "P00746", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00746" } ] }, { "ec_number": "3.4.21.46", "activity": "", "evidence": [ { "id": "P00746", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00746" } ] } ] }, { "uniprot_ac": "P02794", "gene_name": "FTH1", "activity": [ { "ec_number": "1.16.3.1", "activity": "4 Fe(2+) + 4 H(+) + O2 = 4 Fe(3+) + 2 H2O.", "evidence": [ { "id": "P02794", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02794" } ] }, { "ec_number": "1.16.3.1", "activity": "", "evidence": [ { "id": "P02794", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02794" } ] } ] }, { "uniprot_ac": "P04040", "gene_name": "CAT", "activity": [ { "ec_number": "1.11.1.6", "activity": "2 H2O2 = 2 H2O + O2.", "evidence": [ { "id": "P04040", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04040" } ] }, { "ec_number": "1.11.1.6", "activity": "", "evidence": [ { "id": "P04040", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04040" } ] } ] }, { "uniprot_ac": "P04066", "gene_name": "FUCA1", "activity": [ { "ec_number": "3.2.1.51", "activity": "an alpha-L-fucoside + H2O = an alcohol + L-fucose.", "evidence": [ { "id": "P04066", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04066" } ] }, { "ec_number": "3.2.1.51", "activity": "", "evidence": [ { "id": "P04066", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04066" } ] } ] }, { "uniprot_ac": "P04075", "gene_name": "ALDOA", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P04075", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04075" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P04075", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04075" } ] } ] }, { "uniprot_ac": "P05089", "gene_name": "ARG1", "activity": [ { "ec_number": "3.5.3.1", "activity": "H2O + L-arginine = L-ornithine + urea.", "evidence": [ { "id": "P05089", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05089" } ] }, { "ec_number": "3.5.3.1", "activity": "", "evidence": [ { "id": "P05089", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05089" } ] } ] }, { "uniprot_ac": "P05164", "gene_name": "MPO", "activity": [ { "ec_number": "1.11.2.2", "activity": "chloride + H(+) + H2O2 = H2O + hypochlorous acid.", "evidence": [ { "id": "P05164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05164" } ] }, { "ec_number": "1.11.2.2", "activity": "", "evidence": [ { "id": "P05164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05164" } ] } ] }, { "uniprot_ac": "P06280", "gene_name": "GLA", "activity": [ { "ec_number": "3.2.1.-", "activity": "", "evidence": [ { "id": "P06280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06280" } ] }, { "ec_number": "3.2.1.22", "activity": "a globoside Gb3Cer (d18:1(4E)) + H2O = a beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + D-galactose.", "evidence": [ { "id": "P06280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06280" } ] }, { "ec_number": "3.2.1.22", "activity": "", "evidence": [ { "id": "P06280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06280" } ] } ] }, { "uniprot_ac": "P06737", "gene_name": "PYGL", "activity": [ { "ec_number": "2.4.1.1", "activity": "[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate.", "evidence": [ { "id": "P06737", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06737" } ] }, { "ec_number": "2.4.1.1", "activity": "", "evidence": [ { "id": "P06737", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06737" } ] } ] }, { "uniprot_ac": "P06744", "gene_name": "GPI", "activity": [ { "ec_number": "5.3.1.9", "activity": "alpha-D-glucose 6-phosphate = beta-D-fructose 6-phosphate.", "evidence": [ { "id": "P06744", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06744" } ] }, { "ec_number": "5.3.1.9", "activity": "", "evidence": [ { "id": "P06744", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06744" } ] } ] }, { "uniprot_ac": "P06760", "gene_name": "Gusb", "activity": [ { "ec_number": "3.2.1.31", "activity": "a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate.", "evidence": [ { "id": "P06760", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06760" } ] }, { "ec_number": "3.2.1.31", "activity": "", "evidence": [ { "id": "P06760", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06760" } ] } ] }, { "uniprot_ac": "P07339", "gene_name": "CTSD", "activity": [ { "ec_number": "3.4.23.5", "activity": "Specificity similar to, but narrower than, that of pepsin A. Does not cleave the 4-Gln-|-His-5 bond in B chain of insulin.", "evidence": [ { "id": "P07339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07339" } ] }, { "ec_number": "3.4.23.5", "activity": "", "evidence": [ { "id": "P07339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07339" } ] } ] }, { "uniprot_ac": "P07384", "gene_name": "CAPN1", "activity": [ { "ec_number": "3.4.22.52", "activity": "Broad endopeptidase specificity.", "evidence": [ { "id": "P07384", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07384" } ] }, { "ec_number": "3.4.22.52", "activity": "", "evidence": [ { "id": "P07384", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07384" } ] } ] }, { "uniprot_ac": "P07478", "gene_name": "PRSS2", "activity": [ { "ec_number": "3.4.21.4", "activity": "Preferential cleavage: Arg-|-Xaa, Lys-|-Xaa.", "evidence": [ { "id": "P07478", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07478" } ] }, { "ec_number": "3.4.21.4", "activity": "", "evidence": [ { "id": "P07478", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07478" } ] } ] }, { "uniprot_ac": "P07686", "gene_name": "HEXB", "activity": [ { "ec_number": "3.2.1.52", "activity": "Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.", "evidence": [ { "id": "P07686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07686" } ] }, { "ec_number": "3.2.1.52", "activity": "", "evidence": [ { "id": "P07686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07686" } ] } ] }, { "uniprot_ac": "P07858", "gene_name": "CTSB", "activity": [ { "ec_number": "3.4.22.1", "activity": "Hydrolysis of proteins with broad specificity for peptide bonds. Preferentially cleaves -Arg-Arg-|-Xaa bonds in small molecule substrates (thus differing from cathepsin L). In addition to being an endopeptidase, shows peptidyl-dipeptidase activity, liberating C-terminal dipeptides.", "evidence": [ { "id": "P07858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07858" } ] }, { "ec_number": "3.4.22.1", "activity": "", "evidence": [ { "id": "P07858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07858" } ] } ] }, { "uniprot_ac": "P07900", "gene_name": "HSP90AA1", "activity": [ { "ec_number": "3.6.4.10", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P07900", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07900" } ] }, { "ec_number": "3.6.4.10", "activity": "", "evidence": [ { "id": "P07900", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07900" } ] } ] }, { "uniprot_ac": "P08236", "gene_name": "GUSB", "activity": [ { "ec_number": "3.2.1.31", "activity": "a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate.", "evidence": [ { "id": "P08236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08236" } ] }, { "ec_number": "3.2.1.31", "activity": "", "evidence": [ { "id": "P08236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08236" } ] } ] }, { "uniprot_ac": "P08246", "gene_name": "ELANE", "activity": [ { "ec_number": "3.4.21.37", "activity": "Hydrolysis of proteins, including elastin. Preferential cleavage: Val-|-Xaa > Ala-|-Xaa.", "evidence": [ { "id": "P08246", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08246" } ] }, { "ec_number": "3.4.21.37", "activity": "", "evidence": [ { "id": "P08246", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08246" } ] } ] }, { "uniprot_ac": "P08311", "gene_name": "CTSG", "activity": [ { "ec_number": "3.4.21.20", "activity": "Specificity similar to chymotrypsin C.", "evidence": [ { "id": "P08311", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08311" } ] }, { "ec_number": "3.4.21.20", "activity": "", "evidence": [ { "id": "P08311", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08311" } ] } ] }, { "uniprot_ac": "P09211", "gene_name": "GSTP1", "activity": [ { "ec_number": "2.5.1.18", "activity": "glutathione + RX = a halide anion + an S-substituted glutathione + H(+).", "evidence": [ { "id": "P09211", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09211" } ] }, { "ec_number": "2.5.1.18", "activity": "", "evidence": [ { "id": "P09211", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09211" } ] } ] }, { "uniprot_ac": "P09917", "gene_name": "ALOX5", "activity": [ { "ec_number": "1.13.11.-", "activity": "", "evidence": [ { "id": "P09917", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09917" } ] }, { "ec_number": "1.13.11.34", "activity": "(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = H2O + leukotriene A4.", "evidence": [ { "id": "P09917", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09917" } ] } ] }, { "uniprot_ac": "P09960", "gene_name": "LTA4H", "activity": [ { "ec_number": "3.3.2.6", "activity": "H2O + leukotriene A4 = leukotriene B4.", "evidence": [ { "id": "P09960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09960" } ] }, { "ec_number": "3.4.11.4", "activity": "Release of the N-terminal residue from a tripeptide.", "evidence": [ { "id": "P09960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09960" } ] }, { "ec_number": "3.3.2.6", "activity": "", "evidence": [ { "id": "P09960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09960" } ] } ] }, { "uniprot_ac": "P09972", "gene_name": "ALDOC", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P09972", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09972" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P09972", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09972" } ] } ] }, { "uniprot_ac": "P10153", "gene_name": "RNASE2", "activity": [ { "ec_number": "4.6.1.18", "activity": "an [RNA] containing cytidine + H2O = an [RNA]-3'-cytidine-3'-phosphate + a 5'-hydroxy-ribonucleotide-3'-[RNA].", "evidence": [ { "id": "P10153", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10153" } ] }, { "ec_number": "4.6.1.18", "activity": "", "evidence": [ { "id": "P10153", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10153" } ] } ] }, { "uniprot_ac": "P10619", "gene_name": "CTSA", "activity": [ { "ec_number": "3.4.16.-", "activity": "", "evidence": [ { "id": "P10619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10619" } ] }, { "ec_number": "3.4.16.5", "activity": "Release of a C-terminal amino acid with broad specificity.", "evidence": [ { "id": "P10619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10619" } ] }, { "ec_number": "3.4.16.5", "activity": "", "evidence": [ { "id": "P10619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10619" } ] } ] }, { "uniprot_ac": "P11142", "gene_name": "HSPA8", "activity": [ { "ec_number": "3.6.4.10", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P11142", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11142" } ] }, { "ec_number": "3.6.4.10", "activity": "", "evidence": [ { "id": "P11142", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11142" } ] } ] }, { "uniprot_ac": "P11216", "gene_name": "PYGB", "activity": [ { "ec_number": "2.4.1.1", "activity": "[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate.", "evidence": [ { "id": "P11216", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11216" } ] }, { "ec_number": "2.4.1.1", "activity": "", "evidence": [ { "id": "P11216", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11216" } ] } ] }, { "uniprot_ac": "P12265", "gene_name": "Gusb", "activity": [ { "ec_number": "3.2.1.31", "activity": "a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate.", "evidence": [ { "id": "P12265", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12265" } ] }, { "ec_number": "3.2.1.31", "activity": "", "evidence": [ { "id": "P12265", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12265" } ] } ] }, { "uniprot_ac": "P12268", "gene_name": "IMPDH2", "activity": [ { "ec_number": "1.1.1.205", "activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.", "evidence": [ { "id": "P12268", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12268" } ] }, { "ec_number": "1.1.1.205", "activity": "", "evidence": [ { "id": "P12268", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12268" } ] } ] }, { "uniprot_ac": "P12724", "gene_name": "RNASE3", "activity": [ { "ec_number": "3.1.27.-", "activity": "", "evidence": [ { "id": "P12724", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12724" } ] } ] }, { "uniprot_ac": "P12956", "gene_name": "XRCC6", "activity": [ { "ec_number": "4.2.99.-", "activity": "", "evidence": [ { "id": "P12956", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12956" } ] }, { "ec_number": "3.6.4.-", "activity": "", "evidence": [ { "id": "P12956", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12956" } ] } ] }, { "uniprot_ac": "P13639", "gene_name": "EEF2", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P13639", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13639" } ] } ] }, { "uniprot_ac": "P13716", "gene_name": "ALAD", "activity": [ { "ec_number": "4.2.1.24", "activity": "2 5-aminolevulinate = H(+) + 2 H2O + porphobilinogen.", "evidence": [ { "id": "P13716", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13716" } ] }, { "ec_number": "4.2.1.24", "activity": "", "evidence": [ { "id": "P13716", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13716" } ] } ] }, { "uniprot_ac": "P13798", "gene_name": "APEH", "activity": [ { "ec_number": "3.4.19.1", "activity": "Internal cleavage of oxidized and glycated proteins.", "evidence": [ { "id": "P13798", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13798" } ] }, { "ec_number": "3.4.19.1", "activity": "", "evidence": [ { "id": "P13798", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13798" } ] } ] }, { "uniprot_ac": "P14174", "gene_name": "MIF", "activity": [ { "ec_number": "5.3.2.1", "activity": "3-phenylpyruvate = enol-phenylpyruvate.", "evidence": [ { "id": "P14174", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14174" } ] }, { "ec_number": "5.3.3.12", "activity": "L-dopachrome = 5,6-dihydroxyindole-2-carboxylate.", "evidence": [ { "id": "P14174", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14174" } ] }, { "ec_number": "5.3.2.1", "activity": "", "evidence": [ { "id": "P14174", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14174" } ] } ] }, { "uniprot_ac": "P14618", "gene_name": "PKM", "activity": [ { "ec_number": "2.7.1.40", "activity": "CTP + pyruvate = CDP + H(+) + phosphoenolpyruvate.", "evidence": [ { "id": "P14618", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14618" } ] }, { "ec_number": "2.7.1.40", "activity": "", "evidence": [ { "id": "P14618", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14618" } ] }, { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P14618", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14618" } ] }, { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P14618", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14618" } ] } ] }, { "uniprot_ac": "P14780", "gene_name": "MMP9", "activity": [ { "ec_number": "3.4.24.35", "activity": "Cleavage of gelatin types I and V and collagen types IV and V.", "evidence": [ { "id": "P14780", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14780" } ] }, { "ec_number": "3.4.24.35", "activity": "", "evidence": [ { "id": "P14780", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14780" } ] } ] }, { "uniprot_ac": "P15289", "gene_name": "ARSA", "activity": [ { "ec_number": "3.1.6.8", "activity": "H2O + N-acyl-1-beta-D-(3-O-sulfo)-galactosyl-sphing-4-enine = a beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine + H(+) + sulfate.", "evidence": [ { "id": "P15289", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15289" } ] }, { "ec_number": "3.1.6.8", "activity": "", "evidence": [ { "id": "P15289", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15289" } ] } ] }, { "uniprot_ac": "P15586", "gene_name": "GNS", "activity": [ { "ec_number": "3.1.6.14", "activity": "Hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate.", "evidence": [ { "id": "P15586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15586" } ] }, { "ec_number": "3.1.6.14", "activity": "", "evidence": [ { "id": "P15586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15586" } ] } ] }, { "uniprot_ac": "P15848", "gene_name": "ARSB", "activity": [ { "ec_number": "3.1.6.12", "activity": "Hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate.", "evidence": [ { "id": "P15848", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15848" } ] }, { "ec_number": "3.1.6.12", "activity": "", "evidence": [ { "id": "P15848", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15848" } ] } ] }, { "uniprot_ac": "P16278", "gene_name": "GLB1", "activity": [ { "ec_number": "3.2.1.23", "activity": "Hydrolysis of terminal non-reducing beta-D-galactose residues in beta-D-galactosides.", "evidence": [ { "id": "P16278", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16278" } ] }, { "ec_number": "3.2.1.23", "activity": "", "evidence": [ { "id": "P16278", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16278" } ] } ] }, { "uniprot_ac": "P17858", "gene_name": "PFKL", "activity": [ { "ec_number": "2.7.1.11", "activity": "ATP + beta-D-fructose 6-phosphate = ADP + beta-D-fructose 1,6-bisphosphate + H(+).", "evidence": [ { "id": "P17858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17858" } ] }, { "ec_number": "2.7.1.11", "activity": "", "evidence": [ { "id": "P17858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17858" } ] } ] }, { "uniprot_ac": "P18669", "gene_name": "PGAM1", "activity": [ { "ec_number": "5.4.2.11", "activity": "(2R)-2-phosphoglycerate = (2R)-3-phosphoglycerate.", "evidence": [ { "id": "P18669", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18669" } ] }, { "ec_number": "5.4.2.4", "activity": "(2R)-3-phospho-glyceroyl phosphate = (2R)-2,3-bisphosphoglycerate + H(+).", "evidence": [ { "id": "P18669", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18669" } ] }, { "ec_number": "5.4.2.4", "activity": "", "evidence": [ { "id": "P18669", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18669" } ] }, { "ec_number": "5.4.2.11", "activity": "", "evidence": [ { "id": "P18669", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18669" } ] } ] }, { "uniprot_ac": "P20839", "gene_name": "IMPDH1", "activity": [ { "ec_number": "1.1.1.205", "activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.", "evidence": [ { "id": "P20839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20839" } ] }, { "ec_number": "1.1.1.205", "activity": "", "evidence": [ { "id": "P20839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20839" } ] } ] }, { "uniprot_ac": "P20933", "gene_name": "AGA", "activity": [ { "ec_number": "3.5.1.26", "activity": "H2O + N(4)-(beta-N-acetyl-D-glucosaminyl)-L-asparagine = H(+) + L-aspartate + N-acetyl-beta-D-glucosaminylamine.", "evidence": [ { "id": "P20933", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20933" } ] }, { "ec_number": "3.5.1.26", "activity": "", "evidence": [ { "id": "P20933", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20933" } ] } ] }, { "uniprot_ac": "P22392", "gene_name": "NME2", "activity": [ { "ec_number": "2.7.4.6", "activity": "a ribonucleoside 5'-diphosphate + ATP = a ribonucleoside 5'-triphosphate + ADP.", "evidence": [ { "id": "P22392", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22392" } ] }, { "ec_number": "2.7.13.3", "activity": "ATP + protein L-histidine = ADP + protein N-phospho-L-histidine.", "evidence": [ { "id": "P22392", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22392" } ] }, { "ec_number": "2.7.4.6", "activity": "", "evidence": [ { "id": "P22392", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22392" } ] }, { "ec_number": "2.7.13.3", "activity": "", "evidence": [ { "id": "P22392", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22392" } ] } ] }, { "uniprot_ac": "P24158", "gene_name": "PRTN3", "activity": [ { "ec_number": "3.4.21.76", "activity": "Hydrolysis of proteins, including elastin, by preferential cleavage: -Ala-|-Xaa- > -Val-|-Xaa-.", "evidence": [ { "id": "P24158", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24158" } ] }, { "ec_number": "3.4.21.76", "activity": "", "evidence": [ { "id": "P24158", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24158" } ] } ] }, { "uniprot_ac": "P25774", "gene_name": "CTSS", "activity": [ { "ec_number": "3.4.22.27", "activity": "Similar to cathepsin L, but with much less activity on Z-Phe-Arg-|-NHMec, and more activity on the Z-Val-Val-Arg-|-Xaa compound.", "evidence": [ { "id": "P25774", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25774" } ] }, { "ec_number": "3.4.22.27", "activity": "", "evidence": [ { "id": "P25774", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25774" } ] } ] }, { "uniprot_ac": "P28482", "gene_name": "MAPK1", "activity": [ { "ec_number": "2.7.11.24", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P28482", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28482" } ] }, { "ec_number": "2.7.11.24", "activity": "", "evidence": [ { "id": "P28482", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28482" } ] } ] }, { "uniprot_ac": "P30041", "gene_name": "PRDX6", "activity": [ { "ec_number": "1.11.1.27", "activity": "a hydroperoxide + 2 glutathione = an alcohol + glutathione disulfide + H2O.", "evidence": [ { "id": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] }, { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] }, { "ec_number": "2.3.1.23", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphocholine + CoA.", "evidence": [ { "id": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] }, { "ec_number": "1.11.1.27", "activity": "", "evidence": [ { "id": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] } ] }, { "uniprot_ac": "P32320", "gene_name": "CDA", "activity": [ { "ec_number": "3.5.4.5", "activity": "2'-deoxycytidine + H(+) + H2O = 2'-deoxyuridine + NH4(+).", "evidence": [ { "id": "P32320", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32320" } ] }, { "ec_number": "3.5.4.5", "activity": "", "evidence": [ { "id": "P32320", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32320" } ] } ] }, { "uniprot_ac": "P34059", "gene_name": "GALNS", "activity": [ { "ec_number": "3.1.6.4", "activity": "Hydrolysis of the 6-sulfate groups of the N-acetyl-D-galactosamine 6-sulfate units of chondroitin sulfate and of the D-galactose 6-sulfate units of keratan sulfate.", "evidence": [ { "id": "P34059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P34059" } ] }, { "ec_number": "3.1.6.4", "activity": "", "evidence": [ { "id": "P34059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P34059" } ] } ] }, { "uniprot_ac": "P36871", "gene_name": "PGM1", "activity": [ { "ec_number": "5.4.2.2", "activity": "alpha-D-glucose 1-phosphate = alpha-D-glucose 6-phosphate.", "evidence": [ { "id": "P36871", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36871" } ] }, { "ec_number": "5.4.2.2", "activity": "", "evidence": [ { "id": "P36871", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36871" } ] } ] }, { "uniprot_ac": "P42685", "gene_name": "FRK", "activity": [ { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P42685", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42685" } ] }, { "ec_number": "2.7.10.2", "activity": "", "evidence": [ { "id": "P42685", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42685" } ] } ] }, { "uniprot_ac": "P46976", "gene_name": "GYG1", "activity": [ { "ec_number": "2.4.1.186", "activity": "[1,4-alpha-D-glucosyl](n)-L-tyrosyl-[glycogenin] + UDP-alpha-D-glucose = [1,4-alpha-D-glucosyl](n+1)-L-tyrosyl-[glycogenin] + H(+) + UDP.", "evidence": [ { "id": "P46976", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46976" } ] }, { "ec_number": "2.4.1.186", "activity": "", "evidence": [ { "id": "P46976", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46976" } ] } ] }, { "uniprot_ac": "P52790", "gene_name": "HK3", "activity": [ { "ec_number": "2.7.1.1", "activity": "ATP + D-fructose = ADP + D-fructose 6-phosphate + H(+).", "evidence": [ { "id": "P52790", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52790" } ] }, { "ec_number": "2.7.1.1", "activity": "", "evidence": [ { "id": "P52790", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52790" } ] }, { "ec_number": "2.7.1.-", "activity": "", "evidence": [ { "id": "P52790", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52790" } ] } ] }, { "uniprot_ac": "P53396", "gene_name": "ACLY", "activity": [ { "ec_number": "2.3.3.8", "activity": "acetyl-CoA + ADP + oxaloacetate + phosphate = ATP + citrate + CoA.", "evidence": [ { "id": "P53396", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53396" } ] }, { "ec_number": "2.3.3.8", "activity": "", "evidence": [ { "id": "P53396", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53396" } ] } ] }, { "uniprot_ac": "P53634", "gene_name": "CTSC", "activity": [ { "ec_number": "3.4.14.1", "activity": "Release of an N-terminal dipeptide, Xaa-Yaa-|-Zaa-, except when Xaa is Arg or Lys, or Yaa or Zaa is Pro.", "evidence": [ { "id": "P53634", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53634" } ] }, { "ec_number": "3.4.14.1", "activity": "", "evidence": [ { "id": "P53634", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53634" } ] } ] }, { "uniprot_ac": "P55072", "gene_name": "VCP", "activity": [ { "ec_number": "3.6.4.6", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P55072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55072" } ] }, { "ec_number": "3.6.4.6", "activity": "", "evidence": [ { "id": "P55072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55072" } ] } ] }, { "uniprot_ac": "P61626", "gene_name": "LYZ", "activity": [ { "ec_number": "3.2.1.17", "activity": "Hydrolysis of (1->4)-beta-linkages between N-acetylmuramic acid and N-acetyl-D-glucosamine residues in a peptidoglycan and between N-acetyl-D-glucosamine residues in chitodextrins.", "evidence": [ { "id": "P61626", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61626" } ] }, { "ec_number": "3.2.1.17", "activity": "", "evidence": [ { "id": "P61626", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61626" } ] } ] }, { "uniprot_ac": "P62937", "gene_name": "PPIA", "activity": [ { "ec_number": "5.2.1.8", "activity": "[protein]-peptidylproline (omega=180) = [protein]-peptidylproline (omega=0).", "evidence": [ { "id": "P62937", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62937" } ] }, { "ec_number": "5.2.1.8", "activity": "", "evidence": [ { "id": "P62937", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62937" } ] } ] }, { "uniprot_ac": "P68104", "gene_name": "EEF1A1", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P68104", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P68104" } ] } ] }, { "uniprot_ac": "P68402", "gene_name": "PAFAH1B2", "activity": [ { "ec_number": "3.1.1.47", "activity": "a 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + acetate + H(+).", "evidence": [ { "id": "P68402", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P68402" } ] }, { "ec_number": "3.1.1.47", "activity": "", "evidence": [ { "id": "P68402", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P68402" } ] } ] }, { "uniprot_ac": "P98066", "gene_name": "TNFAIP6", "activity": [ { "ec_number": "3.1.1.-", "activity": "", "evidence": [ { "id": "P98066", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P98066" } ] } ] }, { "uniprot_ac": "Q01432", "gene_name": "AMPD3", "activity": [ { "ec_number": "3.5.4.6", "activity": "AMP + H(+) + H2O = IMP + NH4(+).", "evidence": [ { "id": "Q01432", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q01432" } ] }, { "ec_number": "3.5.4.6", "activity": "", "evidence": [ { "id": "Q01432", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q01432" } ] } ] }, { "uniprot_ac": "Q05655", "gene_name": "PRKCD", "activity": [ { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "Q05655", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05655" } ] }, { "ec_number": "2.7.11.13", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q05655", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05655" } ] }, { "ec_number": "2.7.11.13", "activity": "", "evidence": [ { "id": "Q05655", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05655" } ] } ] }, { "uniprot_ac": "Q13162", "gene_name": "PRDX4", "activity": [ { "ec_number": "1.11.1.24", "activity": "[thioredoxin]-dithiol + a hydroperoxide = [thioredoxin]-disulfide + an alcohol + H2O.", "evidence": [ { "id": "Q13162", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13162" } ] }, { "ec_number": "1.11.1.24", "activity": "", "evidence": [ { "id": "Q13162", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13162" } ] } ] }, { "uniprot_ac": "Q13510", "gene_name": "ASAH1", "activity": [ { "ec_number": "3.5.1.23", "activity": "an N-acylsphing-4-enine + H2O = a fatty acid + sphing-4-enine.", "evidence": [ { "id": "Q13510", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13510" } ] }, { "ec_number": "3.5.1.23", "activity": "", "evidence": [ { "id": "Q13510", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13510" } ] }, { "ec_number": "3.5.1.-", "activity": "", "evidence": [ { "id": "Q13510", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13510" } ] } ] }, { "uniprot_ac": "Q14004", "gene_name": "CDK13", "activity": [ { "ec_number": "2.7.11.22", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q14004", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14004" } ] }, { "ec_number": "2.7.11.23", "activity": "[DNA-directed RNA polymerase] + ATP = ADP + H(+) + phospho-[DNA-directed RNA polymerase].", "evidence": [ { "id": "Q14004", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14004" } ] }, { "ec_number": "2.7.11.22", "activity": "", "evidence": [ { "id": "Q14004", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14004" } ] }, { "ec_number": "2.7.11.23", "activity": "", "evidence": [ { "id": "Q14004", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14004" } ] } ] }, { "uniprot_ac": "Q16539", "gene_name": "MAPK14", "activity": [ { "ec_number": "2.7.11.24", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q16539", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16539" } ] }, { "ec_number": "2.7.11.24", "activity": "", "evidence": [ { "id": "Q16539", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16539" } ] } ] }, { "uniprot_ac": "Q16769", "gene_name": "QPCT", "activity": [ { "ec_number": "2.3.2.5", "activity": "N-terminal L-glutaminyl-[peptide] = N-terminal 5-oxo-L-prolyl-[peptide] + NH4(+).", "evidence": [ { "id": "Q16769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16769" } ] }, { "ec_number": "2.3.2.5", "activity": "", "evidence": [ { "id": "Q16769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16769" } ] } ] }, { "uniprot_ac": "Q6XQN6", "gene_name": "NAPRT", "activity": [ { "ec_number": "6.3.4.21", "activity": "5-phospho-alpha-D-ribose 1-diphosphate + ATP + H2O + nicotinate = ADP + diphosphate + nicotinate beta-D-ribonucleotide + phosphate.", "evidence": [ { "id": "Q6XQN6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6XQN6" } ] }, { "ec_number": "6.3.4.21", "activity": "", "evidence": [ { "id": "Q6XQN6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6XQN6" } ] } ] }, { "uniprot_ac": "Q7Z6Z7", "gene_name": "HUWE1", "activity": [ { "ec_number": "2.3.2.26", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q7Z6Z7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7Z6Z7" } ] }, { "ec_number": "2.3.2.26", "activity": "", "evidence": [ { "id": "Q7Z6Z7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7Z6Z7" } ] } ] }, { "uniprot_ac": "Q8NBS9", "gene_name": "TXNDC5", "activity": [ { "ec_number": "1.8.4.-", "activity": "", "evidence": [ { "id": "Q8NBS9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBS9" } ] }, { "ec_number": "5.3.4.1", "activity": "Catalyzes the rearrangement of -S-S- bonds in proteins.", "evidence": [ { "id": "Q8NBS9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBS9" } ] }, { "ec_number": "5.3.4.1", "activity": "", "evidence": [ { "id": "Q8NBS9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBS9" } ] } ] }, { "uniprot_ac": "Q8WVQ1", "gene_name": "CANT1", "activity": [ { "ec_number": "3.6.1.6", "activity": "ADP + H2O = AMP + H(+) + phosphate.", "evidence": [ { "id": "Q8WVQ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WVQ1" } ] }, { "ec_number": "3.6.1.6", "activity": "", "evidence": [ { "id": "Q8WVQ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WVQ1" } ] } ] }, { "uniprot_ac": "Q92820", "gene_name": "GGH", "activity": [ { "ec_number": "3.4.19.9", "activity": "(6S)-5,6,7,8-tetrahydrofolyl-(gamma-L-Glu)(n) + (n-1) H2O = (6S)-5,6,7,8-tetrahydrofolate + (n-1) L-glutamate.", "evidence": [ { "id": "Q92820", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92820" } ] }, { "ec_number": "3.4.19.9", "activity": "", "evidence": [ { "id": "Q92820", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92820" } ] } ] }, { "uniprot_ac": "Q96G03", "gene_name": "PGM2", "activity": [ { "ec_number": "5.4.2.2", "activity": "alpha-D-glucose 1-phosphate = alpha-D-glucose 6-phosphate.", "evidence": [ { "id": "Q96G03", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96G03" } ] }, { "ec_number": "5.4.2.7", "activity": "2-deoxy-alpha-D-ribose 1-phosphate = 2-deoxy-D-ribose 5-phosphate.", "evidence": [ { "id": "Q96G03", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96G03" } ] }, { "ec_number": "5.4.2.7", "activity": "", "evidence": [ { "id": "Q96G03", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96G03" } ] } ] }, { "uniprot_ac": "Q99436", "gene_name": "PSMB7", "activity": [ { "ec_number": "3.4.25.1", "activity": "Cleavage of peptide bonds with very broad specificity.", "evidence": [ { "id": "Q99436", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99436" } ] }, { "ec_number": "3.4.25.1", "activity": "", "evidence": [ { "id": "Q99436", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99436" } ] } ] }, { "uniprot_ac": "Q99536", "gene_name": "VAT1", "activity": [ { "ec_number": "1.-.-.-", "activity": "", "evidence": [ { "id": "Q99536", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99536" } ] } ] }, { "uniprot_ac": "Q9BRF8", "gene_name": "CPPED1", "activity": [ { "ec_number": "3.1.3.16", "activity": "H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate.", "evidence": [ { "id": "Q9BRF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BRF8" } ] }, { "ec_number": "3.1.3.16", "activity": "", "evidence": [ { "id": "Q9BRF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BRF8" } ] } ] }, { "uniprot_ac": "Q9BTY2", "gene_name": "FUCA2", "activity": [ { "ec_number": "3.2.1.51", "activity": "an alpha-L-fucoside + H2O = an alcohol + L-fucose.", "evidence": [ { "id": "Q9BTY2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BTY2" } ] }, { "ec_number": "3.2.1.51", "activity": "", "evidence": [ { "id": "Q9BTY2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BTY2" } ] } ] }, { "uniprot_ac": "Q9H7Z7", "gene_name": "PTGES2", "activity": [ { "ec_number": "5.3.99.3", "activity": "prostaglandin H2 = prostaglandin E2.", "evidence": [ { "id": "Q9H7Z7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H7Z7" } ] }, { "ec_number": "5.3.99.3", "activity": "", "evidence": [ { "id": "Q9H7Z7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H7Z7" } ] } ] }, { "uniprot_ac": "Q9NZK5", "gene_name": "ADA2", "activity": [ { "ec_number": "3.5.4.4", "activity": "2'-deoxyadenosine + H(+) + H2O = 2'-deoxyinosine + NH4(+).", "evidence": [ { "id": "Q9NZK5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NZK5" } ] }, { "ec_number": "3.5.4.4", "activity": "", "evidence": [ { "id": "Q9NZK5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NZK5" } ] } ] }, { "uniprot_ac": "Q9P0J7", "gene_name": "KCMF1", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q9P0J7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P0J7" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9P0J7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P0J7" } ] } ] }, { "uniprot_ac": "Q9UBR2", "gene_name": "CTSZ", "activity": [ { "ec_number": "3.4.18.1", "activity": "Release of C-terminal amino acid residues with broad specificity, but lacks action on C-terminal proline. Shows weak endopeptidase activity.", "evidence": [ { "id": "Q9UBR2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UBR2" } ] }, { "ec_number": "3.4.18.1", "activity": "", "evidence": [ { "id": "Q9UBR2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UBR2" } ] } ] }, { "uniprot_ac": "Q9UEF7", "gene_name": "KL", "activity": [ { "ec_number": "3.2.1.31", "activity": "a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate.", "evidence": [ { "id": "Q9UEF7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UEF7" } ] }, { "ec_number": "3.2.1.31", "activity": "", "evidence": [ { "id": "Q9UEF7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UEF7" } ] } ] }, { "uniprot_ac": "Q9UHL4", "gene_name": "DPP7", "activity": [ { "ec_number": "3.4.14.2", "activity": "Release of an N-terminal dipeptide, Xaa-Yaa-|-, preferentially when Yaa is Ala or Pro. Substrates are oligopeptides, preferentially tripeptides.", "evidence": [ { "id": "Q9UHL4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UHL4" } ] }, { "ec_number": "3.4.14.2", "activity": "", "evidence": [ { "id": "Q9UHL4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UHL4" } ] } ] }, { "uniprot_ac": "Q9UNP9", "gene_name": "PPIE", "activity": [ { "ec_number": "5.2.1.8", "activity": "[protein]-peptidylproline (omega=180) = [protein]-peptidylproline (omega=0).", "evidence": [ { "id": "Q9UNP9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UNP9" } ] }, { "ec_number": "5.2.1.8", "activity": "", "evidence": [ { "id": "Q9UNP9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UNP9" } ] } ] }, { "uniprot_ac": "Q9V9T9", "gene_name": "betaGlu", "activity": [ { "ec_number": "3.2.1.31", "activity": "a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate.", "evidence": [ { "id": "Q9V9T9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V9T9" } ] }, { "ec_number": "3.2.1.31", "activity": "", "evidence": [ { "id": "Q9V9T9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V9T9" } ] } ] }, { "uniprot_ac": "Q9Y2J8", "gene_name": "PADI2", "activity": [ { "ec_number": "3.5.3.15", "activity": "H2O + L-arginyl-[protein] = L-citrullyl-[protein] + NH4(+).", "evidence": [ { "id": "Q9Y2J8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2J8" } ] }, { "ec_number": "3.5.3.15", "activity": "", "evidence": [ { "id": "Q9Y2J8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2J8" } ] } ] }, { "uniprot_ac": "Q9Y315", "gene_name": "DERA", "activity": [ { "ec_number": "4.1.2.4", "activity": "2-deoxy-D-ribose 5-phosphate = acetaldehyde + D-glyceraldehyde 3-phosphate.", "evidence": [ { "id": "Q9Y315", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y315" } ] }, { "ec_number": "4.1.2.4", "activity": "", "evidence": [ { "id": "Q9Y315", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y315" } ] } ] }, { "uniprot_ac": "Q9Z2Y9", "gene_name": "Kl", "activity": [ { "ec_number": "3.2.1.31", "activity": "a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate.", "evidence": [ { "id": "Q9Z2Y9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Z2Y9" } ] }, { "ec_number": "3.2.1.31", "activity": "", "evidence": [ { "id": "Q9Z2Y9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Z2Y9" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 173, 174, 272, 420, 631 ], "o_linked_sites": [ 274, 276 ], "snv_sites": [ 152, 173, 175, 234, 381, 420, 468, 486, 631, 633 ], "glycation_sites": [], "phosphorylation_sites": [ 274 ], "sequon_annotation_sites": [ { "start_pos": 173, "end_pos": 175 }, { "start_pos": 272, "end_pos": 274 }, { "start_pos": 420, "end_pos": 422 }, { "start_pos": 631, "end_pos": 633 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 30 }, { "field": "total_sites", "count": 7 }, { "field": "n_linked_glycans", "count": 17 }, { "field": "n_linked_glycan_sites", "count": 8 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 25 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 17 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 12 }, { "field": "total_sites", "count": 10 } ], "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": 3 }, { "field": "total_sites", "count": 3 } ], "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": 9 }, { "field": "total_sites", "count": 7 } ], "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": 78 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }