{ "uniprot_canonical_ac": "O60701-1", "uniprot_ac": "O60701", "uniprot_id": "UGDH_HUMAN", "mass": { "chemical_mass": 55024.0, "monoisotopic_mass": 55024.0 }, "refseq": { "ac": "NP_001171629", "name": "UDP-glucose 6-dehydrogenase isoform 2", "summary": "The protein encoded by this gene converts UDP-glucose to UDP-glucuronate and thereby participates in the biosynthesis of glycosaminoglycans such as hyaluronan, chondroitin sulfate, and heparan sulfate. These glycosylated compounds are common components of the extracellular matrix and likely play roles in signal transduction, cell migration, and cancer growth and metastasis. The expression of this gene is up-regulated by transforming growth factor beta and down-regulated by hypoxia. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171629" }, "gene_names": [ { "name": "UGDH", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60701", "id": "O60701" }, { "name": "DEE84; EIEE84; GDH; UDP-GlcDH; UDPGDH; UGD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171629", "id": "NP_001171629" }, { "name": "UGDH", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171629", "id": "NP_001171629" } ], "protein_names": [ { "name": "UDP-glucose 6-dehydrogenase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60701" }, { "name": "1.1.1.22", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60701" }, { "name": "UDP-Glc dehydrogenase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60701" }, { "name": "UDP-GlcDH", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60701" }, { "name": "UDP-glucose 6-dehydrogenase isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171629", "id": "NP_001171629" }, { "name": "UDP-glucose dehydrogenase; uridine diphospho-glucose dehydrogenase; UDP-Glc dehydrogenase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171629", "id": "NP_001171629" }, { "name": "UDPGDH", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60701" } ], "function": [ { "annotation": "Catalyzes the formation of UDP-alpha-D-glucuronate, a constituent of complex glycosaminoglycans (PubMed:21961565, PubMed:21502315, PubMed:23106432, PubMed:22123821, PubMed:25478983, PubMed:27966912, PubMed:30420606, PubMed:30457329). Required for the biosynthesis of chondroitin sulfate and heparan sulfate. Required for embryonic development via its role in the biosynthesis of glycosaminoglycans (By similarity). Required for proper brain and neuronal development (PubMed:32001716).", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701#function" }, { "database": "PubMed", "id": "21961565", "url": "https://glygen.org/publication/PubMed/21961565" }, { "database": "PubMed", "id": "22123821", "url": "https://glygen.org/publication/PubMed/22123821" }, { "database": "PubMed", "id": "27966912", "url": "https://glygen.org/publication/PubMed/27966912" }, { "database": "PubMed", "id": "23106432", "url": "https://glygen.org/publication/PubMed/23106432" }, { "database": "PubMed", "id": "21502315", "url": "https://glygen.org/publication/PubMed/21502315" }, { "database": "PubMed", "id": "32001716", "url": "https://glygen.org/publication/PubMed/32001716" }, { "database": "PubMed", "id": "25478983", "url": "https://glygen.org/publication/PubMed/25478983" }, { "database": "PubMed", "id": "30420606", "url": "https://glygen.org/publication/PubMed/30420606" }, { "database": "PubMed", "id": "30457329", "url": "https://glygen.org/publication/PubMed/30457329" }, { "database": "UniProtKB", "id": "O70475", "url": "https://www.uniprot.org/uniprot/O70475#function" } ] }, { "annotation": "Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations.", "evidence": [ { "database": "RefSeq", "id": "NP_001171629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171629" }, { "database": "PubMed", "id": "37593999", "url": "https://glygen.org/publication/PubMed/37593999" } ] }, { "annotation": "Targeting UDP-glucose dehydrogenase inhibits ovarian cancer growth and metastasis.", "evidence": [ { "database": "RefSeq", "id": "NP_001171629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171629" }, { "database": "PubMed", "id": "32893977", "url": "https://glygen.org/publication/PubMed/32893977" } ] }, { "annotation": "The protein encoded by this gene converts UDP-glucose to UDP-glucuronate and thereby participates in the biosynthesis of glycosaminoglycans such as hyaluronan, chondroitin sulfate, and heparan sulfate. These glycosylated compounds are common components of the extracellular matrix and likely play roles in signal transduction, cell migration, and cancer growth and metastasis. The expression of this gene is up-regulated by transforming growth factor beta and down-regulated by hypoxia. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001171629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171629" } ] }, { "annotation": "UDP-glucose 6-dehydrogenase knockout impairs migration and decreases in vivo metastatic ability of breast cancer cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001171629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171629" }, { "database": "PubMed", "id": "32768525", "url": "https://glygen.org/publication/PubMed/32768525" } ] }, { "annotation": "UDP-glucose 6-dehydrogenase lessens sorafenib sensitivity via modulating unfolded protein response.", "evidence": [ { "database": "RefSeq", "id": "NP_001171629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171629" }, { "database": "PubMed", "id": "35617808", "url": "https://glygen.org/publication/PubMed/35617808" } ] }, { "annotation": "UGDH promotes tumor-initiating cells and a fibroinflammatory tumor microenvironment in ovarian cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001171629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171629" }, { "database": "PubMed", "id": "37858159", "url": "https://glygen.org/publication/PubMed/37858159" } ] } ], "disease": [ { "disease_id": "DOID:0112219", "recommended_name": { "id": "DOID:0112219", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112219", "name": "developmental and epileptic encephalopathy 84", "description": "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the UGDH gene on chromosome 4p14." }, "synonyms": [ { "id": "DOID:0112219", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112219", "name": "Jamuar syndrome", "description": "" }, { "id": "DOID:0112219", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112219", "name": "DEE84", "description": "" }, { "id": "DOID:0112219", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112219", "name": "early infantile epileptic encephalopathy 84", "description": "" }, { "id": "MONDO:0032918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032918", "name": "developmental and epileptic encephalopathy, 84", "description": "" }, { "id": "MONDO:0032918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032918", "name": "DEE84", "description": "" }, { "id": "MONDO:0032918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032918", "name": "EIEE84", "description": "" }, { "id": "MONDO:0032918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032918", "name": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84", "description": "" }, { "id": "MONDO:0032918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032918", "name": "developmental and epileptic encephalopathy 84", "description": "" }, { "id": "MONDO:0032918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032918", "name": "epileptic encephalopathy, early infantile, 84", "description": "" }, { "id": "MONDO:0032918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032918", "name": "Jamuar Syndrome", "description": "" }, { "id": "MIM:618792", "resource": "MIM", "url": "https://www.omim.org/entry/618792", "name": "Developmental and epileptic encephalopathy 84", "description": "Developmental and epileptic encephalopathy 84" } ], "evidence": [ { "id": "618792", "database": "MIM", "url": "https://www.omim.org/entry/618792" } ] } ], "snv": [ { "evidence": [ { "id": "O60701", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60701" }, { "id": "rs770721281", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770721281" }, { "id": "rs770721281", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770721281" }, { "id": "rs770721281", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770721281" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 211, "end_pos": 211, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (TNT->NNT).", "chr_id": "4", "chr_pos": "39510384", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T211", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "O60701", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60701" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 63, "end_pos": 63, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->F).", "chr_id": "4", "chr_pos": "39514159", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S63", "disease": [ { "disease_id": "DOID:1115", "recommended_name": { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm." }, "synonyms": [ { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "connective and soft tissue neoplasm", "description": "" }, { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "tumor of soft tissue and skeleton", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1389276038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1389276038" }, { "id": "rs1389276038", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1389276038" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 92, "end_pos": 92, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTP->NTS).", "chr_id": "4", "chr_pos": "39510852", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P92", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 104, "end_pos": 104, "sequence_org": "A", "sequence_mut": "G", "comment": "Impairs protein folding. Decreases affinity for UDP-glucose. No effect on inhibition by UDP-xylose. No effect on hysteresis and cooperativity.", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" }, { "database": "PubMed", "id": "30457329", "url": "https://glygen.org/publication/PubMed/30457329" } ] }, { "start_pos": 104, "end_pos": 104, "sequence_org": "A", "sequence_mut": "L", "comment": "No significant effect on catalytic activity and on affinity for NAD and UDP-glucose. Decreases affinity for the inhibitor UDP-xylose. Disrupts hysteresis and cooperativity.", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" }, { "database": "PubMed", "id": "30457329", "url": "https://glygen.org/publication/PubMed/30457329" } ] }, { "start_pos": 131, "end_pos": 131, "sequence_org": "T", "sequence_mut": "A", "comment": "Reduced affinity for UDP-glucose, and reduced catalytic efficiency.", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" }, { "database": "PubMed", "id": "21502315", "url": "https://glygen.org/publication/PubMed/21502315" } ] }, { "start_pos": 132, "end_pos": 132, "sequence_org": "V", "sequence_mut": "", "comment": "Nearly abolishes enzyme activity. Stabilizes the enzyme in a low-activity hexameric conformation.", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" }, { "database": "PubMed", "id": "21961565", "url": "https://glygen.org/publication/PubMed/21961565" } ] }, { "start_pos": 136, "end_pos": 136, "sequence_org": "A", "sequence_mut": "M", "comment": "Stabilizes the active conformation of the hexamer. Decreases affinity for UDP-xylose, but not for UDP-glucose. Disrupts hysteresis and cooperativity.", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" }, { "database": "PubMed", "id": "27966912", "url": "https://glygen.org/publication/PubMed/27966912" }, { "database": "PubMed", "id": "30457329", "url": "https://glygen.org/publication/PubMed/30457329" } ] }, { "start_pos": 161, "end_pos": 161, "sequence_org": "E", "sequence_mut": "Q", "comment": "Abolishes hydrolysis of the covalent intermediate between substrate and the catalytic cysteine residue.", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" }, { "database": "PubMed", "id": "22123821", "url": "https://glygen.org/publication/PubMed/22123821" } ] }, { "start_pos": 220, "end_pos": 220, "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" }, { "database": "PubMed", "id": "22123821", "url": "https://glygen.org/publication/PubMed/22123821" } ] }, { "start_pos": 276, "end_pos": 276, "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" }, { "database": "PubMed", "id": "21502315", "url": "https://glygen.org/publication/PubMed/21502315" } ] }, { "start_pos": 276, "end_pos": 276, "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" }, { "database": "PubMed", "id": "21502315", "url": "https://glygen.org/publication/PubMed/21502315" } ] }, { "start_pos": 280, "end_pos": 280, "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" }, { "database": "PubMed", "id": "22123821", "url": "https://glygen.org/publication/PubMed/22123821" } ] }, { "start_pos": 323, "end_pos": 325, "sequence_org": "FNT", "sequence_mut": "TTD", "comment": "Loss of hexamer formation. Causes formation of stable dimers. Strongly decreased specific activity at pH 8.4.", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" }, { "database": "PubMed", "id": "25478983", "url": "https://glygen.org/publication/PubMed/25478983" } ] }, { "start_pos": 465, "end_pos": 494, "sequence_org": "KVSSKRIPYAPSGEIPKFSLQDPPNKKPKV", "sequence_mut": "SSSSSSSSSSSSSSSSSSSSSSSSSSSSSS", "comment": "No effect on the intrinsically disordered nature of the C-terminus. No effect on affinity for the inhibitor UDP-xylose.", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" }, { "database": "PubMed", "id": "30457329", "url": "https://glygen.org/publication/PubMed/30457329" } ] }, { "start_pos": 465, "end_pos": 494, "sequence_org": "KVSSKRIPYAPSGEIPKFSLQDPPNKKPKV", "sequence_mut": "", "comment": "Strongly decreases affinity for the inhibitor UDP-xylose.", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" }, { "database": "PubMed", "id": "30457329", "url": "https://glygen.org/publication/PubMed/30457329" } ] }, { "start_pos": 94, "end_pos": 94, "sequence_org": "K", "sequence_mut": "E", "comment": "Loss of hexamer formation. Causes formation of stable dimers. Strongly reduced affinity for NAD and UDP-glucose, and strongly decreased catalytic efficiency at pH 8.6.", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" }, { "database": "PubMed", "id": "23106432", "url": "https://glygen.org/publication/PubMed/23106432" }, { "database": "PubMed", "id": "25478983", "url": "https://glygen.org/publication/PubMed/25478983" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "88.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109814", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109814" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "88.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109814", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109814" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "94.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109814", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109814" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "61.33", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000109814", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109814" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "93.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109814", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109814" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "97.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109814", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109814" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "93.24", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109814", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109814" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109814", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109814" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": 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"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": 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"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": 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"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": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O60701", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60701" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60701" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O60701", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60701" } ], "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", 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"https://www.ensembl.org/id/ENSP00000422603.1" } ] } }, { "isoform_ac": "E7ER95-1", "url": "", "sequence": { "sequence": "MFEIKKICCIGAGYVGGPTCSVIAHMCPEIRVTVVDVNESRINAWNSPTLPIYEPGLKEVVESCRGKNLFFSTNIDDAIKEADL", "length": 84, "header": "tr|E7ER95-1|UGDH_HUMAN Computationally mapped isoform of UDP-glucose 6-dehydrogenase OS=Homo sapiens OX=9606 GN=UGDH PE=1 SV=8 CANONICAL=O60701-1" }, "locus": { "chromosome": "4", "start_pos": 39521512, "end_pos": 39514095, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000505698.1", "url": "https://www.ensembl.org/id/ENST00000505698.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000422565.1", "url": "https://www.ensembl.org/id/ENSP00000422565.1" } ] } }, { "isoform_ac": "E7ETF4-1", "url": "", "sequence": { "sequence": "MFEIKKICCIGAGYVGGPTCSVIAHMCPEIRVTVVDVNESRINAWNSPTLPIYEPGLKEVVESCRGKNLFFSTNIDDAIKEADLVFISVNTPTKTYGMGKGRAADLKYIEACARRIVQNSNGYKIVTEKSTVPVRAAESIRRIFDANTKPNLN", "length": 153, "header": "tr|E7ETF4-1|UGDH_HUMAN Computationally mapped isoform of UDP-glucose 6-dehydrogenase OS=Homo sapiens OX=9606 GN=UGDH PE=1 SV=1 CANONICAL=O60701-1" }, "locus": { "chromosome": "4", "start_pos": 39521512, "end_pos": 39510667, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000514106.5", "url": "https://www.ensembl.org/id/ENST00000514106.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000425834.1", "url": "https://www.ensembl.org/id/ENSP00000425834.1" } ] } }, { "isoform_ac": "E7EV97-1", "url": "", "sequence": { "sequence": "MWSSGLLIQDSTIMFEIKKICCIGAGYVGGPTCSVIAHMCPEIRVTVVDVNESRINAWNSPTLPIYEPGLKEVVESCRGKNLFFSTNIDDAIKEADLVFISVNTPTKTYGMGKGRAADLKYIEACARRIVQNSNGYKIVTEKSTVPVRAAESIRRIFDANTKPNLNLQVLSNPEFLAEGTA", "length": 181, "header": "tr|E7EV97-1|UGDH_HUMAN Computationally mapped isoform of UDP-glucose 6-dehydrogenase OS=Homo sapiens OX=9606 GN=UGDH PE=1 SV=1 CANONICAL=O60701-1" }, "locus": { "chromosome": "4", "start_pos": 39527084, "end_pos": 39510512, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000515021.5", "url": "https://www.ensembl.org/id/ENST00000515021.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000421954.1", "url": "https://www.ensembl.org/id/ENSP00000421954.1" } ] } }, { "isoform_ac": "E9PBD2-1", "url": "", "sequence": { "sequence": "MFEIKKICCIGAGYVGGPTCSVIAHMCPEIRVTVVDVNESRINAWNSPTLPIYED", "length": 55, "header": "tr|E9PBD2-1|UGDH_HUMAN Computationally mapped isoform of UDP-glucose 6-dehydrogenase OS=Homo sapiens OX=9606 GN=UGDH PE=1 SV=1 CANONICAL=O60701-1" }, "locus": { "chromosome": "4", "start_pos": 39521512, "end_pos": 39514178, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000503779.5", "url": "https://www.ensembl.org/id/ENST00000503779.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000424435.1", "url": "https://www.ensembl.org/id/ENSP00000424435.1" } ] } }, { "isoform_ac": "O60701-1", "url": "", "sequence": { "sequence": "MFEIKKICCIGAGYVGGPTCSVIAHMCPEIRVTVVDVNESRINAWNSPTLPIYEPGLKEVVESCRGKNLFFSTNIDDAIKEADLVFISVNTPTKTYGMGKGRAADLKYIEACARRIVQNSNGYKIVTEKSTVPVRAAESIRRIFDANTKPNLNLQVLSNPEFLAEGTAIKDLKNPDRVLIGGDETPEGQRAVQALCAVYEHWVPREKILTTNTWSSELSKLAANAFLAQRISSINSISALCEATGADVEEVATAIGMDQRIGNKFLKASVGFGGSCFQKDVLNLVYLCEALNLPEVARYWQQVIDMNDYQRRRFASRIIDSLFNTVTDKKIAILGFAFKKDTGDTRESSSIYISKYLMDEGAHLHIYDPKVPREQIVVDLSHPGVSEDDQVSRLVTISKDPYEACDGAHAVVICTEWDMFKELDYERIHKKMLKPAFIFDGRRVLDGLHNELQTIGFQIETIGKKVSSKRIPYAPSGEIPKFSLQDPPNKKPKV", "length": 494, "header": "sp|O60701-1|UGDH_HUMAN Isoform 1 of UDP-glucose 6-dehydrogenase OS=Homo sapiens OX=9606 GN=UGDH PE=1 SV=1 CANONICAL=O60701-1" }, "locus": { "chromosome": "4", "start_pos": 39521512, "end_pos": 39500146, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000506179.5", "url": "https://www.ensembl.org/id/ENST00000506179.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000421757.1", "url": "https://www.ensembl.org/id/ENSP00000421757.1" } ] } }, { "isoform_ac": "O60701-2", "url": "", "sequence": { "sequence": "MFEIKKICCIGAGYVGGPTCSVIAHMCPEIRVTVVDVNESRINAWNSPTLPIYEPGLKEVVESCRGKNLFFSTNIDDAIKEADLVFISVLSNPEFLAEGTAIKDLKNPDRVLIGGDETPEGQRAVQALCAVYEHWVPREKILTTNTWSSELSKLAANAFLAQRISSINSISALCEATGADVEEVATAIGMDQRIGNKFLKASVGFGGSCFQKDVLNLVYLCEALNLPEVARYWQQVIDMNDYQRRRFASRIIDSLFNTVTDKKIAILGFAFKKDTGDTRESSSIYISKYLMDEGAHLHIYDPKVPREQIVVDLSHPGVSEDDQVSRLVTISKDPYEACDGAHAVVICTEWDMFKELDYERIHKKMLKPAFIFDGRRVLDGLHNELQTIGFQIETIGKKVSSKRIPYAPSGEIPKFSLQDPPNKKPKV", "length": 427, "header": "sp|O60701-2|UGDH_HUMAN Isoform 2 of UDP-glucose 6-dehydrogenase OS=Homo sapiens OX=9606 GN=UGDH PE=1 SV=1 CANONICAL=O60701-1" }, "locus": { "chromosome": "4", "start_pos": 39521512, "end_pos": 39500146, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000501493.6", "url": "https://www.ensembl.org/id/ENST00000501493.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000422909.1", "url": "https://www.ensembl.org/id/ENSP00000422909.1" } ] } }, { "isoform_ac": "O60701-3", "url": "", "sequence": { "sequence": "MGKGRAADLKYIEACARRIVQNSNGYKIVTEKSTVPVRAAESIRRIFDANTKPNLNLQVLSNPEFLAEGTAIKDLKNPDRVLIGGDETPEGQRAVQALCAVYEHWVPREKILTTNTWSSELSKLAANAFLAQRISSINSISALCEATGADVEEVATAIGMDQRIGNKFLKASVGFGGSCFQKDVLNLVYLCEALNLPEVARYWQQVIDMNDYQRRRFASRIIDSLFNTVTDKKIAILGFAFKKDTGDTRESSSIYISKYLMDEGAHLHIYDPKVPREQIVVDLSHPGVSEDDQVSRLVTISKDPYEACDGAHAVVICTEWDMFKELDYERIHKKMLKPAFIFDGRRVLDGLHNELQTIGFQIETIGKKVSSKRIPYAPSGEIPKFSLQDPPNKKPKV", "length": 397, "header": "sp|O60701-3|UGDH_HUMAN Isoform 3 of UDP-glucose 6-dehydrogenase OS=Homo sapiens OX=9606 GN=UGDH PE=1 SV=1 CANONICAL=O60701-1" }, "locus": { "chromosome": "4", "start_pos": 39510834, "end_pos": 39500146, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000507089.5", "url": "https://www.ensembl.org/id/ENST00000507089.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000426560.1", "url": "https://www.ensembl.org/id/ENSP00000426560.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 63, "start_aa": "Ser", "end_pos": 63, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser63", "evidence": [ { "id": "O60701", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60701" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "25367160", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25367160" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "O60701", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60701" } ] } ], "phosphorylation": [ { "start_pos": 473, "end_pos": 473, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60701", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60701" }, { "database": "PubMed", "id": "31243371", "url": "https://glygen.org/publication/PubMed/31243371" } ], "site_lbl": "Tyr473" }, { "start_pos": 476, "end_pos": 476, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O60701", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60701" }, { "database": "PubMed", "id": "19562805", "url": "https://glygen.org/publication/PubMed/19562805" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser476" }, { "start_pos": 91, "end_pos": 91, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60701", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60701" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr91" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Molecular characterization of human UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter, a novel nucleotide sugar transporter with dual substrate specificity.", "journal": "FEBS letters", "date": "2001", "authors": "Muraoka M, Kawakita M, Ishida N", "evidence": [ { "database": "Reactome", "id": "R-HSA-173599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-173599" } ], "reference": [ { "type": "PubMed", "id": "11322953", "url": "https://glygen.org/publication/PubMed/11322953" } ] }, { "title": "Characterization of human UDP-glucose dehydrogenase. CYS-276 is required for the second of two successive oxidations.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Sommer BJ, Barycki JJ, Simpson MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-173599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-173599" } ], "reference": [ { "type": "PubMed", "id": "15044486", "url": "https://glygen.org/publication/PubMed/15044486" } ] }, { "title": "Quantitative analysis of phosphopeptides in search of the disease biomarker from the hepatocellular carcinoma specimen.", "journal": "Proteomics", "date": "2009", "authors": "Lee HJ, Na K, Kwon MS, Kim H, Kim KS, Paik YK", "evidence": [ { "database": "iPTMnet", "id": "O60701-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60701-1" } ], "reference": [ { "type": "PubMed", "id": "19562805", "url": "https://glygen.org/publication/PubMed/19562805" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O60701-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60701-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "O60701-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60701-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "title": "Structure and mechanism of human UDP-glucose 6-dehydrogenase.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Egger S, Chaikuad A, Kavanagh KL, Oppermann U, Nidetzky B", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "reference": [ { "type": "PubMed", "id": "21502315", "url": "https://glygen.org/publication/PubMed/21502315" } ] }, { "title": "Role of packing defects in the evolution of allostery and induced fit in human UDP-glucose dehydrogenase.", "journal": "Biochemistry", "date": "2011", "authors": "Kadirvelraj R, Sennett NC, Polizzi SJ, Weitzel S, Wood ZA", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "reference": [ { "type": "PubMed", "id": "21595445", "url": "https://glygen.org/publication/PubMed/21595445" } ] }, { "title": "Conformational flexibility in the allosteric regulation of human UDP-alpha-D-glucose 6-dehydrogenase.", "journal": "Biochemistry", "date": "2011", "authors": "Sennett NC, Kadirvelraj R, Wood ZA", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "reference": [ { "type": "PubMed", "id": "21961565", "url": "https://glygen.org/publication/PubMed/21961565" } ] }, { "title": "Structural basis of cooperativity in human UDP-glucose dehydrogenase.", "journal": "PloS one", "date": "2011", "authors": "Rajakannan V, Lee HS, Chong SH, Ryu HB, Bae JY, Whang EY, Huh JW, Cho SW, Kang LW, Choe H, Robinson RC", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "reference": [ { "type": "PubMed", "id": "21984906", "url": "https://glygen.org/publication/PubMed/21984906" } ] }, { "title": "Structural and kinetic evidence that catalytic reaction of human UDP-glucose 6-dehydrogenase involves covalent thiohemiacetal and thioester enzyme intermediates.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Egger S, Chaikuad A, Klimacek M, Kavanagh KL, Oppermann U, Nidetzky B", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "reference": [ { "type": "PubMed", "id": "22123821", "url": "https://glygen.org/publication/PubMed/22123821" } ] }, { "title": "Cofactor binding triggers a molecular switch to allosterically activate human UDP-alpha-D-glucose 6-dehydrogenase.", "journal": "Biochemistry", "date": "2012", "authors": "Sennett NC, Kadirvelraj R, Wood ZA", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "reference": [ { "type": "PubMed", "id": "23106432", "url": "https://glygen.org/publication/PubMed/23106432" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" }, { "database": "iPTMnet", "id": "O60701", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60701" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "The human embryonic stem cell proteome revealed by multidimensional fractionation followed by tandem mass spectrometry.", "journal": "Proteomics", "date": "2015", "authors": "Zhao P, Schulz TC, Sherrer ES, Weatherly DB, Robins AJ, Wells L", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60701", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60701" }, { "database": "O-GlcNAc Atlas", "id": "O60701", "url": "https://oglcnac.org/atlas/detail/O60701" } ], "reference": [ { "type": "PubMed", "id": "25367160", "url": "https://glygen.org/publication/PubMed/25367160" } ] }, { "title": "Hysteresis in human UDP-glucose dehydrogenase is due to a restrained hexameric structure that favors feedback inhibition.", "journal": "Biochemistry", "date": "2014", "authors": "Kadirvelraj R, Custer GS, Keul ND, Sennett NC, Sidlo AM, Walsh RM Jr, Wood ZA", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "reference": [ { "type": "PubMed", "id": "25478983", "url": "https://glygen.org/publication/PubMed/25478983" } ] }, { "title": "Comparative analysis of Cu (I)-catalyzed alkyne-azide cycloaddition (CuAAC) and strain-promoted alkyne-azide cycloaddition (SPAAC) in O-GlcNAc proteomics.", "journal": "Electrophoresis", "date": "2016", "authors": "Li S, Zhu H, Wang J, Wang X, Li X, Ma C, Wen L, Yu B, Wang Y, Li J, Wang PG", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60701", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60701" } ], "reference": [ { "type": "PubMed", "id": "26853435", "url": "https://glygen.org/publication/PubMed/26853435" } ] }, { "title": "Allostery and Hysteresis Are Coupled in Human UDP-Glucose Dehydrogenase.", "journal": "Biochemistry", "date": "2017", "authors": "Beattie NR, Keul ND, Sidlo AM, Wood ZA", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "reference": [ { "type": "PubMed", "id": "27966912", "url": "https://glygen.org/publication/PubMed/27966912" } ] }, { "title": "Combinatorial regulation of hepatic cytoplasmic signaling and nuclear transcriptional events by the OGT/REV-ERBalpha complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Berthier A, Vinod M, Porez G, Steenackers A, Alexandre J, Yamakawa N, Gheeraert C, Ploton M, Marechal X, Dubois-Chevalier J, Hovasse A, Schaeffer-Reiss C, Cianferani S, Rolando C, Bray F, Duez H, Eeckhoute J, Lefebvre T, Staels B, Lefebvre P", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60701", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60701" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "The entropic force generated by intrinsically disordered segments tunes protein function.", "journal": "Nature", "date": "2018", "authors": "Keul ND, Oruganty K, Schaper Bergman ET, Beattie NR, McDonald WE, Kadirvelraj R, Gross ML, Phillips RS, Harvey SC, Wood ZA", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "reference": [ { "type": "PubMed", "id": "30420606", "url": "https://glygen.org/publication/PubMed/30420606" } ] }, { "title": "Hysteresis and Allostery in Human UDP-Glucose Dehydrogenase Require a Flexible Protein Core.", "journal": "Biochemistry", "date": "2018", "authors": "Beattie NR, Pioso BJ, Sidlo AM, Keul ND, Wood ZA", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "reference": [ { "type": "PubMed", "id": "30457329", "url": "https://glygen.org/publication/PubMed/30457329" } ] }, { "title": "UDP-glucose accelerates SNAI1 mRNA decay and impairs lung cancer metastasis.", "journal": "Nature", "date": "2019", "authors": "Wang X, Liu R, Zhu W, Chu H, Yu H, Wei P, Wu X, Zhu H, Gao H, Liang J, Li G, Yang W", "evidence": [ { "database": "iPTMnet", "id": "O60701", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60701" } ], "reference": [ { "type": "PubMed", "id": "31243371", "url": "https://glygen.org/publication/PubMed/31243371" } ] }, { "title": "Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.", "journal": "Nature communications", "date": "2020", "authors": "Hengel H, Bosso-Lefevre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot E, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Gilboa T, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AA, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Ng AYJ, Tang S, Tohari S, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Mor-Shaked H, Maddirevula S, Begtrup A, Telegrafi A, Pfundt R, Schule R, Ciruna B, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Lefeber DJ, Alkuraya FS, Mathuru AS, Venkatesh B, Barycki JJ, Simpson MA, Jamuar SS, Schols L, Reversade B", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "reference": [ { "type": "PubMed", "id": "32001716", "url": "https://glygen.org/publication/PubMed/32001716" } ] }, { "title": "UDP-glucose 6-dehydrogenase knockout impairs migration and decreases in vivo metastatic ability of breast cancer cells.", "journal": "Cancer letters", "date": "2020", "authors": "Teoh ST, Ogrodzinski MP, Lunt SY", "evidence": [ { "database": "RefSeq", "id": "NP_001171629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171629" } ], "reference": [ { "type": "PubMed", "id": "32768525", "url": "https://glygen.org/publication/PubMed/32768525" } ] }, { "title": "Targeting UDP-glucose dehydrogenase inhibits ovarian cancer growth and metastasis.", "journal": "Journal of cellular and molecular medicine", "date": "2020", "authors": "Lin LH, Chou HC, Chang SJ, Liao EC, Tsai YT, Wei YS, Chen HY, Lin MW, Wang YS, Chien YA, Yu XR, Chan HL", "evidence": [ { "database": "RefSeq", "id": "NP_001171629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171629" } ], "reference": [ { "type": "PubMed", "id": "32893977", "url": "https://glygen.org/publication/PubMed/32893977" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60701", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60701" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60701", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60701" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60701", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60701" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "UDP-glucose 6-dehydrogenase lessens sorafenib sensitivity via modulating unfolded protein response.", "journal": "Biochemical and biophysical research communications", "date": "2022", "authors": "Guo B, Xu X, Shao M, Yang X, He G, Qi K, Gu J, Wang L", "evidence": [ { "database": "RefSeq", "id": "NP_001171629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171629" } ], "reference": [ { "type": "PubMed", "id": "35617808", "url": "https://glygen.org/publication/PubMed/35617808" } ] }, { "title": "Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations.", "journal": "Molecular genetics & genomic medicine", "date": "2023-08-18", "authors": "Jiang Liangliang, Bi Shaohua, Lin Li, He Fan, Deng Fang", "evidence": [ { "database": "RefSeq", "id": "NP_001171629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171629" } ], "reference": [ { "type": "PubMed", "id": "37593999", "url": "https://glygen.org/publication/PubMed/37593999" } ] }, { "title": "UGDH promotes tumor-initiating cells and a fibroinflammatory tumor microenvironment in ovarian cancer.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2023-10-19", "authors": "Harrington Brittney S, Kamdar Rahul, Ning Franklin, Korrapati Soumya, Caminear Michael W, Hernandez Lidia F, Butcher Donna, Edmondson Elijah F, Traficante Nadia, Hendley Joy, , Gough Madeline, Rogers Rebecca, Lourie Rohan, Shetty Jyoti, Tran Bao, Elloumi Fathi, Abdelmaksoud Abdalla, Nag Madhu Lal, Mazan-Mamczarz Krystyna, House Carrie D, Hooper John D, Annunziata Christina M", "evidence": [ { "database": "RefSeq", "id": "NP_001171629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171629" } ], "reference": [ { "type": "PubMed", "id": "37858159", "url": "https://glygen.org/publication/PubMed/37858159" } ] }, { "title": "Molecular cloning and characterization of the human and mouse UDP-glucose dehydrogenase genes.", "journal": "J. Biol. Chem.", "date": "1998", "authors": "Spicer A P, Kaback L A, Smith T J, Seldin M F", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "reference": [ { "type": "PubMed", "id": "9737970", "url": "https://glygen.org/publication/PubMed/9737970" } ] }, { "title": "cDNA cloning and expression analysis of the human UDPglucose dehydrogenase.", "journal": "Proc. Natl. Sci. Counc. Repub. China, B, Life Sci.", "date": "1998", "authors": "Peng H L, Lou M D, Chang M L, Chang H Y", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "reference": [ { "type": "PubMed", "id": "9850599", "url": "https://glygen.org/publication/PubMed/9850599" } ] } ], "pathway": [ { "id": "hsa:7358", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7358", "resource": "KEGG Pathway" }, { "id": "R-HSA-173599", "name": "Formation of the active cofactor, UDP-glucuronate", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-173599", "resource": "Reactome", "description": "Formation of the active cofactor, UDP-glucuronate" } ], "orthologs": [ { "uniprot_canonical_ac": "O02373-1", "protein_name": "UDP-glucose 6-dehydrogenase", "gene_name": "sgl", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MKVCCIGAGYVGGPTCAVMALKCPDIVITLVDKSSERIAQWNSDKLPIYEPGLDEVVKKCRNVNLFFSTDIETAIKEADLIFISVNTPTKTCGNGKGRAADLKYVESAARMIAEIAQSNKIVVEKSTVPVRAAESIMHILRANQKPGIHYDILSNPEFLAEGTAINDLLNADRVLIGGEETPEGHQAVEKLSWIYEHWIPKQNILTTNTWSSELSKLAANAFLAQRISSINSLSAVCEATGADVSEVARAVGLDSRIGSKFLQASVGFGGSCFQKDILNLIYICENLNLPEVAAYWQQVIDMNEYQKRRFSQKIIESLFNTVSDKRIAILGFAFKKNTGDTRETAAITVCQTLLEEGAALDIYDPKVEPEQIIDDLTHPSVTESPEKVKKAVQIHSDPYSAVRATHALVICTEWDEFVDLDFKRIYQSMMKPAYIFDGRKILDHERLQQIGFHVQTIGKKYQRTGLLRSWGIVPQL", "length": 476 }, "evidence": [ { "id": "O60701", "url": "https://omabrowser.org/oma/group/O60701/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "O70199-1", "protein_name": "UDP-glucose 6-dehydrogenase", "gene_name": "Ugdh", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MVEIKKICCIGAGYVGGPTCSVIARMCPEIRVTVVDVNEARINAWNSPTLPIYEPGLKEVVESCRGKNLFFSTNIDDAIREADLVFISVNTPTKTYGMGKGRAADLKYIEACARRIVQNSNGYKIVTEKSTVPVRAAESIRRIFDANTKPNLNLQVLSNPEFLAEGTAIKDLKNPDRVLIGGDETPEGQRAVQALCAVYEHWVPKEKILTTNTWSSELSKLAANAFLAQRISSINSISALCESTGADVEEVATAIGMDQRIGNKFLKASVGFGGGCFQKDVLNLVYLCEALNLPEVARYWQQVIDMNDYQRRRFASRIIDSLFNTVTDKKIAILGFAFKKDTGDTRESSSIYISKYLMDEGAHLHIYDPKVPREQIVVDLSHPGVSADDQVSRLVTISKDPYEACDGAHALVICTEWDMFKELDYERIHKRMLKPAFIFDGRRVLDGLHNELQTIGFQIETIGKKVSSKRIPYTPGEIPKFSLQDPPNKKPKV", "length": 493 }, "evidence": [ { "id": "45916720", "url": "http://www.informatics.jax.org/homology/45916720", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "O70475-1", "protein_name": "UDP-glucose 6-dehydrogenase", "gene_name": "Ugdh", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MVEIKKICCIGAGYVGGPTCSVIAHMCPEIRVTVVDVNEARINAWNSPTLPIYEPGLKEVVESCRGKNLFFSTNIDDAIREADLVFISVNTPTKTYGMGKGRAADLKYIEACARRIVQNSNGYKIVTEKSTVPVRAAESIRRIFDANTKPNLNLQVLSNPEFLAEGTAIKDLKNPDRVLIGGDETPEGQKAVRALCAVYEHWVPKEKILTTNTWSSELSKLAANAFLAQRISSINSISALCEATGADVEEVATAIGMDQRIGNKFLKASVGFGGSCFQKDVLNLVYLCEALNLPEVARYWQQVIDMNDYQRRRFASRIIDSLFNTVTDKKIAILGFAFKKDTGDTRESSSIYISKYLMDEGAHLHIYDPKVPREQIVVDLSHPGVSADDQVSRLVTISKDPYEACDGAHALVICTEWDMFKELDYERIHKKMLKPAFIFDGRRVLDGLHSELQTIGFQIETIGKKVSSKRIPYTPGEIPKFSLQDPPNKKPKV", "length": 493 }, "evidence": [ { "id": "45916720", "url": "http://www.informatics.jax.org/homology/45916720", "database": "MGI" }, { "id": "O60701", "url": "https://omabrowser.org/oma/group/O60701/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "NAD binding", "id": "GO:0051287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051287", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "pmid": "" }, { "name": "UDP-glucose 6-dehydrogenase activity", "id": "GO:0003979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003979", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "pmid": "" }, { "name": "gastrulation with mouth forming second", "id": "GO:0001702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001702", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "pmid": "" }, { "name": "glycosaminoglycan biosynthetic process", "id": "GO:0006024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006024", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "pmid": "" }, { "name": "heparan sulfate proteoglycan biosynthetic process", "id": "GO:0015012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015012", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "pmid": "" }, { "name": "UDP-glucuronate biosynthetic process", "id": "GO:0006065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006065", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "pmid": "" }, { "name": "chondroitin sulfate biosynthetic process", "id": "GO:0030206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030206", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "pmid": "" }, { "name": "protein hexamerization", "id": "GO:0034214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034214", "evidence": [ { "database": "UniProtKB", "id": "O60701", "url": "https://www.uniprot.org/uniprot/O60701" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 38, "end_pos": 40, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "23596", "name": "", "equation": "H2O + 2 NAD(+) + UDP-alpha-D-glucose = 3 H(+) + 2 NADH + UDP-alpha-D-glucuronate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O70199-1", "O60701-1", "O70475-1", "O02373-1" ], "evidence": [ { "id": "23596", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/23596" } ] }, { "id": "R-HSA-173597", "name": "UDP-glucose is oxidised to UDP-glucuronate", "equation": "", "summary": "UDP-glucose dehydrogenase (UGDH) catalyzes the conversion of UDP-glucose to UDP-glucuronic acid. The cytosolic enzyme is active as a hexamer and performs two successive oxidations to convert the 6'-hydroxyl of UDP-glucose to a carboxylate with concurrent reduction of 2 mol of NAD+ to NADH.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O60701-1" ], "evidence": [ { "id": "R-HSA-173597", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-173597" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "O02373", "gene_name": "sgl", "activity": [ { "ec_number": "1.1.1.22", "activity": "H2O + 2 NAD(+) + UDP-alpha-D-glucose = 3 H(+) + 2 NADH + UDP-alpha-D-glucuronate.", "evidence": [ { "id": "O02373", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O02373" } ] }, { "ec_number": "1.1.1.22", "activity": "", "evidence": [ { "id": "O02373", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O02373" } ] } ] }, { "uniprot_ac": "O60701", "gene_name": "UGDH", "activity": [ { "ec_number": "1.1.1.22", "activity": "H2O + 2 NAD(+) + UDP-alpha-D-glucose = 3 H(+) + 2 NADH + UDP-alpha-D-glucuronate.", "evidence": [ { "id": "O60701", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60701" } ] }, { "ec_number": "1.1.1.22", "activity": "", "evidence": [ { "id": "O60701", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60701" } ] } ] }, { "uniprot_ac": "O70199", "gene_name": "Ugdh", "activity": [ { "ec_number": "1.1.1.22", "activity": "H2O + 2 NAD(+) + UDP-alpha-D-glucose = 3 H(+) + 2 NADH + UDP-alpha-D-glucuronate.", "evidence": [ { "id": "O70199", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O70199" } ] }, { "ec_number": "1.1.1.22", "activity": "", "evidence": [ { "id": "O70199", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O70199" } ] } ] }, { "uniprot_ac": "O70475", "gene_name": "Ugdh", "activity": [ { "ec_number": "1.1.1.22", "activity": "H2O + 2 NAD(+) + UDP-alpha-D-glucose = 3 H(+) + 2 NADH + UDP-alpha-D-glucuronate.", "evidence": [ { "id": "O70475", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O70475" } ] }, { "ec_number": "1.1.1.22", "activity": "", "evidence": [ { "id": "O70475", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O70475" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 63 ], "snv_sites": [ 63, 92, 211 ], "glycation_sites": [], "phosphorylation_sites": [ 91, 473, 476 ], "sequon_annotation_sites": [ { "start_pos": 38, "end_pos": 40 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "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": 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": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "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": 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": "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": 3 }, { "field": "total_sites", "count": 3 } ], "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": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 32 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }