{ "uniprot_canonical_ac": "O94923-1", "uniprot_ac": "O94923", "uniprot_id": "GLCE_HUMAN", "mass": { "chemical_mass": 70101.0, "monoisotopic_mass": 70101.0 }, "refseq": { "ac": "NP_001311022", "name": "D-glucuronyl C5-epimerase isoform 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311022" }, "gene_names": [ { "name": "GLCE", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O94923", "id": "O94923" }, { "name": "GLCE", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311022", "id": "NP_001311022" }, { "name": "HSEPI", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311022", "id": "NP_001311022" }, { "name": "KIAA0836", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94923", "id": "O94923" } ], "protein_names": [ { "name": "D-glucuronyl C5-epimerase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O94923" }, { "name": "5.1.3.17", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94923" }, { "name": "D-glucuronyl C5-epimerase isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311022", "id": "NP_001311022" }, { "name": "Heparan sulfate C5-epimerase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94923" }, { "name": "Heparin/heparan sulfate:glucuronic acid C5-epimerase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94923" }, { "name": "Heparosan-N-sulfate-glucuronate 5-epimerase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94923" }, { "name": "Hsepi", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94923" }, { "name": "heparan sulfate epimerase; glucuronyl C5-epimerase; UDP-glucuronic acid epimerase; D-glucuronyl C5-epimerase; heparin/heparan sulfate-glucuronic acid C5-epimerase; heparan sulfate C5-epimerase; heparosan-N-sulfate-glucuronate 5-epimerase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311022", "id": "NP_001311022" } ], "function": [ { "annotation": "Converts D-glucuronic acid residues adjacent to N-sulfate sugar residues to L-iduronic acid residues, both in maturing heparan sulfate (HS) and heparin chains. This is important for further modifications that determine the specificity of interactions between these glycosaminoglycans and proteins.", "evidence": [ { "database": "UniProtKB", "id": "O94923", "url": "https://www.uniprot.org/uniprot/O94923#function" }, { "database": "PubMed", "id": "30872481", "url": "https://glygen.org/publication/PubMed/30872481" }, { "database": "PubMed", "id": "20118238", "url": "https://glygen.org/publication/PubMed/20118238" }, { "database": "PubMed", "id": "22528493", "url": "https://glygen.org/publication/PubMed/22528493" } ] }, { "annotation": "Elucidating the unusual reaction kinetics of D-glucuronyl C5-epimerase.", "evidence": [ { "database": "RefSeq", "id": "NP_001311022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311022" }, { "database": "PubMed", "id": "32304324", "url": "https://glygen.org/publication/PubMed/32304324" } ] }, { "annotation": "Glycolysis- and immune-related novel prognostic biomarkers of Ewing's sarcoma: glucuronic acid epimerase and triosephosphate isomerase 1.", "evidence": [ { "database": "RefSeq", "id": "NP_001311022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311022" }, { "database": "PubMed", "id": "34233293", "url": "https://glygen.org/publication/PubMed/34233293" } ] }, { "annotation": "In 82-84% of human breast tumors there is either downregulation or loss of D-glucuronyl C5-epimerase mRNA expression and significant decrease of the protein content", "evidence": [ { "database": "RefSeq", "id": "NP_001311022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311022" }, { "database": "PubMed", "id": "17985344", "url": "https://glygen.org/publication/PubMed/17985344" } ] }, { "annotation": "Results found the expression of GLCE is significantly decreased in the brains of frontotemporal lobar degeneration cases relative to normal controls, demonstrating the potential disease relevance of the candidate gene identified. Furthermore, knockdown of GLCE in cultured human cells protects against oxidative stress induced pTDP accumulation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001311022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311022" }, { "database": "PubMed", "id": "31834878", "url": "https://glygen.org/publication/PubMed/31834878" } ] }, { "annotation": "Substrate binding mode and catalytic mechanism of human heparan sulfate d-glucuronyl C5 epimerase.", "evidence": [ { "database": "RefSeq", "id": "NP_001311022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311022" }, { "database": "PubMed", "id": "30872481", "url": "https://glygen.org/publication/PubMed/30872481" } ] }, { "annotation": "The obtained data suggest an involvement of GLCE rs3865014 in breast cancer development. Heterozygous AG genotype might be a risk factor for breast cancer susceptibility in Siberian women and is associated with aggressive ER-negative and triple-negative cancer subtypes.", "evidence": [ { "database": "RefSeq", "id": "NP_001311022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311022" }, { "database": "PubMed", "id": "28734894", "url": "https://glygen.org/publication/PubMed/28734894" } ] }, { "annotation": "The regulation of GLCE expression by 2 cis-acting elements of the beta-catenin-TCF4 complex located in the enhancer region of the promoter are reported.", "evidence": [ { "database": "RefSeq", "id": "NP_001311022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311022" }, { "database": "PubMed", "id": "15853773", "url": "https://glygen.org/publication/PubMed/15853773" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O94923", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94923" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 157, "end_pos": 157, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SYS->NYS).", "chr_id": "15", "chr_pos": "69256276", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S157", "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" ] }, { "evidence": [ { "id": "rs1469594900", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1469594900" }, { "id": "rs1469594900", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1469594900#frequency_tab" }, { "id": "rs1469594900", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1469594900" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 225, "end_pos": 225, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->SLT).", "chr_id": "15", "chr_pos": "69261174", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N225", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759578866", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759578866" }, { "id": "rs759578866", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759578866" }, { "id": "rs759578866", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759578866" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 271, "end_pos": 271, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVK->NVT).", "chr_id": "15", "chr_pos": "69261312", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K271", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O94923", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94923" } ], "glycoeffect": [], "start_pos": 2, "end_pos": 2, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "69255810", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2", "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" } ] }, { "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: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 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"" }, { "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": 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{ "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 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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": "O94923", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94923" } ], "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/O94923" } ], "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": [ { 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O94923", "url": "https://www.uniprot.org/uniprot/O94923" } ], "common_name": "Human" } ], "gene": [ { "name": "GLCE", "url": "https://www.uniprot.org/uniprot/O94923", "locus": { "chromosome": "15", "start_pos": 69272217, "end_pos": 69160584, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000138604", "url": "https://www.ensembl.org/id/ENSG00000138604" } ] } } ], "crossref": [ { "id": "ENSG00000138604", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138604", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O94923", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94923", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "5.1.3.17", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=5.1.3.17&UniProtAcc=O94923", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "GLCE", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLCE", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "26035", "url": "https://www.ncbi.nlm.nih.gov/gene/26035", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "17855", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=17855", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O94923", "url": "https://www.ebi.ac.uk/intact/interactors/id:O94923*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR010598", "url": "https://www.ebi.ac.uk/interpro/entry/IPR010598", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR039721", "url": "https://www.ebi.ac.uk/interpro/entry/IPR039721", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:26035", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:26035", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "612134", "url": "http://www.omim.org/entry/612134", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O94923", "url": "https://www.nextprot.org/entry/NX_O94923", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "RGVFMYF", "url": "https://omabrowser.org/oma/group/RGVFMYF/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5392022at2759", "url": "http://www.orthodb.org/?query=5392022at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR13174", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13174", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR13174:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13174:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "6HZZ", "url": "https://www.rcsb.org/structure/6HZZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6I01", "url": "https://www.rcsb.org/structure/6I01", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6I02", "url": "https://www.rcsb.org/structure/6I02", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF06662", "url": "http://pfam.xfam.org/family/PF06662", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF21174", "url": "http://pfam.xfam.org/family/PF21174", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O94923", "url": "https://pharos.nih.gov/targets/O94923", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000050890", "url": "https://proconsortium.org/app/entry/PR:000050890", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_O94923", "url": "http://purl.obolibrary.org/obo/PR_O94923", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001311022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311022", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "20197", "url": "https://www.rhea-db.org/rhea/20197", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "O94923", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "H0YNP1", "url": "https://www.uniprot.org/uniprot/H0YNP1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YNP1-1", "url": "https://www.uniprot.org/uniprot/H0YNP1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94923", "url": "https://www.uniprot.org/uniprot/O94923", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94923-1", "url": "https://www.uniprot.org/uniprot/O94923-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRCLAARVNYKTLIIICALFTLVTVLLWNKCSSDKAIQFPRRSSSGFRVDGFEKRAAASESNNYMNHVAKQQSEEAFPQEQQKAPPVVGGFNSNVGSKVLGLKYEEIDCLINDEHTIKGRREGNEVFLPFTWVEKYFDVYGKVVQYDGYDRFEFSHSYSKVYAQRAPYHPDGVFMSFEGYNVEVRDRVKCISGVEGVPLSTQWGPQGYFYPIQIAQYGLSHYSKNLTEKPPHIEVYETAEDRDKNKPNDWTVPKGCFMANVADKSRFTNVKQFIAPETSEGVSLQLGNTKDFIISFDLKFLTNGSVSVVLETTEKNQLFTIHYVSNAQLIAFKERDIYYGIGPRTSWSTVTRDLVTDLRKGVGLSNTKAVKPTKIMPKKVVRLIAKGKGFLDNITISTTAHMAAFFAASDWLVRNQDEKGGWPIMVTRKLGEGFKSLEPGWYSAMAQGQAISTLVRAYLLTKDHIFLNSALRATAPYKFLSEQHGVKAVFMNKHDWYEEYPTTPSSFVLNGFMYSLIGLYDLKETAGEKLGKEARSLYERGMESLKAMLPLYDTGSGTIYDLRHFMLGIAPNLARWDYHTTHINQLQLLSTIDESPVFKEFVKRWKSYLKGSRAKHN", "length": 617, "header": "sp|O94923-1|GLCE_HUMAN Isoform 1 of D-glucuronyl C5-epimerase OS=Homo sapiens OX=9606 GN=GLCE PE=1 SV=3 CANONICAL=O94923-1" }, "isoforms": [ { "isoform_ac": "H0YNP1-1", "url": "", "sequence": { "sequence": "MNHVAKQQSEEAFPQEQQKAPPVVGGFNSNVGSKVLGLKYEEIDCLINDEHTIKGRREGNEVFLPFTWVEKYFDVYGKVVQYDGYDRFEFSHSYSKVYAQRAPYHPDGVFMSFEGYNVEVRDRVKCISGVEGVPLSTQWGPQGYFYPIQIAQYGLSHYSKNLTEKPPHIEVYETAEDRDKNKPNDWTVPKGCFMANVADKSRFTNVKQFIAPETSEGVSLQLGNTKDFIISFDLKFLTNGSVSVVLETTEKNQLFTIHYVSNAQLIAFKERDIYYGIGPRTSWSTVTRDLVTDLRKGVGLSNTKAVKPTKIMPKKVVRLIAKGKGFLDNITISTTAHMAAFFAASDWLVRNQDEKGGWPIMVTRKLGEGFKSLEPGWYSAMAQGQAISTLVRAYLLTKDHIFLNSALRATAPYKFLSEQHGVKAVFMNKHDWYEEYPTTPSSFVLNGFMYSLIGLYDLKETAGEKLGKEARSLYERGMESLKAMLPLYDTGSGTIYDLRHFMLGIAPNLARWDYHTTHINQLQLLSTIDESPVFKEFVKRWKSYLKGSRAKHN", "length": 553, "header": "tr|H0YNP1-1|GLCE_HUMAN Computationally mapped isoform of D-glucuronyl C5-epimerase OS=Homo sapiens OX=9606 GN=GLCE PE=1 SV=1 CANONICAL=O94923-1" }, "locus": { "chromosome": "15", "start_pos": 69269241, "end_pos": 69255999, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000559420.2", "url": "https://www.ensembl.org/id/ENST00000559420.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000454092.1", "url": "https://www.ensembl.org/id/ENSP00000454092.1" } ] } }, { "isoform_ac": "O94923-1", "url": "", "sequence": { "sequence": "MRCLAARVNYKTLIIICALFTLVTVLLWNKCSSDKAIQFPRRSSSGFRVDGFEKRAAASESNNYMNHVAKQQSEEAFPQEQQKAPPVVGGFNSNVGSKVLGLKYEEIDCLINDEHTIKGRREGNEVFLPFTWVEKYFDVYGKVVQYDGYDRFEFSHSYSKVYAQRAPYHPDGVFMSFEGYNVEVRDRVKCISGVEGVPLSTQWGPQGYFYPIQIAQYGLSHYSKNLTEKPPHIEVYETAEDRDKNKPNDWTVPKGCFMANVADKSRFTNVKQFIAPETSEGVSLQLGNTKDFIISFDLKFLTNGSVSVVLETTEKNQLFTIHYVSNAQLIAFKERDIYYGIGPRTSWSTVTRDLVTDLRKGVGLSNTKAVKPTKIMPKKVVRLIAKGKGFLDNITISTTAHMAAFFAASDWLVRNQDEKGGWPIMVTRKLGEGFKSLEPGWYSAMAQGQAISTLVRAYLLTKDHIFLNSALRATAPYKFLSEQHGVKAVFMNKHDWYEEYPTTPSSFVLNGFMYSLIGLYDLKETAGEKLGKEARSLYERGMESLKAMLPLYDTGSGTIYDLRHFMLGIAPNLARWDYHTTHINQLQLLSTIDESPVFKEFVKRWKSYLKGSRAKHN", "length": 617, "header": "sp|O94923-1|GLCE_HUMAN Isoform 1 of D-glucuronyl C5-epimerase OS=Homo sapiens OX=9606 GN=GLCE PE=1 SV=3 CANONICAL=O94923-1" }, "locus": { "chromosome": "15", "start_pos": 69269241, "end_pos": 69255807, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000261858.7", "url": "https://www.ensembl.org/id/ENST00000261858.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000261858.2", "url": "https://www.ensembl.org/id/ENSP00000261858.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 225, "start_aa": "Asn", "end_pos": 225, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn225", "evidence": [ { "id": "O94923", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94923#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "6I02", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/6I02" }, { "id": "6I01", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/6I01" }, { "id": "6HZZ", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/6HZZ" }, { "id": "30872481", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30872481" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 303, "start_aa": "Asn", "end_pos": 303, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn303", "evidence": [ { "id": "O94923", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94923#ptm_processing" }, { "id": "6I02", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/6I02" }, { "id": "6I01", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/6I01" }, { "id": "6HZZ", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/6HZZ" }, { "id": "30872481", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30872481" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 393, "start_aa": "Asn", "end_pos": 393, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn393", "evidence": [ { "id": "O94923", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94923#ptm_processing" }, { "id": "6I02", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/6I02" }, { "id": "6I01", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/6I01" }, { "id": "6HZZ", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/6HZZ" }, { "id": "30872481", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30872481" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "RSSSGFRVDGFEK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 42, "start_aa": "Arg", "end_pos": 54, "end_aa": "Lys", "evidence": [ { "id": "O94923", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 44, "start_aa": "Ser", "end_pos": 44, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser44", "evidence": [ { "id": "O94923", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "RVDGFEKRAAASESNNY", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 48, "start_aa": "Arg", "end_pos": 64, "end_aa": "Tyr", "evidence": [ { "id": "O94923", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "AAASESNNYMNHVAK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 56, "start_aa": "Ala", "end_pos": 70, "end_aa": "Lys", "evidence": [ { "id": "O94923", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 59, "start_aa": "Ser", "end_pos": 59, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser59", "evidence": [ { "id": "O94923", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 59, "start_aa": "Ser", "end_pos": 59, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser59", "evidence": [ { "id": "O94923", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": 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"EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "O94923", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Probing the O-Glycoproteome of Gastric Cancer Cell Lines for Biomarker Discovery", "journal": "Molecular & Cellular Proteomics", "date": "2015", "authors": "Campos D., Freitas D., Gomes J., Magalh\u00e3es A., Steentoft C., Gomes C., Vester-Christensen M. B., Ferreira J. A., Afonso L. P., Santos L. L., Pinto de Sousa J., Mandel U., Clausen H., Vakhrushev S. Y., Reis C. A.", "evidence": [ { "database": "UniCarbKB", "id": "O94923", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1074/mcp.M114.046862", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "title": "The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "McCormick C, Duncan G, Goutsos KT, Tufaro F", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "10639137", "url": "https://glygen.org/publication/PubMed/10639137" } ] }, { "title": "The occurrence of three isoforms of heparan sulfate 6-O-sulfotransferase having different specificities for hexuronic acid adjacent to the targeted N-sulfoglucosamine.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Habuchi H, Tanaka M, Habuchi O, Yoshida K, Suzuki H, Ban K, Kimata K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "10644753", "url": "https://glygen.org/publication/PubMed/10644753" } ] }, { "title": "Expression of heparan sulphate L-iduronyl 2-O-sulphotransferase in human kidney 293 cells results in increased D-glucuronyl 2-O-sulphation.", "journal": "The Biochemical journal", "date": "2000", "authors": "Rong J, Habuchi H, Kimata K, Lindahl U, Kusche-Gullberg M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "10677367", "url": "https://glygen.org/publication/PubMed/10677367" } ] }, { "title": "Heparan sulfate proteoglycans on the cell surface: versatile coordinators of cellular functions.", "journal": "The international journal of biochemistry & cell biology", "date": "2000", "authors": "Tumova S, Woods A, Couchman JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "10716625", "url": "https://glygen.org/publication/PubMed/10716625" } ] }, { "title": "Multiple isozymes of heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase. Structure and activity of the fourth member, NDST4.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Aikawa J, Grobe K, Tsujimoto M, Esko JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "11087757", "url": "https://glygen.org/publication/PubMed/11087757" } ] }, { "title": "Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes.", "journal": "Cell motility and the cytoskeleton", "date": "2001", "authors": "Bernard MA, Hall CE, Hogue DA, Cole WG, Scott A, Snuggs MB, Clines GA, Ludecke HJ, Lovett M, Van Winkle WB, Hecht JT", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "11169766", "url": "https://glygen.org/publication/PubMed/11169766" } ] }, { "title": "Characterization of the D-glucuronyl C5-epimerase involved in the biosynthesis of heparin and heparan sulfate.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Li JP, Gong F, El Darwish K, Jalkanen M, Lindahl U", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "11274177", "url": "https://glygen.org/publication/PubMed/11274177" } ] }, { "title": "Cloning, Golgi localization, and enzyme activity of the full-length heparin/heparan sulfate-glucuronic acid C5-epimerase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Crawford BE, Olson SK, Esko JD, Pinhal MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "11279150", "url": "https://glygen.org/publication/PubMed/11279150" } ] }, { "title": "Heparan sulfate 3-O-sulfotransferase isoform 5 generates both an antithrombin-binding site and an entry receptor for herpes simplex virus, type 1.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Xia G, Chen J, Tiwari V, Ju W, Li JP, Malmstrom A, Shukla D, Liu J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "12138164", "url": "https://glygen.org/publication/PubMed/12138164" } ] }, { "title": "Biosynthesis of heparan sulphate with diverse structures and functions: two alternatively spliced forms of human heparan sulphate 6-O-sulphotransferase-2 having different expression patterns and properties.", "journal": "The Biochemical journal", "date": "2003", "authors": "Habuchi H, Miyake G, Nogami K, Kuroiwa A, Matsuda Y, Kusche-Gullberg M, Habuchi O, Tanaka M, Kimata K", "evidence": [ { "database": "Reactome", "id": 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"authors": "Ishida N, Kuba T, Aoki K, Miyatake S, Kawakita M, Sanai Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "15607426", "url": "https://glygen.org/publication/PubMed/15607426" } ] }, { "title": "The human D-glucuronyl C5-epimerase gene is transcriptionally activated through the beta-catenin-TCF4 pathway.", "journal": "The Biochemical journal", "date": "2005", "authors": "Ghiselli G, Agrawal A", "evidence": [ { "database": "RefSeq", "id": "NP_001311022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311022" } ], "reference": [ { "type": "PubMed", "id": "15853773", "url": "https://glygen.org/publication/PubMed/15853773" } ] }, { "title": "Characterization of the N-deacetylase domain from the heparan sulfate N-deacetylase/N-sulfotransferase 2.", "journal": "Biochemical and biophysical research communications", "date": "2006", "authors": "Duncan MB, Liu M, Fox C, Liu J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "16343444", "url": "https://glygen.org/publication/PubMed/16343444" } ] }, { "title": "Decreased expression of human D-glucuronyl C5-epimerase in breast cancer.", "journal": "International journal of cancer", "date": "2008", "authors": "Grigorieva E, Eshchenko T, Rykova VI, Chernakov A, Zabarovsky E, Sidorov SV", "evidence": [ { "database": "RefSeq", "id": "NP_001311022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311022" } ], "reference": [ { "type": "PubMed", "id": "17985344", "url": "https://glygen.org/publication/PubMed/17985344" } ] }, { "title": "Phosphoproteome analysis of the human Chang liver cells using SCX and a complementary mass spectrometric strategy.", "journal": "Proteomics", "date": "2008", "authors": "Sui S, Wang J, Yang B, Song L, Zhang J, Chen M, Liu J, Lu Z, Cai Y, Chen S, Bi W, Zhu Y, He F, Qian X", "evidence": [ { "database": "iPTMnet", "id": "O94923", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94923" } ], "reference": [ { "type": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ] }, { "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": "O94923", "url": "https://www.uniprot.org/uniprot/O94923#ptm_processing" }, { "database": "UniProtKB", "id": "O94923", "url": "https://www.uniprot.org/uniprot/O94923" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "Using engineered 2-O-sulfotransferase to determine the activity of heparan sulfate C5-epimerase and its mutants.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Li K, Bethea HN, Liu J", "evidence": [ { "database": "UniProtKB", "id": "O94923", "url": "https://www.uniprot.org/uniprot/O94923" } ], "reference": [ { "type": "PubMed", "id": "20118238", "url": "https://glygen.org/publication/PubMed/20118238" } ] }, { "title": "Target selection of heparan sulfate hexuronic acid 2-O-sulfotransferase.", "journal": "Glycobiology", "date": "2010", "authors": "Smeds E, Feta A, Kusche-Gullberg M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "20554947", "url": "https://glygen.org/publication/PubMed/20554947" } ] }, { "title": "Uncovering biphasic catalytic mode of C5-epimerase in heparan sulfate biosynthesis.", "journal": "The Journal of biological chemistry", "date": "2012-06-15", "authors": "Sheng Juzheng, Xu Yongmei, Dulaney Steven B, Huang Xuefei, Liu Jian", "evidence": [ { "database": "UniProtKB", "id": "O94923", "url": "https://www.uniprot.org/uniprot/O94923" } ], "reference": [ { "type": "PubMed", "id": "22528493", "url": "https://glygen.org/publication/PubMed/22528493" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "O94923", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "Probing the O-glycoproteome of gastric cancer cell lines for biomarker discovery.", "journal": "Molecular & cellular proteomics : MCP", "date": "2015", "authors": "Campos D, Freitas 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}, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "O94923", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "Substrate binding mode and catalytic mechanism of human heparan sulfate d-glucuronyl C5 epimerase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2019", "authors": "Debarnot C, Monneau YR, Roig-Zamboni V, Delauzun V, Le Narvor C, Richard E, Henault J, Goulet A, Fadel F, Vives RR, Priem B, Bonnaffe D, Lortat-Jacob H, Bourne Y", "evidence": [ { "database": "UniProtKB", "id": "O94923", "url": "https://www.uniprot.org/uniprot/O94923#ptm_processing" }, { "database": "UniProtKB", "id": "O94923", "url": 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Complete cDNA cloning in human and partial cloning in Chinese hamster ovary cells.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Habuchi H, Kobayashi M, Kimata K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "9535912", "url": "https://glygen.org/publication/PubMed/9535912" } ] }, { "title": "Molecular cloning and expression of a third member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Aikawa J, Esko JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "9915799", "url": "https://glygen.org/publication/PubMed/9915799" } ] }, { "title": "Multiple isoforms of heparan sulfate D-glucosaminyl 3-O-sulfotransferase. Isolation, characterization, and expression of human cdnas and identification of distinct genomic loci.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Shworak NW, Liu J, Petros LM, Zhang L, Kobayashi M, Copeland NG, Jenkins NA, Rosenberg RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "9988767", "url": "https://glygen.org/publication/PubMed/9988767" } ] } ], "pathway": [ { "id": "hsa:26035", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:26035", "resource": "KEGG Pathway" }, { "id": "R-HSA-2022928", "name": "HS-GAG biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928", "resource": "Reactome", "description": "HS-GAG biosynthesis" } ], "orthologs": [ { "uniprot_canonical_ac": "A1Z6M8-1", "protein_name": "heparosan-N-sulfate-glucuronate 5-epimerase", "gene_name": "Hsepi", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MSKYLSSQRDALSAPALPVSRENREPPKFQGVKQREPLVFFIMRLNLKAVLLVLTVAVVVITLGVYMRCAAFSFSPDFVRPLDRSARQSSSGGEATALHDIECSINQEYTVHCKRDENANEVYVPFSFLRNYFDVSGAVSTNSNEVAKFNWVHSTAKVNLPRGKYDARGVYMYFENYNVEVRDRVKCISAAEGVPVSTQWEKRGYFYPTQIAQFALSHYSKNLTEPAPRVRVLEDGDGNQMEWSTPKTSNMTRIWHHKFNTSVVQFETAPGYEGVISIALNQTLDLLLSVDLLLVTNSSSLMITVQNRDTRHNYSLHYIPADLLLSVQDTNIYYGLGGSALNKWRHITRDLHIDLQKGIMGDKRSPLKIRRSDLEVISIGFLGLGFFDNITLSTSDHLAHFYDAAEWFVHNQDPKTGGWTNPVRRSLNGFAELRPGWISAMGQGHAISVLARAYWHSGGDERYLRAAAAGLQPYRVYSRDGGVLAQFMDKFYWYEEYPTTPPSYVLNGFIYSLLGLYDLNSTAPGKIAREAGKLFAQGMHSLKKMLLLFDTGSGTSYDLRHLSLGVAPNLARWDYHATHVNQLLLLATIDSDPLIAQTAERWKGYMFGRRAKHN", "length": 614 }, "evidence": [ { "id": "O94923", "url": "https://omabrowser.org/oma/group/O94923/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "D3ZIK0-1", "protein_name": "heparosan-N-sulfate-glucuronate 5-epimerase", "gene_name": "Glce", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MRCLAARVNYKTLIIICALFTLVTVLLWNKCSSDKAIQFPRHLSSGFRVDGLEKRSAASESNHYANHIAKQQSEEAFPQEQQKAPPVVGGFNSNGGSKVLGLKYEEIDCLINDEHTIRGRREGNEVFLPFTWVEKYFDVYGKVVQYDGYDRFEFSHSYSKVYAQRSPYHPDGVFMSFEGYNVEVRDRVKCISGVEGVPLSTQWGPQGYFYPIQIAQYGLSHYSKNLTEKPPHIEVYETAEDRDRNIRPNEWTVPKGCFMASVADKSRSTNVKQFIAPEAGEGVSLQLGNTKDFIISFDLKFLTNGSVSVVLETTDKNQLFTVHYVSNTQLIAFKDRDIYYGIGPRTSWSTVTRDLVTDLRKGVGLSNTKAVKPTKIMPKKVVRLIAKGKGFLDNITISTTAHMAAFFAASDWLVRNQDEKGGWPIMVTRKLGEGFKSLEPGWYSAMAQGQAISTLVRAYLLTKDYVFLNSALRATAPYKFLSEQHGVKAVFMNKHDWYEEYPTTPSSFVLNGFMYSLIGLYDLKETAGEKLGKEARSLYERGMESLKAMLPLYDTGSGTIYDLRHFMLGIAPNLARWDYHTTHINQLQLLSTIDESPIFKEFVKRWKSYLKGSRAKHN", "length": 618 }, "evidence": [ { "id": "45918822", "url": "http://www.informatics.jax.org/homology/45918822", "database": "MGI" }, { "id": "O94923", "url": "https://omabrowser.org/oma/group/O94923/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9EPS3-1", "protein_name": "D-glucuronyl C5-epimerase", "gene_name": "Glce", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MRCLAARVNYKTLIIICALFTLVTVLLWNKCSSDKAIQFPRHLSSGFRVDGLEKRSAASESNHYANHIAKQQSEEAFPQEQQKAPPVVGGFNSNGGSKVLGLKYEEIDCLINDEHTIKGRREGNEVFLPFTWVEKYFDVYGKVVQYDGYDRFEFSHSYSKVYAQRSPYHPDGVFMSFEGYNVEVRDRVKCISGVEGVPLSTQWGPQGYFYPIQIAQYGLSHYSKNLTEKPPHIEVYETAEDRDRNIRPNEWTVPKGCFMASVADKSRSTNVKQFIAPETSEGVSLQLGNTKDFIISFDLKLLTNGSVSVVLETTEKNQLFTVHYVSNTQLIAFRDRDIYYGIGPRTSWSTVTRDLVTDLRKGVGLSNTKAVKPTKIMPKKVVRLIAKGKGFLDNITISTTAHMAAFFAASDWLVRNQDEKGGWPIMVTRKLGEGFKSLEPGWYSAMAQGQAISTLVRAYLLTKDYVFLSSALRATAPYKFPSEQHGVKAVFMNKHDWYEEYPTTPSSFVLNGFMYSLIGLYDLKETAGETLGKEARSLYERGMESLKAMLPLYDTGSGTIYDLRHFMLGIAPNLARWDYHTTHINQLQLLSTIDESPIFKEFVKRWKSYLKGSRAKHN", "length": 618 }, "evidence": [ { "id": "45918822", "url": "http://www.informatics.jax.org/homology/45918822", "database": "MGI" }, { "id": "O94923", "url": "https://omabrowser.org/oma/group/O94923/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "O94923", "url": "https://www.uniprot.org/uniprot/O94923" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O94923", "url": "https://www.uniprot.org/uniprot/O94923" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "O94923", "url": "https://www.uniprot.org/uniprot/O94923" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "O94923", "url": "https://www.uniprot.org/uniprot/O94923" } ], "pmid": "" }, { "name": "racemase and epimerase activity, acting on carbohydrates and derivatives", "id": "GO:0016857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016857", "evidence": [ { "database": "UniProtKB", "id": "O94923", "url": "https://www.uniprot.org/uniprot/O94923" } ], "pmid": "" }, { "name": "heparosan-N-sulfate-glucuronate 5-epimerase activity", "id": "GO:0047464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047464", "evidence": [ { "database": "UniProtKB", "id": "O94923", "url": "https://www.uniprot.org/uniprot/O94923" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "heparin biosynthetic process", "id": "GO:0030210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030210", "evidence": [ { "database": "UniProtKB", "id": "O94923", "url": "https://www.uniprot.org/uniprot/O94923" } ], "pmid": "" }, { "name": "heparan sulfate proteoglycan biosynthetic process", "id": "GO:0015012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015012", "evidence": [ { "database": "UniProtKB", "id": "O94923", "url": "https://www.uniprot.org/uniprot/O94923" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "D-glucuronyl C5-epimerase O-glycosylated 1 (human)", "definition": "A D-glucuronyl C5-epimerase (human) that has been O-glycosylated at the residue equivalent to Ser-59 of the amino acid sequence represented by UniProtKB:O94923-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O94923-1, Ser-59, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050890", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050890" } ] } ], "site_annotation": [ { "start_pos": 225, "end_pos": 227, "annotation": "n_glycosylation_sequon" }, { "start_pos": 303, "end_pos": 305, "annotation": "n_glycosylation_sequon" }, { "start_pos": 393, "end_pos": 395, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "20197", "name": "", "equation": "[heparosan-N-sulfate](n) = [heparan-N-sulfate](n)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "D3ZIK0-1", "O94923-1", "Q9EPS3-1", "A1Z6M8-1" ], "evidence": [ { "id": "20197", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/20197" } ] }, { "id": "R-HSA-2024100", "name": "GLCE epimerises GlcA to IdoA", "equation": "", "summary": "As the sulfate content rises, so does the iduronic acid:glucuronic acid ratio. Once glucosamine is sulfated, glucuronic acid (GlcA) is epimerised to iduronic acid (IdoA). The enzyme glucuronyl C5-epimerase (GLCE) mediates this reaction, evidence of function and cellular location coming from mouse studies (Li et al. 2001, Crawford et al. 2001). The distinction between HS and heparin is fairly arbritary but generally, low-sulfated and GlcA-rich polysaccharides are called HS and high-sulfated and IdoA-rich polysaccharides are called heparin. It can be argued that this structure can now be called either heparan sulfate-PG or heparin-PG.", "cellular_location": "Golgi lumen, Golgi membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O94923-1" ], "evidence": [ { "id": "R-HSA-2024100", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024100" } ] }, { "id": "R-HSA-2076371", "name": "GLCE epimerises more GlcA to IdoA as sulfate content rises", "equation": "", "summary": "As the sulfate content rises, so does the iduronic acid:glucuronic acid ratio. Once glucosamine is sulfated, glucuronic acid (GlcA) is epimerised to iduronic acid (IdoA). The enzyme glucuronyl C5-epimerase (GLCE) mediates this reaction, evidence of function and cellular location coming from mouse studies (Li et al. 2001, Crawford et al. 2001). The distinction between HS and heparin is fairly arbritary but generally, low-sulfated and GlcA-rich polysaccharides are called HS and high-sulfated and IdoA-rich polysaccharides are called heparin. It can be argued that this structure can now be called either heparan sulfate-PG or heparin-PG.", "cellular_location": "Golgi lumen, Golgi membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O94923-1" ], "evidence": [ { "id": "R-HSA-2076371", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2076371" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A1Z6M8", "gene_name": "Hsepi", "activity": [ { "ec_number": "5.1.3.17", "activity": "[heparosan-N-sulfate](n) = [heparan-N-sulfate](n).", "evidence": [ { "id": "A1Z6M8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A1Z6M8" } ] }, { "ec_number": "5.1.3.17", "activity": "", "evidence": [ { "id": "A1Z6M8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A1Z6M8" } ] } ] }, { "uniprot_ac": "D3ZIK0", "gene_name": "Glce", "activity": [ { "ec_number": "5.1.3.17", "activity": "[heparosan-N-sulfate](n) = [heparan-N-sulfate](n).", "evidence": [ { "id": "D3ZIK0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZIK0" } ] }, { "ec_number": "5.1.3.17", "activity": "", "evidence": [ { "id": "D3ZIK0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZIK0" } ] } ] }, { "uniprot_ac": "O94923", "gene_name": "GLCE", "activity": [ { "ec_number": "5.1.3.17", "activity": "[heparosan-N-sulfate](n) = [heparan-N-sulfate](n).", "evidence": [ { "id": "O94923", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94923" } ] }, { "ec_number": "5.1.3.17", "activity": "", "evidence": [ { "id": "O94923", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94923" } ] } ] }, { "uniprot_ac": "Q9EPS3", "gene_name": "Glce", "activity": [ { "ec_number": "5.1.3.17", "activity": "[heparosan-N-sulfate](n) = [heparan-N-sulfate](n).", "evidence": [ { "id": "Q9EPS3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9EPS3" } ] }, { "ec_number": "5.1.3.17", "activity": "", "evidence": [ { "id": "Q9EPS3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9EPS3" } ] } ] } ], "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": [ 225, 303, 393 ], "o_linked_sites": [ 42, 44, 48, 56, 59 ], "snv_sites": [ 2, 30, 44, 157, 225, 271, 303, 393, 470, 523, 554 ], "glycation_sites": [], "phosphorylation_sites": [ 458 ], "sequon_annotation_sites": [ { "start_pos": 225, "end_pos": 227 }, { "start_pos": 303, "end_pos": 305 }, { "start_pos": 393, "end_pos": 395 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "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": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "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": 6 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "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": 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": 13 }, { "field": "total_sites", "count": 11 } ], "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": 5 }, { "field": "total_sites", "count": 5 } ], "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": 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