{ "uniprot_canonical_ac": "O94766-1", "uniprot_ac": "O94766", "uniprot_id": "B3GA3_HUMAN", "mass": { "chemical_mass": 37122.0, "monoisotopic_mass": 37122.0 }, "refseq": { "ac": "NP_001275652", "name": "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 isoform 4", "summary": "The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. A pseudogene of this gene has been identified on chromosome 3. [provided by RefSeq, Dec 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275652" }, "gene_names": [ { "name": "B3GAT3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O94766", "id": "O94766" }, { "name": "B3GAT3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275652", "id": "NP_001275652" }, { "name": "GLCATI; glcUAT-I; JDSCD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275652", "id": "NP_001275652" }, { "name": "hCG_16017", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94766", "id": "O94766" } ], "protein_names": [ { "name": "Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O94766" }, { "name": "2.4.1.135", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94766" }, { "name": "Beta-1,3-glucuronyltransferase 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94766" }, { "name": "GlcAT-I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94766" }, { "name": "GlcUAT-I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94766" }, { "name": "Glucuronosyltransferase I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94766" }, { "name": "Sqv-8-like protein; galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3; UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase; beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275652", "id": "NP_001275652" }, { "name": "UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94766" }, { "name": "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 isoform 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275652", "id": "NP_001275652" } ], "function": [ { "annotation": "Glycosaminoglycans biosynthesis (PubMed:25893793). Involved in forming the linkage tetrasaccharide present in heparan sulfate and chondroitin sulfate. Transfers a glucuronic acid moiety from the uridine diphosphate-glucuronic acid (UDP-GlcUA) to the common linkage region trisaccharide Gal-beta-1,3-Gal-beta-1,4-Xyl covalently bound to a Ser residue at the glycosaminylglycan attachment site of proteoglycans. Can also play a role in the biosynthesis of l2/HNK-1 carbohydrate epitope on glycoproteins. Shows strict specificity for Gal-beta-1,3-Gal-beta-1,4-Xyl, exhibiting negligible incorporation into other galactoside substrates including Galbeta1-3Gal beta1-O-benzyl, Galbeta1-4GlcNAc and Galbeta1-4Glc. Stimulates 2-phosphoxylose phosphatase activity of PXYLP1 in presence of uridine diphosphate-glucuronic acid (UDP-GlcUA) during completion of linkage region formation (PubMed:24425863).", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766#function" }, { "database": "PubMed", "id": "25893793", "url": "https://glygen.org/publication/PubMed/25893793" }, { "database": "PubMed", "id": "24425863", "url": "https://glygen.org/publication/PubMed/24425863" } ] }, { "annotation": "Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.", "evidence": [ { "database": "RefSeq", "id": "NP_001275652", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275652" }, { "database": "PubMed", "id": "31988067", "url": "https://glygen.org/publication/PubMed/31988067" } ] }, { "annotation": "Since the phenotype of the Nias patients differs from the Larsen-like syndrome described for patients with mutation p.(Arg277Gln), we suggest mutation B3GAT3:p.(Pro140Leu) to cause a different type of GAG linkeropathy showing no involvement of the heart.", "evidence": [ { "database": "RefSeq", "id": "NP_001275652", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275652" }, { "database": "PubMed", "id": "25893793", "url": "https://glygen.org/publication/PubMed/25893793" } ] }, { "annotation": "The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. A pseudogene of this gene has been identified on chromosome 3. [provided by RefSeq, Dec 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001275652", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275652" } ] }, { "annotation": "We identified a novel B3GAT3-related disorder with craniosynostosis and bone fragility, due to a unique homozygous mutation in B3GAT3. This syndrome should be considered in the prenatal period in light of the severe outcome and as an alternative diagnosis to Antley-Bixler or Shprintzen-Goldberg syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001275652", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275652" }, { "database": "PubMed", "id": "28771243", "url": "https://glygen.org/publication/PubMed/28771243" } ] } ], "disease": [ { "disease_id": "DOID:0080575", "recommended_name": { "id": "DOID:0080575", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080575", "name": "Larsen-like syndrome B3GAT3 type", "description": "A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12." }, "synonyms": [ { "id": "DOID:0080575", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080575", "name": "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome", "description": "" }, { "id": "DOID:0080575", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080575", "name": "Larsen-like syndrome, B3GAT3 type", "description": "" }, { "id": "MONDO:0009511", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009511", "name": "Larsen-like syndrome, B3GAT3 type", "description": "Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported." }, { "id": "MONDO:0009511", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009511", "name": "multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects", "description": "" }, { "id": "MONDO:0009511", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009511", "name": "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome", "description": "" }, { "id": "MONDO:0009511", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009511", "name": "JDSCD", "description": "" }, { "id": "MONDO:0009511", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009511", "name": "Larsen syndrome, autosomal recessive", "description": "" }, { "id": "MONDO:0009511", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009511", "name": "Larsen syndrome, autosomal recessive, formerly", "description": "" }, { "id": "MONDO:0009511", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009511", "name": "multiple JOINT dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects", "description": "" }, { "id": "MONDO:0009511", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009511", "name": "multiple JOINT dislocations, short stature, craniofacial dysmorphism, and congenital heart defects", "description": "" }, { "id": "MONDO:0009511", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009511", "name": "multiple Joint dislocations, short stature, and craniofacial Dysmorphism with or without congenital heart defects", "description": "" }, { "id": "MIM:245600", "resource": "MIM", "url": "https://www.omim.org/entry/245600", "name": "Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects", "description": "Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects" } ], "evidence": [ { "id": "0009511", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009511" }, { "id": "245600", "database": "MIM", "url": "https://www.omim.org/entry/245600" }, { "id": "B3GAT3", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/B3GAT3/#!details" }, { "id": "26229", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/26229#disease" } ] } ], "snv": [ { "evidence": [ { "id": "rs760636167", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760636167" }, { "id": "rs760636167", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760636167" }, { "id": "rs760636167", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760636167" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 300, "end_pos": 300, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->SCT).", "chr_id": "11", "chr_pos": "62616516", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N300", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 281, "end_pos": 281, "sequence_org": "E", "sequence_mut": "A", "comment": "Absence of enzymatic activity in presence of uridine diphosphate-glucuronic acid (UDP-GlcUA). Does not increase PXYLP1-induced 2-phosphoxylose phosphatase activity in presence of uridine diphosphate-glucuronic acid (UDP-GlcUA).", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" }, { "database": "PubMed", "id": "24425863", "url": "https://glygen.org/publication/PubMed/24425863" } ] }, { "start_pos": 301, "end_pos": 301, "sequence_org": "C", "sequence_mut": "A", "comment": "Enzyme inactivation and loss of glycosylation.", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" }, { "database": "PubMed", "id": "10842173", "url": "https://glygen.org/publication/PubMed/10842173" } ] }, { "start_pos": 33, "end_pos": 33, "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of dimer formation and reduced activity.", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" }, { "database": "PubMed", "id": "10842173", "url": "https://glygen.org/publication/PubMed/10842173" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "72.36", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000149541", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149541" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "63.23", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000149541", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149541" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "80.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149541", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149541" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "70.16", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000149541", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149541" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "90.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149541", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149541" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149541", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149541" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "66.78", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000149541", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149541" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "79.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149541", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149541" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "89.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149541", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149541" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "67.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000149541", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149541" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "80.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149541", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149541" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "93.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149541", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149541" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "90.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149541", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149541" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O94766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94766" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O94766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94766" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", 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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 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O94766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94766" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O94766", "url": 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"name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"Protein Classification" ] }, { "id": "cd00218", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00218", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "B3GAT3", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GAT3", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "26229", "url": "https://www.ncbi.nlm.nih.gov/gene/26229", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "923", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=923", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O94766", "url": "https://www.ebi.ac.uk/intact/interactors/id:O94766*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR005027", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005027", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029044", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029044", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:26229", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:26229", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "245600", "url": "http://www.omim.org/entry/245600", "database": "MIM", "categories": [ "Other" ] }, { "id": "606374", "url": "http://www.omim.org/entry/606374", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O94766", "url": "https://www.nextprot.org/entry/NX_O94766", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O94766", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94766", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "IEQWCCD", "url": "https://omabrowser.org/oma/group/IEQWCCD/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5321308at2759", "url": "http://www.orthodb.org/?query=5321308at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10896", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10896", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10896:SF65", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10896:SF65", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1FGG", "url": "https://www.rcsb.org/structure/1FGG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1KWS", "url": "https://www.rcsb.org/structure/1KWS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3CU0", "url": "https://www.rcsb.org/structure/3CU0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF03360", "url": "http://pfam.xfam.org/family/PF03360", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O94766", "url": "https://pharos.nih.gov/targets/O94766", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O94766", "url": "http://purl.obolibrary.org/obo/PR_O94766", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3560801", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3560801", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001275652", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275652", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "24168", "url": "https://www.rhea-db.org/rhea/24168", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "O94766", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "E9PNA1", "url": "https://www.uniprot.org/uniprot/E9PNA1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PNA1-1", "url": "https://www.uniprot.org/uniprot/E9PNA1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PQ60", "url": "https://www.uniprot.org/uniprot/E9PQ60", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PQ60-1", "url": "https://www.uniprot.org/uniprot/E9PQ60-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V150", "url": "https://www.uniprot.org/uniprot/G3V150", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V150-1", "url": "https://www.uniprot.org/uniprot/G3V150-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94766-1", "url": "https://www.uniprot.org/uniprot/O94766-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94766-2", "url": "https://www.uniprot.org/uniprot/O94766-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKLKLKNVFLAYFLVSIAGLLYALVQLGQPCDCLPPLRAAAEQLRQKDLRISQLQAELRRPPPAPAQPPEPEALPTIYVVTPTYARLVQKAELVRLSQTLSLVPRLHWLLVEDAEGPTPLVSGLLAASGLLFTHLVVLTPKAQRLREGEPGWVHPRGVEQRNKALDWLRGRGGAVGGEKDPPPPGTQGVVYFADDDNTYSRELFEEMRWTRGVSVWPVGLVGGLRFEGPQVQDGRVVGFHTAWEPSRPFPVDMAGFAVALPLLLDKPNAQFDSTAPRGHLESSLLSHLVDPKDLEPRAANCTRVLVWHTRTEKPKMKQEEQLQRQGRGSDPAIEV", "length": 335, "header": "sp|O94766-1|B3GA3_HUMAN Isoform 1 of Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 OS=Homo sapiens OX=9606 GN=B3GAT3 PE=1 SV=2 CANONICAL=O94766-1" }, "isoforms": [ { "isoform_ac": "E9PNA1-1", "url": "", "sequence": { "sequence": "MKLKLKNVFLAYFLVSIAGLLYALVQLAKGMDRTLPLMQRFRDSATALSSGQPCDCLPPLRAAAEQLRQKDLRISQLQAELRRPPPAPAQPPEPEALPTIYVVTPTYARLVQKAELVRLSQTLSLVPRLHWLLVEDAEGPTPLVSGLLAASGLLFTHLVVLTPKAQRLREGEPGWVHPRGVEQRNKALDWLRGRGGAVGGEKDPPPPGTQGVVYFADDDNTYS", "length": 223, "header": "tr|E9PNA1-1|E9PNA1_HUMAN Computationally mapped isoform of Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase OS=Homo sapiens OX=9606 GN=B3GAT3 PE=1 SV=1 CANONICAL=O94766-1" }, "locus": { "chromosome": "11", "start_pos": 62621947, "end_pos": 62617005, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000534715.1", "url": "https://www.ensembl.org/id/ENST00000534715.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000432854.1", "url": "https://www.ensembl.org/id/ENSP00000432854.1" } ] } }, { "isoform_ac": "E9PQ60-1", "url": "", "sequence": { "sequence": "MKLKLKNVFLAYFLVSIAGLLYALVQLVSASSTKQKAR", "length": 38, "header": "tr|E9PQ60-1|E9PQ60_HUMAN Computationally mapped isoform of Beta-1,3-glucuronyltransferase 3 OS=Homo sapiens OX=9606 GN=B3GAT3 PE=4 SV=1 CANONICAL=O94766-1" }, "locus": { "chromosome": "11", "start_pos": 62621947, "end_pos": 62621262, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000532585.5", "url": "https://www.ensembl.org/id/ENST00000532585.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000432604.1", "url": "https://www.ensembl.org/id/ENSP00000432604.1" } ] } }, { "isoform_ac": "G3V150-1", "url": "", "sequence": { "sequence": "MKLKLKNVFLAYFLVSIAGLLYALVQLGQPCDCLPPLRAAAEQLRQKDLRISQLQAELRRPPPAPAQPPEPEALPTIYVVTPTYARLVQKAELVRLSQTLSLVPRLHWLLVEDAEGPTPLVSGLLAASGLLFTHLVVLTPKAQRLREGEPGWVHPRGVEQRNKALDWLRGRGGAVGGEKDPPPPGTQGVVYFADDDNTYSRELFEEMRWTRGVSVWPVGLVGGLRFEGPQVQDGRVVGFHTAWEPSRPFPVDMAGFAVALPLLLDKPNAQFDSTAPRGHLESSLLSHLVDPKDLEPRAANCTRSLAVSPRLECSSAILA", "length": 319, "header": "tr|G3V150-1|G3V150_HUMAN Computationally mapped isoform of Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase OS=Homo sapiens OX=9606 GN=B3GAT3 PE=1 SV=1 CANONICAL=O94766-1" }, "locus": { "chromosome": "11", "start_pos": 62621947, "end_pos": 62616189, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000531383.5", "url": "https://www.ensembl.org/id/ENST00000531383.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000431359.1", "url": "https://www.ensembl.org/id/ENSP00000431359.1" } ] } }, { "isoform_ac": "O94766-1", "url": "", "sequence": { "sequence": "MKLKLKNVFLAYFLVSIAGLLYALVQLGQPCDCLPPLRAAAEQLRQKDLRISQLQAELRRPPPAPAQPPEPEALPTIYVVTPTYARLVQKAELVRLSQTLSLVPRLHWLLVEDAEGPTPLVSGLLAASGLLFTHLVVLTPKAQRLREGEPGWVHPRGVEQRNKALDWLRGRGGAVGGEKDPPPPGTQGVVYFADDDNTYSRELFEEMRWTRGVSVWPVGLVGGLRFEGPQVQDGRVVGFHTAWEPSRPFPVDMAGFAVALPLLLDKPNAQFDSTAPRGHLESSLLSHLVDPKDLEPRAANCTRVLVWHTRTEKPKMKQEEQLQRQGRGSDPAIEV", "length": 335, "header": "sp|O94766-1|B3GA3_HUMAN Isoform 1 of Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 OS=Homo sapiens OX=9606 GN=B3GAT3 PE=1 SV=2 CANONICAL=O94766-1" }, "locus": { "chromosome": "11", "start_pos": 62621947, "end_pos": 62615704, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000265471.10", "url": "https://www.ensembl.org/id/ENST00000265471.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000265471.5", "url": "https://www.ensembl.org/id/ENSP00000265471.5" } ] } }, { "isoform_ac": "O94766-2", "url": "", "sequence": { "sequence": "MKLKLKNVFLAYFLVSIAGLLYALVQLGQPCDCLPPLRAAAEQLRQKDLRISQLQAELRRPPPAPAQPPEPEALPTIYVVTPTYARLVQKAELVRLSQTLSLVPRLHWLLVEDAEGPTPLVSGLLAASGLLFTHLVVLTPKAQRLREGEPGWVHPRGVEQRNKALDWLRGRGGAVGGEKDPPPPGTQGVVYFADDDNTYSRELFEEMRWTRGVSVWPVGLVGGLRFEGPQVQDGRVVGFHTAWEPSRPFPVDMAGFAVALPLLLDKPNAQFDSTAPRGHLESSLLSHLVDPKDLEPRAANCTRTESRCVTQAGVQ", "length": 315, "header": "sp|O94766-2|B3GA3_HUMAN Isoform 2 of Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 OS=Homo sapiens OX=9606 GN=B3GAT3 PE=1 SV=2 CANONICAL=O94766-1" }, "locus": { "chromosome": "11", "start_pos": 62621947, "end_pos": 62616205, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000534026.5", "url": "https://www.ensembl.org/id/ENST00000534026.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000432474.1", "url": "https://www.ensembl.org/id/ENSP00000432474.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 300, "start_aa": "Asn", "end_pos": 300, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn300", "evidence": [ { "id": "G3V150", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/G3V150#ptm_processing" }, { "id": "PIRSR605027-6", "database": "PIR Site Rule", "url": "https://proteininformationresource.org/cgi-bin/pirrule?id=PIRSR605027-6" }, { "id": "O94766", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94766#ptm_processing" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 311, "start_aa": "Thr", "end_pos": 311, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr311", "evidence": [ { "id": "O94766", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "ISQLQAELR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 51, "start_aa": "Ile", "end_pos": 59, "end_aa": "Arg", "evidence": [ { "id": "O94766", "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": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O94766", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94766" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycosyltransferase-activity", "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported" ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "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": "O94766", "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": "O94766", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1074/mcp.M114.046862", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "title": "Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene family.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Almeida R, Levery SB, Mandel U, Kresse H, Schwientek T, Bennett EP, Clausen H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "10473568", "url": "https://glygen.org/publication/PubMed/10473568" } ] }, { "title": "Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Okajima T, Fukumoto S, Furukawa K, Urano T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "10506123", "url": "https://glygen.org/publication/PubMed/10506123" } ] }, { "title": "Characterization of recombinant human glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans.", "journal": "FEBS Lett.", "date": "1999", "authors": "Tone Y, Kitagawa H, Imiya K, Oka S, Kawasaki T, Sugahara K", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" } ], "reference": [ { "type": "PubMed", "id": "10526176", "url": "https://glygen.org/publication/PubMed/10526176" } ] }, { "title": "Structure/function of the human Ga1beta1,3-glucuronosyltransferase. Dimerization and functional activity are mediated by two crucial cysteine residues.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Ouzzine M, Gulberti S, Netter P, Magdalou J, Fournel-Gigleux S", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" }, { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "10842173", "url": "https://glygen.org/publication/PubMed/10842173" } ] }, { "title": "Heparan/chondroitin sulfate biosynthesis. Structure and mechanism of human glucuronyltransferase I.", "journal": "J. Biol. Chem.", "date": "2000", "authors": "Pedersen LC, Tsuchida K, Kitagawa H, Sugahara K, Darden TA, Negishi M", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" } ], "reference": [ { "type": "PubMed", "id": "10946001", "url": "https://glygen.org/publication/PubMed/10946001" } ] }, { "title": "Molecular cloning and expression of human UDP-d-Xylose:proteoglycan core protein beta-d-xylosyltransferase and its first isoform XT-II.", "journal": "Journal of molecular biology", "date": "2000", "authors": "Gotting C, Kuhn J, Zahn R, Brinkmann T, Kleesiek K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "11099377", "url": "https://glygen.org/publication/PubMed/11099377" } ] }, { "title": "Biosynthesis of the linkage region of glycosaminoglycans: cloning and activity of galactosyltransferase II, the sixth member of the beta 1,3-galactosyltransferase family (beta 3GalT6).", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Bai X, Zhou D, Brown JR, Crawford BE, Hennet T, Esko JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "11551958", "url": "https://glygen.org/publication/PubMed/11551958" } ] }, { "title": "Crystal structure of beta 1,3-glucuronyltransferase I in complex with active donor substrate UDP-GlcUA.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Pedersen LC, Darden TA, Negishi M", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" } ], "reference": [ { "type": "PubMed", "id": "11950836", "url": "https://glygen.org/publication/PubMed/11950836" } ] }, { "title": "Cloning, characterization, and chromosome mapping of the human GlcAT-S gene.", "journal": "Journal of human genetics", "date": "2002", "authors": "Marcos I, Galan JJ, Borrego S, Antinolo G", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "12522689", "url": "https://glygen.org/publication/PubMed/12522689" } ] }, { "title": "Structural basis for acceptor substrate recognition of a human glucuronyltransferase, GlcAT-P, an enzyme critical in the biosynthesis of the carbohydrate epitope HNK-1.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kakuda S, Shiba T, Ishiguro M, Tagawa H, Oka S, Kajihara Y, Kawasaki T, Wakatsuki S, Kato R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "14993226", "url": "https://glygen.org/publication/PubMed/14993226" } ] }, { "title": "Analysis of the DXD motifs in human xylosyltransferase I required for enzyme activity.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Gotting C, Muller S, Schottler M, Schon S, Prante C, Brinkmann T, Kuhn J, Kleesiek K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "15294915", "url": "https://glygen.org/publication/PubMed/15294915" } ] }, { "title": "Human xylosyltransferase I: functional and biochemical characterization of cysteine residues required for enzymic activity.", "journal": "The Biochemical journal", "date": "2005", "authors": "Muller S, Schottler M, Schon S, Prante C, Brinkmann T, Kuhn J, Gotting C, Kleesiek K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "15461586", "url": "https://glygen.org/publication/PubMed/15461586" } ] }, { "title": "XT-II, the second isoform of human peptide-O-xylosyltransferase, displays enzymatic activity.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Voglmeir J, Voglauer R, Wilson IB", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "17194707", "url": "https://glygen.org/publication/PubMed/17194707" } ] }, { "title": "2-o-phosphorylation of xylose and 6-O-sulfation of galactose in the protein linkage region of glycosaminoglycans influence the glucuronyltransferase-I activity involved in the linkage region synthesis.", "journal": "J. Biol. Chem.", "date": "2008", "authors": "Tone Yuko, Pedersen Lars C, Yamamoto Tomoko, Izumikawa Tomomi, Kitagawa Hiroshi, Nishihara Junko, Tamura Jun-Ichi, Negishi Masahiko, Sugahara Kazuyuki", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" } ], "reference": [ { "type": "PubMed", "id": "18400750", "url": "https://glygen.org/publication/PubMed/18400750" } ] }, { "title": "Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.", "journal": "American journal of human genetics", "date": "2011", "authors": "Baasanjav S, Al-Gazali L, Hashiguchi T, Mizumoto S, Fischer B, Horn D, Seelow D, Ali BR, Aziz SA, Langer R, Saleh AA, Becker C, Nurnberg G, Cantagrel V, Gleeson JG, Gomez D, Michel JB, Stricker S, Lindner TH, Nurnberg P, Sugahara K, Mundlos S, Hoffmann K", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" }, { "database": "Reactome", "id": "R-HSA-3560801", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3560801" } ], "reference": [ { "type": "PubMed", "id": "21763480", "url": "https://glygen.org/publication/PubMed/21763480" } ] }, { "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": "O94766", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "Identification of phosphatase that dephosphorylates xylose in the glycosaminoglycan-protein linkage region of proteoglycans.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Koike T, Izumikawa T, Sato B, Kitagawa H", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" } ], "reference": [ { "type": "PubMed", "id": "24425863", "url": "https://glygen.org/publication/PubMed/24425863" } ] }, { "title": "Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype.", "journal": "American journal of medical genetics. Part A", "date": "2014", "authors": "von Oettingen JE, Tan WH, Dauber A", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" } ], "reference": [ { "type": "PubMed", "id": "24668659", "url": "https://glygen.org/publication/PubMed/24668659" } ] }, { "title": "Probing the O-glycoproteome of gastric cancer cell lines for biomarker discovery.", "journal": "Molecular & cellular proteomics : MCP", "date": "2015", "authors": "Campos D, Freitas D, Gomes J, Magalhaes A, Steentoft C, Gomes C, Vester-Christensen MB, Ferreira JA, Afonso LP, Santos LL, Pinto de Sousa J, Mandel U, Clausen H, Vakhrushev SY, Reis CA", "evidence": [ { "database": "UniCarbKB", "id": "O94766", "url": "" } ], "reference": [ { "type": "PubMed", "id": "25813380", "url": "https://glygen.org/publication/PubMed/25813380" } ] }, { "title": "Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.", "journal": "Human genetics", "date": "2015", "authors": "Budde BS, Mizumoto S, Kogawa R, Becker C, Altmuller J, Thiele H, Ruschendorf F, Toliat MR, Kaleschke G, Hammerle JM, Hohne W, Sugahara K, Nurnberg P, Kennerknecht I", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" }, { "database": "RefSeq", "id": "NP_001275652", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275652" } ], "reference": [ { "type": "PubMed", "id": "25893793", "url": "https://glygen.org/publication/PubMed/25893793" } ] }, { "title": "A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.", "journal": "American journal of medical genetics. Part A", "date": "2015", "authors": "Jones KL, Schwarze U, Adam MP, Byers PH, Mefford HC", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" } ], "reference": [ { "type": "PubMed", "id": "26086840", "url": "https://glygen.org/publication/PubMed/26086840" } ] }, { "title": "B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.", "journal": "Genetics in medicine : official journal of the American College of Medical Genetics", "date": "2018", "authors": "Yauy K, Tran Mau-Them F, Willems M, Coubes C, Blanchet P, Herlin C, Taleb Arrada I, Sanchez E, Faure JM, Le Gac MP, Prodhomme O, Boland A, Meyer V, Riviere JB, Duffourd Y, Deleuze JF, Guignard T, Captier G, Barat-Houari M, Genevieve D", "evidence": [ { "database": "RefSeq", "id": "NP_001275652", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275652" } ], "reference": [ { "type": "PubMed", "id": "28771243", "url": "https://glygen.org/publication/PubMed/28771243" } ] }, { "title": "Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.", "journal": "Journal of medical genetics", "date": "2020", "authors": "Byrne AB, Mizumoto S, Arts P, Yap P, Feng J, Schreiber AW, Babic M, King-Smith SL, Barnett CP, Moore L, Sugahara K, Mutlu-Albayrak H, Nishimura G, Liebelt JE, Yamada S, Savarirayan R, Scott HS", "evidence": [ { "database": "RefSeq", "id": "NP_001275652", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275652" } ], "reference": [ { "type": "PubMed", "id": "31988067", "url": "https://glygen.org/publication/PubMed/31988067" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O94766", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94766" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Molecular cloning and expression of glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans.", "journal": "J. Biol. Chem.", "date": "1998", "authors": "Kitagawa H, Tone Y, Tamura J, Neumann KW, Ogawa T, Oka S, Kawasaki T, Sugahara K", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" }, { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "9506957", "url": "https://glygen.org/publication/PubMed/9506957" } ] }, { "title": "A beta-1,3-N-acetylglucosaminyltransferase with poly-N-acetyllactosamine synthase activity is structurally related to beta-1,3-galactosyltransferases.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Zhou D, Dinter A, Gutierrez Gallego R, Kamerling JP, Vliegenthart JF, Berger EG, Hennet T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "9892646", "url": "https://glygen.org/publication/PubMed/9892646" } ] }, { "title": "Three proteins involved in Caenorhabditis elegans vulval invagination are similar to components of a glycosylation pathway.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1999", "authors": "Herman T, Horvitz HR", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" } ], "reference": [ { "type": "PubMed", "id": "9927678", "url": "https://glygen.org/publication/PubMed/9927678" } ] } ], "pathway": [ { "id": "hsa:26229", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:26229", "resource": "KEGG Pathway" }, { "id": "R-HSA-1971475", "name": "A tetrasaccharide linker sequence is required for GAG synthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475", "resource": "Reactome", "description": "A tetrasaccharide linker sequence is required for GAG synthesis" }, { "id": "R-HSA-3560801", "name": "Defective B3GAT3 causes JDSSDHD", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3560801", "resource": "Reactome", "description": "Defective B3GAT3 causes JDSSDHD" } ], "orthologs": [ { "uniprot_canonical_ac": "P58158-1", "protein_name": "Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3", "gene_name": "B3gat3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MKLKLKNVFLAYFLVSIAGLLYALVQLGQPCDCLPPLRAAAEQLRQKDLRISQLQADLRRPPPVPAQPPEPEALPTIYVITPTYARLVQKAELVRLSQTLSLVPRLHWLLVEDAESPTPLVSGLLAASGLLFTHLAVLTPKAQRLREGEPGWVRPRGVEQRNKALDWLRGKGGAVGGEKDPPPPGTQGVVYFADDDNTYSRELFKEMRWTRGVSVWPVGLVGGLRFEGPQVQDGRVVGFHTAWEPNRPFPLDMAGFAVALPLLLAKPNAQFDATAPRGHLESSLLSHLVDPKDLEPRAANCTQVLVWHTRTEKPKMKQEEQLQRQGQGSDPAIEV", "length": 335 }, "evidence": [ { "id": "45917436", "url": "http://www.informatics.jax.org/homology/45917436", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" } ], "pmid": "" }, { "name": "cis-Golgi network", "id": "GO:0005801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005801", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "protein glycosylation", "id": "GO:0006486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006486", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" } ], "pmid": "" }, { "name": "positive regulation of intracellular protein transport", "id": "GO:0090316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090316", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" } ], "pmid": "" }, { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" } ], "pmid": "" }, { "name": "positive regulation of catalytic activity", "id": "GO:0043085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043085", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" } ], "pmid": "" }, { "name": "glycosaminoglycan biosynthetic process", "id": "GO:0006024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006024", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" } ], "pmid": "" }, { "name": "heparan sulfate proteoglycan biosynthetic process", "id": "GO:0015012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015012", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" } ], "pmid": "" }, { "name": "chondroitin sulfate proteoglycan biosynthetic process", "id": "GO:0050650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050650", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" } ], "pmid": "" }, { "name": "dermatan sulfate proteoglycan biosynthetic process", "id": "GO:0050651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050651", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" } ], "pmid": "" }, { "name": "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity", "id": "GO:0015018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015018", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" } ], "pmid": "" }, { "name": "glucuronosyltransferase activity", "id": "GO:0015020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015020", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" } ], "pmid": "" }, { "name": "protein phosphatase activator activity", "id": "GO:0072542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072542", "evidence": [ { "database": "UniProtKB", "id": "O94766", "url": "https://www.uniprot.org/uniprot/O94766" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 300, "end_pos": 302, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "24168", "name": "", "equation": "3-O-(beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-seryl-[protein] + UDP-alpha-D-glucuronate = 3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O35789-1", "Q9Z137-1", "D4A4R1-1", "Q9NPZ5-1", "O94766-1", "Q9P2W7-1", "P59270-1", "P58158-1", "Q9CW73-1", "Q9VLA1-1", "Q9VTG7-1", "O97422-1" ], "evidence": [ { "id": "24168", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/24168" } ] }, { "id": "R-HSA-1889955", "name": "B3GAT dimers transfer GlcA to tetrasaccharide linker", "equation": "", "summary": "B3GAT1 (Kitagawa et al. 1998) and B3GAT2 (Marcos et al. 2002) transfer a glucuronate (GlcA) residue via a beta1,3-linkage to a terminal galactose. The B3GATs are homodimeric and require manganese as a cofactor (Kakuda et al. 2004, Ouzzine et al. 2000). The tetrasaccharide linker is now complete, ready to accept further hexosamine additions. The type of hexosamine added is critical in determining which glycosaminoglycan (GAG) is formed.", "cellular_location": "Golgi lumen, Golgi membrane", "input_participant_list": [ "R-ALL-1889970" ], "output_participant_list": [ "R-ALL-205687" ], "enzyme_list": [ "O94766-1", "Q9NPZ5-1", "Q9P2W7-1" ], "evidence": [ { "id": "R-HSA-1889955", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1889955" } ] }, { "id": "R-HSA-3560802", "name": "Defective B3GAT3 does not transfer GlcA to tetrasaccharide linker", "equation": "", "summary": "B3GAT3 (Ouzzine et al. 2000), along with B3GAT1 and 2, transfers a glucuronate (GlcA) residue via a beta1,3-linkage to a terminal galactose to complete the tetrasaccharide linker sequence. The B3GAT3 mutant R277Q causes almost complete loss of activity (3-5% of wt) and results in the production of immature and lower numbers of dermatan sulfate (DS) and chondroitin sulfate (CS) chains (Baasanjav et al. 2011). This defect causes multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (JDSSDHD; MIM:245600).", "cellular_location": "Golgi lumen, Golgi membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O94766-1" ], "evidence": [ { "id": "R-HSA-3560802", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3560802" } ] }, { "id": "R-HSA-9638064", "name": "B3GAT3 dimer transfers GlcA to tetrasaccharide linker", "equation": "", "summary": "Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 (B3GAT3) (Ouzzine et al. 2000) transfer a glucuronate (GlcA) residue via a beta1,3-linkage to a terminal galactose. The B3GATs are homodimeric and require manganese as a cofactor (Kakuda et al. 2004, Ouzzine et al. 2000). The tetrasaccharide linker is now complete, ready to accept further hexosamine additions. The type of hexosamine added is critical in determining which glycosaminoglycan (GAG) is formed.", "cellular_location": "Golgi lumen, Golgi membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O94766-1" ], "evidence": [ { "id": "R-HSA-9638064", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9638064" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-1889970", "participant_name": "UDP-GlcA [Golgi lumen]", "crossref": [ { "id": "000008215691", "database": "ZINC", "url": "" }, { "id": "C00167", "database": "COMPOUND", "url": "" }, { "id": "58052", "database": "ChEBI", "url": "" }, { "id": "C00167", "database": "COMPOUND", "url": "" }, { "id": "58052", "database": "ChEBI", "url": "" }, { "id": "000008215691", "database": "ZINC", "url": "" }, { "id": "C00167", "database": "COMPOUND", "url": "" }, { "id": "58052", "database": "ChEBI", "url": "" }, { "id": "000008215691", "database": "ZINC", "url": "" }, { "id": "000008215691", "database": "ZINC", "url": "" }, { "id": "C00167", "database": "COMPOUND", "url": "" }, { "id": "58052", "database": "ChEBI", "url": "" }, { "id": "000008215691", "database": "ZINC", "url": "" }, { "id": "C00167", "database": "COMPOUND", "url": "" }, { "id": "58052", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-205687", "participant_name": "UDP [Golgi lumen]", "crossref": [ { "id": "58223", "database": "ChEBI", "url": "" }, { "id": "000004490939", "database": "ZINC", "url": "" }, { "id": "58223", "database": "ChEBI", "url": "" }, { "id": "000004490939", "database": "ZINC", "url": "" }, { "id": "58223", "database": "ChEBI", "url": "" }, { "id": "000004490939", "database": "ZINC", "url": "" }, { "id": "58223", "database": "ChEBI", "url": "" }, { "id": "000004490939", "database": "ZINC", "url": "" }, { "id": "58223", "database": "ChEBI", "url": "" }, { "id": "000004490939", "database": "ZINC", "url": "" }, { "id": "58223", "database": "ChEBI", "url": "" }, { "id": "000004490939", "database": "ZINC", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "D4A4R1", "gene_name": "Eml3", "activity": [ { "ec_number": "2.4.1.135", "activity": "3-O-(beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-seryl-[protein] + UDP-alpha-D-glucuronate = 3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "D4A4R1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A4R1" } ] }, { "ec_number": "2.4.1.135", "activity": "", "evidence": [ { "id": "D4A4R1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A4R1" } ] } ] }, { "uniprot_ac": "O35789", "gene_name": "B3gat1", "activity": [ { "ec_number": "2.4.1.135", "activity": "3-O-(beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-seryl-[protein] + UDP-alpha-D-glucuronate = 3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "O35789", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35789" } ] }, { "ec_number": "2.4.1.135", "activity": "", "evidence": [ { "id": "O35789", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35789" } ] } ] }, { "uniprot_ac": "O94766", "gene_name": "B3GAT3", "activity": [ { "ec_number": "2.4.1.135", "activity": "3-O-(beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-seryl-[protein] + UDP-alpha-D-glucuronate = 3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "O94766", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94766" } ] }, { "ec_number": "2.4.1.135", "activity": "", "evidence": [ { "id": "O94766", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94766" } ] } ] }, { "uniprot_ac": "O97422", "gene_name": "GlcAT-I", "activity": [ { "ec_number": "2.4.1.135", "activity": "3-O-(beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-seryl-[protein] + UDP-alpha-D-glucuronate = 3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "O97422", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O97422" } ] }, { "ec_number": "2.4.1.135", "activity": "", "evidence": [ { "id": "O97422", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O97422" } ] } ] }, { "uniprot_ac": "P58158", "gene_name": "B3gat3", "activity": [ { "ec_number": "2.4.1.135", "activity": "3-O-(beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-seryl-[protein] + UDP-alpha-D-glucuronate = 3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "P58158", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P58158" } ] }, { "ec_number": "2.4.1.135", "activity": "", "evidence": [ { "id": "P58158", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P58158" } ] } ] }, { "uniprot_ac": "P59270", "gene_name": "B3gat2", "activity": [ { "ec_number": "2.4.1.135", "activity": "3-O-(beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-seryl-[protein] + UDP-alpha-D-glucuronate = 3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "P59270", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P59270" } ] }, { "ec_number": "2.4.1.135", "activity": "", "evidence": [ { "id": "P59270", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P59270" } ] } ] }, { "uniprot_ac": "Q9CW73", "gene_name": "B3gat1", "activity": [ { "ec_number": "2.4.1.135", "activity": "3-O-(beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-seryl-[protein] + UDP-alpha-D-glucuronate = 3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "Q9CW73", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9CW73" } ] }, { "ec_number": "2.4.1.135", "activity": "", "evidence": [ { "id": "Q9CW73", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9CW73" } ] } ] }, { "uniprot_ac": "Q9NPZ5", "gene_name": "B3GAT2", "activity": [ { "ec_number": "2.4.1.135", "activity": "3-O-(beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-seryl-[protein] + UDP-alpha-D-glucuronate = 3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "Q9NPZ5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NPZ5" } ] }, { "ec_number": "2.4.1.135", "activity": "", "evidence": [ { "id": "Q9NPZ5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NPZ5" } ] } ] }, { "uniprot_ac": "Q9P2W7", "gene_name": "B3GAT1", "activity": [ { "ec_number": "2.4.1.135", "activity": "3-O-(beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-seryl-[protein] + UDP-alpha-D-glucuronate = 3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "Q9P2W7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P2W7" } ] }, { "ec_number": "2.4.1.135", "activity": "", "evidence": [ { "id": "Q9P2W7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P2W7" } ] } ] }, { "uniprot_ac": "Q9VLA1", "gene_name": "GlcAT-S", "activity": [ { "ec_number": "2.4.1.135", "activity": "3-O-(beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-seryl-[protein] + UDP-alpha-D-glucuronate = 3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "Q9VLA1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VLA1" } ] }, { "ec_number": "2.4.1.135", "activity": "", "evidence": [ { "id": "Q9VLA1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VLA1" } ] } ] }, { "uniprot_ac": "Q9VTG7", "gene_name": "GlcAT-P", "activity": [ { "ec_number": "2.4.1.135", "activity": "3-O-(beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-seryl-[protein] + UDP-alpha-D-glucuronate = 3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "Q9VTG7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VTG7" } ] }, { "ec_number": "2.4.1.135", "activity": "", "evidence": [ { "id": "Q9VTG7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VTG7" } ] } ] }, { "uniprot_ac": "Q9Z137", "gene_name": "B3gat2", "activity": [ { "ec_number": "2.4.1.135", "activity": "3-O-(beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-seryl-[protein] + UDP-alpha-D-glucuronate = 3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "Q9Z137", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Z137" } ] }, { "ec_number": "2.4.1.135", "activity": "", "evidence": [ { "id": "Q9Z137", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Z137" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 300 ], "o_linked_sites": [ 51, 311 ], "snv_sites": [ 300 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 300, "end_pos": 302 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 2 }, { "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": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 29 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }