{ "uniprot_canonical_ac": "O43505-1", "uniprot_ac": "O43505", "uniprot_id": "B4GA1_HUMAN", "mass": { "chemical_mass": 47119.0, "monoisotopic_mass": 47119.0 }, "refseq": { "ac": "NP_006867", "name": "beta-1,4-glucuronyltransferase 1", "summary": "This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006867" }, "gene_names": [ { "name": "B4GAT1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43505", "id": "O43505" }, { "name": "B3GN-T1; B3GNT1; B3GNT6; BETA3GNTI; iGAT; iGNT; MDDGA13", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006867", "id": "NP_006867" }, { "name": "B3GNT1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43505", "id": "O43505" }, { "name": "B3GNT6", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43505", "id": "O43505" }, { "name": "B4GAT1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006867", "id": "NP_006867" } ], "protein_names": [ { "name": "Beta-1,4-glucuronyltransferase 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43505" }, { "name": "2.4.1.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43505" }, { "name": "I-beta-1,3-N-acetylglucosaminyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43505" }, { "name": "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43505" }, { "name": "Poly-N-acetyllactosamine extension enzyme", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43505" }, { "name": "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43505" }, { "name": "beta-1,4-glucuronyltransferase 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006867", "id": "NP_006867" }, { "name": "i-beta-1,3-N-acetylglucosaminyltransferase; UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1; UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6; N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase; beta-1,3-N-acetylglucosaminyltransferase bGnT-6; poly-N-acetyllactosamine extension enzyme", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006867", "id": "NP_006867" }, { "name": "iGnT", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43505" } ], "function": [ { "annotation": "B4GAT1 is involved in the initiation of the LARGE-dependent repeating disaccharide that is necessary for extracellular matrix protein binding to O-mannosylated alpha-dystroglycan. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006867" }, { "database": "PubMed", "id": "25279697", "url": "https://glygen.org/publication/PubMed/25279697" } ] }, { "annotation": "Beta-1,4-glucuronyltransferase involved in O-mannosylation of alpha-dystroglycan (DAG1) (PubMed:19587235, PubMed:23359570, PubMed:25279699, PubMed:25279697). Transfers a glucuronic acid (GlcA) residue onto a xylose (Xyl) acceptor to produce the glucuronyl-beta-1,4-xylose-beta disaccharide primer, which is further elongated by LARGE1, during synthesis of phosphorylated O-mannosyl glycan (PubMed:25279699, PubMed:25279697). Phosphorylated O-mannosyl glycan is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PubMed:25279699, PubMed:25279697). Required for axon guidance; via its function in O-mannosylation of alpha-dystroglycan (DAG1) (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O43505", "url": "https://www.uniprot.org/uniprot/O43505#function" }, { "database": "UniProtKB", "id": "Q8BWP8", "url": "https://www.uniprot.org/uniprot/Q8BWP8#function" }, { "database": "PubMed", "id": "23359570", "url": "https://glygen.org/publication/PubMed/23359570" }, { "database": "PubMed", "id": "19587235", "url": "https://glygen.org/publication/PubMed/19587235" }, { "database": "PubMed", "id": "25279699", "url": "https://glygen.org/publication/PubMed/25279699" }, { "database": "PubMed", "id": "25279697", "url": "https://glygen.org/publication/PubMed/25279697" } ] }, { "annotation": "Report describes the first truncating mutation in B3GNT1 and confirms that this gene, which plays a role in alphaDG glycosylation, is a bona fide disease gene in Walker-Warburg syndrome", "evidence": [ { "database": "RefSeq", "id": "NP_006867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006867" }, { "database": "PubMed", "id": "23877401", "url": "https://glygen.org/publication/PubMed/23877401" } ] }, { "annotation": "These functional studies identify an important role of B3GNT1 in the synthesis of the uncharacterized laminin-binding glycan of alpha-dystroglycan and implicate B3GNT1 as a novel causative gene for Walker-Warburg syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_006867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006867" }, { "database": "PubMed", "id": "23359570", "url": "https://glygen.org/publication/PubMed/23359570" } ] }, { "annotation": "These results demonstrate that B3GNT1 and B4GALT1 physically associate in vitro and in cultured cells, providing insight into possible mechanisms for regulation of polyLacNAc production.", "evidence": [ { "database": "RefSeq", "id": "NP_006867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006867" }, { "database": "PubMed", "id": "19261593", "url": "https://glygen.org/publication/PubMed/19261593" } ] }, { "annotation": "These results identify a previously undescribed role of carbohydrate-dependent cell-basement membrane interaction in tumor suppression and its control by beta3GnT1 and LARGE.", "evidence": [ { "database": "RefSeq", "id": "NP_006867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006867" }, { "database": "PubMed", "id": "19587235", "url": "https://glygen.org/publication/PubMed/19587235" } ] }, { "annotation": "This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_006867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006867" } ] } ], "disease": [ { "disease_id": "DOID:0111238", "recommended_name": { "id": "DOID:0111238", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111238", "name": "congenital muscular dystrophy-dystroglycanopathy type A13", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2." }, "synonyms": [ { "id": "DOID:0111238", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111238", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13", "description": "" }, { "id": "DOID:0111238", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111238", "name": "MDDGA13", "description": "" }, { "id": "DOID:0111238", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111238", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related", "description": "" }, { "id": "DOID:0111238", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111238", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related", "description": "" }, { "id": "MONDO:0014120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014120", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13", "description": "" }, { "id": "MONDO:0014120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014120", "name": "MDDGA13", "description": "" }, { "id": "MONDO:0014120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014120", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, B3Gnt1-related", "description": "" }, { "id": "MONDO:0014120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014120", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13", "description": "" }, { "id": "MIM:615287", "resource": "MIM", "url": "https://www.omim.org/entry/615287", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13" } ], "evidence": [ { "id": "0014120", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014120" }, { "id": "615287", "database": "MIM", "url": "https://www.omim.org/entry/615287" } ] } ], "snv": [ { "evidence": [ { "id": "rs540890052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs540890052" }, { "id": "rs540890052", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs540890052" }, { "id": "rs540890052", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs540890052" }, { "id": "rs540890052", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs540890052" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 204, "end_pos": 204, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->KVS).", "chr_id": "11", "chr_pos": "66346934", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "N204", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1008311913", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1008311913" }, { "id": "rs1008311913", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1008311913#frequency_tab" }, { "id": "rs1008311913", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1008311913" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 204, "end_pos": 204, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->SVS).", "chr_id": "11", "chr_pos": "66346935", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N204", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1165012258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1165012258" }, { "id": "rs1165012258", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1165012258#frequency_tab" }, { "id": "rs1165012258", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1165012258" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 302, "end_pos": 302, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYS->NYF).", "chr_id": "11", "chr_pos": "66346641", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S302", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1243146726", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1243146726" }, { "id": "rs1243146726", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1243146726" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 369, "end_pos": 369, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEG->NES).", "chr_id": "11", "chr_pos": "66346192", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G369", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746966446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746966446" }, { "id": "rs746966446", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746966446" }, { "id": "rs746966446", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746966446" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 74, "end_pos": 74, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DAS->NAS).", "chr_id": "11", "chr_pos": "66347326", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D74", "disease": [ { "disease_id": "DOID:0111238", "recommended_name": { "id": "DOID:0111238", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111238", "name": "congenital muscular dystrophy-dystroglycanopathy type A13", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2." }, "synonyms": [ { "id": "DOID:0111238", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111238", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13", "description": "" }, { "id": "DOID:0111238", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111238", "name": "MDDGA13", "description": "" }, { "id": "DOID:0111238", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111238", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related", "description": "" }, { "id": "DOID:0111238", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111238", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related", "description": "" }, { "id": "MONDO:0014120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014120", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13", "description": "" }, { "id": "MONDO:0014120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014120", "name": "MDDGA13", "description": "" }, { "id": "MONDO:0014120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014120", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, B3Gnt1-related", "description": "" }, { "id": "MONDO:0014120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014120", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13", "description": "" }, { "id": "MIM:615287", "resource": "MIM", "url": "https://www.omim.org/entry/615287", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "mutagenesis": [ { "start_pos": 155, "end_pos": 155, "sequence_org": "M", "sequence_mut": "T", "comment": "In Mut3; mislocalization to the endoplasmic reticulum.", "evidence": [ { "database": "UniProtKB", "id": "O43505", "url": "https://www.uniprot.org/uniprot/O43505" }, { "database": "PubMed", "id": "25279699", "url": "https://glygen.org/publication/PubMed/25279699" } ] }, { "start_pos": 227, "end_pos": 229, "sequence_org": "DVD", "sequence_mut": "NVN", "comment": "In Mut2; mislocalization to the endoplasmic reticulum.", "evidence": [ { "database": "UniProtKB", "id": "O43505", "url": "https://www.uniprot.org/uniprot/O43505" }, { "database": "PubMed", "id": "25279699", "url": "https://glygen.org/publication/PubMed/25279699" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "87.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000174684", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174684" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "75.17", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000174684", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174684" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "80.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000174684", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174684" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "86.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000174684", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174684" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "91.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000174684", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174684" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "80.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000174684", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174684" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "78.72", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000174684", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174684" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "87.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000174684", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174684" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "87.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000174684", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174684" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "78.68", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000174684", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174684" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "79.77", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000174684", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174684" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "85.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000174684", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174684" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "85.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000174684", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174684" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43505", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43505" } ], "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 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"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": 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"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", 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"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, 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43505", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43505" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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], "publication": [ { "title": "Molecular cloning of a novel alpha2,3-sialyltransferase (ST3Gal VI) that sialylates type II lactosamine structures on glycoproteins and glycolipids.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Okajima T, Fukumoto S, Miyazaki H, Ishida H, Kiso M, Furukawa K, Urano T, Furukawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "10206952", "url": "https://glygen.org/publication/PubMed/10206952" } ] }, { "title": "Cloning and characterization of a mammalian N-acetylglucosamine-6-sulfotransferase that is highly restricted to intestinal tissue.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Lee JK, Bhakta S, Rosen SD, Hemmerich S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "10491328", "url": "https://glygen.org/publication/PubMed/10491328" } ] }, { "title": "Molecular cloning and expression of Galbeta1,3GalNAc alpha2, 3-sialyltransferase from human fetal liver.", "journal": "European journal of biochemistry", "date": "1999", "authors": "Shang J, Qiu R, Wang J, Liu J, Zhou R, Ding H, Yang S, Zhang S, Jin C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "10504389", "url": "https://glygen.org/publication/PubMed/10504389" } ] }, { "title": "Keratan sulfate: structure, biosynthesis, and function.", "journal": "Glycobiology", "date": "2000", "authors": "Funderburgh JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "11030741", "url": "https://glygen.org/publication/PubMed/11030741" } ] }, { "title": "Identification and characterization of three novel beta 1,3-N-acetylglucosaminyltransferases structurally related to the beta 1,3-galactosyltransferase family.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Shiraishi N, Natsume A, Togayachi A, Endo T, Akashima T, Yamada Y, Imai N, Nakagawa S, Koizumi S, Sekine S, Narimatsu H, Sasaki K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "11042166", "url": "https://glygen.org/publication/PubMed/11042166" } ] }, { "title": "Functional expression and genomic structure of human N-acetylglucosamine-6-O-sulfotransferase that transfers sulfate to beta-N-acetylglucosamine at the nonreducing end of an N-acetyllactosamine sequence.", "journal": "Biochimica et biophysica acta", "date": "2000", "authors": "Sakaguchi H, Kitagawa H, Sugahara K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "11042394", "url": "https://glygen.org/publication/PubMed/11042394" } ] }, { "title": "Molecular cloning and characterization of UDP-GlcNAc:lactosylceramide beta 1,3-N-acetylglucosaminyltransferase (beta 3Gn-T5), an essential enzyme for the expression of HNK-1 and Lewis X epitopes on glycolipids.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Togayachi A, Akashima T, Ookubo R, Kudo T, Nishihara S, Iwasaki H, Natsume A, Mio H, Inokuchi J, Irimura T, Sasaki K, Narimatsu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "11283017", "url": "https://glygen.org/publication/PubMed/11283017" } ] }, { "title": "Galactosylation of N-linked oligosaccharides by human beta-1,4-galactosyltransferases I, II, III, IV, V, and VI expressed in Sf-9 cells.", "journal": "Glycobiology", "date": "2001", "authors": "Guo S, Sato T, Shirane K, Furukawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "11588157", "url": "https://glygen.org/publication/PubMed/11588157" } ] }, { "title": "Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.", "journal": "Developmental cell", "date": "2001", "authors": "Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, Inazu T, Mitsuhashi H, Takahashi S, Takeuchi M, Herrmann R, Straub V, Talim B, Voit T, Topaloglu H, Toda T, Endo T", "evidence": [ { "database": "Reactome", "id": "R-HSA-5173105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5173105" } ], "reference": [ { "type": 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Hasilik M, Honing S, Peters V, Heidemann PH, Hoffmann GF, Berger EG, von Figura K, Korner C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "11901181", "url": "https://glygen.org/publication/PubMed/11901181" } ] }, { "title": "Enzymatic synthesis in vitro of the disulfated disaccharide unit of corneal keratan sulfate.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Akama TO, Misra AK, Hindsgaul O, Fukuda MN", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "12218059", "url": "https://glygen.org/publication/PubMed/12218059" } ] }, { "title": "Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.", "journal": "Human molecular genetics", "date": "2003", "authors": "Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5083627", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5083627" } ], "reference": [ { "type": "PubMed", "id": "12966029", "url": "https://glygen.org/publication/PubMed/12966029" } ] }, { "title": "Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Manya H, Chiba A, Yoshida A, Wang X, Chiba Y, Jigami Y, Margolis RU, Endo T", "evidence": [ { "database": "Reactome", "id": "R-HSA-5173105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5173105" } ], "reference": [ { "type": "PubMed", 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"uniprot_canonical_ac": "Q8BWP8-1", "protein_name": "Beta-1,4-glucuronyltransferase 1", "gene_name": "B4gat1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MQMSYAIRCAFYQLLLAALMLVAMLQLLYLSLLSGLHGQEEQEQYFEFFPPSPRSVDQVKSQLRTALASGGVLDASGDYRVYRGLLKTTMDPNDVILATHASVDNLLHLSGLLERWEGPLSVSVFAATKEEAQLATVLAYALSSHCPEMRARVAMHLVCPSRYEAAVPDPREPGEFALLRSCQEVFDKLARVAQPGINYALGTNTSYPNNLLRNLAREEANYALVIDVDMVPSEGLWRGLREMLDQSNHWDGTALVVPAFEIRRSRRMPMNKNELVQLYQVGEVRPFYYGLCTPCHAPTNYSRWVNLPEESLLRPAYVVPWRDPWEPFYVAGGKVPTFDERFRQYGFNRISQACELHVAGFNFEVLNEGFLVHKGFKEALKFHPQKEAENQRNKILYRQFKQELKARYPNSPHRC", "length": 415 }, "evidence": [ { "id": "45927561", "url": "http://www.informatics.jax.org/homology/45927561", "database": "MGI" }, { "id": "O43505", "url": "https://omabrowser.org/oma/group/O43505/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "O43505", "url": "https://www.uniprot.org/uniprot/O43505" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O43505", "url": "https://www.uniprot.org/uniprot/O43505" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O43505", "url": "https://www.uniprot.org/uniprot/O43505" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O43505", "url": "https://www.uniprot.org/uniprot/O43505" } ], "pmid": "" }, { "name": "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity", "id": "GO:0008532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008532", "evidence": [ { "database": "UniProtKB", "id": "O43505", "url": "https://www.uniprot.org/uniprot/O43505" } ], "pmid": "" }, { "name": "glucuronosyltransferase activity", "id": "GO:0015020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015020", "evidence": [ { "database": "UniProtKB", "id": "O43505", "url": "https://www.uniprot.org/uniprot/O43505" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "O43505", "url": "https://www.uniprot.org/uniprot/O43505" } ], "pmid": "" }, { "name": "keratan sulfate biosynthetic process", "id": "GO:0018146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018146", "evidence": [ { "database": "UniProtKB", "id": "O43505", "url": "https://www.uniprot.org/uniprot/O43505" } ], "pmid": "" }, { "name": "protein O-linked mannosylation", "id": "GO:0035269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035269", "evidence": [ { "database": "UniProtKB", "id": "O43505", "url": "https://www.uniprot.org/uniprot/O43505" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 204, "end_pos": 206, "annotation": "n_glycosylation_sequon" }, { "start_pos": 300, "end_pos": 302, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "46860", "name": "", "equation": "3-O-[beta-D-Xyl-(1->4)-Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-(O-6-P-alpha-D-Man)]-Thr-[protein] + UDP-alpha-D-glucuronate = 3-O-[beta-D-GlcA-(1->3)-beta-D-Xyl-(1->4)-Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-(O-6-P-alpha-D-Man)]-Thr-[protein] + H(+) + UDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O43505-1", "Q8BWP8-1" ], "evidence": [ { "id": "46860", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/46860" } ] }, { "id": "R-HSA-2025724", "name": "B3GNT1,2,3,4,7 add GlcNAc to form Keratan-PG", "equation": "", "summary": "The UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase family (B3GNTs) consists of 9 members in humans (Kolbinger et al, 1998; Shiraishi et al, 2001; Togayachi et al, 2001; Iwai et al, 2002; Huang et al, 2004; Ishida et al, 2005; Zheng et al, 2004). Members 1,2,3,4 and 7 can catalyse the addition of N-acetylglucosamine (GlcNAc) to the galactosyl residue of the sachharide chain in a beta-1,3 linkage to form a structure called Keratan-proteoglycan (PG).", "cellular_location": "Golgi lumen, Golgi membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O43505-1", "Q9NY97-1", "Q8NFL0-1", "Q9Y2A9-1", "Q9C0J1-1" ], "evidence": [ { "id": "R-HSA-2025724", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2025724" } ] }, { "id": "R-HSA-5617138", "name": "B4GAT1:GYLTL1B transfers Xyl from UDP-Xyl to GlcA-Xyl-GlcA", "equation": "", "summary": "Glycosyltransferase-like protein LARGE2 (GYLTL1B; MIM:609709) is a bifunctional glycosyltransferase with both xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the biosynthesis of a phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a structure present in alpha-dystroglycan (DAG1) which plays a key role in skeletal muscle function and regeneration (Inamori et al. 2012, Inamori et al. 2013, Wells 2013). LARGE2 belongs to the CAZy glycosyltransferase families GT8 and GT49.", "cellular_location": "Golgi lumen, Golgi membrane", "input_participant_list": [ "R-ALL-8932519" ], "output_participant_list": [ "R-ALL-8932257" ], "enzyme_list": [ "O43505-1", "Q8N3Y3-1" ], "evidence": [ { "id": "R-HSA-5617138", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617138" } ] }, { "id": "R-HSA-5617143", "name": "B4GAT1:GYLTL1B transfers GlcA from UDP-GlcA to Xyl-GlcA", "equation": "", "summary": "Glycosyltransferase-like protein LARGE2 (GYLTL1B) is a bifunctional glycosyltransferases with both xylosyltransferase and beta-1,3-glucuronyltransferase activities which can form polymeric Xyl-GlcA repeats. GYLTL1B is involved in the physiological function of alpha-dystroglycan (DAG1) which plays a key role in skeletal muscle function and regeneration (Inamori et al. 2013, Wells 2013, Inamori et al. 2014).", "cellular_location": "Golgi lumen, Golgi membrane", "input_participant_list": [ "R-ALL-8932520" ], "output_participant_list": [], "enzyme_list": [ "O43505-1", "Q8N3Y3-1" ], "evidence": [ { "id": "R-HSA-5617143", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617143" } ] }, { "id": "R-HSA-6785668", "name": "Defective LARGE does not transfer Xyl from UDP-Xyl to GlcA", "equation": "", "summary": "Glycosyltransferase-like protein LARGE (MIM:603590) is a bifunctional glycosyltransferase with both xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the biosynthesis of a phosphorylated O-mannosyl trisaccharide, a structure present in alpha-dystroglycan (DAG1; MIM:128239) which plays a key role in skeletal muscle function and regeneration. LARGE contains two substrate-specific GT-domains and belongs to the CAZy glycosyltransferase families GT8 and GT49. Defects in LARGE result in hypoglycosylation of DAG1 and cause several congenital muscular dystrophies (CMDs). Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 (MDDGA6; MIM:613154) is associated with brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life (Clement et al. 2008, Mercuri et al. 2009). Muscular dystrophy-dystroglycanopathy congenital with mental retardation B6 (MDDGB6; MIM:608840) is associated with profound mental retardation, white matter changes and structural brain abnormalities (Longman et al. 2003). Several mutations are known (MIM:603590) and include W495R and S331F (Clement et al. 2008, Mercuri et al. 2009).", "cellular_location": "Golgi membrane, cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95461-1", "O43505-1" ], "evidence": [ { "id": "R-HSA-6785668", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785668" } ] }, { "id": "R-HSA-9638090", "name": "B4GAT1:LARGE transfers Xyl from UDP-Xyl to GlcA-Xyl-GlcA", "equation": "", "summary": "Glycosyltransferase-like protein LARGE (MIM:603590) is a bifunctional glycosyltransferase with both xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the biosynthesis of a phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a structure present in alpha-dystroglycan (DAG1) which plays a key role in skeletal muscle function and regeneration (Inamori et al. 2012, Inamori et al. 2013, Wells 2013). LARGE belongs to the CAZy glycosyltransferase families GT8 and GT49.", "cellular_location": "Golgi lumen, Golgi membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95461-1", "O43505-1" ], "evidence": [ { "id": "R-HSA-9638090", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9638090" } ] }, { "id": "R-HSA-9638097", "name": "B4GAT1:LARGE transfers GlcA from UDP-GlcA to Xyl-GlcA", "equation": "", "summary": "Glycosyltransferase-like protein LARGE is a bifunctional glycosyltransferases with both xylosyltransferase and beta-1,3-glucuronyltransferase activities which can form polymeric Xyl-GlcA repeats. LARGE is involved in the physiological function of alpha-dystroglycan (DAG1) which plays a key role in skeletal muscle function and regeneration (Inamori et al. 2013, Wells 2013, Inamori et al. 2014).", "cellular_location": "Golgi lumen, Golgi membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95461-1", "O43505-1" ], "evidence": [ { "id": "R-HSA-9638097", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9638097" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-8932257", "participant_name": "Xyl-GlcA-Xyl-GlcA [Golgi lumen]", "crossref": [ { "id": "133015", "database": "ChEBI", "url": "" }, { "id": "000535386009", "database": "ZINC", "url": "" }, { "id": "000535386009", "database": "ZINC", "url": "" }, { "id": "133015", "database": "ChEBI", "url": "" }, { "id": "000535386009", "database": "ZINC", "url": "" }, { "id": "133015", "database": "ChEBI", "url": "" }, { "id": "133015", "database": "ChEBI", "url": "" }, { "id": "000535386009", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-ALL-8932519", "participant_name": "GlcA-Xyl-GlcA [Golgi lumen]", "crossref": [ { "id": "91125", "database": "ChEBI", "url": "" }, { "id": "000535384526", "database": "ZINC", "url": "" }, { "id": "91125", "database": "ChEBI", "url": "" }, { "id": "000535384526", "database": "ZINC", "url": "" }, { "id": "91125", "database": "ChEBI", "url": "" }, { "id": "000535384526", "database": "ZINC", "url": "" }, { "id": "91125", "database": "ChEBI", "url": "" }, { "id": "000535384526", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-ALL-8932520", "participant_name": "Xyl-GlcA [Golgi lumen]", "crossref": [ { "id": "000535384525", "database": "ZINC", "url": "" }, { "id": "91124", "database": "ChEBI", "url": "" }, { "id": "91124", "database": "ChEBI", "url": "" }, { "id": "000535384525", "database": "ZINC", "url": "" }, { "id": "91124", "database": "ChEBI", "url": "" }, { "id": "000535384525", "database": "ZINC", "url": "" }, { "id": "91124", "database": "ChEBI", "url": "" }, { "id": "000535384525", "database": "ZINC", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O43505", "gene_name": "B4GAT1", "activity": [ { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "O43505", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43505" } ] } ] }, { "uniprot_ac": "O95461", "gene_name": "LARGE1", "activity": [ { "ec_number": "2.4.-.-", "activity": "", "evidence": [ { "id": "O95461", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95461" } ] }, { "ec_number": "2.4.2.-", "activity": "", "evidence": [ { "id": "O95461", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95461" } ] }, { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "O95461", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95461" } ] } ] }, { "uniprot_ac": "Q8BWP8", "gene_name": "B4gat1", "activity": [ { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "Q8BWP8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BWP8" } ] } ] }, { "uniprot_ac": "Q8N3Y3", "gene_name": "LARGE2", "activity": [ { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "Q8N3Y3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N3Y3" } ] }, { "ec_number": "2.4.-.-", "activity": "", "evidence": [ { "id": "Q8N3Y3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N3Y3" } ] }, { "ec_number": "2.4.2.-", "activity": "", "evidence": [ { "id": "Q8N3Y3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N3Y3" } ] } ] }, { "uniprot_ac": "Q8NFL0", "gene_name": "B3GNT7", "activity": [ { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "Q8NFL0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NFL0" } ] } ] }, { "uniprot_ac": "Q9C0J1", "gene_name": "B3GNT4", "activity": [ { "ec_number": "2.4.1.149", "activity": "a beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + UDP-N-acetyl-alpha-D-glucosamine = an N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + H(+) + UDP.", "evidence": [ { "id": "Q9C0J1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9C0J1" } ] }, { "ec_number": "2.4.1.149", "activity": "", "evidence": [ { "id": "Q9C0J1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9C0J1" } ] } ] }, { "uniprot_ac": "Q9NY97", "gene_name": "B3GNT2", "activity": [ { "ec_number": "2.4.1.149", "activity": "a beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + UDP-N-acetyl-alpha-D-glucosamine = an N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + H(+) + UDP.", "evidence": [ { "id": "Q9NY97", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NY97" } ] }, { "ec_number": "2.4.1.149", "activity": "", "evidence": [ { "id": 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UDP.", "evidence": [ { "id": "Q9Y2A9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2A9" } ] }, { "ec_number": "2.4.1.149", "activity": "", "evidence": [ { "id": "Q9Y2A9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2A9" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 204, 300 ], "o_linked_sites": [], "snv_sites": [ 74, 204, 302, 369 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 204, "end_pos": 206 }, { "start_pos": 300, "end_pos": 302 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", 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