{ "uniprot_canonical_ac": "O96024-1", "uniprot_ac": "O96024", "uniprot_id": "B3GT4_HUMAN", "mass": { "chemical_mass": 41537.0, "monoisotopic_mass": 41537.0 }, "refseq": { "ac": "NP_003773", "name": "beta-1,3-galactosyltransferase 4 precursor", "summary": "This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is oriented telomere to centromere in close proximity to the ribosomal protein S18 gene. The functionality of the encoded protein is limited to ganglioseries glycolipid biosynthesis. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003773" }, "gene_names": [ { "name": "B3GALT4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O96024", "id": "O96024" }, { "name": "B3GALT4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003773", "id": "NP_003773" }, { "name": "BETA3GALT4; GALT2; GALT4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003773", "id": "NP_003773" }, { "name": "GALT4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O96024", "id": "O96024" } ], "protein_names": [ { "name": "Beta-1,3-galactosyltransferase 4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O96024" }, { "name": "2.4.1.62", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96024" }, { "name": "Beta-1,3-GalTase 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96024" }, { "name": "Beta3Gal-T4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96024" }, { "name": "Beta3GalT4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96024" }, { "name": "Gal-T2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96024" }, { "name": "GalT4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96024" }, { "name": "Ganglioside galactosyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96024" }, { "name": "UDP-galactose:beta-N-acetyl-galactosamine-beta-1,3-galactosyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96024" }, { "name": "b3Gal-T4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96024" }, { "name": "beta-1,3-galactosyltransferase 4 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003773", "id": "NP_003773" }, { "name": "beta-3-galactosyltransferase 4; gal-T2; b3Gal-T4; beta-1,3-GalTase 4; ganglioside galactosyltransferase; UDP-galactose:beta-N-acetyl-galactosamine-beta-1, 3-galactosyltransferase; UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4; UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003773", "id": "NP_003773" } ], "function": [ { "annotation": "B3GALT4 knockdown decreases GM1 ganglioside level and enhances vulnerability for neurodegeneration.", "evidence": [ { "database": "RefSeq", "id": "NP_003773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003773" }, { "database": "PubMed", "id": "30611881", "url": "https://glygen.org/publication/PubMed/30611881" } ] }, { "annotation": "Colorectal cancer (CRC) patients expressing both high B7-H3 and high B3GALT4 contributed to a significant decrease in overall survival. The expression of B3GALT4 in CRC is positively correlated with B7-H3 expression in vitro. B7-H3/B3GLAT4 may be used as dual prognostic biomarkers for CRC.", "evidence": [ { "database": "RefSeq", "id": "NP_003773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003773" }, { "database": "PubMed", "id": "30131660", "url": "https://glygen.org/publication/PubMed/30131660" } ] }, { "annotation": "Data showed that GM1/GD1b/GA1 synthase transfectant cells had definite reduction in cell growth and invasion.", "evidence": [ { "database": "RefSeq", "id": "NP_003773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003773" }, { "database": "PubMed", "id": "20594196", "url": "https://glygen.org/publication/PubMed/20594196" } ] }, { "annotation": "In patients with late-onset Alzheimer disease, a number of differentially methylated postitions were hypomethylated in B3GALT4 compared with controls.", "evidence": [ { "database": "RefSeq", "id": "NP_003773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003773" }, { "database": "PubMed", "id": "30372681", "url": "https://glygen.org/publication/PubMed/30372681" } ] }, { "annotation": "Induction of GM1a/GD1b synthase triggers complex ganglioside expression and alters neuroblastoma cell behavior; a new tumor cell model of ganglioside function", "evidence": [ { "database": "RefSeq", "id": "NP_003773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003773" }, { "database": "PubMed", "id": "21519903", "url": "https://glygen.org/publication/PubMed/21519903" } ] }, { "annotation": "Involved in GM1/GD1B/GA1 ganglioside biosynthesis.", "evidence": [ { "database": "UniProtKB", "id": "O96024", "url": "https://www.uniprot.org/uniprot/O96024#function" }, { "database": "PubMed", "id": "9582303", "url": "https://glygen.org/publication/PubMed/9582303" } ] }, { "annotation": "This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is oriented telomere to centromere in close proximity to the ribosomal protein S18 gene. The functionality of the encoded protein is limited to ganglioseries glycolipid biosynthesis. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003773" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs182005604", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs182005604" }, { "id": "rs182005604", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs182005604" }, { "id": "rs182005604", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs182005604#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 161, "end_pos": 161, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NWA->NWS).", "chr_id": "6", "chr_pos": "33277900", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A161", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1317377839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1317377839" }, { "id": "rs1317377839", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1317377839" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 85, "end_pos": 85, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLN->NLS).", "chr_id": "6", "chr_pos": "33277673", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N85", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1023701653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1023701653" }, { "id": "rs1023701653", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1023701653#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 87, "end_pos": 87, "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQR->NQT).", "chr_id": "6", "chr_pos": "33277679", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R87", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "71.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000235863", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000235863" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "78.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000235863", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000235863" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "78.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000235863", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000235863" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "80.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000235863", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000235863" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "81.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000235863", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000235863" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "78.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000235863", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000235863" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "72.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000235863", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000235863" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "79.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000235863", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000235863" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "77.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000235863", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000235863" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "67.93", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000235863", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000235863" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "65.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000235863", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000235863" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "82.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000235863", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000235863" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "78.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000235863", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000235863" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O96024", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O96024" } ], "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 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"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", 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"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 - 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"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", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", 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"name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O96024", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O96024" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O96024" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O96024", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O96024" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O96024", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O96024" } ], "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": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O96024", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O96024" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O96024", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O96024" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O96024", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O96024" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O96024", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O96024" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is 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Pathway" ] }, { "id": "48280", "url": "https://www.rhea-db.org/rhea/48280", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "O96024", "url": "https://www.uniprot.org/uniprot/O96024", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O96024-1", "url": "https://www.uniprot.org/uniprot/O96024-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MQLRLFRRLLLAALLLVIVWTLFGPSGLGEELLSLSLASLLPAPASPGPPLALPRLLIPNQEACSGPGAPPFLLILVCTAPENLNQRNAIRASWGGLREARGLRVQTLFLLGEPNAQHPVWGSQGSDLASESAAQGDILQAAFQDSYRNLTLKTLSGLNWAEKHCPMARYVLKTDDDVYVNVPELVSELVLRGGRWGQWERSTEPQREAEQEGGQVLHSEEVPLLYLGRVHWRVNPSRTPGGRHRVSEEQWPHTWGPFPPYASGTGYVLSASAVQLILKVASRAPLLPLEDVFVGVSARRGGLAPTQCVKLAGATHYPLDRCCYGKFLLTSHRLDPWKMQEAWKLVGGSDGERTAPFCSWFQGVLGILRCRAIAWLQS", "length": 378, "header": "sp|O96024-1|B3GT4_HUMAN Isoform 1 of Beta-1,3-galactosyltransferase 4 OS=Homo sapiens OX=9606 GN=B3GALT4 PE=1 SV=1 CANONICAL=O96024-1" }, "isoforms": [ { "isoform_ac": "O96024-1", "url": "", "sequence": { "sequence": "MQLRLFRRLLLAALLLVIVWTLFGPSGLGEELLSLSLASLLPAPASPGPPLALPRLLIPNQEACSGPGAPPFLLILVCTAPENLNQRNAIRASWGGLREARGLRVQTLFLLGEPNAQHPVWGSQGSDLASESAAQGDILQAAFQDSYRNLTLKTLSGLNWAEKHCPMARYVLKTDDDVYVNVPELVSELVLRGGRWGQWERSTEPQREAEQEGGQVLHSEEVPLLYLGRVHWRVNPSRTPGGRHRVSEEQWPHTWGPFPPYASGTGYVLSASAVQLILKVASRAPLLPLEDVFVGVSARRGGLAPTQCVKLAGATHYPLDRCCYGKFLLTSHRLDPWKMQEAWKLVGGSDGERTAPFCSWFQGVLGILRCRAIAWLQS", "length": 378, "header": "sp|O96024-1|B3GT4_HUMAN Isoform 1 of Beta-1,3-galactosyltransferase 4 OS=Homo sapiens OX=9606 GN=B3GALT4 PE=1 SV=1 CANONICAL=O96024-1" }, "locus": { "chromosome": "HSCHR6_MHC_COX_CTG1", "start_pos": 4690034, "end_pos": 4688901, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000415322.4", "url": "https://www.ensembl.org/id/ENST00000415322.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000394876.3", "url": "https://www.ensembl.org/id/ENSP00000394876.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 149, "start_aa": "Asn", "end_pos": 149, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn149", "evidence": [ { "id": "O96024", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96024#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycosyltransferase-activity", "glycoprotein", "glycoprotein_predicted" ], "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-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "10206952", "url": "https://glygen.org/publication/PubMed/10206952" } ] }, { "title": "Cloning, expression, and characterization of a novel UDP-galactose:beta-N-acetylglucosamine beta1,3-galactosyltransferase (beta3Gal-T5) responsible for synthesis of type 1 chain in colorectal and pancreatic epithelia and tumor cells derived therefrom.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Isshiki S, Togayachi A, Kudo T, Nishihara S, Watanabe M, Kubota T, Kitajima M, Shiraishi N, Sasaki K, Andoh T, Narimatsu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "10212226", "url": "https://glygen.org/publication/PubMed/10212226" } ] }, { "title": "A novel glycosyltransferase with a polyglutamine repeat; a new candidate for GD1alpha synthase (ST6GalNAc V)(1).", "journal": "FEBS letters", "date": "1999", "authors": "Ikehara Y, Shimizu N, Kono M, Nishihara S, Nakanishi H, Kitamura T, Narimatsu H, Tsuji S, Tatematsu M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "10601645", "url": "https://glygen.org/publication/PubMed/10601645" } ] }, { "title": "The beta 1,3-galactosyltransferase-4 (b3Gal-T4) gene is located in the centromeric segment of the human MHC class II region.", "journal": "Immunogenetics", "date": "2000", "authors": "Shiina T, Kikkawa E, Iwasaki H, Kaneko M, Narimatsu H, Sasaki K, Bahram S, Inoko H", "evidence": [ { "database": "UniProtKB", "id": "O96024", "url": "https://www.uniprot.org/uniprot/O96024" } ], "reference": [ { "type": "PubMed", "id": "10663566", "url": "https://glygen.org/publication/PubMed/10663566" } ] }, { "title": "Molecular cloning of globotriaosylceramide/CD77 synthase, a glycosyltransferase that initiates the synthesis of globo series glycosphingolipids.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Kojima Y, Fukumoto S, Furukawa K, Okajima T, Wiels J, Yokoyama K, Suzuki Y, Urano T, Ohta M, Furukawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "10748143", "url": "https://glygen.org/publication/PubMed/10748143" } ] }, { "title": "Expression cloning of human globoside synthase cDNAs. Identification of beta 3Gal-T3 as UDP-N-acetylgalactosamine:globotriaosylceramide beta 1,3-N-acetylgalactosaminyltransferase.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Okajima T, Nakamura Y, Uchikawa M, Haslam DB, Numata SI, Furukawa K, Urano T, Furukawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "10993897", "url": "https://glygen.org/publication/PubMed/10993897" } ] }, { "title": "Disulfide bonds of GM2 synthase homodimers. Antiparallel orientation of the catalytic domains.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Li J, Yen TY, Allende ML, Joshi RK, Cai J, Pierce WM, Jaskiewicz E, Darling DS, Macher BA, Young WW Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "11018043", "url": "https://glygen.org/publication/PubMed/11018043" } ] }, { "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-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "11283017", "url": "https://glygen.org/publication/PubMed/11283017" } ] }, { "title": "Ceramide kinase, a novel lipid kinase. Molecular cloning and functional characterization.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Sugiura M, Kono K, Liu H, Shimizugawa T, Minekura H, Spiegel S, Kohama T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "11956206", "url": "https://glygen.org/publication/PubMed/11956206" } ] }, { "title": "Fuc-TIX: a versatile alpha1,3-fucosyltransferase with a distinct acceptor- and site-specificity profile.", "journal": "Glycobiology", "date": "2002", "authors": "Toivonen S, Nishihara S, Narimatsu H, Renkonen O, Renkonen R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "12107078", "url": "https://glygen.org/publication/PubMed/12107078" } ] }, { "title": "The galactosyltransferase family.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2002", "authors": "Hennet T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "12222957", "url": "https://glygen.org/publication/PubMed/12222957" } ] }, { "title": "Synthesis of disialyl Lewis a (Le(a)) structure in colon cancer cell lines by a sialyltransferase, ST6GalNAc VI, responsible for the synthesis of alpha-series gangliosides.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Tsuchida A, Okajima T, Furukawa K, Ando T, Ishida H, Yoshida A, Nakamura Y, Kannagi R, Kiso M, Furukawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "12668675", "url": "https://glygen.org/publication/PubMed/12668675" } ] }, { "title": "Molecular cloning, gene organization and expression of the human UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase responsible for the biosynthesis of the blood group Sda/Cad antigen: evidence for an unusual extended cytoplasmic domain.", "journal": "The Biochemical journal", "date": "2003", "authors": "Montiel MD, Krzewinski-Recchi MA, Delannoy P, Harduin-Lepers A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "12678917", "url": "https://glygen.org/publication/PubMed/12678917" } ] }, { "title": "Cloning and sequencing of nineteen transcript isoforms of the human alpha2,3-sialyltransferase gene, ST3Gal III; its genomic organisation and expression in human tissues.", "journal": "Glycoconjugate journal", "date": "2002", "authors": "Grahn A, Barkhordar GS, Larson G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "12815231", "url": "https://glygen.org/publication/PubMed/12815231" } ] }, { "title": "The blood group P1 synthase gene is identical to the Gb3/CD77 synthase gene. A clue to the solution of the P1/P2/p puzzle.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Iwamura K, Furukawa K, Uchikawa M, Sojka BN, Kojima Y, Wiels J, Shiku H, Urano T, Furukawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "12888565", "url": "https://glygen.org/publication/PubMed/12888565" } ] }, { "title": "Molecular cloning of the human beta1,4 N-acetylgalactosaminyltransferase responsible for the biosynthesis of the Sd(a) histo-blood group antigen: the sequence predicts a very long cytoplasmic domain.", "journal": "Journal of biochemistry", "date": "2003", "authors": "Lo Presti L, Cabuy E, Chiricolo M, Dall'Olio F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "14688233", "url": "https://glygen.org/publication/PubMed/14688233" } ] }, { "title": "The discovery, biology, and drug development of sialyl Lea and sialyl Lex.", "journal": "Archives of biochemistry and biophysics", "date": "2004", "authors": "Magnani JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "15158662", "url": "https://glygen.org/publication/PubMed/15158662" } ] }, { "title": "The cloning and expression of a human alpha-1,3 fucosyltransferase capable of forming the E-selectin ligand.", "journal": "Biochemical and biophysical research communications", "date": "1992", "authors": "Koszdin KL, Bowen BR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "1520296", "url": "https://glygen.org/publication/PubMed/1520296" } ] }, { "title": "Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Nagata Y, Yamashiro S, Yodoi J, Lloyd KO, Shiku H, Furukawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "1601877", "url": "https://glygen.org/publication/PubMed/1601877" } ] }, { "title": "Human GM3 synthase: a new mRNA variant encodes an NH2-terminal extended form of the protein.", "journal": "Biochimica et biophysica acta", "date": "2006", "authors": "Berselli P, Zava S, Sottocornola E, Milani S, Berra B, Colombo I", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "16934889", "url": "https://glygen.org/publication/PubMed/16934889" } ] }, { "title": "ELFT: a gene that directs the expression of an ELAM-1 ligand.", "journal": "Cell", "date": "1990", "authors": "Goelz SE, Hession C, Goff D, Griffiths B, Tizard R, Newman B, Chi-Rosso G, Lobb R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "1702034", "url": "https://glygen.org/publication/PubMed/1702034" } ] }, { "title": "Identification and expression of a sialyltransferase responsible for the synthesis of disialylgalactosylgloboside in normal and malignant kidney cells: downregulation of ST6GalNAc VI in renal cancers.", "journal": "The Biochemical journal", "date": "2007", "authors": "Senda M, Ito A, Tsuchida A, Hagiwara T, Kaneda T, Nakamura Y, Kasama K, Kiso M, Yoshikawa K, Katagiri Y, Ono Y, Ogiso M, Urano T, Furukawa K, Oshima S, Furukawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "17123352", "url": "https://glygen.org/publication/PubMed/17123352" } ] }, { "title": "Molecular cloning of a human fucosyltransferase gene that determines expression of the Lewis x and VIM-2 epitopes but not ELAM-1-dependent cell adhesion.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Lowe JB, Kukowska-Latallo JF, Nair RP, Larsen RD, Marks RM, Macher BA, Kelly RJ, Ernst LK", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "1716630", "url": "https://glygen.org/publication/PubMed/1716630" } ] }, { "title": "Isolation of a novel human alpha (1,3)fucosyltransferase gene and molecular comparison to the human Lewis blood group alpha (1,3/1,4)fucosyltransferase gene. Syntenic, homologous, nonallelic genes encoding enzymes with distinct acceptor substrate specificities.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Weston BW, Nair RP, Larsen RD, Lowe JB", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "1740457", "url": "https://glygen.org/publication/PubMed/1740457" } ] }, { "title": "Activity, splice variants, conserved peptide motifs, and phylogeny of two new alpha1,3-fucosyltransferase families (FUT10 and FUT11).", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Mollicone R, Moore SE, Bovin N, Garcia-Rosasco M, Candelier JJ, Martinez-Duncker I, Oriol R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "19088067", "url": "https://glygen.org/publication/PubMed/19088067" } ] }, { "title": "A cloned human cDNA determines expression of a mouse stage-specific embryonic antigen and the Lewis blood group alpha(1,3/1,4)fucosyltransferase.", "journal": "Genes & development", "date": "1990", "authors": "Kukowska-Latallo JF, Larsen RD, Nair RP, Lowe JB", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "1977660", "url": "https://glygen.org/publication/PubMed/1977660" } ] }, { "title": "Lack of lacto/neolacto-glycolipids enhances the formation of glycolipid-enriched microdomains, facilitating B cell activation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Togayachi A, Kozono Y, Ikehara Y, Ito H, Suzuki N, Tsunoda Y, Abe S, Sato T, Nakamura K, Suzuki M, Goda HM, Ito M, Kudo T, Takahashi S, Narimatsu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "20547865", "url": "https://glygen.org/publication/PubMed/20547865" } ] }, { "title": "GM1 / GD1b / GA1 synthase expression results in the reduced cancer phenotypes with modulation of composition and raft-localization of gangliosides in a melanoma cell line.", "journal": "Cancer science", "date": "2010", "authors": "Dong Y, Ikeda K, Hamamura K, Zhang Q, Kondo Y, Matsumoto Y, Ohmi Y, Yamauchi Y, Furukawa K, Taguchi R, Furukawa K", "evidence": [ { "database": "RefSeq", "id": "NP_003773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003773" } ], "reference": [ { "type": "PubMed", "id": "20594196", "url": "https://glygen.org/publication/PubMed/20594196" } ] }, { "title": "Molecular cloning, sequence, and expression of a human GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase cDNA that can form the H blood group antigen.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1990", "authors": "Larsen RD, Ernst LK, Nair RP, Lowe JB", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "2118655", "url": "https://glygen.org/publication/PubMed/2118655" } ] }, { "title": "Induction of GM1a/GD1b synthase triggers complex ganglioside expression and alters neuroblastoma cell behavior; a new tumor cell model of ganglioside function.", "journal": "Glycoconjugate journal", "date": "2011", "authors": "Dong L, Liu Y, Colberg-Poley AM, Kaucic K, Ladisch S", "evidence": [ { "database": "RefSeq", "id": "NP_003773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003773" } ], "reference": [ { "type": "PubMed", "id": "21519903", "url": "https://glygen.org/publication/PubMed/21519903" } ] }, { "title": "Biosynthesis of the major brain gangliosides GD1a and GT1b.", "journal": "Glycobiology", "date": "2012-10", "authors": "Sturgill Elizabeth R, Aoki Kazuhiro, Lopez Pablo H H, Colacurcio Daniel, Vajn Katarina, Lorenzini Ileana, Maji\u0107 Senka, Yang Won Ho, Heffer Marija, Tiemeyer Michael, Marth Jamey D, Schnaar Ronald L", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "22735313", "url": "https://glygen.org/publication/PubMed/22735313" } ] }, { "title": "Ceramide glycosylation catalyzed by glucosylceramide synthase and cancer drug resistance.", "journal": "Advances in cancer research", "date": "2013", "authors": "Liu YY, Hill RA, Li YT", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "23290777", "url": "https://glygen.org/publication/PubMed/23290777" } ] }, { "title": "Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.", "journal": "American journal of human genetics", "date": "2013", "authors": "Boukhris A, Schule R, Loureiro JL, Lourenco CM, Mundwiller E, Gonzalez MA, Charles P, Gauthier J, Rekik I, Acosta Lebrigio RF, Gaussen M, Speziani F, Ferbert A, Feki I, Caballero-Oteyza A, Dionne-Laporte A, Amri M, Noreau A, Forlani S, Cruz VT, Mochel F, Coutinho P, Dion P, Mhiri C, Schols L, Pouget J, Darios F, Rouleau GA, Marques W Jr, Brice A, Durr A, Zuchner S, Stevanin G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "23746551", "url": "https://glygen.org/publication/PubMed/23746551" } ] }, { "title": "\u03b24GalT6 is involved in the synthesis of lactosylceramide with less intensity than \u03b24GalT5.", "journal": "Glycobiology", "date": "2013-10", "authors": "Tokuda Noriyo, Numata Shinichiro, Li Xiaojin, Nomura Tomoko, Takizawa Minoru, Kondo Yuji, Yamashita Yoriko, Hashimoto Noboru, Kiyono Tohru, Urano Takeshi, Furukawa Keiko, Furukawa Koichi", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "23882130", "url": "https://glygen.org/publication/PubMed/23882130" } ] }, { "title": "Establishment of HeLa cell mutants deficient in sphingolipid-related genes using TALENs.", "journal": "PloS one", "date": "2014", "authors": "Yamaji T, Hanada K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "24498430", "url": "https://glygen.org/publication/PubMed/24498430" } ] }, { "title": "B4GALNT2 gene expression controls the biosynthesis of Sda and sialyl Lewis X antigens in healthy and cancer human gastrointestinal tract.", "journal": "The international journal of biochemistry & cell biology", "date": "2014", "authors": "Groux-Degroote S, Wavelet C, Krzewinski-Recchi MA, Portier L, Mortuaire M, Mihalache A, Trinchera M, Delannoy P, Malagolini N, Chiricolo M, Dall'Olio F, Harduin-Lepers A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "24953560", "url": "https://glygen.org/publication/PubMed/24953560" } ] }, { "title": "Emerging concepts of ganglioside metabolism.", "journal": "FEBS letters", "date": "2018-12", "authors": "Sandhoff Roger, Sandhoff Konrad", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "29802621", "url": "https://glygen.org/publication/PubMed/29802621" } ] }, { "title": "Clinical correlation of B7-H3 and B3GALT4 with the prognosis of colorectal 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alpha(1,2)fucosyltransferase gene (FUT2). Homozygosity for an enzyme-inactivating nonsense mutation commonly correlates with the non-secretor phenotype.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Kelly RJ, Rouquier S, Giorgi D, Lennon GG, Lowe JB", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "7876235", "url": "https://glygen.org/publication/PubMed/7876235" } ] }, { "title": "Substrate specificity of beta 1,4-N-acetylgalactosaminyltransferase in vitro and in cDNA-transfected cells. GM2/GD2 synthase efficiently generates asialo-GM2 in certain cells.", "journal": "The Journal of biological chemistry", "date": "1995-03-17", "authors": "Yamashiro S, Haraguchi M, Furukawa K, Takamiya K, Yamamoto A, Nagata Y, Lloyd K O, Shiku H, Furukawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "7890749", "url": "https://glygen.org/publication/PubMed/7890749" } ] }, { "title": "Molecular cloning of a cDNA encoding a novel human leukocyte alpha-1,3-fucosyltransferase capable of synthesizing the sialyl Lewis x determinant.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Natsuka S, Gersten KM, Zenita K, Kannagi R, Lowe JB", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "8207002", "url": "https://glygen.org/publication/PubMed/8207002" } ] }, { "title": "Alpha (1,3/1,4)fucosyltransferase (FucT-III) gene is inactivated by a single amino acid substitution in Lewis histo-blood type negative individuals.", "journal": "Biochemical and biophysical research communications", "date": "1993", "authors": "Nishihara S, Yazawa S, Iwasaki H, Nakazato M, Kudo T, Ando T, Narimatsu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "8240337", "url": "https://glygen.org/publication/PubMed/8240337" } ] }, { "title": "Cloning of a novel alpha 2,3-sialyltransferase that sialylates glycoprotein and glycolipid carbohydrate groups.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Kitagawa H, Paulson JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "8288606", "url": "https://glygen.org/publication/PubMed/8288606" } ] }, { "title": "Cloning and expression of human Gal beta 1,3(4)GlcNAc alpha 2,3-sialyltransferase.", "journal": "Biochemical and biophysical research communications", "date": "1993", "authors": "Kitagawa H, Paulson JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "8333853", "url": "https://glygen.org/publication/PubMed/8333853" } ] }, { "title": "Expression cloning of a cDNA for human ceramide glucosyltransferase that catalyzes the first glycosylation step of glycosphingolipid synthesis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Ichikawa S, Sakiyama H, Suzuki G, Hidari KI, Hirabayashi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "8643456", "url": "https://glygen.org/publication/PubMed/8643456" } ] }, { "title": "Purification and characterization of 3'-phosphoadenosine-5'-phosphosulfate:GalCer sulfotransferase from human renal cancer cells.", "journal": "Journal of biochemistry", "date": "1996-03", "authors": "Honke K, Yamane M, Ishii A, Kobayashi T, Makita A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "8830034", "url": "https://glygen.org/publication/PubMed/8830034" } ] }, { "title": "Molecular cloning and expression of a fifth type of alpha2,8-sialyltransferase (ST8Sia V). Its substrate specificity is similar to that of SAT-V/III, which synthesize GD1c, GT1a, GQ1b and GT3.", "journal": "The Journal of biological chemistry", "date": "1996-11-15", "authors": "Kono M, Yoshida Y, Kojima N, Tsuji S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "8910600", "url": "https://glygen.org/publication/PubMed/8910600" } ] }, { "title": "Molecular cloning and expression of human Gal beta 1,3GalNAc alpha 2,3-sialytransferase (hST3Gal II).", "journal": "Biochemical and biophysical research communications", "date": "1996", "authors": "Kim YJ, Kim KS, Kim SH, Kim CH, Ko JH, Choe IS, Tsuji S, Lee YC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "8920913", "url": "https://glygen.org/publication/PubMed/8920913" } ] }, { "title": "Molecular cloning and expression of cDNA encoding human 3'-phosphoadenylylsulfate:galactosylceramide 3'-sulfotransferase.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Honke K, Tsuda M, Hirahara Y, Ishii A, Makita A, Wada Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "9030544", "url": "https://glygen.org/publication/PubMed/9030544" } ] }, { "title": "Cloning, characterization, and expression of human ceramide galactosyltransferase cDNA.", "journal": "Biochemical and biophysical research communications", "date": "1997", "authors": "Kapitonov D, Yu RK", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "9125199", "url": "https://glygen.org/publication/PubMed/9125199" } ] }, { "title": "Molecular cloning and expression of human alpha2,8-sialyltransferase (hST8Sia V).", "journal": "Biochemical and biophysical research communications", "date": "1997", "authors": "Kim YJ, Kim KS, Do S, Kim CH, Kim SK, Lee YC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "9199191", "url": "https://glygen.org/publication/PubMed/9199191" } ] }, { "title": "Structure and expression of the gene encoding secretor-type galactoside 2-alpha-L-fucosyltransferase (FUT2).", "journal": "European journal of biochemistry", "date": "1997", "authors": "Koda Y, Soejima M, Wang B, Kimura H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "9219535", "url": "https://glygen.org/publication/PubMed/9219535" } ] }, { "title": "A family of human beta3-galactosyltransferases. Characterization of four members of a UDP-galactose:beta-N-acetyl-glucosamine/beta-nacetyl-galactosamine beta-1,3-galactosyltransferase family.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Amado M, Almeida R, Carneiro F, Levery SB, Holmes EH, Nomoto M, Hollingsworth MA, Hassan H, Schwientek T, Nielsen PA, Bennett EP, Clausen H", "evidence": [ { "database": "UniProtKB", "id": "O96024", "url": "https://www.uniprot.org/uniprot/O96024" }, { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "9582303", "url": "https://glygen.org/publication/PubMed/9582303" } ] }, { "title": "Expression cloning and functional characterization of human cDNA for ganglioside GM3 synthase.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Ishii A, Ohta M, Watanabe Y, Matsuda K, Ishiyama K, Sakoe K, Nakamura M, Inokuchi J, Sanai Y, Saito M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "reference": [ { "type": "PubMed", "id": "9822625", "url": "https://glygen.org/publication/PubMed/9822625" } ] } ], "pathway": [ { "id": "hsa:8705", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8705", "resource": "KEGG Pathway" }, { "id": "R-HSA-9037629", "name": "Lewis blood group biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629", "resource": "Reactome", "description": "Lewis blood group biosynthesis" }, { "id": "R-HSA-9840309", "name": "Glycosphingolipid biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309", "resource": "Reactome", "description": "Glycosphingolipid biosynthesis" } ], "orthologs": [ { "uniprot_canonical_ac": "O88178-1", "protein_name": "Beta-1,3-galactosyltransferase 4", "gene_name": "B3galt4", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MPLSLFRRLLLAVLLLVIIWTLFGPSGLGEELLSLSLASLLPAPASPGPPLALPRLLIPNPQACGGSGPPPFLLILVCTAPEHLNQRNAIRGSWGAIREARGFRVQTLFLLGEPMGQQFADLASESAAQGDVLQASFQDSYRNLTLKTLTGLNWVNKYCPMARYILKTDDDVYVNVPELVSELIQRGGPSEQWQKGKEPQEETTAVHKEHKGQAVPLLYLGRVHWRVRPTRTPESRHHVSEELWPENWGPFPPYASGTGYVLSISAVQLILKVASRAPYLPLEDVFVGVSARRVGLAPTHCVKLAGATHYPLDRCCYGKFLLTSHKVDPWKMQEAWKLVRGLNGRRTEPFCSWLQGFLGTLRCRFIAWLNS", "length": 371 }, "evidence": [ { "id": "45927291", "url": "http://www.informatics.jax.org/homology/45927291", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9Z0F0-1", "protein_name": "Beta-1,3-galactosyltransferase 4", "gene_name": "B3galt4", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPLSLFRRVLLAVLLLVIIWTLFGPSGLGEELLSLSLASLLPAPASPGPPLALPRLLISNSHACGGSGPPPFLLILVCTAPEHLNQRNAIRASWGAIREARGFRVQTLFLLGKPRRQQLADLSSESAAHRDILQASFQDSYRNLTLKTLSGLNWVNKYCPMARYILKTDDDVYVNVPELVSELIQRGGPSEQWQKGKEAQEETTAIHEEHRGQAVPLLYLGRVHWRVRPTRTPESRHHVSEELWPENWGPFPPYASGTGYVLSISAVQLILKVASRAPPLPLEDVFVGVSARRGGLAPTHCVKLAGATHYPLDRCCYGKFLLTSHKVDPWQMQEAWKLVSGMNGERTAPFCSWLQGFLGTLRCRFIAWFSS", "length": 371 }, "evidence": [ { "id": "45927291", "url": "http://www.informatics.jax.org/homology/45927291", "database": "MGI" }, { "id": "O96024", "url": "https://omabrowser.org/oma/group/O96024/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "O96024", "url": "https://www.uniprot.org/uniprot/O96024" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O96024", "url": "https://www.uniprot.org/uniprot/O96024" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "protein O-linked glycosylation", "id": "GO:0006493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006493", "evidence": [ { "database": "UniProtKB", "id": "O96024", "url": "https://www.uniprot.org/uniprot/O96024" } ], "pmid": "" }, { "name": "oligosaccharide biosynthetic process", "id": "GO:0009312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009312", "evidence": [ { "database": "UniProtKB", "id": "O96024", "url": "https://www.uniprot.org/uniprot/O96024" } ], "pmid": "" }, { "name": "ganglioside biosynthetic process", "id": "GO:0001574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001574", "evidence": [ { "database": "UniProtKB", "id": "O96024", "url": "https://www.uniprot.org/uniprot/O96024" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity", "id": "GO:0008499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008499", "evidence": [ { "database": "UniProtKB", "id": "O96024", "url": "https://www.uniprot.org/uniprot/O96024" } ], "pmid": "" }, { "name": "ganglioside galactosyltransferase activity", "id": "GO:0047915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047915", "evidence": [ { "database": "UniProtKB", "id": "O96024", "url": "https://www.uniprot.org/uniprot/O96024" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 149, "end_pos": 151, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "16773", "name": "", "equation": "a ganglioside GM2 (d18:1(4E)) + UDP-alpha-D-galactose = a ganglioside GM1 (d18:1(4E)) + H(+) + UDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O88178-1", "O96024-1", "Q9Z0F0-1", "Q24157-1" ], "evidence": [ { "id": "16773", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/16773" } ] }, { "id": "41960", "name": "", "equation": "a ganglioside GA2 (d18:1(4E)) + UDP-alpha-D-galactose = a ganglioside GA1 (d18:1(4E)) + H(+) + UDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O88178-1", "O96024-1", "Q9Z0F0-1" ], "evidence": [ { "id": "41960", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/41960" } ] }, { "id": "47568", "name": "", "equation": "a ganglioside GD2 (d18:1(4E)) + UDP-alpha-D-galactose = a ganglioside GD1b (d18:1(4E)) + H(+) + UDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O88178-1", "O96024-1", "Q9Z0F0-1" ], "evidence": [ { "id": "47568", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/47568" } ] }, { "id": "48280", "name": "", "equation": "a ganglioside GM2 + UDP-alpha-D-galactose = a ganglioside GM1 + H(+) + UDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O88178-1", "O96024-1", "Q9Z0F0-1" ], "evidence": [ { "id": "48280", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/48280" } ] }, { "id": "R-HSA-9603989", "name": "B3GALTs transfer Gal to GlcNAc-1,3-Gal-R to form Type 1 chain", "equation": "", "summary": "The family of beta-1,3-galactosyltransferases (B3GALTs) transfer galactose (Gal) from UDP-alpha-D-galactose (UDP-Gal) to the \u03b21,3 position of substrates with a terminal beta-N-acetylglucosamine (\u03b2-GlcNAc) residue. B3GALTs are involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycoproteins. Here, five members of this family (B3GALT1-5) can mediate the transfer of Gal to GlcNAc-\u03b21,3-Gal-R, the precursor to blood group Type 1 oligosaccharide chains found in bodily secretions (Amado et al. 1998, Isshiki et al. 1999; review Hennet 2002).", "cellular_location": "Golgi lumen, Golgi membrane", "input_participant_list": [ "R-ALL-9604808" ], "output_participant_list": [], "enzyme_list": [ "O43825-1", "Q9Y2C3-1", "Q9Y5Z6-1", "O96024-1" ], "evidence": [ { "id": "R-HSA-9603989", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603989" } ] }, { "id": "R-HSA-9845516", "name": "B3GALT4 transfers Gal to gangliosides", "equation": "", "summary": "Beta-1,3-galactosyltransferase 4 (B3GALT4) transfers galactose (Gal) from UDP-alpha-D-galactose (UDP-Gal) to the \u03b21,3 position of the beta-N-acetylglucosamine (\u03b2-GlcNAc) residue on gangliosides GM2/GD2/GA2 to form gangliosides GM1/GD1b/GA1 (Amado et al., 1998; reviewed in Hennet, 2002).", "cellular_location": "Golgi lumen, Golgi membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O96024-1" ], "evidence": [ { "id": "R-HSA-9845516", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9845516" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-9604808", "participant_name": "GlcNAc-1,3-Gal-R [Golgi lumen]", "crossref": [ { "id": "140876", "database": "ChEBI", "url": "" }, { "id": "140876", "database": "ChEBI", "url": "" }, { "id": "140876", "database": "ChEBI", "url": "" }, { "id": "140876", "database": "ChEBI", "url": "" }, { "id": "140876", "database": "ChEBI", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O43825", "gene_name": "B3GALT2", "activity": [ { "ec_number": "2.4.1.86", "activity": "a beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + UDP-alpha-D-galactose = a beta-D-Gal-(1->3)-beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1')-Cer(d18:1(4E)) + H(+) + UDP.", "evidence": [ { "id": "O43825", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43825" } ] }, { "ec_number": "2.4.1.86", "activity": "", "evidence": [ { "id": "O43825", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43825" } ] } ] }, { "uniprot_ac": "O88178", "gene_name": "B3galt4", "activity": [ { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "O88178", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88178" } ] }, { "ec_number": "2.4.1.62", "activity": "a ganglioside GM2 (d18:1(4E)) + UDP-alpha-D-galactose = a ganglioside GM1 (d18:1(4E)) + H(+) + UDP.", "evidence": [ { "id": "O88178", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88178" } ] }, { "ec_number": "2.4.1.62", "activity": "", "evidence": [ { "id": "O88178", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88178" } ] } ] }, { "uniprot_ac": "O96024", "gene_name": "B3GALT4", "activity": [ { "ec_number": "2.4.1.62", "activity": "a ganglioside GM2 (d18:1(4E)) + UDP-alpha-D-galactose = a ganglioside GM1 (d18:1(4E)) + H(+) + UDP.", "evidence": [ { "id": "O96024", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96024" } ] }, { "ec_number": "2.4.1.62", "activity": "", "evidence": [ { "id": "O96024", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96024" } ] } ] }, { "uniprot_ac": "Q24157", "gene_name": "brn", "activity": [ { "ec_number": "2.4.1.62", "activity": "a ganglioside GM2 (d18:1(4E)) + UDP-alpha-D-galactose = a ganglioside GM1 (d18:1(4E)) + H(+) + UDP.", "evidence": [ { "id": "Q24157", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q24157" } ] }, { "ec_number": "2.4.1.62", "activity": "", "evidence": [ { "id": "Q24157", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q24157" } ] } ] }, { "uniprot_ac": "Q9Y2C3", "gene_name": "B3GALT5", "activity": [ { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "Q9Y2C3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2C3" } ] } ] }, { "uniprot_ac": "Q9Y5Z6", "gene_name": "B3GALT1", "activity": [ { "ec_number": "2.4.1.86", "activity": "a beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + UDP-alpha-D-galactose = a beta-D-Gal-(1->3)-beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1')-Cer(d18:1(4E)) + H(+) + UDP.", "evidence": [ { "id": "Q9Y5Z6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y5Z6" } ] }, { "ec_number": "2.4.1.86", "activity": "", "evidence": [ { "id": "Q9Y5Z6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y5Z6" } ] } ] }, { "uniprot_ac": "Q9Z0F0", "gene_name": "B3galt4", "activity": [ { "ec_number": "2.4.1.62", "activity": "a ganglioside GM2 (d18:1(4E)) + UDP-alpha-D-galactose = a ganglioside GM1 (d18:1(4E)) + H(+) + UDP.", "evidence": [ { "id": "Q9Z0F0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Z0F0" } ] }, { "ec_number": "2.4.1.62", "activity": "", "evidence": [ { "id": "Q9Z0F0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Z0F0" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [ { "glytoucan_ac": "G00371DJ", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G00569WM", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G01097FM", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G01784XC", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G01801SZ", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G01922RI", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G02032MW", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G02379AH", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G02562EQ", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G03542TR", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G03644PT", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G03770XP", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G03877AD", "type": "O-linked", "subtype": "Core 6" }, { "glytoucan_ac": "G03975EI", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G04088QJ", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G04406VW", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G04512BK", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G04548YV", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G04984PI", "type": "O-linked", "subtype": "Core 6" }, { "glytoucan_ac": "G05107KY", "type": "O-linked", "subtype": "Core 6" }, { "glytoucan_ac": "G05378UG", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G05767GS", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G05784LD", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G05801MA", "type": "Other", "subtype": "Other" }, { "glytoucan_ac": "G06676BQ", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G08115PN", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G08190JB", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G08425VQ", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G08892TX", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G08941LG", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G09424UT", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G09698FP", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G09941BM", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G10174LI", "type": "O-linked", "subtype": "Core 6" }, { "glytoucan_ac": "G10453CW", "type": "O-linked", "subtype": "Core 6" }, { "glytoucan_ac": "G10480CH", "type": "O-linked", "subtype": "Core 6" }, { "glytoucan_ac": "G10924UK", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G11260US", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G11288UE", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G11647UD", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G12000YX", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G12428MZ", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G12493UH", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G12962XA", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G13122AV", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G13168IS", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G13483MW", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G13824WQ", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G14014EQ", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G14191ZT", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G14380OJ", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G14555ST", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G14645TH", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G14646AF", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G14815WH", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G14870EV", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G15393WU", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G15642UW", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G16344NR", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G16527XF", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G17765UK", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G17827ZK", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G18201QM", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G18423OV", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G18463FK", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G18707MU", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G18878PL", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G18932FF", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G19212IL", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G19382GM", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G19393PU", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G19749DC", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G19957ZD", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G20176YB", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G20308RQ", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G20359JA", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G20438JB", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G21029LJ", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G21675EO", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G22174MI", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G22233KL", "type": "Other", "subtype": "Other" }, { "glytoucan_ac": "G22385OT", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G23334BB", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G24030QV", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G24256XU", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G24283IO", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G25498HI", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G25955UH", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G27721RV", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G27911BB", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G28023AU", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G28337WM", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G28599FB", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G29524AT", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G30356CR", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G30524AR", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G30697FM", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G30976UY", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G31422IN", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G31776ML", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G31982GY", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G32556JI", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G33068BF", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G33418YX", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G33963JX", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G34863TS", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G34891MO", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G35805TC", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G36191EH", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G36404TW", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G36498HE", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G36669SS", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G36774NW", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G36777IJ", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G38189CI", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G38351JR", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G38421BP", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G38465NT", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G38542FY", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G38933BS", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G39098FX", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G39147LS", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G39174FJ", "type": "O-linked", "subtype": "Core 6" }, { "glytoucan_ac": "G39189IR", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G40026ZO", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G40193LX", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G40709XS", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G40799GH", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G42206TU", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G42239FO", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G42650PV", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G42667BL", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G42668PC", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G42818YG", "type": 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