{ "uniprot_canonical_ac": "O75752-1", "uniprot_ac": "O75752", "uniprot_id": "B3GL1_HUMAN", "mass": { "chemical_mass": 39512.0, "monoisotopic_mass": 39512.0 }, "refseq": { "ac": "NP_001033717", "name": "UDP-GalNAc:beta-1, 3-N-acetylgalactosaminyltransferase 1 isoform b", "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). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. [provided by RefSeq, Mar 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033717" }, "gene_names": [ { "name": "B3GALNT1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75752", "id": "O75752" }, { "name": "B3GALANT1; B3GALT3; beta3Gal-T3; galT3; Gb4Cer; GLCT3; GLOB; P1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033717", "id": "NP_001033717" }, { "name": "B3GALNT1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033717", "id": "NP_001033717" }, { "name": "B3GALT3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75752", "id": "O75752" }, { "name": "PRO1074", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75752", "id": "O75752" } ], "protein_names": [ { "name": "UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75752" }, { "name": "2.4.1.79", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75752" }, { "name": "Beta-1,3-GalNAc-T1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75752" }, { "name": "Beta-1,3-GalTase 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75752" }, { "name": "Beta-1,3-galactosyltransferase 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75752" }, { "name": "Beta-3-Gx-T3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75752" }, { "name": "Beta3Gal-T3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75752" }, { "name": "Beta3GalT3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75752" }, { "name": "Galactosylgalactosylglucosylceramide beta-D-acetyl-galactosaminyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75752" }, { "name": "Globoside synthase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75752" }, { "name": "UDP-GalNAc:beta-1, 3-N-acetylgalactosaminyltransferase 1 isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033717", "id": "NP_001033717" }, { "name": "UDP-N-acetylgalactosamine:globotriaosylceramide beta-1,3-N-acetylgalactosaminyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75752" }, { "name": "b3Gal-T3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75752" }, { "name": "globoside synthase; globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase; brainiac1; P blood group globoside; UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group); P antigen synthase; UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group); UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1; b3Gal-T3; beta-3-Gx-T3; beta-1,3-GalNAc-T1; beta-1,3-GalTase 3; beta-1,3-galactosyltransferase 3; galactosylgalactosylglucosylceramide beta-D-acetyl-galactosaminyltransferase; UDP-N-acetylgalactosamine:globotriaosylceramide beta-1,3-N-acetylgalactosaminyltransferase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033717", "id": "NP_001033717" } ], "function": [ { "annotation": "B1,3GalNAc-T1 uses different acceptors to form immunologically distinct glycosphingolipids.", "evidence": [ { "database": "RefSeq", "id": "NP_001033717", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033717" }, { "database": "PubMed", "id": "26055721", "url": "https://glygen.org/publication/PubMed/26055721" } ] }, { "annotation": "Multiple miscarriages in two sisters of Thai origin with the rare P(k) phenotype caused by a novel nonsense mutation at the B3GALNT1 locus.", "evidence": [ { "database": "RefSeq", "id": "NP_001033717", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033717" }, { "database": "PubMed", "id": "29873420", "url": "https://glygen.org/publication/PubMed/29873420" } ] }, { "annotation": "TINAGL1 and B3GALNT1 are possible candidates for drug compounds that inhibit their gene expression", "evidence": [ { "database": "RefSeq", "id": "NP_001033717", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033717" }, { "database": "PubMed", "id": "25521548", "url": "https://glygen.org/publication/PubMed/25521548" } ] }, { "annotation": "The N-acetylgalactose aminotransferase gene 539G>C mutation resulted in A2B phenotype generation, and individual serum contained the anti-A1 antibody. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001033717", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033717" }, { "database": "PubMed", "id": "24782133", "url": "https://glygen.org/publication/PubMed/24782133" } ] }, { "annotation": "The Pk phenotype is resulted from 433 C>T mutation in the B3GALNT1 gene.", "evidence": [ { "database": "RefSeq", "id": "NP_001033717", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033717" }, { "database": "PubMed", "id": "26037356", "url": "https://glygen.org/publication/PubMed/26037356" } ] }, { "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). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. [provided by RefSeq, Mar 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_001033717", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033717" } ] }, { "annotation": "Transfers N-acetylgalactosamine onto globotriaosylceramide (PubMed:10993897). Plays a critical role in preimplantation stage embryonic development (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O75752", "url": "https://www.uniprot.org/uniprot/O75752#function" }, { "database": "UniProtKB", "id": "Q920V1", "url": "https://www.uniprot.org/uniprot/Q920V1#function" }, { "database": "PubMed", "id": "10993897", "url": "https://glygen.org/publication/PubMed/10993897" } ] } ], "disease": [ { "disease_id": "MONDO:0044222", "recommended_name": { "id": "MONDO:0044222", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044222", "name": "obsolete blood group, p1pk system", "description": "" }, "synonyms": [ { "id": "MONDO:0044222", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044222", "name": "blood group, P1PK system, P(k) phenotype", "description": "" }, { "id": "MONDO:0044222", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044222", "name": "blood group, P1Pk system, P(2) phenotype", "description": "" }, { "id": "MONDO:0044222", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044222", "name": "blood group, P1Pk system, p phenotype", "description": "" }, { "id": "MONDO:0044222", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044222", "name": "Nor Polyagglutination syndrome", "description": "" }, { "id": "MONDO:0044222", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044222", "name": "P phenotype", "description": "" }, { "id": "MONDO:0044222", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044222", "name": "P(1) phenotype", "description": "" }, { "id": "MONDO:0044222", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044222", "name": "P(2) phenotype", "description": "" }, { "id": "MONDO:0044222", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044222", "name": "P1(K) phenotype", "description": "" }, { "id": "MONDO:0044222", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044222", "name": "P2(K) phenotype", "description": "" }, { "id": "MONDO:0044222", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044222", "name": "blood group, P1PK system", "description": "" } ], "evidence": [ { "id": "111400", "database": "MIM", "url": "https://www.omim.org/entry/111400" } ] } ], "snv": [ { "evidence": [ { "id": "O75752", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75752" }, { "id": "rs1425147283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1425147283" }, { "id": "rs1425147283", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1425147283" }, { "id": "rs1425147283", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1425147283#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 154, "end_pos": 154, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NLT->KLT).", "chr_id": "3", "chr_pos": "161086293", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "N154", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1484914790", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1484914790" }, { "id": "rs1484914790", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1484914790" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 214, "end_pos": 214, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYS->NYA).", "chr_id": "3", "chr_pos": "161086115", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S214", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759554650", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759554650" }, { "id": "rs759554650", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759554650" }, { "id": "rs759554650", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759554650" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 214, "end_pos": 214, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYS->NYF).", "chr_id": "3", "chr_pos": "161086114", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S214", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75752", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75752" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 223, "end_pos": 223, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (HIS->NIS).", "chr_id": "3", "chr_pos": "161086088", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H223", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1353353343", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1353353343" }, { "id": "rs1353353343", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1353353343" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 225, "end_pos": 225, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "3", "chr_pos": "161086081", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S225", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75752", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75752" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 225, "end_pos": 225, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->Y).", "chr_id": "3", "chr_pos": "161086081", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S225", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1236724348", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1236724348" }, { "id": "rs1236724348", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1236724348#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 328, "end_pos": 328, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->NTR).", "chr_id": "3", "chr_pos": "161085772", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T328", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776780580", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776780580" }, { "id": "rs776780580", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776780580" }, { "id": "rs776780580", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776780580#frequency_tab" }, { "id": "rs776780580", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776780580" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 72, "end_pos": 72, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->SCS).", "chr_id": "3", "chr_pos": "161086540", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N72", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "72.69", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169255" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "72.85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169255" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "74.87", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169255" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000169255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169255" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "78.5", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169255" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "75.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169255" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "57.34", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000169255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169255" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": 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"" }, { "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": 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}, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75752", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75752" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75752", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75752" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75752" } ], "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": "O75752", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75752" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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B., Ferreira J. A., Afonso L. P., Santos L. L., Pinto de Sousa J., Mandel U., Clausen H., Vakhrushev S. Y., Reis C. A.", "evidence": [ { "database": "UniCarbKB", "id": "O75752", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1074/mcp.M114.046862", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "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": "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": "UniProtKB", "id": "O75752", "url": "https://www.uniprot.org/uniprot/O75752" }, { "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": "Molecular basis of the globoside-deficient P(k) blood group phenotype. Identification of four inactivating mutations in the UDP-N-acetylgalactosamine: globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase gene.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Hellberg A, Poole J, Olsson ML", "evidence": [ { "database": "UniProtKB", "id": "O75752", "url": "https://www.uniprot.org/uniprot/O75752" } ], "reference": [ { "type": "PubMed", "id": "12023287", "url": "https://glygen.org/publication/PubMed/12023287" } ] }, { "title": "The galactosyltransferase family.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2002", "authors": "Hennet T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840309", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840309" } ], "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": "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": "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.", "journal": "Genome Res.", "date": "2003", "authors": "Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, 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Chem.", "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": "O75752", "url": "https://www.uniprot.org/uniprot/O75752" }, { "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": 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"UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1", "gene_name": "B3galnt1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAPAVLTALPNRMSLRSLKWSLLLLSLLSFLVIWYLSLPHYNVIERVNWMYFYEYEPIYRQDFRFTLREHSNCSHQNPFLVILVTSRPSDVKARQAIRVTWGEKKSWWGYEVLTFFLLGQQAEREDKTLALSLEDEHVLYGDIIRQDFLDTYNNLTLKTIMAFRWVMEFCPNAKYIMKTDTDVFINTGNLVKYLLNLNHSEKFFTGYPLIDNYSYRGFFHKNHISYQEYPFKVFPPYCSGLGYIMSGDLVPRVYEMMSHVKPIKFEDVYVGICLNLLKVDIHIPEDTNLFFLYRIHLDVCQLRRVIAAHGFSSKEIITFWQVMLRNTTCHY", "length": 331 }, "evidence": [ { "id": "45932966", "url": "http://www.informatics.jax.org/homology/45932966", "database": "MGI" }, { "id": "O75752", "url": "https://omabrowser.org/oma/group/O75752/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O75752", "url": "https://www.uniprot.org/uniprot/O75752" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "O75752", "url": "https://www.uniprot.org/uniprot/O75752" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "protein glycosylation", "id": "GO:0006486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006486", "evidence": [ { "database": "UniProtKB", "id": "O75752", "url": "https://www.uniprot.org/uniprot/O75752" } ], "pmid": "" }, { "name": "protein O-linked glycosylation", "id": "GO:0006493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006493", "evidence": [ { "database": "UniProtKB", "id": "O75752", "url": "https://www.uniprot.org/uniprot/O75752" } ], "pmid": "" }, { "name": "glycosphingolipid metabolic process", "id": "GO:0006687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006687", "evidence": [ { "database": "UniProtKB", "id": "O75752", "url": "https://www.uniprot.org/uniprot/O75752" } ], "pmid": "" }, { "name": "oligosaccharide biosynthetic process", "id": "GO:0009312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009312", "evidence": [ { "database": "UniProtKB", "id": "O75752", "url": "https://www.uniprot.org/uniprot/O75752" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "hexosyltransferase activity", "id": "GO:0016758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016758", "evidence": [ { "database": "UniProtKB", "id": "O75752", "url": "https://www.uniprot.org/uniprot/O75752" } ], "pmid": "" }, { "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": "O75752", "url": "https://www.uniprot.org/uniprot/O75752" } ], "pmid": "" }, { "name": "galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity", "id": "GO:0047273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047273", "evidence": [ { "database": "UniProtKB", "id": "O75752", "url": "https://www.uniprot.org/uniprot/O75752" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 154, "end_pos": 156, "annotation": "n_glycosylation_sequon" }, { "start_pos": 198, "end_pos": 200, "annotation": "n_glycosylation_sequon" }, { "start_pos": 212, "end_pos": 214, "annotation": "n_glycosylation_sequon" }, { "start_pos": 326, "end_pos": 328, "annotation": "n_glycosylation_sequon" }, { "start_pos": 72, "end_pos": 74, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "22252", "name": "", "equation": "a globoside Gb3Cer (d18:1(4E)) + UDP-N-acetyl-alpha-D-galactosamine = a globoside Gb4Cer (d18:1(4E)) + H(+) + UDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6AY39-1", "O75752-1", "Q920V1-1" ], "evidence": [ { "id": "22252", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/22252" } ] }, { "id": "R-HSA-8878914", "name": "B3GALNT1 transfers GalNAc to Gb3Cer to form Gb4Cer", "equation": "", "summary": "Globosides are a type of glycosphingolipid with more than one sugar as the side chain of ceramide, usually a combination of N-acetylgalactosamine, D-glucose or D-galactose. They are components of cellular membranes, especially of the kidneys, red blood cells, blood serum, liver and spleen. Globoside synthesis (and therefore accummulation) increases in pathological conditions including neurodegenerative disorders, immune diseases and cancer. UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 (B3GALNT1, B3GALT3) is a Golgi membrane-associated protein that can add N-acetylgalactosamine (GalNAc) to globotriaosylceramide (Gb3Cer) to form Gb4Cer (Okajima et al. 2000, Amado et al. 1998).", "cellular_location": "Golgi lumen, Golgi membrane", "input_participant_list": [ "R-ALL-8879102" ], "output_participant_list": [ "R-ALL-8879101" ], "enzyme_list": [ "O75752-1" ], "evidence": [ { "id": "R-HSA-8878914", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8878914" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-8879101", "participant_name": "Gb4Cer [Golgi membrane]", "crossref": [ { "id": "88167", "database": "ChEBI", "url": "" }, { "id": "88167", "database": "ChEBI", "url": "" }, { "id": "88167", "database": "ChEBI", "url": "" }, { "id": "88167", "database": "ChEBI", "url": "" }, { "id": "88167", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-8879102", "participant_name": "Gb3Cer [Golgi membrane]", "crossref": [ { "id": "G00093", "database": "COMPOUND", "url": "" }, { "id": "18313", "database": "ChEBI", "url": "" }, { "id": "C04737", "database": "COMPOUND", "url": "" }, { "id": "G00093", "database": "COMPOUND", "url": "" }, { "id": "18313", "database": "ChEBI", "url": "" }, { "id": "C04737", "database": "COMPOUND", "url": "" }, { "id": "G00093", "database": "COMPOUND", "url": "" }, { "id": "18313", "database": "ChEBI", "url": "" }, { "id": "C04737", "database": "COMPOUND", "url": "" }, { "id": "18313", "database": "ChEBI", "url": "" }, { "id": "G00093", "database": "COMPOUND", "url": "" }, { "id": "C04737", "database": "COMPOUND", "url": "" }, { "id": "C04737", "database": "COMPOUND", "url": "" }, { "id": "G00093", "database": "COMPOUND", "url": "" }, { "id": "18313", "database": "ChEBI", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O75752", "gene_name": "B3GALNT1", "activity": [ { "ec_number": "2.4.1.79", "activity": "a globoside Gb3Cer (d18:1(4E)) + UDP-N-acetyl-alpha-D-galactosamine = a globoside Gb4Cer (d18:1(4E)) + H(+) + UDP.", "evidence": [ { "id": "O75752", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75752" } ] }, { "ec_number": "2.4.1.79", "activity": "", "evidence": [ { "id": "O75752", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75752" } ] }, { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "O75752", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75752" } ] } ] }, { "uniprot_ac": "Q6AY39", "gene_name": "B3galnt1", "activity": [ { "ec_number": "2.4.1.79", "activity": "a globoside Gb3Cer (d18:1(4E)) + UDP-N-acetyl-alpha-D-galactosamine = a globoside Gb4Cer (d18:1(4E)) + H(+) + UDP.", "evidence": [ { "id": "Q6AY39", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6AY39" } ] }, { "ec_number": "2.4.1.79", "activity": "", "evidence": [ { "id": "Q6AY39", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6AY39" } ] } ] }, { "uniprot_ac": "Q920V1", "gene_name": "B3galnt1", "activity": [ { "ec_number": "2.4.1.79", "activity": "a globoside Gb3Cer (d18:1(4E)) + UDP-N-acetyl-alpha-D-galactosamine = a globoside Gb4Cer (d18:1(4E)) + H(+) + UDP.", "evidence": [ { "id": "Q920V1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q920V1" } ] }, { "ec_number": "2.4.1.79", "activity": "", "evidence": [ { "id": "Q920V1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q920V1" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 72, 153, 154, 198, 212, 326 ], "o_linked_sites": [ 222, 225, 226 ], "snv_sites": [ 72, 154, 214, 223, 225, 328 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 154, "end_pos": 156 }, { "start_pos": 198, "end_pos": 200 }, { "start_pos": 212, "end_pos": 214 }, { "start_pos": 326, "end_pos": 328 }, { "start_pos": 72, "end_pos": 74 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 9 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 6 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": 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