{ "uniprot_canonical_ac": "O15466-1", "uniprot_ac": "O15466", "uniprot_id": "SIA8E_HUMAN", "mass": { "chemical_mass": 43895.0, "monoisotopic_mass": 43895.0 }, "refseq": { "ac": "NP_001294915", "name": "alpha-2,8-sialyltransferase 8E isoform 1", "summary": "The protein encoded by this gene is a type II membrane protein that may be present in the Golgi apparatus. The encoded protein, which is a member of glycosyltransferase family 29, may be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, and GT3 from GD1a, GT1b, GM1b, and GD3, respectively. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294915" }, "gene_names": [ { "name": "ST8SIA5", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15466", "id": "O15466" }, { "name": "SIAT8-E; SIAT8E; ST8SiaV", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294915", "id": "NP_001294915" }, { "name": "SIAT8E", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15466", "id": "O15466" }, { "name": "ST8SIA5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294915", "id": "NP_001294915" } ], "protein_names": [ { "name": "Alpha-2,8-sialyltransferase 8E", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15466" }, { "name": "2.4.99.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15466" }, { "name": "SIAT8-E", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15466" }, { "name": "ST8SiaV", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15466" }, { "name": "Sialyltransferase 8E", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15466" }, { "name": "Sialyltransferase St8Sia V", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15466" }, { "name": "alpha-2,8-sialyltransferase 8E isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294915", "id": "NP_001294915" }, { "name": "sialyltransferase 8E (alpha-2, 8-polysialytransferase); alpha-2,8-sialyltransferase 8E; sialyltransferase St8Sia V; ST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294915", "id": "NP_001294915" } ], "function": [ { "annotation": "Chol-1alpha antigens (cholinergic neuron-specific gangliosides), such as GT1aalpha and GQ1balpha, which are minor species in the brain, are increased in the double-transgenic mouse brain. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001294915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294915" }, { "database": "PubMed", "id": "20930939", "url": "https://glygen.org/publication/PubMed/20930939" } ] }, { "annotation": "Involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, GP1c and GT3 from GD1a, GT1b, GM1b and GD3 respectively.", "evidence": [ { "database": "UniProtKB", "id": "O15466", "url": "https://www.uniprot.org/uniprot/O15466#function" }, { "database": "PubMed", "id": "9199191", "url": "https://glygen.org/publication/PubMed/9199191" } ] }, { "annotation": "The protein encoded by this gene is a type II membrane protein that may be present in the Golgi apparatus. The encoded protein, which is a member of glycosyltransferase family 29, may be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, and GT3 from GD1a, GT1b, GM1b, and GD3, respectively. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001294915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294915" } ] }, { "annotation": "Upregulated lncHRK2:1 prompts nucleus pulposus cell senescence in intervertebral disc degeneration.", "evidence": [ { "database": "RefSeq", "id": "NP_001294915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294915" }, { "database": "PubMed", "id": "33174041", "url": "https://glygen.org/publication/PubMed/33174041" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O15466", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15466" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 286, "end_pos": 286, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 2 out of 6 filters: num. of cancers (3); n-glyco-sequon-loss (NVS->NVL).", "chr_id": "18", "chr_pos": "46680316", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S286", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15466" } ], "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": [ { 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"evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000591375.1", "url": "https://www.ensembl.org/id/ENST00000591375.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000468112.1", "url": "https://www.ensembl.org/id/ENSP00000468112.1" } ] } }, { "isoform_ac": "O15466-1", "url": "", "sequence": { "sequence": "MRYADPSANRDLLGSRTLLFIFICAFALVTLLQQILYGRNYIKRYFEFYEGPFEYNSTRCLELRHEILEVKVLSMVKQSELFDRWKSLQMCKWAMNISEANQFKSTLSRCCNAPAFLFTTQKNTPLGTKLKYEVDTSGIYHINQEIFRMFPKDMPYYRSQFKKCAVVGNGGILKNSRCGREINSADFVFRCNLPPISEKYTMDVGVKTDVVTVNPSIITERFHKLEKWRRPFYRVLQVYENASVLLPAFYNTRNTDVSIRVKYVLDDFESPQAVYYFHPQYLVNVSRYWLSLGVRAKRISTGLILVTAALELCEEVHLFGFWAFPMNPSGLYITHHYYDNVKPRPGFHAMPSEIFNFLHLHSRGILRVHTGTCSCC", "length": 376, "header": "sp|O15466-1|SIA8E_HUMAN Isoform 1 of Alpha-2,8-sialyltransferase 8E OS=Homo sapiens OX=9606 GN=ST8SIA5 PE=1 SV=2 CANONICAL=O15466-1" }, "locus": { "chromosome": "18", "start_pos": 46756508, "end_pos": 46680045, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000315087.12", "url": "https://www.ensembl.org/id/ENST00000315087.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000321343.6", "url": "https://www.ensembl.org/id/ENSP00000321343.6" } ] } }, { "isoform_ac": "O15466-2", "url": "", "sequence": { "sequence": "MRYADPSANRDLLGSRTLLFIFICAFALVTLLQQILYGRNYIKRGLQFGWQSGDQLTNWTGLFNVTDDPAVQSGSDSSSRYFEFYEGPFEYNSTRCLELRHEILEVKVLSMVKQSELFDRWKSLQMCKWAMNISEANQFKSTLSRCCNAPAFLFTTQKNTPLGTKLKYEVDTSGIYHINQEIFRMFPKDMPYYRSQFKKCAVVGNGGILKNSRCGREINSADFVFRCNLPPISEKYTMDVGVKTDVVTVNPSIITERFHKLEKWRRPFYRVLQVYENASVLLPAFYNTRNTDVSIRVKYVLDDFESPQAVYYFHPQYLVNVSRYWLSLGVRAKRISTGLILVTAALELCEEVHLFGFWAFPMNPSGLYITHHYYDNVKPRPGFHAMPSEIFNFLHLHSRGILRVHTGTCSCC", "length": 412, "header": "sp|O15466-2|SIA8E_HUMAN Isoform 2 of Alpha-2,8-sialyltransferase 8E OS=Homo sapiens OX=9606 GN=ST8SIA5 PE=1 SV=2 CANONICAL=O15466-1" }, "locus": { "chromosome": "18", "start_pos": 46756508, "end_pos": 46680045, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000538168.5", "url": "https://www.ensembl.org/id/ENST00000538168.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000445492.1", "url": "https://www.ensembl.org/id/ENSP00000445492.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 137, "start_aa": "Ser", "end_pos": 137, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser137", "evidence": [ { "id": "O15466", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15466" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 241, "start_aa": "Asn", "end_pos": 241, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn241", "evidence": [ { "id": "O15466", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15466#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 284, "start_aa": "Asn", "end_pos": 284, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn284", "evidence": [ { "id": "O15466", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15466#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 56, "start_aa": "Asn", "end_pos": 56, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn56", "evidence": [ { "id": "O15466", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15466#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 96, "start_aa": "Asn", "end_pos": 96, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn96", "evidence": [ { "id": "O15466", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15466#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycosyltransferase-activity", "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Cloning and characterization of NEU2, a human gene homologous to rodent soluble sialidases.", "journal": "Genomics", "date": "1999", "authors": "Monti E, Preti A, Rossi E, Ballabio A, Borsani G", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "10191093", "url": "https://glygen.org/publication/PubMed/10191093" } ] }, { "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-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "10206952", "url": "https://glygen.org/publication/PubMed/10206952" } ] }, { "title": "Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.", "journal": "American journal of human genetics", "date": "1999", "authors": "Seppala R, Lehto VP, Gahl WA", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "10330343", "url": "https://glygen.org/publication/PubMed/10330343" } ] }, { "title": "UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation.", "journal": "Science (New York, N.Y.)", "date": "1999", "authors": "Keppler OT, Hinderlich S, Langner J, Schwartz-Albiez R, Reutter W, Pawlita M", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "10334995", "url": "https://glygen.org/publication/PubMed/10334995" } ] }, { "title": "Cloning, expression, and chromosomal mapping of a human ganglioside sialidase.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Wada T, Yoshikawa Y, Tokuyama S, Kuwabara M, Akita H, Miyagi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "10405317", "url": "https://glygen.org/publication/PubMed/10405317" } ] }, { "title": "Primary structure and expression analysis of human UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase, the bifunctional enzyme in neuraminic acid biosynthesis.", "journal": "FEBS letters", "date": "1999", "authors": "Lucka L, Krause M, Danker K, Reutter W, Horstkorte R", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "10431835", "url": "https://glygen.org/publication/PubMed/10431835" } ] }, { "title": "Molecular cloning and expression of Galbeta1,3GalNAc alpha2, 3-sialyltransferase from human fetal liver.", "journal": "European journal of biochemistry", "date": "1999", "authors": "Shang J, Qiu R, Wang J, Liu J, Zhou R, Ding H, Yang S, Zhang S, Jin C", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "10504389", "url": "https://glygen.org/publication/PubMed/10504389" } ] }, { "title": "Cloning and expression of a human gene encoding an N-acetylgalactosamine-alpha2,6-sialyltransferase (ST6GalNAc I): a candidate for synthesis of cancer-associated sialyl-Tn antigens.", "journal": "Glycobiology", "date": "1999", "authors": "Ikehara Y, Kojima N, Kurosawa N, Kudo T, Kono M, Nishihara S, Issiki S, Morozumi K, Itzkowitz S, Tsuda T, Nishimura SI, Tsuji S, Narimatsu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "10536037", "url": "https://glygen.org/publication/PubMed/10536037" } ] }, { "title": "A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.", "journal": "Nature genetics", "date": "1999", "authors": "Verheijen FW, Verbeek E, Aula N, Beerens CE, Havelaar AC, Joosse M, Peltonen L, Aula P, Galjaard H, van der Spek PJ, Mancini GM", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "10581036", "url": "https://glygen.org/publication/PubMed/10581036" } ] }, { "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 and functional expression of human ST6GalNAc II. Molecular expression in various human cultured cells.", "journal": "Biochimica et biophysica acta", "date": "2000", "authors": "Samyn-Petit B, Krzewinski-Recchi MA, Steelant WF, Delannoy P, Harduin-Lepers A", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "10742600", "url": "https://glygen.org/publication/PubMed/10742600" } ] }, { "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": "Cloning and expression of the human N-acetylneuraminic acid phosphate synthase gene with 2-keto-3-deoxy-D-glycero- D-galacto-nononic acid biosynthetic ability.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Lawrence SM, Huddleston KA, Pitts LR, Nguyen N, Lee YC, Vann WF, Coleman TA, Betenbaugh MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "10749855", "url": "https://glygen.org/publication/PubMed/10749855" } ] }, { "title": "Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane.", "journal": "The Biochemical journal", "date": "2000", "authors": "Monti E, Bassi MT, Papini N, Riboni M, Manzoni M, Venerando B, Croci G, Preti A, Ballabio A, Tettamanti G, Borsani G", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "10861246", "url": "https://glygen.org/publication/PubMed/10861246" } ] }, { "title": "The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.", "journal": "American journal of human genetics", "date": "2000", "authors": "Aula N, Salomaki P, Timonen R, Verheijen F, Mancini G, Mansson JE, Aula P, Peltonen L", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "10947946", "url": "https://glygen.org/publication/PubMed/10947946" } ] }, { "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": "Cloning, expression and gene organization of a human Neu5Ac alpha 2-3Gal beta 1-3GalNAc alpha 2,6-sialyltransferase: hST6GalNAcIV.", "journal": "The Biochemical journal", "date": "2000", "authors": "Harduin-Lepers A, Stokes DC, Steelant WF, Samyn-Petit B, Krzewinski-Recchi MA, Vallejo-Ruiz V, Zanetta JP, Auge C, Delannoy P", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "11062056", "url": "https://glygen.org/publication/PubMed/11062056" } ] }, { "title": "Unique disulfide bond structures found in ST8Sia IV polysialyltransferase are required for its activity.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Angata K, Yen TY, El-Battari A, Macher BA, Fukuda M", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "11279095", "url": "https://glygen.org/publication/PubMed/11279095" } ] }, { "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": "The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.", "journal": "Nature genetics", "date": "2001", "authors": "Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "11528398", "url": "https://glygen.org/publication/PubMed/11528398" } ] }, { "title": "Cloning and expression of human sialic acid pathway genes to generate CMP-sialic acids in insect cells.", "journal": "Glycoconjugate journal", "date": "2001", "authors": "Lawrence SM, Huddleston KA, Tomiya N, Nguyen N, Lee YC, Vann WF, Coleman TA, Betenbaugh MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "11602804", "url": "https://glygen.org/publication/PubMed/11602804" } ] }, { "title": "Identification of a novel membrane protein, HP59, with therapeutic potential as a target of tumor angiogenesis.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2001", "authors": "Fu C, Bardhan S, Cetateanu ND, Wamil BD, Wang Y, Yan HP, Shi E, Carter C, Venkov C, Yakes FM, Page DL, Lloyd RS, Mernaugh RL, Hellerqvist CG", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "11751519", "url": "https://glygen.org/publication/PubMed/11751519" } ] }, { "title": "Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).", "journal": "Journal of human genetics", "date": "2002", "authors": "Kayashima T, Matsuo H, Satoh A, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Niikawa N, Kishino T", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "11916006", "url": "https://glygen.org/publication/PubMed/11916006" } ] }, { "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": "Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.", "journal": "Neurology", "date": "2002", "authors": "Tomimitsu H, Ishikawa K, Shimizu J, Ohkoshi N, Kanazawa I, Mizusawa H", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "12177386", "url": "https://glygen.org/publication/PubMed/12177386" } ] }, { "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": "Characterization of the second type of human beta-galactoside alpha 2,6-sialyltransferase (ST6Gal II), which sialylates Galbeta 1,4GlcNAc structures on oligosaccharides preferentially. 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"", "equation": "a ganglioside GD3 (d18:1(4E)) + CMP-N-acetyl-beta-neuraminate = a ganglioside GT3 (d18:1(4E)) + CMP + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6ZXC8-1", "G3V7T2-1", "Q92185-1", "O15466-1", "Q64687-1", "P70126-1" ], "evidence": [ { "id": "41764", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/41764" } ] }, { "id": "41768", "name": "", "equation": "a ganglioside GD1a (d18:1(4E)) + CMP-N-acetyl-beta-neuraminate = a ganglioside GT1a (d18:1(4E)) + CMP + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6ZXC8-1", "G3V7T2-1", "Q92185-1", "O15466-1", "P61647-1", "Q64687-1", "P70126-1", "Q8K4T1-1" ], "evidence": [ { "id": "41768", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/41768" } ] }, { "id": "41772", "name": "", "equation": "a ganglioside GT1b (d18:1(4E)) + CMP-N-acetyl-beta-neuraminate = a ganglioside GQ1b (d18:1(4E)) + CMP + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6ZXC8-1", "G3V7T2-1", "Q92185-1", "O15466-1", "P61647-1", "Q64687-1", "P70126-1", "Q8K4T1-1" ], "evidence": [ { "id": "41772", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/41772" } ] }, { "id": "47576", "name": "", "equation": "a ganglioside GM1b (d18:1(4E)) + CMP-N-acetyl-beta-neuraminate = a ganglioside GD1c (d18:1(4E)) + CMP + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6ZXC8-1", "G3V7T2-1", "Q92185-1", "O15466-1", "P61647-1", "Q64687-1", "P70126-1", "Q8K4T1-1" ], "evidence": [ { "id": "47576", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/47576" } ] }, { "id": "47592", "name": "", "equation": "a ganglioside GQ1c (d18:1(4E)) + CMP-N-acetyl-beta-neuraminate = a ganglioside GP1c (d18:1(4E)) + CMP + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6ZXC8-1", "O15466-1", "P70126-1" ], "evidence": [ { "id": "47592", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/47592" } ] }, { "id": "R-HSA-4084978", "name": "ST8SIA1-6 transfer Neu5Ac to terminal Neu5Ac residues", "equation": "", "summary": "The alpha-2,8-sialyltransferases 1-6 (ST8SIA1-6) are involved in the production of gangliosides, glycoproteins and glycolipids. They transfer N-acetylneuraminate (Neu5Ac) to terminal Neu5Ac-yl groups of these glycoconjugates (Nakayama et al. 1996, Scheidegger et al. 1995, Lee et al. 1998, Angata et al. 2001, Kim et al. 1997). Once sialylated, glycoconjugates translocate to the plasma membrane by an unknown mechanism. For simplicity, Neu5Ac-R is shown in a generic form where R represents other sugars O-linked to proteins which can result in a large variability in glycoconjugate structures.", "cellular_location": "Golgi lumen, Golgi membrane", "input_participant_list": [ "R-ALL-4088006" ], "output_participant_list": [ "R-ALL-4087982" ], "enzyme_list": [ "O43173-1", "P61647-1", "Q92187-1", "O15466-1", "Q92185-1", "Q92186-1" ], "evidence": [ { "id": "R-HSA-4084978", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4084978" } ] }, { "id": "R-HSA-9845587", "name": "ST8SIA5 transfers Neu5Ac to gangliosides", "equation": "", "summary": "Alpha-2,8-sialyltransferase 5 (ST8SIA5) transfers N-acetylneuraminate (Neu5Ac) to terminal Neu5Ac-yl groups of gangliosides GD1a, GT1b, GM1b and GD3 to produce gangliosides GD1c, GT1a, GQ1b, and GP1c (Kono et al., 1996; Kim et al. 1997). Gangliosides localize to the plasma membrane via vesicle transport, endocytosis, and exocytosis. Three isoforms of ST8SIA5 may have different localizations and substrate specificities (Araki et al., 2022).", "cellular_location": "Golgi lumen, Golgi membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15466-1" ], "evidence": [ { "id": "R-HSA-9845587", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9845587" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-4087982", "participant_name": "Neu5Ac-2,8-Neu5Ac-R [Golgi lumen]", "crossref": [ { "id": "75130", "database": "ChEBI", "url": "" }, { "id": "75130", "database": "ChEBI", "url": "" }, { "id": "75130", "database": "ChEBI", "url": "" }, { "id": "75130", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-4088006", "participant_name": "Neu5Ac-R [Golgi lumen]", "crossref": [ { "id": "75133", "database": "ChEBI", "url": "" }, { "id": "75133", "database": "ChEBI", "url": "" }, { "id": "75133", "database": "ChEBI", "url": "" }, { "id": "75133", "database": "ChEBI", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "G3V7T2", "gene_name": "St8sia1", "activity": [ { "ec_number": "2.4.3.8", "activity": "an N-acetyl-alpha-neuraminyl-(2->3)-beta-D-galactosyl derivative + CMP-N-acetyl-beta-neuraminate = an N-acetyl-alpha-neuraminyl-(2->8)-N-acetyl-alpha-neuraminyl-(2->3)-beta-D-galactosyl derivative + CMP + H(+).", "evidence": [ { "id": "G3V7T2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/G3V7T2" } ] }, { "ec_number": "2.4.3.8", "activity": "", "evidence": [ { "id": "G3V7T2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/G3V7T2" } ] } ] }, { "uniprot_ac": "O15466", "gene_name": "ST8SIA5", "activity": [ { "ec_number": "2.4.99.-", "activity": "", "evidence": [ { "id": "O15466", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15466" } ] } ] }, { "uniprot_ac": "O43173", "gene_name": "ST8SIA3", "activity": [ { "ec_number": "2.4.99.-", "activity": "", "evidence": [ { "id": "O43173", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43173" } ] } ] }, { "uniprot_ac": "P61647", "gene_name": "ST8SIA6", "activity": [ { "ec_number": "2.4.99.-", "activity": "", "evidence": [ { "id": "P61647", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61647" } ] } ] }, { "uniprot_ac": "P70126", "gene_name": "St8sia5", "activity": [ { "ec_number": "2.4.99.-", "activity": "", "evidence": [ { "id": "P70126", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P70126" } ] } ] }, { "uniprot_ac": "Q64687", "gene_name": "St8sia1", "activity": [ { "ec_number": "2.4.3.8", "activity": "an N-acetyl-alpha-neuraminyl-(2->3)-beta-D-galactosyl derivative + CMP-N-acetyl-beta-neuraminate = an N-acetyl-alpha-neuraminyl-(2->8)-N-acetyl-alpha-neuraminyl-(2->3)-beta-D-galactosyl derivative + CMP + H(+).", "evidence": [ { "id": "Q64687", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q64687" } ] }, { "ec_number": "2.4.3.8", "activity": "", "evidence": [ { "id": "Q64687", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q64687" } ] } ] }, { "uniprot_ac": "Q6ZXC8", "gene_name": "St8sia5", "activity": [ { "ec_number": "2.4.99.-", "activity": "", "evidence": [ { "id": "Q6ZXC8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6ZXC8" } ] } ] }, { "uniprot_ac": "Q8K4T1", "gene_name": "St8sia6", "activity": [ { "ec_number": "2.4.99.-", "activity": "", "evidence": [ { "id": "Q8K4T1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8K4T1" } ] } ] }, { "uniprot_ac": "Q92185", "gene_name": "ST8SIA1", "activity": [ { "ec_number": "2.4.3.8", "activity": "an N-acetyl-alpha-neuraminyl-(2->3)-beta-D-galactosyl derivative + CMP-N-acetyl-beta-neuraminate = an N-acetyl-alpha-neuraminyl-(2->8)-N-acetyl-alpha-neuraminyl-(2->3)-beta-D-galactosyl derivative + CMP + H(+).", "evidence": [ { "id": "Q92185", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92185" } 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