[ { "title": "The human OCTN1 (SLC22A4) reconstituted in liposomes catalyzes acetylcholine transport which is defective in the mutant L503F associated to the Crohn's disease.", "journal": "Biochimica et biophysica acta", "date": "2012-03", "authors": "Pochini Lorena, Scalise Mariafrancesca, Galluccio Michele, Pani Giovambattista, Siminovitch Katherine A, Indiveri Cesare", "reference": { "type": "PubMed", "id": "22206629", "url": "https://pubmed.ncbi.nlm.nih.gov/22206629" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H015-1", "protein_name": "Solute carrier family 22 member 4", "gene_name": "SLC22A4", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H015", "url": "https://www.uniprot.org/uniprotkb/Q9H015" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.22206629", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Regulation by physiological cations of acetylcholine transport mediated by human OCTN1 (SLC22A4). Implications in the non-neuronal cholinergic system.", "journal": "Life sciences", "date": "2012-11-27", "authors": "Pochini Lorena, Scalise Mariafrancesca, Galluccio Michele, Indiveri Cesare", "reference": { "type": "PubMed", "id": "22569296", "url": "https://pubmed.ncbi.nlm.nih.gov/22569296" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H015-1", "protein_name": "Solute carrier family 22 member 4", "gene_name": "SLC22A4", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H015", "url": "https://www.uniprot.org/uniprotkb/Q9H015" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.22569296", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], 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[] } ] }, { "title": "Molecular characterization of a new urea transporter in the human kidney.", "journal": "FEBS letters", "date": "1996", "authors": "Olives B, Martial S, Mattei MG, Matassi G, Rousselet G, Ripoche P, Cartron JP, Bailly P", "reference": { "type": "PubMed", "id": "8647271", "url": "https://pubmed.ncbi.nlm.nih.gov/8647271" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H015-1", "protein_name": "Solute carrier family 22 member 4", "gene_name": "SLC22A4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q70HW3-1", "protein_name": "Mitochondrial S-adenosylmethionine carrier protein", "gene_name": "SLC25A26", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92681-1", "protein_name": "Regulatory solute carrier protein family 1 member 1", "gene_name": "RSC1A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86VL8-1", "protein_name": "Multidrug and toxin extrusion protein 2", "gene_name": "SLC47A2", "tax_name": "Human" }, { 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Transcriptional map of 170-kb region at chromosome 11p15.5: identification and mutational analysis of the BWR1A gene reveals the presence of mutations in tumor samples.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Schwienbacher C, Sabbioni S, Campi M, Veronese A, Bernardi G, Menegatti A, Hatada I, Mukai T, Ohashi H, Barbanti-Brodano G, Croce CM, Negrini M", "reference": { "type": "PubMed", "id": "9520460", "url": "https://pubmed.ncbi.nlm.nih.gov/9520460" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H015-1", "protein_name": "Solute carrier family 22 member 4", "gene_name": "SLC22A4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q70HW3-1", "protein_name": "Mitochondrial S-adenosylmethionine carrier protein", "gene_name": 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"tax_name": "Human" }, { "uniprot_canonical_ac": "O75751-1", "protein_name": "Solute carrier family 22 member 3", "gene_name": "SLC22A3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N1D0-1", "protein_name": "Uncharacterized protein SLC67A1-AS", "gene_name": "SLC67A1-AS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q53GA4-1", "protein_name": "Pleckstrin homology-like domain family A member 2", "gene_name": "PHLDA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96FL8-1", "protein_name": "Multidrug and toxin extrusion protein 1", "gene_name": "SLC47A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZD6-1", "protein_name": "Solute carrier family 22 member 15", "gene_name": "SLC22A15", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15245-1", "protein_name": "Solute carrier family 22 member 1", "gene_name": "SLC22A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q15849-1", "protein_name": "Urea transporter 2", "gene_name": "SLC14A2", "tax_name": "Human" }, 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"gene_name": "RSC1A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86VL8-1", "protein_name": "Multidrug and toxin extrusion protein 2", "gene_name": "SLC47A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O76082-1", "protein_name": "Organic cation/carnitine transporter 2", "gene_name": "SLC22A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15244-1", "protein_name": "Solute carrier family 22 member 2", "gene_name": "SLC22A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86VW1-1", "protein_name": "Solute carrier family 22 member 16", "gene_name": "SLC22A16", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q01196-1", "protein_name": "Runt-related transcription factor 1", "gene_name": "RUNX1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13336-1", "protein_name": "Urea transporter 1", "gene_name": "SLC14A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75751-1", "protein_name": "Solute carrier family 22 member 3", "gene_name": "SLC22A3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96FL8-1", "protein_name": "Multidrug and toxin extrusion protein 1", "gene_name": "SLC47A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZD6-1", "protein_name": "Solute carrier family 22 member 15", "gene_name": "SLC22A15", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15245-1", "protein_name": "Solute carrier family 22 member 1", "gene_name": "SLC22A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q15849-1", "protein_name": "Urea transporter 2", "gene_name": "SLC14A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96BI1-1", "protein_name": "Solute carrier family 67 member A1", "gene_name": "SLC67A1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H015", "url": "https://www.uniprot.org/uniprotkb/Q9H015" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9655880", 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"https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:3659", "recommended_name": { "id": "DOID:3659", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3659", "name": "sialuria", "description": "A lysosomal storage disease characterized by increased sialic acid in the urine." }, "synonyms": [ { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria", "description": "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." }, { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria", "description": "" }, { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria, French type", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "Salla disease", "description": "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive." }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "Salla disease", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "sialic acid storage disease", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "SD", "description": "" }, { "id": "MIM:269921", "resource": "MIM", "url": "https://www.omim.org/entry/269921", "name": "Sialuria", "description": "Sialuria" }, { "id": "MIM:604369", "resource": "MIM", "url": "https://www.omim.org/entry/604369", "name": "Salla disease", "description": "Salla disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "269921", "database": "MIM", "url": "https://www.omim.org/entry/269921" }, { "id": "3659", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3659" }, { "id": "3659", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3659" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "Q9NRA2-1" } ], "record_id": "pubmed.12794688", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred.", "journal": "Molecular genetics and metabolism", "date": "2004-06", "authors": "Landau D, Cohen D, Shalev H, Pinsk V, Yerushalmi B, Zeigler M, Birk O S", "reference": { "type": "PubMed", "id": "15172005", "url": "https://pubmed.ncbi.nlm.nih.gov/15172005" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NRA2-1", "protein_name": "Sialin", "gene_name": "SLC17A5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRA2", "url": "https://www.uniprot.org/uniprotkb/Q9NRA2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": 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}, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.", "journal": "Neurogenetics", "date": "2005", "authors": "Biancheri R, Rossi A, Verbeek HA, Schot R, Corsolini F, Assereto S, Mancini GM, Verheijen FW, Minetti C, Filocamo M", "reference": { "type": "PubMed", "id": "16170568", "url": "https://pubmed.ncbi.nlm.nih.gov/16170568" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NRA2-1", "protein_name": "Sialin", "gene_name": "SLC17A5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRA2", "url": "https://www.uniprot.org/uniprotkb/Q9NRA2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "Q9NRA2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRA2" }, { "id": "rs80338795", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80338795" }, { "id": "rs80338795", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs80338795" }, { "id": "rs80338795", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80338795" }, { "id": "rs80338795", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs80338795#frequency_tab" }, { "id": "rs80338795", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs80338795" }, { "id": "10947946", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10947946" }, { "id": "15510212", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15510212" }, { "id": "15516337", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15516337" }, { "id": "16170568", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16170568" } ], "glycoeffect": [], "start_pos": 136, "end_pos": 136, "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/transporter).", "chr_id": "6", "chr_pos": "73641810", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K136", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": 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Learning difficulties and seizures may occur in childhood." }, { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria", "description": "" }, { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria, French type", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "Salla disease", "description": "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). 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disease characterized by increased sialic acid in the urine." }, "synonyms": [ { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria", "description": "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." }, { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria", "description": "" }, { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria, French type", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "Salla disease", "description": "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). 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Biophys. Res. Commun.", "date": "2001", "authors": "Uchida T, Nakao A, Nakano N, Kuramasu A, Saito H, Okumura K, Ra C, Ogawa H", "reference": { "type": "PubMed", "id": "11594764", "url": "https://pubmed.ncbi.nlm.nih.gov/11594764" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NSI8-1", "protein_name": "SAM domain-containing protein SAMSN-1", "gene_name": "SAMSN1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NSI8", "url": "https://www.uniprot.org/uniprotkb/Q9NSI8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11594764", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", 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{ "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "SAMSN1 is highly expressed and associated with a poor survival in glioblastoma multiforme.", "journal": "PloS one", "date": "2013", "authors": "Yan Y, Zhang L, Xu T, Zhou J, Qin R, Chen C, Zou Y, Fu D, Hu G, Chen J, Lu Y", "reference": { "type": "PubMed", "id": "24278465", "url": "https://pubmed.ncbi.nlm.nih.gov/24278465" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NSI8-1", "protein_name": "SAM domain-containing protein SAMSN-1", "gene_name": "SAMSN1", "tax_name": "Human" } ], "species": [ { 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"o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 4 }, { "field": "exact_n_linked_sites", "count": 4 }, { "field": "fuzzy_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl", "mining_tool", "filter_code", "uniprot_canonical_ac", "icn3d_view.label", "icn3d_view.url" ] } ] }, { "title": "Topological studies of hSVCT1, the human sodium-dependent vitamin C transporter and the influence of N-glycosylation on its intracellular targeting.", "journal": "Exp. 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"field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_sites", "count": 3 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 3 }, { "field": "exact_n_linked_sites", "count": 3 }, { "field": "fuzzy_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl", "mining_tool", "filter_code", "uniprot_canonical_ac", "icn3d_view.label", "icn3d_view.url" ] } ] }, { "title": "Calsyntenin-3 interacts with the sodium-dependent vitamin C transporter-2 to regulate vitamin C uptake.", "journal": "Int. J. Biol. Macromol.", "date": "2021", "authors": "Subramanian VS, Teafatiller T, Vidal J, Gunaratne GS, Rodriguez-Ortiz CJ, Kitazawa M, Marchant JS", "reference": { "type": "PubMed", "id": "34673103", "url": "https://pubmed.ncbi.nlm.nih.gov/34673103" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGH3-1", "protein_name": "Solute carrier family 23 member 2", "gene_name": "SLC23A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BQT9-1", "protein_name": "Calsyntenin-3", "gene_name": "CLSTN3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H4D0-1", "protein_name": "Calsyntenin-2", "gene_name": "CLSTN2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGH3", "url": "https://www.uniprot.org/uniprotkb/Q9UGH3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.34673103", "abstract": "", "glycosylation": [], 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"o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Impact of SLC23A1 and SLC23A2 Polymorphisms on the Risk for Preeclampsia in a Chinese Han Population.", "journal": "Journal of nutritional science and vitaminology", "date": "2022", "authors": "Hou Huabin, Zhang Yongjie, Wu Hongjing, Huang Zuzhou, Liu Shiguo, Liang Hui, Xu Yinglei", 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], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "SVCT2-mediated ascorbic acid uptake buffers stress responses via DNA hydroxymethylation reprogramming of S100 calcium-binding protein A4 gene.", "journal": "Redox biology", "date": "2022-12", "authors": "Han Qian-Qian, Wu Peng-Fei, Li Yi-Heng, Cao Yu, Chen Jian-Guo, Wang Fang", "reference": { "type": "PubMed", "id": "36436457", "url": "https://pubmed.ncbi.nlm.nih.gov/36436457" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGH3-1", "protein_name": "Solute carrier family 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Med. Genet.", "date": "2004", "authors": "Cantagrel V, Lossi AM, Boulanger S, Depetris D, Mattei MG, Gecz J, Schwartz CE, Van Maldergem L, Villard L", "reference": { "type": "PubMed", "id": "15466006", "url": "https://pubmed.ncbi.nlm.nih.gov/15466006" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q86VZ1-1", "protein_name": "S-geranylgeranyl-glutathione receptor P2RY8", "gene_name": "P2RY8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5QGS0-1", "protein_name": "Neurite extension and migration factor", "gene_name": "NEXMIF", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86VZ1", "url": "https://www.uniprot.org/uniprotkb/Q86VZ1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15466006", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], 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