{ "uniprot_canonical_ac": "P13866-1", "uniprot_ac": "P13866", "uniprot_id": "SC5A1_HUMAN", "mass": { "chemical_mass": 73498.0, "monoisotopic_mass": 73498.0 }, "refseq": { "ac": "NP_000334", "name": "sodium/glucose cotransporter 1 isoform 1", "summary": "This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000334" }, "gene_names": [ { "name": "SLC5A1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P13866", "id": "P13866" }, { "name": "D22S675; NAGT; SGLT-1; SGLT1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000334", "id": "NP_000334" }, { "name": "NAGT", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P13866", "id": "P13866" }, { "name": "SGLT1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P13866", "id": "P13866" }, { "name": "SLC5A1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000334", "id": "NP_000334" } ], "protein_names": [ { "name": "Sodium/glucose cotransporter 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P13866" }, { "name": "High affinity sodium-glucose cotransporter", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13866" }, { "name": "Na(+)/glucose cotransporter 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13866" }, { "name": "Na+/glucose cotransporter 1; high affinity sodium-glucose cotransporter; solute carrier family 5 (sodium/glucose cotransporter), member 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000334", "id": "NP_000334" }, { "name": "Solute carrier family 5 member 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13866" }, { "name": "sodium/glucose cotransporter 1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000334", "id": "NP_000334" } ], "function": [ { "annotation": "A risk model of gene signatures for predicting platinum response and survival in ovarian cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000334", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000334" }, { "database": "PubMed", "id": "35361267", "url": "https://glygen.org/publication/PubMed/35361267" } ] }, { "annotation": "Decreased expression of Glucagon-like peptide-1 receptor and Sodium-glucose co-transporter 2 in patients with proliferative diabetic retinopathy. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000334", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000334" }, { "database": "PubMed", "id": "36465606", "url": "https://glygen.org/publication/PubMed/36465606" } ] }, { "annotation": "Electrogenic Na(+)-coupled sugar simporter that actively transports D-glucose or D-galactose at the plasma membrane, with a Na(+) to sugar coupling ratio of 2:1. Transporter activity is driven by a transmembrane Na(+) electrochemical gradient set by the Na(+)/K(+) pump (PubMed:20980548, PubMed:35077764, PubMed:8563765, PubMed:34880492). Has a primary role in the transport of dietary monosaccharides from enterocytes to blood. Responsible for the absorption of D-glucose or D-galactose across the apical brush-border membrane of enterocytes, whereas basolateral exit is provided by GLUT2. Additionally, functions as a D-glucose sensor in enteroendocrine cells, triggering the secretion of the incretins GCG and GIP that control food intake and energy homeostasis (PubMed:8563765) (By similarity). Together with SGLT2, functions in reabsorption of D-glucose from glomerular filtrate, playing a nonredundant role in the S3 segment of the proximal tubules (By similarity). Transports D-glucose into endometrial epithelial cells, controlling glycogen synthesis and nutritional support for the embryo as well as the decidual transformation of endometrium prior to conception (PubMed:28974690). Acts as a water channel enabling passive water transport across the plasma membrane in response to the osmotic gradient created upon sugar and Na(+) uptake. Has high water conductivity, comparable to aquaporins, and therefore is expected to play an important role in transepithelial water permeability, especially in the small intestine.", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866#function" }, { "database": "UniProtKB", "id": "Q8C3K6", "url": "https://www.uniprot.org/uniprot/Q8C3K6#function" }, { "database": "PubMed", "id": "26945065", "url": "https://glygen.org/publication/PubMed/26945065" }, { "database": "PubMed", "id": "34880492", "url": "https://glygen.org/publication/PubMed/34880492" }, { "database": "PubMed", "id": "35077764", "url": "https://glygen.org/publication/PubMed/35077764" }, { "database": "PubMed", "id": "8563765", "url": "https://glygen.org/publication/PubMed/8563765" }, { "database": "PubMed", "id": "28974690", "url": "https://glygen.org/publication/PubMed/28974690" }, { "database": "PubMed", "id": "14695256", "url": "https://glygen.org/publication/PubMed/14695256" }, { "database": "PubMed", "id": "20980548", "url": "https://glygen.org/publication/PubMed/20980548" } ] }, { "annotation": "Obesity and overweight are linked to increased sodium-glucose cotransporter 1 and glucose transporter 5 levels in duodenum.", "evidence": [ { "database": "RefSeq", "id": "NP_000334", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000334" }, { "database": "PubMed", "id": "36746764", "url": "https://glygen.org/publication/PubMed/36746764" } ] }, { "annotation": "SLC5A1 Variants in Turkish Patients with Congenital Glucose-Galactose Malabsorption. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000334", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000334" }, { "database": "PubMed", "id": "37510265", "url": "https://glygen.org/publication/PubMed/37510265" } ] }, { "annotation": "This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_000334", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000334" } ] } ], "disease": [ { "disease_id": "MONDO:0011731", "recommended_name": { "id": "MONDO:0011731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011731", "name": "glucose-galactose malabsorption", "description": "Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period." }, "synonyms": [ { "id": "MONDO:0011731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011731", "name": "SGLT1 deficiency", "description": "" }, { "id": "MONDO:0011731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011731", "name": "glucose-galactose malabsorption", "description": "" }, { "id": "MONDO:0011731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011731", "name": "Complex carbohydrate intolerance", "description": "" }, { "id": "MONDO:0011731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011731", "name": "GGM", "description": "" }, { "id": "MONDO:0011731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011731", "name": "carbohydrate intolerance of glucose galactose", "description": "" }, { "id": "MONDO:0011731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011731", "name": "glucose galactose malabsorption deficiency", "description": "" }, { "id": "MONDO:0011731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011731", "name": "glucose/galactose malabsorption", "description": "" }, { "id": "MONDO:0011731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011731", "name": "monosaccharide malabsorption", "description": "" }, { "id": "MIM:606824", "resource": "MIM", "url": "https://www.omim.org/entry/606824", "name": "Congenital glucose/galactose malabsorption", "description": "Congenital glucose/galactose malabsorption" } ], "evidence": [ { "id": "0011731", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011731" }, { "id": "606824", "database": "MIM", "url": "https://www.omim.org/entry/606824" } ] } ], "snv": [ { "evidence": [ { "id": "P13866", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13866" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 250, "end_pos": 250, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NTT->NTI).", "chr_id": "22", "chr_pos": "32084523", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T250", "disease": [ { "disease_id": "DOID:1115", "recommended_name": { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm." }, "synonyms": [ { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "connective and soft tissue neoplasm", "description": "" }, { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "tumor of soft tissue and skeleton", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P13866", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13866" }, { "id": "rs121912668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121912668" }, { "id": "rs121912668", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121912668" }, { "id": "rs121912668", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121912668" }, { "id": "2008213", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2008213" }, { "id": "8844006", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8844006" }, { "id": "9309206", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9309206" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 28, "end_pos": 28, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DIS->NIS).", "chr_id": "22", "chr_pos": "32043363", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D28", "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", "germline" ] }, { "evidence": [ { "id": "P13866", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13866" }, { "id": "rs1248943404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1248943404" }, { "id": "rs1248943404", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1248943404" }, { "id": "rs1248943404", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1248943404" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 365, "end_pos": 365, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NIA->NIT).", "chr_id": "22", "chr_pos": "32086291", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A365", "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", "germline" ] }, { "evidence": [ { "id": "rs1391296858", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1391296858" }, { "id": "rs1391296858", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1391296858" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 401, "end_pos": 401, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSA->NST).", "chr_id": "22", "chr_pos": "32091683", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A401", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781017057", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781017057" }, { "id": "rs781017057", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781017057" }, { "id": "rs781017057", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781017057" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 518, "end_pos": 518, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NCP->NCS).", "chr_id": "22", "chr_pos": "32102124", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P518", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757880856", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757880856" }, { "id": "rs757880856", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757880856" }, { "id": "rs757880856", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757880856" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 5, "end_pos": 5, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TWS->NWS).", "chr_id": "22", "chr_pos": "32043295", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T5", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs199553004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199553004" }, { "id": "rs199553004", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs199553004" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 619, "end_pos": 619, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KMT->NMT).", "chr_id": "22", "chr_pos": "32110075", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K619", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769667406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769667406" }, { "id": "rs769667406", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769667406" }, { "id": "rs769667406", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769667406" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 648, "end_pos": 648, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVN->NVS).", "chr_id": "22", "chr_pos": "32110161", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N648", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 204, "end_pos": 204, "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" }, { "database": "PubMed", "id": "34880492", "url": "https://glygen.org/publication/PubMed/34880492" } ] }, { "start_pos": 248, "end_pos": 248, "sequence_org": "N", "sequence_mut": "Q", "comment": "Loss of N-glycosylation.", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" }, { "database": "PubMed", "id": "8567640", "url": "https://glygen.org/publication/PubMed/8567640" } ] }, { "start_pos": 287, "end_pos": 287, "sequence_org": "T", "sequence_mut": "A", "comment": "Acquires D-mannose, D-fructose and L-sorbose transporter activity; when associated with L-83 and C-290.", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" }, { "database": "PubMed", "id": "35077764", "url": "https://glygen.org/publication/PubMed/35077764" } ] }, { "start_pos": 287, "end_pos": 287, "sequence_org": "T", "sequence_mut": "A", "comment": "Has normal D-glucose and D-galactose transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" }, { "database": "PubMed", "id": "34880492", "url": "https://glygen.org/publication/PubMed/34880492" }, { "database": "PubMed", "id": "35077764", "url": "https://glygen.org/publication/PubMed/35077764" } ] }, { "start_pos": 287, "end_pos": 287, "sequence_org": "T", "sequence_mut": "N", "comment": "Loss of D-glucose transporter activity. Has strict selectivity for D-galactose.", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" }, { "database": "PubMed", "id": "34880492", "url": "https://glygen.org/publication/PubMed/34880492" }, { "database": "PubMed", "id": "35077764", "url": "https://glygen.org/publication/PubMed/35077764" } ] }, { "start_pos": 287, "end_pos": 287, "sequence_org": "T", "sequence_mut": "S", "comment": "Has normal D-glucose and D-galactose transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" }, { "database": "PubMed", "id": "34880492", "url": "https://glygen.org/publication/PubMed/34880492" }, { "database": "PubMed", "id": "35077764", "url": "https://glygen.org/publication/PubMed/35077764" } ] }, { "start_pos": 290, "end_pos": 290, "sequence_org": "Y", "sequence_mut": "C", "comment": "Loss of D-galactose transporter activity. Has strict selectivity for D-glucose. Acquires D-mannose, D-fructose and L-sorbose transporter activity; when associated with A-287 and L-83.", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" }, { "database": "PubMed", "id": "35077764", "url": "https://glygen.org/publication/PubMed/35077764" } ] }, { "start_pos": 291, "end_pos": 291, "sequence_org": "W", "sequence_mut": "A", "comment": "Loss of D-glucose transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" }, { "database": "PubMed", "id": "34880492", "url": "https://glygen.org/publication/PubMed/34880492" } ] }, { "start_pos": 292, "end_pos": 292, "sequence_org": "C", "sequence_mut": "A", "comment": "Has no effect on water permeability.", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" }, { "database": "PubMed", "id": "26945065", "url": "https://glygen.org/publication/PubMed/26945065" } ] }, { "start_pos": 321, "end_pos": 321, "sequence_org": "K", "sequence_mut": "Q", "comment": "Acquires D-mannose and D-allose transporter activity comparable to glucose and galactose.", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" }, { "database": "PubMed", "id": "35077764", "url": "https://glygen.org/publication/PubMed/35077764" } ] }, { "start_pos": 363, "end_pos": 363, "sequence_org": "N", "sequence_mut": "A", "comment": "Loss of water permeation.", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" }, { "database": "PubMed", "id": "34880492", "url": "https://glygen.org/publication/PubMed/34880492" } ] }, { "start_pos": 396, "end_pos": 396, "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" }, { "database": "PubMed", "id": "34880492", "url": "https://glygen.org/publication/PubMed/34880492" } ] }, { "start_pos": 451, "end_pos": 451, "sequence_org": "Q", "sequence_mut": "A", "comment": "Strong reduction in water permeation.", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" }, { "database": "PubMed", "id": "34880492", "url": "https://glygen.org/publication/PubMed/34880492" } ] }, { "start_pos": 452, "end_pos": 452, "sequence_org": "L", "sequence_mut": "A", "comment": "Loss of water permeation.", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" }, { "database": "PubMed", "id": "34880492", "url": "https://glygen.org/publication/PubMed/34880492" } ] }, { "start_pos": 454, "end_pos": 454, "sequence_org": "D", "sequence_mut": "A", "comment": "Has no effect on water permeation.", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" }, { "database": "PubMed", "id": "34880492", "url": "https://glygen.org/publication/PubMed/34880492" } ] }, { "start_pos": 457, "end_pos": 457, "sequence_org": "Q", "sequence_mut": "A", "comment": "Loss of D-glucose transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" }, { "database": "PubMed", "id": "34880492", "url": "https://glygen.org/publication/PubMed/34880492" } ] }, { "start_pos": 457, "end_pos": 457, "sequence_org": "Q", "sequence_mut": "C", "comment": "Strong reduction in D-glucose transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" }, { "database": "PubMed", "id": "34880492", "url": "https://glygen.org/publication/PubMed/34880492" } ] }, { "start_pos": 460, "end_pos": 460, "sequence_org": "T", "sequence_mut": "A", "comment": "Loss of D-glucose transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" }, { "database": "PubMed", "id": "34880492", "url": "https://glygen.org/publication/PubMed/34880492" } ] }, { "start_pos": 641, "end_pos": 641, "sequence_org": "W", "sequence_mut": "A", "comment": "Slightly reduced D-glucose transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" }, { "database": "PubMed", "id": "34880492", "url": "https://glygen.org/publication/PubMed/34880492" } ] }, { "start_pos": 660, "end_pos": 661, "sequence_org": "HA", "sequence_mut": "WG", "comment": "Loss of D-glucose transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" }, { "database": "PubMed", "id": "34880492", "url": "https://glygen.org/publication/PubMed/34880492" } ] }, { "start_pos": 67, "end_pos": 67, "sequence_org": "W", "sequence_mut": "A", "comment": "Strong reduction in D-glucose transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" }, { "database": "PubMed", "id": "34880492", "url": "https://glygen.org/publication/PubMed/34880492" } ] }, { "start_pos": 77, "end_pos": 77, "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" }, { "database": "PubMed", "id": "34880492", "url": "https://glygen.org/publication/PubMed/34880492" } ] }, { "start_pos": 83, "end_pos": 83, "sequence_org": "H", "sequence_mut": "L", "comment": "Acquires D-mannose, D-fructose and L-sorbose transporter activity; when associated with A-287 and C-290.", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" }, { "database": "PubMed", "id": "35077764", "url": "https://glygen.org/publication/PubMed/35077764" } ] }, { "start_pos": 83, "end_pos": 83, "sequence_org": "H", "sequence_mut": "Q", "comment": "Loss of D-glucose transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" }, { "database": "PubMed", "id": "34880492", "url": "https://glygen.org/publication/PubMed/34880492" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "54.89", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000100170", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100170" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "61.52", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100170", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100170" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "59.93", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100170", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100170" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000100170", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100170" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "48.77", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000100170", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100170" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "85.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100170", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100170" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000100170", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100170" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "39.24", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000100170", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100170" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "43.27", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000100170", "url": 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"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": 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"description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "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, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "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": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P13866", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13866" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P13866", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13866" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P13866", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13866" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P13866", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13866" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P13866", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13866" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P13866", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13866" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P13866", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13866" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P13866", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13866" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P13866", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13866" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of 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"https://proconsortium.org/app/entry/PR:000055364", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_P13866", "url": "http://purl.obolibrary.org/obo/PR_P13866", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5656364", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5656364", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8981373", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8981373", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000334", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000334", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "70495", "url": "https://www.rhea-db.org/rhea/70495", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "70499", "url": "https://www.rhea-db.org/rhea/70499", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "P13866", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13866-1", "url": "https://www.uniprot.org/uniprot/P13866-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13866-2", "url": "https://www.uniprot.org/uniprot/P13866-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDSSTWSPKTTAVTRPVETHELIRNAADISIIVIYFVVVMAVGLWAMFSTNRGTVGGFFLAGRSMVWWPIGASLFASNIGSGHFVGLAGTGAASGIAIGGFEWNALVLVVVLGWLFVPIYIKAGVVTMPEYLRKRFGGQRIQVYLSLLSLLLYIFTKISADIFSGAIFINLALGLNLYLAIFLLLAITALYTITGGLAAVIYTDTLQTVIMLVGSLILTGFAFHEVGGYDAFMEKYMKAIPTIVSDGNTTFQEKCYTPRADSFHIFRDPLTGDLPWPGFIFGMSILTLWYWCTDQVIVQRCLSAKNMSHVKGGCILCGYLKLMPMFIMVMPGMISRILYTEKIACVVPSECEKYCGTKVGCTNIAYPTLVVELMPNGLRGLMLSVMLASLMSSLTSIFNSASTLFTMDIYAKVRKRASEKELMIAGRLFILVLIGISIAWVPIVQSAQSGQLFDYIQSITSYLGPPIAAVFLLAIFWKRVNEPGAFWGLILGLLIGISRMITEFAYGTGSCMEPSNCPTIICGVHYLYFAIILFAISFITIVVISLLTKPIPDVHLYRLCWSLRNSKEERIDLDAEEENIQEGPKETIEIETQVPEKKKGIFRRAYDLFCGLEQHGAPKMTEEEEKAMKMKMTDTSEKPLWRTVLNVNGIILVTVAVFCHAYFA", "length": 664, "header": "sp|P13866-1|SC5A1_HUMAN Isoform 1 of Sodium/glucose cotransporter 1 OS=Homo sapiens OX=9606 GN=SLC5A1 PE=1 SV=1 CANONICAL=P13866-1" }, "isoforms": [ { "isoform_ac": "P13866-1", "url": "", "sequence": { "sequence": "MDSSTWSPKTTAVTRPVETHELIRNAADISIIVIYFVVVMAVGLWAMFSTNRGTVGGFFLAGRSMVWWPIGASLFASNIGSGHFVGLAGTGAASGIAIGGFEWNALVLVVVLGWLFVPIYIKAGVVTMPEYLRKRFGGQRIQVYLSLLSLLLYIFTKISADIFSGAIFINLALGLNLYLAIFLLLAITALYTITGGLAAVIYTDTLQTVIMLVGSLILTGFAFHEVGGYDAFMEKYMKAIPTIVSDGNTTFQEKCYTPRADSFHIFRDPLTGDLPWPGFIFGMSILTLWYWCTDQVIVQRCLSAKNMSHVKGGCILCGYLKLMPMFIMVMPGMISRILYTEKIACVVPSECEKYCGTKVGCTNIAYPTLVVELMPNGLRGLMLSVMLASLMSSLTSIFNSASTLFTMDIYAKVRKRASEKELMIAGRLFILVLIGISIAWVPIVQSAQSGQLFDYIQSITSYLGPPIAAVFLLAIFWKRVNEPGAFWGLILGLLIGISRMITEFAYGTGSCMEPSNCPTIICGVHYLYFAIILFAISFITIVVISLLTKPIPDVHLYRLCWSLRNSKEERIDLDAEEENIQEGPKETIEIETQVPEKKKGIFRRAYDLFCGLEQHGAPKMTEEEEKAMKMKMTDTSEKPLWRTVLNVNGIILVTVAVFCHAYFA", "length": 664, "header": "sp|P13866-1|SC5A1_HUMAN Isoform 1 of Sodium/glucose cotransporter 1 OS=Homo sapiens OX=9606 GN=SLC5A1 PE=1 SV=1 CANONICAL=P13866-1" }, "locus": { "chromosome": "22", "start_pos": 32110210, "end_pos": 32043282, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000266088.9", "url": "https://www.ensembl.org/id/ENST00000266088.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000266088.4", "url": "https://www.ensembl.org/id/ENSP00000266088.4" } ] } }, { "isoform_ac": "P13866-2", "url": "", "sequence": { "sequence": "MPEYLRKRFGGQRIQVYLSLLSLLLYIFTKISADIFSGAIFINLALGLNLYLAIFLLLAITALYTITGGLAAVIYTDTLQTVIMLVGSLILTGFAFHEVGGYDAFMEKYMKAIPTIVSDGNTTFQEKCYTPRADSFHIFRDPLTGDLPWPGFIFGMSILTLWYWCTDQVIVQRCLSAKNMSHVKGGCILCGYLKLMPMFIMVMPGMISRILYTEKIACVVPSECEKYCGTKVGCTNIAYPTLVVELMPNGLRGLMLSVMLASLMSSLTSIFNSASTLFTMDIYAKVRKRASEKELMIAGRLFILVLIGISIAWVPIVQSAQSGQLFDYIQSITSYLGPPIAAVFLLAIFWKRVNEPGAFWGLILGLLIGISRMITEFAYGTGSCMEPSNCPTIICGVHYLYFAIILFAISFITIVVISLLTKPIPDVHLYRLCWSLRNSKEERIDLDAEEENIQEGPKETIEIETQVPEKKKGIFRRAYDLFCGLEQHGAPKMTEEEEKAMKMKMTDTSEKPLWRTVLNVNGIILVTVAVFCHAYFA", "length": 537, "header": "sp|P13866-2|SC5A1_HUMAN Isoform 2 of Sodium/glucose cotransporter 1 OS=Homo sapiens OX=9606 GN=SLC5A1 PE=1 SV=1 CANONICAL=P13866-1" }, "locus": { "chromosome": "22", "start_pos": 32110210, "end_pos": 32068505, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000543737.2", "url": "https://www.ensembl.org/id/ENST00000543737.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000444898.1", "url": "https://www.ensembl.org/id/ENSP00000444898.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 10, "start_aa": "Thr", "end_pos": 10, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr10", "evidence": [ { "id": "P13866", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 10, "start_aa": "Thr", "end_pos": 10, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr10", "evidence": [ { "id": "P13866", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G53434XO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 10, "start_aa": "Thr", "end_pos": 10, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr10", "evidence": [ { "id": "P13866", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 10, "start_aa": "Thr", "end_pos": 10, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr10", "evidence": [ { "id": "P13866", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G58001LT", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 10, "start_aa": "Thr", "end_pos": 10, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr10", "evidence": [ { "id": "P13866", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 11, "start_aa": "Thr", "end_pos": 11, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr11", "evidence": [ { "id": "P13866", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 14, "start_aa": "Thr", "end_pos": 14, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr14", "evidence": [ { "id": "P13866", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 14, "start_aa": "Thr", "end_pos": 14, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr14", "evidence": [ { "id": "P13866", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 248, "start_aa": "Asn", "end_pos": 248, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn248", "evidence": [ { "id": "P13866", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13866#ptm_processing" }, { "id": "8567640", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8567640" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P13866", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13866" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" } ] } ], "phosphorylation": [ { "start_pos": 418, "end_pos": 418, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P13866", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13866" }, { "database": "PubMed", "id": "29333720", "url": "https://glygen.org/publication/PubMed/29333720" } ], "site_lbl": "Ser418" }, { "start_pos": 587, "end_pos": 587, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "site_lbl": "Thr587" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported" ], "publication": [ { "title": "Probing the O-Glycoproteome of Gastric Cancer Cell Lines for Biomarker Discovery", "journal": "Molecular & Cellular Proteomics", "date": "2015", "authors": "Campos D., Freitas D., Gomes J., Magalh\u00e3es A., Steentoft C., Gomes C., Vester-Christensen M. 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": "P13866", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1074/mcp.M114.046862", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "title": "Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects.", "journal": "Biochimica et biophysica acta", "date": "1999", "authors": "Lam JT, Martin MG, Turk E, Hirayama BA, Bosshard NU, Steinmann B, Wright EM", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "reference": [ { "type": "PubMed", "id": "10036327", "url": "https://glygen.org/publication/PubMed/10036327" } ] }, { "title": "GLUT8, a novel member of the sugar transport facilitator family with glucose transport activity.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Doege H, Schurmann A, Bahrenberg G, Brauers A, Joost HG", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "10821868", "url": "https://glygen.org/publication/PubMed/10821868" } ] }, { "title": "Cloning and expression analysis of a novel member of the facilitative glucose transporter family, SLC2A9 (GLUT9).", "journal": "Genomics", "date": "2000", "authors": "Phay JE, Hussain HB, Moley JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "10860667", "url": "https://glygen.org/publication/PubMed/10860667" } ] }, { "title": "Activity and genomic organization of human glucose transporter 9 (GLUT9), a novel member of the family of sugar-transport facilitators predominantly expressed in brain and leucocytes.", "journal": "The Biochemical journal", "date": "2000", "authors": "Doege H, Bocianski A, Joost HG, Schurmann A", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "10970791", "url": "https://glygen.org/publication/PubMed/10970791" } ] }, { "title": "A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.", "journal": "Human genetics", "date": "1999", "authors": "Burwinkel B, Sanjad SA, Al-Sabban E, Al-Abbad A, Kilimann MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "10987651", "url": "https://glygen.org/publication/PubMed/10987651" } ] }, { "title": "Renal Na(+)-glucose cotransporters.", "journal": "American journal of physiology. Renal physiology", "date": "2001", "authors": "Wright EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "11133510", "url": "https://glygen.org/publication/PubMed/11133510" } ] }, { "title": "Identification and characterization of prostein, a novel prostate-specific protein.", "journal": "Cancer research", "date": "2001", "authors": "Xu J, Kalos M, Stolk JA, Zasloff EJ, Zhang X, Houghton RL, Filho AM, Nolasco M, Badaro R, Reed SG", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "11245466", "url": "https://glygen.org/publication/PubMed/11245466" } ] }, { "title": "Molecular cloning of a novel member of the GLUT family of transporters, SLC2a10 (GLUT10), localized on chromosome 20q13.1: a candidate gene for NIDDM susceptibility.", "journal": "Genomics", "date": "2001", "authors": "McVie-Wylie AJ, Lamson DR, Chen YT", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "11247674", "url": "https://glygen.org/publication/PubMed/11247674" } ] }, { "title": "A missense mutation in the Na(+)/glucose cotransporter gene SGLT1 in a patient with congenital glucose-galactose malabsorption: normal trafficking but inactivation of the mutant protein.", "journal": "Biochimica et biophysica acta", "date": "2001", "authors": "Kasahara M, Maeda M, Hayashi S, Mori Y, Abe T", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "reference": [ { "type": "PubMed", "id": "11406349", "url": "https://glygen.org/publication/PubMed/11406349" } ] }, { "title": "The predicted ATP-binding domains in the hexose transporter GLUT1 critically affect transporter activity.", "journal": "Biochemistry", "date": "2001", "authors": "Liu Q, Vera JC, Peng H, Golde DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "11425315", "url": "https://glygen.org/publication/PubMed/11425315" } ] }, { "title": "Characterization of human glucose transporter (GLUT) 11 (encoded by SLC2A11), a novel sugar-transport facilitator specifically expressed in heart and skeletal muscle.", "journal": "The Biochemical journal", "date": "2001", "authors": "Doege H, Bocianski A, Scheepers A, Axer H, Eckel J, Joost HG, Schurmann A", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "11583593", "url": "https://glygen.org/publication/PubMed/11583593" } ] }, { "title": "Structural analysis of the GLUT1 facilitative glucose transporter (review).", "journal": "Molecular membrane biology", "date": "2001", "authors": "Hruz PW, Mueckler MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "11681785", "url": "https://glygen.org/publication/PubMed/11681785" } ] }, { "title": "Molecular cloning of a member of the facilitative glucose transporter gene family GLUT11 (SLC2A11) and identification of transcription variants.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Sasaki T, Minoshima S, Shiohama A, Shintani A, Shimizu A, Asakawa S, Kawasaki K, Shimizu N", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "11741323", "url": "https://glygen.org/publication/PubMed/11741323" } ] }, { "title": "GLUT2 in pancreatic and extra-pancreatic gluco-detection (review).", "journal": "Molecular membrane biology", "date": "2001", "authors": "Thorens B", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "11780755", "url": "https://glygen.org/publication/PubMed/11780755" } ] }, { "title": "Identification of a novel glucose transporter-like protein-GLUT-12.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2002", "authors": "Rogers S, Macheda ML, Docherty SE, Carty MD, Henderson MA, Soeller WC, Gibbs EM, James DE, Best JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "11832379", "url": "https://glygen.org/publication/PubMed/11832379" } ] }, { "title": "Regulated transport of the glucose transporter GLUT4.", "journal": "Nature reviews. 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Transport.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Erokhova L, Horner A, Ollinger N, Siligan C, Pohl P", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "reference": [ { "type": "PubMed", "id": "26945065", "url": "https://glygen.org/publication/PubMed/26945065" } ] }, { "title": "A novel strategy for global mapping of O-GlcNAc proteins and peptides using selective enzymatic deglycosylation, HILIC enrichment and mass spectrometry identification.", "journal": "Talanta", "date": "2017", "authors": "Shen B, Zhang W, Shi Z, Tian F, Deng Y, Sun C, Wang G, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P13866", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13866" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] }, { "title": "Loss of Endometrial Sodium Glucose Cotransporter SGLT1 is Detrimental to Embryo Survival and Fetal Growth in Pregnancy.", "journal": "Scientific reports", "date": "2017", "authors": "Salker MS, Singh Y, Zeng N, Chen H, Zhang S, Umbach AT, Fakhri H, Kohlhofer U, Quintanilla-Martinez L, Durairaj RRP, Barros FSV, Vrljicak P, Ott S, Brucker SY, Wallwiener D, Vrhovac Madunic I, Breljak D, Sabolic I, Koepsell H, Brosens JJ, Lang F", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "reference": [ { "type": "PubMed", "id": "28974690", "url": "https://glygen.org/publication/PubMed/28974690" } ] }, { "title": "Degree of SGLT1 phosphorylation is associated with but does not determine segment-specific glucose transport features in the porcine small intestines.", "journal": "Physiological reports", "date": "2018", "authors": "Klinger S, Lange P, Brandt E, Hustedt K, Schroder B, Breves G, Herrmann J", "evidence": [ { "database": "iPTMnet", "id": "P13866", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13866" } ], "reference": [ { "type": "PubMed", "id": "29333720", "url": "https://glygen.org/publication/PubMed/29333720" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "P13866", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "Structure and mechanism of the SGLT family of glucose transporters.", "journal": "Nature", "date": "2022", "authors": "Han L, Qu Q, Aydin D, Panova O, Robertson MJ, Xu Y, Dror RO, Skiniotis G, Feng L", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "reference": [ { "type": "PubMed", "id": "34880492", "url": "https://glygen.org/publication/PubMed/34880492" } ] }, { "title": "Structural Basis of the Selective Sugar Transport in Sodium-Glucose Cotransporters.", "journal": "Journal of molecular biology", "date": "2022", "authors": "Kamitori K, Shirota M, Fujiwara Y", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "reference": [ { "type": "PubMed", "id": "35077764", "url": "https://glygen.org/publication/PubMed/35077764" } ] }, { "title": "A risk model of gene signatures for predicting platinum response and survival in ovarian cancer.", "journal": "Journal of ovarian research", "date": "2022", "authors": "Chen S, Wu Y, Wang S, Wu J, Wu X, Zheng Z", "evidence": [ { "database": "RefSeq", "id": "NP_000334", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000334" } ], "reference": [ { "type": "PubMed", "id": "35361267", "url": "https://glygen.org/publication/PubMed/35361267" } ] }, { "title": "Decreased expression of Glucagon-like peptide-1 receptor and Sodium-glucose co-transporter 2 in patients with proliferative diabetic retinopathy.", "journal": "Frontiers in endocrinology", "date": "2022", "authors": "Chen Hui, Zhang Xiongze, Liao Nanying, Ji Yuying, Mi Lan, Gan Yuhong, Su Yongyue, Wen Feng", "evidence": [ { "database": "RefSeq", "id": "NP_000334", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000334" } ], "reference": [ { "type": "PubMed", "id": "36465606", "url": "https://glygen.org/publication/PubMed/36465606" } ] }, { "title": "Obesity and overweight are linked to increased sodium-glucose cotransporter 1 and glucose transporter 5 levels in duodenum.", "journal": "Obesity (Silver Spring, Md.)", "date": "2023-03", "authors": "Fiorentino Teresa Vanessa, De Vito Francesca, Suraci Evelina, Marasco Raffaella, Hribal Marta Letizia, Luzza Francesco, Sesti Giorgio", "evidence": [ { "database": "RefSeq", "id": "NP_000334", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000334" } ], "reference": [ { "type": 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diagnosis", "date": "1996", "authors": "Martin MG, Turk E, Kerner C, Zabel B, Wirth S, Wright EM", "evidence": [ { "database": "dbSNP", "id": "rs121912668", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121912668" } ], "reference": [ { "type": "PubMed", "id": "8844006", "url": "https://glygen.org/publication/PubMed/8844006" } ] }, { "title": "Membrane topology motifs in the SGLT cotransporter family.", "journal": "The Journal of membrane biology", "date": "1997", "authors": "Turk E, Wright EM", "evidence": [ { "database": "dbSNP", "id": "rs121912668", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121912668" } ], "reference": [ { "type": "PubMed", "id": "9309206", "url": "https://glygen.org/publication/PubMed/9309206" } ] }, { "title": "Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.", "journal": "Nature genetics", "date": "1997", "authors": "Santer R, Schneppenheim R, Dombrowski A, 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transport", "id": "GO:0015798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015798", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "pmid": "" }, { "name": "galactose transmembrane transport", "id": "GO:0015757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015757", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "pmid": "" }, { "name": "transport across blood-brain barrier", "id": "GO:0150104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150104", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "pmid": "" }, { "name": "alpha-glucoside transport", "id": "GO:0000017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000017", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "pmid": "" }, { "name": "glucose import across plasma membrane", "id": "GO:0098708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098708", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "pmid": "" }, { "name": "pentose transmembrane transport", "id": "GO:0015750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015750", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "pmid": "" }, { "name": "fucose transmembrane transport", "id": "GO:0015756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015756", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "intracellular vesicle", "id": "GO:0097708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097708", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "pmid": "" }, { "name": "brush border membrane", "id": "GO:0031526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031526", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "pmid": "" }, { "name": "intracellular organelle", "id": "GO:0043229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043229", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 10, "go_terms": [ { "name": "myo-inositol:sodium symporter activity", "id": "GO:0005367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005367", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "pmid": "" }, { "name": "glucose:sodium symporter activity", "id": "GO:0005412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005412", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "pmid": "" }, { "name": "water transmembrane transporter activity", "id": "GO:0005372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005372", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "pmid": "" }, { "name": "glucose transmembrane transporter activity", "id": "GO:0005355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005355", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "pmid": "" }, { "name": "D-glucose transmembrane transporter activity", "id": "GO:0055056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055056", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "pmid": "" }, { "name": "galactose transmembrane transporter activity", "id": "GO:0005354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005354", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "pmid": "" }, { "name": "galactose:sodium symporter activity", "id": "GO:0015371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015371", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "pmid": "" }, { "name": "alpha-glucoside transmembrane transporter activity", "id": "GO:0015151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015151", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "pmid": "" }, { "name": "pentose transmembrane transporter activity", "id": "GO:0015146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015146", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "pmid": "" }, { "name": "fucose transmembrane transporter activity", "id": "GO:0015150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015150", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "sodium/glucose cotransporter 1 O-glycosylated 1 (human)", "definition": "A sodium/glucose cotransporter 1 (human) that has been O-glycosylated at the residue equivalent to Thr-10 of the amino acid sequence represented by UniProtKB:P13866-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P13866-1, Thr-10, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055359", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055359" } ] }, { "name": "sodium/glucose cotransporter 1 O-glycosylated 2 (human)", "definition": "A sodium/glucose cotransporter 1 (human) that has been O-glycosylated at the residue equivalent to Thr-10 of the amino acid sequence represented by UniProtKB:P13866-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P13866-1, Thr-10, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055360", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055360" } ] }, { "name": "sodium/glucose cotransporter 1 O-glycosylated 3 (human)", "definition": "A sodium/glucose cotransporter 1 (human) that has been O-glycosylated at the residue equivalent to Thr-10 of the amino acid sequence represented by UniProtKB:P13866-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P13866-1, Thr-10, MOD:00005~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055361", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055361" } ] }, { "name": "sodium/glucose cotransporter 1 O-glycosylated 4 (human)", "definition": "A sodium/glucose cotransporter 1 (human) that has been O-glycosylated at the residue equivalent to Thr-10 of the amino acid sequence represented by UniProtKB:P13866-1, in which the glycan composition is represented by GlyTouCan:G58001LT. Example: UniProtKB:P13866-1, Thr-10, MOD:00005~GNO:G58001LT. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055362", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055362" } ] }, { "name": "sodium/glucose cotransporter 1 O-glycosylated 5 (human)", "definition": "A sodium/glucose cotransporter 1 (human) that has been O-glycosylated at the residue equivalent to Thr-14 of the amino acid sequence represented by UniProtKB:P13866-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P13866-1, Thr-14, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055363", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055363" } ] }, { "name": "sodium/glucose cotransporter 1 O-glycosylated 6 (human)", "definition": "A sodium/glucose cotransporter 1 (human) that has been O-glycosylated at the residue equivalent to Thr-14 of the amino acid sequence represented by UniProtKB:P13866-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P13866-1, Thr-14, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055364", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055364" } ] } ], "site_annotation": [ { "start_pos": 248, "end_pos": 250, "annotation": "n_glycosylation_sequon" }, { "start_pos": 306, "end_pos": 308, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "N-glycosylation is not necessary for the cotransporter function.", "evidence": [ { "database": "UniProtKB", "id": "P13866", "url": "https://www.uniprot.org/uniprot/P13866" }, { "database": "PubMed", "id": "8567640", "url": "https://glygen.org/publication/PubMed/8567640" } ] } ], "interactions": [], "reactions": [ { "id": "70495", "name": "", "equation": "D-glucose(out) + 2 Na(+)(out) = D-glucose(in) + 2 Na(+)(in)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "70495", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/70495" } ] }, { "id": "70499", "name": "", "equation": "D-galactose(out) + 2 Na(+)(out) = D-galactose(in) + 2 Na(+)(in)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "70499", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/70499" } ] } ], "reaction_participants": [], "reaction_enzymes": [], "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": [ 248 ], "o_linked_sites": [ 10, 11, 14 ], "snv_sites": [ 5, 28, 250, 365, 401, 518, 619, 648 ], "glycation_sites": [], "phosphorylation_sites": [ 418, 587 ], "sequon_annotation_sites": [ { "start_pos": 248, "end_pos": 250 }, { "start_pos": 306, "end_pos": 308 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 6 }, { "field": "o_linked_glycan_sites", "count": 4 } ], "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": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_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" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 6 }, { "field": "o_linked_glycan_sites", "count": 4 } ], "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": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 8 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 72 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }