{ "uniprot_canonical_ac": "O60779-1", "uniprot_ac": "O60779", "uniprot_id": "S19A2_HUMAN", "mass": { "chemical_mass": 55400.0, "monoisotopic_mass": 55400.0 }, "refseq": { "ac": "NP_001306596", "name": "thiamine transporter 1 isoform 2", "summary": "This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306596" }, "gene_names": [ { "name": "SLC19A2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60779", "id": "O60779" }, { "name": "SLC19A2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306596", "id": "NP_001306596" }, { "name": "TC1; THMD1; THT1; THTR1; TRMA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306596", "id": "NP_001306596" }, { "name": "THT1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60779", "id": "O60779" }, { "name": "TRMA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60779", "id": "O60779" }, { "name": "hCG_38014", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60779", "id": "O60779" } ], "protein_names": [ { "name": "Thiamine transporter 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60779" }, { "name": "Solute carrier family 19 member 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60779" }, { "name": "TC1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60779" }, { "name": "ThTr-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60779" }, { "name": "ThTr1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60779" }, { "name": "Thiamine carrier 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60779" }, { "name": "reduced folate carrier protein (RFC) like; high affinity thiamine transporter; thiamine transporter 1; thTr-1; solute carrier family 19 (thiamine transporter), member 2; thiamine-responsive megaloblastic anaemia", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306596", "id": "NP_001306596" }, { "name": "thiamine transporter 1 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306596", "id": "NP_001306596" } ], "function": [ { "annotation": "High-affinity transporter for the intake of thiamine (PubMed:10542220, PubMed:10391222, PubMed:33008889, PubMed:35512554, PubMed:35724964). Mediates H(+)-dependent pyridoxine transport (PubMed:33008889, PubMed:35512554, PubMed:35724964).", "evidence": [ { "database": "UniProtKB", "id": "O60779", "url": "https://www.uniprot.org/uniprot/O60779#function" }, { "database": "PubMed", "id": "10542220", "url": "https://glygen.org/publication/PubMed/10542220" }, { "database": "PubMed", "id": "10391222", "url": "https://glygen.org/publication/PubMed/10391222" }, { "database": "PubMed", "id": "35724964", "url": "https://glygen.org/publication/PubMed/35724964" }, { "database": "PubMed", "id": "35512554", "url": "https://glygen.org/publication/PubMed/35512554" }, { "database": "PubMed", "id": "33008889", "url": "https://glygen.org/publication/PubMed/33008889" } ] }, { "annotation": "High-affinity transporter for the intake of thiamine.", "evidence": [ { "database": "UniProtKB", "id": "A0A2R8Y5B5", "url": "https://www.uniprot.org/uniprot/A0A2R8Y5B5#function" }, { "database": "UniProtKB", "id": "PIRNR028739", "url": "https://www.uniprot.org/uniprot/PIRNR028739#function" } ] }, { "annotation": "PH-dependent pyridoxine transport by SLC19A2 and SLC19A3: Implications for absorption in acidic microclimates.", "evidence": [ { "database": "RefSeq", "id": "NP_001306596", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306596" }, { "database": "PubMed", "id": "33008889", "url": "https://glygen.org/publication/PubMed/33008889" } ] }, { "annotation": "The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001306596", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306596" }, { "database": "PubMed", "id": "33649974", "url": "https://glygen.org/publication/PubMed/33649974" } ] }, { "annotation": "This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001306596", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306596" } ] }, { "annotation": "Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia.", "evidence": [ { "database": "RefSeq", "id": "NP_001306596", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306596" }, { "database": "PubMed", "id": "35686496", "url": "https://glygen.org/publication/PubMed/35686496" } ] } ], "disease": [ { "disease_id": "DOID:0090117", "recommended_name": { "id": "DOID:0090117", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090117", "name": "thiamine-responsive megaloblastic anemia syndrome", "description": "A syndrome that is characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24." }, "synonyms": [ { "id": "DOID:0090117", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090117", "name": "thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness", "description": "" }, { "id": "DOID:0090117", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090117", "name": "Rogers syndrome", "description": "" }, { "id": "DOID:0090117", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090117", "name": "THMD1", "description": "" }, { "id": "DOID:0090117", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090117", "name": "TRMA", "description": "" }, { "id": "DOID:0090117", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090117", "name": "thiamine-responsive 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"id": "MONDO:0009575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009575", "name": "thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus and deafness type)", "description": "" }, { "id": "MONDO:0009575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009575", "name": "thiamine-responsive anaemia syndrome", "description": "" }, { "id": "MONDO:0009575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009575", "name": "thiamine-responsive anemia syndrome", "description": "" }, { "id": "MONDO:0009575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009575", "name": "thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness", "description": "" }, { "id": "MONDO:0009575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009575", "name": "thiamine-responsive megaloblastic anemia syndrome", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O60779", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60779" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60779" } ], "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": "O60779", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60779" } ], "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": 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Genet.", "date": "1999", "authors": "Diaz GA, Banikazemi M, Oishi K, Desnick RJ, Gelb BD", "evidence": [ { "database": "UniProtKB", "id": "O60779", "url": "https://www.uniprot.org/uniprot/O60779" }, { "database": "Reactome", "id": "R-HSA-196819", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196819" } ], "reference": [ { "type": "PubMed", "id": "10391223", "url": "https://glygen.org/publication/PubMed/10391223" } ] }, { "title": "Cloning of the human thiamine transporter, a member of the folate transporter family.", "journal": "The Journal of biological chemistry", "date": "1999-11-05", "authors": "Dutta B, Huang W, Molero M, Kekuda R, Leibach F H, Devoe L D, Ganapathy V, Prasad P D", "evidence": [ { "database": "UniProtKB", "id": "O60779", "url": "https://www.uniprot.org/uniprot/O60779" } ], "reference": [ { "type": "PubMed", "id": "10542220", "url": "https://glygen.org/publication/PubMed/10542220" } ] }, { "title": "The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.", "journal": "Human mutation", "date": "2000", "authors": "Raz T, Labay V, Baron D, Szargel R, Anbinder Y, Barrett T, Rabl W, Viana MB, Mandel H, Baruchel A, Cayuela JM, Cohen N", "evidence": [ { "database": "UniProtKB", "id": "O60779", "url": "https://www.uniprot.org/uniprot/O60779" } ], "reference": [ { "type": "PubMed", "id": "10874303", "url": "https://glygen.org/publication/PubMed/10874303" } ] }, { "title": "Isolation and characterization of a human thiamine pyrophosphokinase cDNA.", "journal": "Biochimica et biophysica acta", "date": "2001", "authors": "Nosaka K, Onozuka M, Kakazu N, Hibi S, Nishimura H, Nishino H, Abe T", "evidence": [ { "database": "Reactome", "id": "R-HSA-196819", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196819" } ], "reference": [ { "type": "PubMed", "id": "11342111", "url": "https://glygen.org/publication/PubMed/11342111" } ] }, { "title": "Molecular cloning of human thiamin pyrophosphokinase.", "journal": "Biochimica et biophysica acta", "date": "2001", "authors": "Zhao R, Gao F, Goldman ID", "evidence": [ { "database": "Reactome", "id": "R-HSA-196819", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196819" } ], "reference": [ { "type": "PubMed", "id": "11342117", "url": "https://glygen.org/publication/PubMed/11342117" } ] }, { "title": "Molecular characterization of a specific thiamine triphosphatase widely expressed in mammalian tissues.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Lakaye B, Makarchikov AF, Antunes AF, Zorzi W, Coumans B, De Pauw E, Wins P, Grisar T, Bettendorff L", "evidence": [ { "database": "Reactome", "id": "R-HSA-196819", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196819" } ], "reference": [ { "type": "PubMed", "id": "11827967", "url": "https://glygen.org/publication/PubMed/11827967" } ] }, { "title": "Functional role of specific amino acid residues in human thiamine transporter SLC19A2: mutational analysis.", "journal": "American journal of physiology. 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absorption in acidic microclimates.", "journal": "The Journal of biological chemistry", "date": "2020", "authors": "Yamashiro T, Yasujima T, Said HM, Yuasa H", "evidence": [ { "database": "UniProtKB", "id": "O60779", "url": "https://www.uniprot.org/uniprot/O60779" }, { "database": "RefSeq", "id": "NP_001306596", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306596" } ], "reference": [ { "type": "PubMed", "id": "33008889", "url": "https://glygen.org/publication/PubMed/33008889" } ] }, { "title": "The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2.", "journal": "The AAPS journal", "date": "2021", "authors": "Enogieru OJ, Koleske ML, Vora B, Ngo H, Yee SW, Chatad D, Sirota M, Giacomini KM", "evidence": [ { "database": "RefSeq", "id": "NP_001306596", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306596" } ], "reference": [ { "type": "PubMed", "id": "33649974", "url": "https://glygen.org/publication/PubMed/33649974" } ] }, { "title": 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