{ "uniprot_canonical_ac": "Q9Y2C5-1", "uniprot_ac": "Q9Y2C5", "uniprot_id": "S17A4_HUMAN", "mass": { "chemical_mass": 54055.0, "monoisotopic_mass": 54055.0 }, "refseq": { "ac": "NP_001273050", "name": "probable small intestine urate exporter isoform b", "summary": "Phosphate homeostasis is maintained by regulating intake, intestinal absorption, bone deposition and resorption, and renal excretion of phosphate. The central molecule in the control of phosphate excretion from the kidney is the sodium/phosphate cotransporter NPT1 (SLC17A1; MIM 182308), which is located in the renal proximal tubule. NPT1 uses the transmembrane electrochemical potential gradient of sodium to transport phosphate across the cell membrane. SLC17A4 is a similar sodium/phosphate cotransporter in the intestinal mucosa that plays an important role in the absorption of phosphate from the intestine (summary by Shibui et al., 1999 [PubMed 10319585]).[supplied by OMIM, Feb 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273050" }, "gene_names": [ { "name": "SLC17A4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9Y2C5", "id": "Q9Y2C5" }, { "name": "KAIA2138", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273050", "id": "NP_001273050" }, { "name": "SLC17A4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273050", "id": "NP_001273050" } ], "protein_names": [ { "name": "Probable small intestine urate exporter", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9Y2C5" }, { "name": "Na/PO4 cotransporter; solute carrier family 17 (sodium phosphate), member 4; probable small intestine urate exporter; putative small intestine sodium-dependent phosphate transport protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273050", "id": "NP_001273050" }, { "name": "Solute carrier family 17 member 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9Y2C5" }, { "name": "probable small intestine urate exporter isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273050", "id": "NP_001273050" } ], "function": [ { "annotation": "A prognostic signature consisting of metabolism-related genes and SLC17A4 serves as a potential biomarker of immunotherapeutic prediction in prostate cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001273050", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273050" }, { "database": "PubMed", "id": "36325340", "url": "https://glygen.org/publication/PubMed/36325340" } ] }, { "annotation": "Acts as a membrane potential-dependent organic anion transporter, the transport requires a low concentration of chloride ions (PubMed:22460716). Mediates chloride-dependent transport of urate (PubMed:22460716). Mediates sodium-independent high affinity transport of thyroid hormones including L-thyroxine (T4) and 3,3',5-triiodo-L-thyronine (T3) (PubMed:30367059, PubMed:34937426). Can actively transport inorganic phosphate into cells via Na(+) cotransport (PubMed:22460716).", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C5", "url": "https://www.uniprot.org/uniprot/Q9Y2C5#function" }, { "database": "PubMed", "id": "22460716", "url": "https://glygen.org/publication/PubMed/22460716" }, { "database": "PubMed", "id": "30367059", "url": "https://glygen.org/publication/PubMed/30367059" }, { "database": "PubMed", "id": "34937426", "url": "https://glygen.org/publication/PubMed/34937426" } ] }, { "annotation": "Functional Characterization of the Novel and Specific Thyroid Hormone Transporter SLC17A4.", "evidence": [ { "database": "RefSeq", "id": "NP_001273050", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273050" }, { "database": "PubMed", "id": "34937426", "url": "https://glygen.org/publication/PubMed/34937426" } ] }, { "annotation": "Phosphate homeostasis is maintained by regulating intake, intestinal absorption, bone deposition and resorption, and renal excretion of phosphate. The central molecule in the control of phosphate excretion from the kidney is the sodium/phosphate cotransporter NPT1 (SLC17A1; MIM 182308), which is located in the renal proximal tubule. NPT1 uses the transmembrane electrochemical potential gradient of sodium to transport phosphate across the cell membrane. SLC17A4 is a similar sodium/phosphate cotransporter in the intestinal mucosa that plays an important role in the absorption of phosphate from the intestine (summary by Shibui et al., 1999 [PubMed 10319585]).[supplied by OMIM, Feb 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001273050", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273050" } ] }, { "annotation": "SLC17A4 is an intestinal organic anion exporter that acts in delta-psi and Chloride dependent manners", "evidence": [ { "database": "RefSeq", "id": "NP_001273050", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273050" }, { "database": "PubMed", "id": "22460716", "url": "https://glygen.org/publication/PubMed/22460716" } ] }, { "annotation": "Thyroid hormone transporter (SLC17A4) single nucleotide polymorphism is associated with replicated free thyroxine (FT4) susceptibility loci in genome wide association study. Genetic variant SLC17A4-rs9356988 is associated with the 3,3',5-triiodothyronine (T3)/T4 ratio. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001273050", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273050" }, { "database": "PubMed", "id": "30367059", "url": "https://glygen.org/publication/PubMed/30367059" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "Q9Y2C5", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C5" }, { "id": "rs143424660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143424660" }, { "id": "rs143424660", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143424660" }, { "id": "rs143424660", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs143424660#frequency_tab" }, { "id": "rs143424660", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143424660" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 13, "end_pos": 13, "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": "6", "chr_pos": "25761999", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D13", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs774010672", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774010672" }, { "id": "rs774010672", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774010672" }, { "id": "rs774010672", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774010672" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 276, "end_pos": 276, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DCS->NCS).", "chr_id": "6", "chr_pos": "25773513", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D276", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C5", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C5" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 393, "end_pos": 393, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SMT->NMT).", "chr_id": "6", "chr_pos": "25776869", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S393", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1290721230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1290721230" }, { "id": "rs1290721230", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1290721230#frequency_tab" }, { "id": "rs1290721230", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1290721230" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 418, "end_pos": 418, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFL->NFS).", "chr_id": "6", "chr_pos": "25776944", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L418", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C5", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C5" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 49, "end_pos": 49, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NFS->NFL).", "chr_id": "6", "chr_pos": "25769039", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S49", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1439948220", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1439948220" }, { "id": "rs1439948220", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1439948220#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 56, "end_pos": 56, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->ILS).", "chr_id": "6", "chr_pos": "25769060", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N56", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1343450768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1343450768" }, { "id": "rs1343450768", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1343450768#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 58, "end_pos": 58, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NLI).", "chr_id": "6", "chr_pos": "25769066", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S58", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582693591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582693591" }, { "id": "rs1582693591", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582693591" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 68, "end_pos": 68, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->NNP).", "chr_id": "6", "chr_pos": "25769095", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T68", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs531810714", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs531810714" }, { "id": "rs531810714", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs531810714" }, { "id": "rs531810714", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs531810714" }, { "id": "rs531810714", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs531810714#frequency_tab" }, { "id": "rs531810714", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs531810714" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 75, "end_pos": 75, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->SAS).", "chr_id": "6", "chr_pos": "25769117", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "N75", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747491290", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747491290" }, { "id": "rs747491290", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747491290" }, { "id": "rs747491290", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747491290" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 76, "end_pos": 76, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->NPS).", "chr_id": "6", "chr_pos": "25769119", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A76", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760617525", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760617525" }, { "id": "rs760617525", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760617525" }, { "id": "rs760617525", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760617525" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 90, "end_pos": 90, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->KET).", "chr_id": "6", "chr_pos": "25769163", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N90", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 66, "end_pos": 66, "sequence_org": "N", "sequence_mut": "A", "comment": "Loss of glycosylation and significant reduction in the tranport of thyroid hormones T3 and T4; when associated with A-75 and A-90.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C5", "url": "https://www.uniprot.org/uniprot/Q9Y2C5" }, { "database": "PubMed", "id": "34937426", "url": "https://glygen.org/publication/PubMed/34937426" } ] }, { "start_pos": 75, "end_pos": 75, "sequence_org": "N", "sequence_mut": "A", "comment": "Loss of glycosylation and significant reduction in the tranport of thyroid hormones T3 and T4; when associated with A-66 and A-90.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C5", "url": "https://www.uniprot.org/uniprot/Q9Y2C5" }, { "database": "PubMed", "id": "34937426", "url": "https://glygen.org/publication/PubMed/34937426" } ] }, { "start_pos": 90, "end_pos": 90, "sequence_org": "N", "sequence_mut": "A", "comment": "Loss of glycosylation and significant reduction in the tranport of thyroid hormones T3 and T4; when associated with A-75 and A-90.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C5", "url": "https://www.uniprot.org/uniprot/Q9Y2C5" }, { "database": "PubMed", "id": "34937426", "url": "https://glygen.org/publication/PubMed/34937426" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "63.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000146039", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146039" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000146039", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146039" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "50.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000146039", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146039" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "68.64", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000146039", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146039" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "43.68", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000146039", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146039" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "91.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000146039", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146039" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "64.4", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000146039", "url": 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"http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q9Y2C5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9Y2C5" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": 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"" }, { "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": 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": 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"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": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q9Y2C5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9Y2C5" } ], "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": "Q9Y2C5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9Y2C5" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "Q9Y2C5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9Y2C5" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10050", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "604216", "url": "http://www.omim.org/entry/604216", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q9Y2C5", "url": "https://www.nextprot.org/entry/NX_Q9Y2C5", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "IGWPYIF", "url": "https://omabrowser.org/oma/group/IGWPYIF/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2685946at2759", "url": "http://www.orthodb.org/?query=2685946at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11662", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11662", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11662:SF284", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11662:SF284", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF07690", "url": "http://pfam.xfam.org/family/PF07690", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q9Y2C5", "url": "https://pharos.nih.gov/targets/Q9Y2C5", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q9Y2C5", "url": "http://purl.obolibrary.org/obo/PR_Q9Y2C5", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001273050", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273050", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "71255", "url": "https://www.rhea-db.org/rhea/71255", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "71811", "url": "https://www.rhea-db.org/rhea/71811", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "71819", "url": "https://www.rhea-db.org/rhea/71819", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "72319", "url": "https://www.rhea-db.org/rhea/72319", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "Q9Y2C5", "url": "https://www.uniprot.org/uniprot/Q9Y2C5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9Y2C5-1", "url": "https://www.uniprot.org/uniprot/Q9Y2C5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9Y2C5-2", "url": "https://www.uniprot.org/uniprot/Q9Y2C5-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9Y2C5-3", "url": "https://www.uniprot.org/uniprot/Q9Y2C5-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9Y2C5-4", "url": "https://www.uniprot.org/uniprot/Q9Y2C5-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSTGPDVKATVGDISSDGNLNVAQEECSRKGFCSVRHGLALILQLCNFSIYTQQMNLSIAIPAMVNNTAPPSQPNASTERPSTDSQGYWNETLKEFKAMAPAYDWSPEIQGIILSSLNYGSFLAPIPSGYVAGIFGAKYVVGAGLFISSFLTLFIPLAANAGVALLIVLRIVQGIAQVMVLTGQYSIWVKWAPPLERSQLTTIAGSGSMLGSFIVLLAGGLLCQTIGWPYVFYIFGGIGCACCPLWFPLIYDDPVNHPFISAGEKRYIVCSLAQQDCSPGWSLPIRAMIKSLPLWAILVSYFCEYWLFYTIMAYTPTYISSVLQANLRDSGILSALPFVVGCICIILGGLLADFLLSRKILRLITIRKLFTAIGVLFPSVILVSLPWVRSSHSMTMTFLVLSSAISSFCESGALVNFLDIAPRYTGFLKGLLQVFAHIAGAISPTAAGFFISQDSEFGWRNVFLLSAAVNISGLVFYLIFGRADVQDWAKEQTFTHL", "length": 497, "header": "sp|Q9Y2C5-1|S17A4_HUMAN Isoform 1 of Probable small intestine urate exporter OS=Homo sapiens OX=9606 GN=SLC17A4 PE=1 SV=1 CANONICAL=Q9Y2C5-1" }, "isoforms": [ { "isoform_ac": "Q9Y2C5-1", "url": "", "sequence": { "sequence": "MSTGPDVKATVGDISSDGNLNVAQEECSRKGFCSVRHGLALILQLCNFSIYTQQMNLSIAIPAMVNNTAPPSQPNASTERPSTDSQGYWNETLKEFKAMAPAYDWSPEIQGIILSSLNYGSFLAPIPSGYVAGIFGAKYVVGAGLFISSFLTLFIPLAANAGVALLIVLRIVQGIAQVMVLTGQYSIWVKWAPPLERSQLTTIAGSGSMLGSFIVLLAGGLLCQTIGWPYVFYIFGGIGCACCPLWFPLIYDDPVNHPFISAGEKRYIVCSLAQQDCSPGWSLPIRAMIKSLPLWAILVSYFCEYWLFYTIMAYTPTYISSVLQANLRDSGILSALPFVVGCICIILGGLLADFLLSRKILRLITIRKLFTAIGVLFPSVILVSLPWVRSSHSMTMTFLVLSSAISSFCESGALVNFLDIAPRYTGFLKGLLQVFAHIAGAISPTAAGFFISQDSEFGWRNVFLLSAAVNISGLVFYLIFGRADVQDWAKEQTFTHL", "length": 497, "header": "sp|Q9Y2C5-1|S17A4_HUMAN Isoform 1 of Probable small intestine urate exporter OS=Homo sapiens OX=9606 GN=SLC17A4 PE=1 SV=1 CANONICAL=Q9Y2C5-1" }, "locus": { "chromosome": "6", "start_pos": 25779185, "end_pos": 25761963, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000377905.9", "url": "https://www.ensembl.org/id/ENST00000377905.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000367137.4", "url": "https://www.ensembl.org/id/ENSP00000367137.4" } ] } }, { "isoform_ac": "Q9Y2C5-2", "url": "", "sequence": { "sequence": "MNLSIAIPAMVNNTAPPSQPNASTERPSTDSQGYWNETLKEFKAMAPAYDWSPEIQGIILSSLNYGSFLAPIPSGYVAGIFGAKYVVGAGLFISSFLTLFIPLAANAGVALLIVLRIVQGIAQVMVLTGQYSIWVKWAPPLERSQLTTIAGSGSMLGSFIVLLAGGLLCQTIGWPYVFYIFGGIGCACCPLWFPLIYDDPVNHPFISAGEKRYIVCSLAQQDCSPGWSLPIRAMIKSLPLWAILVSYFCEYWLFYTIMAYTPTYISSVLQANLRDSGILSALPFVVGCICIILGGLLADFLLSRKILRLITIRKLFTAIGVLFPSVILVSLPWVRSSHSMTMTFLVLSSAISSFCESGALVNFLDIAPRYTGFLKGLLQVFAHIAGAISPTAAGFFISQDSEFGWRNVFLLSAAVNISGLVFYLIFGRADVQDWAKEQTFTHL", "length": 443, "header": "sp|Q9Y2C5-2|S17A4_HUMAN Isoform 2 of Probable small intestine urate exporter OS=Homo sapiens OX=9606 GN=SLC17A4 PE=1 SV=1 CANONICAL=Q9Y2C5-1" }, "locus": { "chromosome": "6", "start_pos": 25779185, "end_pos": 25769056, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000439485.6", "url": "https://www.ensembl.org/id/ENST00000439485.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000391345.3", "url": "https://www.ensembl.org/id/ENSP00000391345.3" } ] } }, { "isoform_ac": "Q9Y2C5-3", "url": "", "sequence": { "sequence": "MSTGPDVKATVGDISSDGNLNVAQEECSRKGFCSVRHGLALILQLCNFSIYTQQMNLSIAIPAMVNNTAPPSQPNASTERPSTDSQGYWNETLKEFKAMSGILSALPFVVGCICIILGGLLADFLLSRKILRLITIRKLFTAIGVLFPSVILVSLPWVRSSHSMTMTFLVLSSAISSFCESGALVNFLDIAPRYTGFLKGLLQVFAHIAGAISPTAAGFFISQDSEFGWRNVFLLSAAVNISGLVFYLIFGRADVQDWAKEQTFTHL", "length": 267, "header": "sp|Q9Y2C5-3|S17A4_HUMAN Isoform 3 of Probable small intestine urate exporter OS=Homo sapiens OX=9606 GN=SLC17A4 PE=1 SV=1 CANONICAL=Q9Y2C5-1" }, "locus": {} }, { "isoform_ac": "Q9Y2C5-4", "url": "", "sequence": { "sequence": "MNLSIAIPAMVNNTAPPSQPNASTERPSTDSQGYWNETLKEFKAMDCSPGWSLPIRAMIKSLPLWAILVSYFCEYWLFYTIMAYTPTYISSVLQANLRDSGILSALPFVVGCICIILGGLLADFLLSRKILRLITIRKLFTAIGKGETGHRGERGKLRAAFSLLCVCPPTPGVLFPSVILVSLPWVRSSHSMTMTFLVLSSAISSFCESGALVNFLDIAPR", "length": 221, "header": "sp|Q9Y2C5-4|S17A4_HUMAN Isoform 4 of Probable small intestine urate exporter OS=Homo sapiens OX=9606 GN=SLC17A4 PE=1 SV=1 CANONICAL=Q9Y2C5-1" }, "locus": { "chromosome": "6", "start_pos": 25776960, "end_pos": 25769056, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397076.2", "url": "https://www.ensembl.org/id/ENST00000397076.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000380266.2", "url": "https://www.ensembl.org/id/ENSP00000380266.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 47, "start_aa": "Asn", "end_pos": 47, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn47", "evidence": [ { "id": "Q9Y2C5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2C5#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 56, "start_aa": "Asn", "end_pos": 56, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn56", "evidence": [ { "id": "Q9Y2C5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2C5#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 66, "start_aa": "Asn", "end_pos": 66, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn66", "evidence": [ { "id": "Q9Y2C5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2C5#ptm_processing" }, { "id": "34937426", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34937426" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 75, "start_aa": "Asn", "end_pos": 75, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn75", "evidence": [ { "id": "Q9Y2C5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2C5#ptm_processing" }, { "id": "34937426", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34937426" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 90, "start_aa": "Asn", "end_pos": 90, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn90", "evidence": [ { "id": "Q9Y2C5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2C5#ptm_processing" }, { "id": "34937426", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34937426" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported", "glycoprotein_predicted" ], "publication": [ { "title": "Isolation and chromosomal mapping of a novel human gene showing homology to Na+/PO4 cotransporter.", "journal": "J. Hum. Genet.", "date": "1999", "authors": "Seki N., Sugano S., Suzuki Y., Tsunoda T., Shibui A., Sugane K.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C5", "url": "https://www.uniprot.org/uniprot/Q9Y2C5" } ], "reference": [ { "type": "PubMed", "id": "10319585", "url": "https://glygen.org/publication/PubMed/10319585" } ] }, { "title": "A Na+-phosphate cotransporter homologue (SLC17A4 protein) is an intestinal organic anion exporter.", "journal": "Am. J. Physiol.", "date": "2012", "authors": "Togawa N, Miyaji T, Izawa S, Omote H, Moriyama Y", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C5", "url": "https://www.uniprot.org/uniprot/Q9Y2C5" }, { "database": "RefSeq", "id": "NP_001273050", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273050" } ], "reference": [ { "type": "PubMed", "id": "22460716", "url": "https://glygen.org/publication/PubMed/22460716" } ] }, { "title": "Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.", "journal": "Nat. Commun.", "date": "2018", "authors": "Teumer A, Chaker L, Groeneweg S, Li Y, Di Munno C, Barbieri C, Schultheiss UT, Traglia M, Ahluwalia TS, Akiyama M, Appel EVR, Arking DE, Arnold A, Astrup A, Beekman M, Beilby JP, Bekaert S, Boerwinkle E, Brown SJ, De Buyzere M, Campbell PJ, Ceresini G, Cerqueira C, Cucca F, Deary IJ, Deelen J, Eckardt KU, Ekici AB, Eriksson JG, Ferrrucci L, Fiers T, Fiorillo E, Ford I, Fox CS, Fuchsberger C, Galesloot TE, Gieger C, Gogele M, De Grandi A, Grarup N, Greiser KH, Haljas K, Hansen T, Harris SE, van Heemst D, den Heijer M, Hicks AA, den Hollander W, Homuth G, Hui J, Ikram MA, Ittermann T, Jensen RA, Jing J, Jukema JW, Kajantie E, Kamatani Y, Kasbohm E, Kaufman JM, Kiemeney LA, Kloppenburg M, Kronenberg F, Kubo M, Lahti J, Lapauw B, Li S, Liewald DCM, Lim EM, Linneberg A, Marina M, Mascalzoni D, Matsuda K, Medenwald D, Meisinger C, Meulenbelt I, De Meyer T, Meyer Zu Schwabedissen HE, Mikolajczyk R, Moed M, Netea-Maier RT, Nolte IM, Okada Y, Pala M, Pattaro C, Pedersen O, Petersmann A, Porcu E, Postmus I, Pramstaller PP, Psaty BM, Ramos YFM, Rawal R, Redmond P, Richards JB, Rietzschel ER, Rivadeneira F, Roef G, Rotter JI, Sala CF, Schlessinger D, Selvin E, Slagboom PE, Soranzo N, Sorensen TIA, Spector TD, Starr JM, Stott DJ, Taes Y, Taliun D, Tanaka T, Thuesen B, Tiller D, Toniolo D, Uitterlinden AG, Visser WE, Walsh JP, Wilson SG, Wolffenbuttel BHR, Yang Q, Zheng HF, Cappola A, Peeters RP, Naitza S, Volzke H, Sanna S, Kottgen A, Visser TJ, Medici M", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C5", "url": "https://www.uniprot.org/uniprot/Q9Y2C5" }, { "database": "RefSeq", "id": "NP_001273050", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273050" } ], "reference": [ { "type": "PubMed", "id": "30367059", "url": "https://glygen.org/publication/PubMed/30367059" } ] }, { "title": "Functional Characterization of the Novel and Specific Thyroid Hormone Transporter SLC17A4.", "journal": "Thyroid : official journal of the 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