{ "uniprot_canonical_ac": "A0PJK1-1", "uniprot_ac": "A0PJK1", "uniprot_id": "SC5AA_HUMAN", "mass": { "chemical_mass": 64342.0, "monoisotopic_mass": 64342.0 }, "refseq": { "ac": "NP_001035915", "name": "sodium/mannose cotransporter SLC5A10 isoform 2", "summary": "This gene is a member of the sodium/glucose transporter family. Members of this family are sodium-dependent transporters and can be divided into two subfamilies based on sequence homology, one that co-transports sugars and the second that transports molecules such as ascorbate, choline, iodide, lipoate, monocaroboxylates, and pantothenate. The protein encoded by this gene has the highest affinity for mannose and has been reported to be most highly expressed in the kidney. This protein may function as a kidney-specific, sodium-dependent mannose and fructose co-transporter. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915" }, "gene_names": [ { "name": "SLC5A10", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0PJK1", "id": "A0PJK1" }, { "name": "SGLT-5; SGLT5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915", "id": "NP_001035915" }, { "name": "SGLT5", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0PJK1", "id": "A0PJK1" }, { "name": "SLC5A10", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915", "id": "NP_001035915" } ], "protein_names": [ { "name": "Sodium/mannose cotransporter SLC5A10", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A0PJK1" }, { "name": "Na(+)/glucose cotransporter 5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0PJK1" }, { "name": "Sodium/glucose cotransporter 5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0PJK1" }, { "name": "Solute carrier family 5 member 10", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0PJK1" }, { "name": "sodium/glucose cotransporter 5; Na(+)/glucose cotransporter 5; solute carrier family 5 (sodium/sugar cotransporter), member 10; solute carrier family 5 (sodium/glucose cotransporter), member 10; sodium/mannose cotransporter SLC5A10", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915", "id": "NP_001035915" }, { "name": "sodium/mannose cotransporter SLC5A10 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915", "id": "NP_001035915" } ], "function": [ { "annotation": "Appears to have no transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "A0PJK1", "url": "https://www.uniprot.org/uniprot/A0PJK1#function" }, { "database": "PubMed", "id": "22212718", "url": "https://glygen.org/publication/PubMed/22212718" } ] }, { "annotation": "Electrogenic Na+-coupled sugar symporter that actively transports D-mannose or D-fructose at the plasma membrane, with a Na+ to sugar coupling ratio of 1:1. Transporter activity is driven by a transmembrane Na+ electrochemical gradient set by the Na+/K+ pump. Exclusively recognizes sugar substrates having a pyranose ring with an axial hydroxyl group on carbon 2 (PubMed:24573086, PubMed:22212718, PubMed:23451068). Has likely evolved to enable renal reabsorption of D-mannose, an important constituent of oligosaccharide chains of glycoproteins. Contributes to dietary D-fructose reabsorption from glomerular filtrate across the brush border of the kidney (PubMed:22212718, PubMed:23451068).", "evidence": [ { "database": "UniProtKB", "id": "A0PJK1", "url": "https://www.uniprot.org/uniprot/A0PJK1#function" }, { "database": "PubMed", "id": "22212718", "url": "https://glygen.org/publication/PubMed/22212718" }, { "database": "PubMed", "id": "24573086", "url": "https://glygen.org/publication/PubMed/24573086" }, { "database": "PubMed", "id": "23451068", "url": "https://glygen.org/publication/PubMed/23451068" } ] }, { "annotation": "HSGLT5 is a sodium/mannose transporter that is blocked by phlorizin. Li(+) and H(+) ions were also able to drive mannose transport, and transport was electrogenic.", "evidence": [ { "database": "RefSeq", "id": "NP_001035915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915" }, { "database": "PubMed", "id": "24573086", "url": "https://glygen.org/publication/PubMed/24573086" } ] }, { "annotation": "Rare variants in SLC5A10 are associated with serum 1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in Communities (ARIC) Study. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001035915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915" }, { "database": "PubMed", "id": "30976018", "url": "https://glygen.org/publication/PubMed/30976018" } ] }, { "annotation": "Results show that rs2257609 C>T is located in the intron region of SLC5A10 and is significantly associated with worse overall and disease-free survival of non-small-cell lung cancer (NSCLC) patients. The rs2257609 C>T variant does not affect the expression of SLC5A10 mRNA, but alters the mRNA expression and promoter activity of DRG2.", "evidence": [ { "database": "RefSeq", "id": "NP_001035915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915" }, { "database": "PubMed", "id": "30281872", "url": "https://glygen.org/publication/PubMed/30281872" } ] }, { "annotation": "SGLT-5 as a kidney mannose transporter", "evidence": [ { "database": "RefSeq", "id": "NP_001035915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915" }, { "database": "PubMed", "id": "22212718", "url": "https://glygen.org/publication/PubMed/22212718" } ] }, { "annotation": "SGLT5 is the renal transporter for 1,5-anhydroglucitol, a major player in two rare forms of neutropenia. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001035915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915" }, { "database": "PubMed", "id": "37594549", "url": "https://glygen.org/publication/PubMed/37594549" } ] }, { "annotation": "This gene is a member of the sodium/glucose transporter family. Members of this family are sodium-dependent transporters and can be divided into two subfamilies based on sequence homology, one that co-transports sugars and the second that transports molecules such as ascorbate, choline, iodide, lipoate, monocaroboxylates, and pantothenate. The protein encoded by this gene has the highest affinity for mannose and has been reported to be most highly expressed in the kidney. This protein may function as a kidney-specific, sodium-dependent mannose and fructose co-transporter. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_001035915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs766605517", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766605517" }, { "id": "rs766605517", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766605517" }, { "id": "rs766605517", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766605517#frequency_tab" }, { "id": "rs766605517", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766605517" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 136, "end_pos": 136, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YLS->NLS).", "chr_id": "17", "chr_pos": "18960605", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y136", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201844800", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201844800" }, { "id": "rs201844800", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201844800" }, { "id": "rs201844800", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201844800" }, { "id": "rs201844800", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201844800#frequency_tab" }, { "id": "rs201844800", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201844800" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 209, "end_pos": 209, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (ILT->NLT).", "chr_id": "17", "chr_pos": "18969408", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000799", "site_lbl": "I209", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs370149434", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370149434" }, { "id": "rs370149434", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370149434" }, { "id": "rs370149434", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370149434#frequency_tab" }, { "id": "rs370149434", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370149434" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 352, "end_pos": 352, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIA->NIT).", "chr_id": "17", "chr_pos": "19013481", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A352", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756375395", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756375395" }, { "id": "rs756375395", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756375395" }, { "id": "rs756375395", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756375395" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 447, "end_pos": 447, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TSS->NSS).", "chr_id": "17", "chr_pos": "19019521", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T447", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs374428102", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374428102" }, { "id": "rs374428102", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374428102" }, { "id": "rs374428102", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374428102" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 4, "end_pos": 4, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->SST).", "chr_id": "17", "chr_pos": "18952216", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N4", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs148178887", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148178887" }, { "id": "rs148178887", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs148178887" }, { "id": "rs148178887", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148178887" }, { "id": "rs148178887", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148178887#frequency_tab" }, { "id": "rs148178887", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148178887" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 96, "end_pos": 96, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->IAT).", "chr_id": "17", "chr_pos": "18959238", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000998", "site_lbl": "N96", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764434936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764434936" }, { "id": "rs764434936", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764434936" }, { "id": "rs764434936", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764434936#frequency_tab" }, { "id": "rs764434936", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764434936" }, { "id": "22722829", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22722829" }, { "id": "22895193", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22895193" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 98, "end_pos": 98, "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->NAM).", "chr_id": "17", "chr_pos": "18959608", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T98", "keywords": [ "ebi", "somatic" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "85.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000154025", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154025" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "42.25", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000154025", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154025" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "42.7", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000154025", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154025" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "49.98", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000154025", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154025" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "50.44", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000154025", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154025" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "49.74", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000154025", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154025" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "55.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000154025", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154025" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "54.78", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000154025", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154025" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "48.31", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000154025", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154025" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "52.68", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000154025", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154025" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "A0PJK1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PJK1" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "A0PJK1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PJK1" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "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 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"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": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "A0PJK1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PJK1" } ], "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": 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}, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A0PJK1", "url": "https://www.uniprot.org/uniprot/A0PJK1" } ], "common_name": "Human" } ], "gene": [ { "name": "SLC5A10", "url": "https://www.uniprot.org/uniprot/A0PJK1", "locus": { "chromosome": "17", "start_pos": 19022595, "end_pos": 18950345, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000154025", "url": "https://www.ensembl.org/id/ENSG00000154025" } ] } } ], "crossref": [ { "id": "ENSG00000154025", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154025", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd11489", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd11489", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "SLC5A10", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A10", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "125206", "url": "https://www.ncbi.nlm.nih.gov/gene/125206", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "23155", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=23155", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "IPR001734", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001734", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018212", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018212", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR038377", "url": "https://www.ebi.ac.uk/interpro/entry/IPR038377", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:125206", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:125206", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "618636", "url": "http://www.omim.org/entry/618636", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_A0PJK1", "url": "https://www.nextprot.org/entry/NX_A0PJK1", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "IWEQIFV", "url": "https://omabrowser.org/oma/group/IWEQIFV/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "74094at2759", "url": "http://www.orthodb.org/?query=74094at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11819", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11819", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11819:SF128", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11819:SF128", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00474", "url": "http://pfam.xfam.org/family/PF00474", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "A0PJK1", "url": "https://pharos.nih.gov/targets/A0PJK1", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_A0PJK1", "url": "http://purl.obolibrary.org/obo/PR_A0PJK1", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001035915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "72907", "url": "https://www.rhea-db.org/rhea/72907", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "72915", "url": "https://www.rhea-db.org/rhea/72915", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0PJK1", "url": "https://www.uniprot.org/uniprot/A0PJK1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0PJK1-1", "url": "https://www.uniprot.org/uniprot/A0PJK1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0PJK1-2", "url": "https://www.uniprot.org/uniprot/A0PJK1-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0PJK1-3", "url": "https://www.uniprot.org/uniprot/A0PJK1-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0PJK1-4", "url": "https://www.uniprot.org/uniprot/A0PJK1-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0PJK1-5", "url": "https://www.uniprot.org/uniprot/A0PJK1-5", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAANSTSDLHTPGTQLSVADIIVITVYFALNVAVGIWSSCRASRNTVNGYFLAGRDMTWWPIGASLFASSEGSGLFIGLAGSGAAGGLAVAGFEWNATYVLLALAWVFVPIYISSEIVTLPEYIQKRYGGQRIRMYLSVLSLLLSVFTKISLDLYAGALFVHICLGWNFYLSTILTLGITALYTIAGGLAAVIYTDALQTLIMVVGAVILTIKAFDQIGGYGQLEAAYAQAIPSRTIANTTCHLPRTDAMHMFRDPHTGDLPWTGMTFGLTIMATWYWCTDQVIVQRSLSARDLNHAKAGSILASYLKMLPMGLIIMPGMISRALFPDDVGCVVPSECLRACGAEVGCSNIAYPKLVMELMPIGLRGLMIAVMLAALMSSLTSIFNSSSTLFTMDIWRRLRPRSGERELLLVGRLVIVALIGVSVAWIPVLQDSNSGQLFIYMQSVTSSLAPPVTAVFVLGVFWRRANEQGAFWGLIAGLVVGATRLVLEFLNPAPPCGEPDTRPAVLGSIHYLHFAVALFALSGAVVVAGSLLTPPPQSVQIENLTWWTLAQDVPLGTKAGDGQTPQKHAFWARVCGFNAILLMCVNIFFYAYFA", "length": 596, "header": "sp|A0PJK1-1|SC5AA_HUMAN Isoform 1 of Sodium/mannose cotransporter SLC5A10 OS=Homo sapiens OX=9606 GN=SLC5A10 PE=1 SV=2 CANONICAL=A0PJK1-1" }, "isoforms": [ { "isoform_ac": "A0PJK1-1", "url": "", "sequence": { "sequence": "MAANSTSDLHTPGTQLSVADIIVITVYFALNVAVGIWSSCRASRNTVNGYFLAGRDMTWWPIGASLFASSEGSGLFIGLAGSGAAGGLAVAGFEWNATYVLLALAWVFVPIYISSEIVTLPEYIQKRYGGQRIRMYLSVLSLLLSVFTKISLDLYAGALFVHICLGWNFYLSTILTLGITALYTIAGGLAAVIYTDALQTLIMVVGAVILTIKAFDQIGGYGQLEAAYAQAIPSRTIANTTCHLPRTDAMHMFRDPHTGDLPWTGMTFGLTIMATWYWCTDQVIVQRSLSARDLNHAKAGSILASYLKMLPMGLIIMPGMISRALFPDDVGCVVPSECLRACGAEVGCSNIAYPKLVMELMPIGLRGLMIAVMLAALMSSLTSIFNSSSTLFTMDIWRRLRPRSGERELLLVGRLVIVALIGVSVAWIPVLQDSNSGQLFIYMQSVTSSLAPPVTAVFVLGVFWRRANEQGAFWGLIAGLVVGATRLVLEFLNPAPPCGEPDTRPAVLGSIHYLHFAVALFALSGAVVVAGSLLTPPPQSVQIENLTWWTLAQDVPLGTKAGDGQTPQKHAFWARVCGFNAILLMCVNIFFYAYFA", "length": 596, "header": "sp|A0PJK1-1|SC5AA_HUMAN Isoform 1 of Sodium/mannose cotransporter SLC5A10 OS=Homo sapiens OX=9606 GN=SLC5A10 PE=1 SV=2 CANONICAL=A0PJK1-1" }, "locus": { "chromosome": "17", "start_pos": 19020428, "end_pos": 18952206, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395645.4", "url": "https://www.ensembl.org/id/ENST00000395645.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000379007.3", "url": "https://www.ensembl.org/id/ENSP00000379007.3" } ] } }, { "isoform_ac": "A0PJK1-2", "url": "", "sequence": { "sequence": "MAANSTSDLHTPGTQLSVADIIVITVYFALNVAVGIWSSCRASRNTVNGYFLAGRDMTWWPIGASLFASSEGSGLFIGLAGSGAAGGLAVAGFEWNATYVLLALAWVFVPIYISSEIVTLPEYIQKRYGGQRIRMYLSVLSLLLSVFTKISLDLYAGALFVHICLGWNFYLSTILTLGITALYTIAAFDQIGGYGQLEAAYAQAIPSRTIANTTCHLPRTDAMHMFRDPHTGDLPWTGMTFGLTIMATWYWCTDQVIVQRSLSARDLNHAKAGSILASYLKMLPMGLIIMPGMISRALFPDDVGCVVPSECLRACGAEVGCSNIAYPKLVMELMPIGLRGLMIAVMLAALMSSLTSIFNSSSTLFTMDIWRRLRPRSGERELLLVGRLVIVALIGVSVAWIPVLQDSNSGQLFIYMQSVTSSLAPPVTAVFVLGVFWRRANEQGAFWGLIAGLVVGATRLVLEFLNPAPPCGEPDTRPAVLGSIHYLHFAVALFALSGAVVVAGSLLTPPPQSVQIENLTWWTLAQDVPLGTKAGDGQTPQKHAFWARVCGFNAILLMCVNIFFYAYFA", "length": 569, "header": "sp|A0PJK1-2|SC5AA_HUMAN Isoform 2 of Sodium/mannose cotransporter SLC5A10 OS=Homo sapiens OX=9606 GN=SLC5A10 PE=1 SV=2 CANONICAL=A0PJK1-1" }, "locus": { "chromosome": "17", "start_pos": 19020428, "end_pos": 18952206, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395643.6", "url": "https://www.ensembl.org/id/ENST00000395643.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000379005.2", "url": "https://www.ensembl.org/id/ENSP00000379005.2" } ] } }, { "isoform_ac": "A0PJK1-3", "url": "", "sequence": { "sequence": "MTWWPIGASLFASSEGSGLFIGLAGSGAAGGLAVAGFEWNATYVLLALAWVFVPIYISSEIVTLPEYIQKRYGGQRIRMYLSVLSLLLSVFTKISLDLYAGALFVHICLGWNFYLSTILTLGITALYTIAAFDQIGGYGQLEAAYAQAIPSRTIANTTCHLPRTDAMHMFRDPHTGDLPWTGMTFGLTIMATWYWCTDQVIVQRSLSARDLNHAKAGSILASYLKMLPMGLIIMPGMISRALFPGAHVYEERHQVSVSRTDDVGCVVPSECLRACGAEVGCSNIAYPKLVMELMPIGLRGLMIAVMLAALMSSLTSIFNSSSTLFTMDIWRRLRPRSGERELLLVGRTGIPSTPPAPQSRLSFLLPETPPLERYLLGLVVMDLWLVIVALIGVSVAWIPVLQDSNSGQLFIYMQSVTSSLAPPVTAVFVLGVFWRRANEQGAFWGLIAGLVVGATRLVLEFLNPAPPCGEPDTRPAVLGSIHYLHFAVALFALSGAVVVAGSLLTPPPQSVQIENLTWWTLAQDVPLGTKAGDGQTPQKHAFWARVCGFNAILLMCVNIFFYAYFA", "length": 566, "header": "sp|A0PJK1-3|SC5AA_HUMAN Isoform 3 of Sodium/mannose cotransporter SLC5A10 OS=Homo sapiens OX=9606 GN=SLC5A10 PE=1 SV=2 CANONICAL=A0PJK1-1" }, "locus": { "chromosome": "17", "start_pos": 19020428, "end_pos": 18958739, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000317977.10", "url": "https://www.ensembl.org/id/ENST00000317977.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000324346.6", "url": "https://www.ensembl.org/id/ENSP00000324346.6" } ] } }, { "isoform_ac": "A0PJK1-4", "url": "", "sequence": { "sequence": "MAANSTSDLHTPGTQLSVADIIVITVYFALNVAVGIWSSCRASRNTVNGYFLAGRDMTWWPIGASLFASSEGSGLFIGLAGSGAAGGLAVAGFEWNATYVLLALAWVFVPIYISSEIVTLPEYIQKRYGGQRIRMYLSVLSLLLSVFTKISLDLYAGALFVHICLGWNFYLSTILTLGITALYTIAGGLAAVIYTDALQTLIMVVGAVILTIKAFDQIGGYGQLEAAYAQAIPSRTIANTTCHLPRTDAMHMFRDPHTGDLPWTGMTFGLTIMATWYWCTDQVIVQRSLSARDLNHAKAGSILASYLKMLPMGLIIMPGMISRALFPGAHVYEERHQVSVSRTDDVGCVVPSECLRACGAEVGCSNIAYPKLVMELMPIGLRGLMIAVMLAALMSSLTSIFNSSSTLFTMDIWRRLRPRSGERELLLVGRLVIVALIGVSVAWIPVLQDSNSGQLFIYMQSVTSSLAPPVTAVFVLGVFWRRANEQGAFWGLIAGLVVGATRLVLEFLNPAPPCGEPDTRPAVLGSIHYLHFAVALFALSGAVVVAGSLLTPPPQSVQIENLTWWTLAQDVPLGTKAGDGQTPQKHAFWARVCGFNAILLMCVNIFFYAYFA", "length": 612, "header": "sp|A0PJK1-4|SC5AA_HUMAN Isoform 4 of Sodium/mannose cotransporter SLC5A10 OS=Homo sapiens OX=9606 GN=SLC5A10 PE=1 SV=2 CANONICAL=A0PJK1-1" }, "locus": { "chromosome": "17", "start_pos": 19020428, "end_pos": 18952206, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395647.6", "url": "https://www.ensembl.org/id/ENST00000395647.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000379008.2", "url": "https://www.ensembl.org/id/ENSP00000379008.2" } ] } }, { "isoform_ac": "A0PJK1-5", "url": "", "sequence": { "sequence": "MAANSTSDLHTPGTQLSVADIIVITVYFALNVAVGIWSSCRASRNTVNGYFLAGRDMTWWPIGASLFASSEGSGLFIGLAGSGAAGGLAVAGFEWNATYVLLALAWVFVPIYISSEIVTLPEYIQKRYGGQRIRMYLSVLSLLLSVFTKISLDLYAGALFVHICLGWNFYLSTILTLGITALYTIAGGLAAVIYTDALQTLIMVVGAVILTIKAFDQIGGYGQLEAAYAQAIPSRTIANTTCHLPRTDAMHMFRDPHTGDLPWTGMTFGLTIMATWYWCTDQVIVQRSLSARDLNHAKAGSILASYLKMLPMGLIIMPGMISRALFPGLRGLMIAVMLAALMSSLTSIFNSSSTLFTMDIWRRLRPRSGERELLLVGRLVIVALIGVSVAWIPVLQDSNSGQLFIYMQSVTSSLAPPVTAVFVLGVFWRRANEQGAFWGLIAGLVVGATRLVLEFLNPAPPCGEPDTRPAVLGSIHYLHFAVALFALSGAVVVAGSLLTPPPQSVQIENLTWWTLAQDVPLGTKAGDGQTPQKHAFWARVCGFNAILLMCVNIFFYAYFA", "length": 560, "header": "sp|A0PJK1-5|SC5AA_HUMAN Isoform 5 of Sodium/mannose cotransporter SLC5A10 OS=Homo sapiens OX=9606 GN=SLC5A10 PE=1 SV=2 CANONICAL=A0PJK1-1" }, "locus": { "chromosome": "17", "start_pos": 19020428, "end_pos": 18952206, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000417251.6", "url": "https://www.ensembl.org/id/ENST00000417251.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000401875.2", "url": "https://www.ensembl.org/id/ENSP00000401875.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 4, "start_aa": "Asn", "end_pos": 4, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn4", "evidence": [ { "id": "A0PJK1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0PJK1#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 96, "start_aa": "Asn", "end_pos": 96, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn96", "evidence": [ { "id": "A0PJK1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0PJK1#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 141, "end_pos": 141, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A0PJK1", "url": "https://www.uniprot.org/uniprot/A0PJK1" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "A0PJK1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0PJK1" } ], "site_lbl": "Ser141" }, { "start_pos": 145, "end_pos": 145, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A0PJK1", "url": "https://www.uniprot.org/uniprot/A0PJK1" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "A0PJK1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0PJK1" } ], "site_lbl": "Ser145" }, { "start_pos": 148, "end_pos": 148, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "A0PJK1", "url": "https://www.uniprot.org/uniprot/A0PJK1" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "A0PJK1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0PJK1" } ], "site_lbl": "Thr148" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "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. 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"https://glygen.org/publication/PubMed/2656669" } ] }, { "title": "GLUT, SGLT, and SWEET: Structural and mechanistic investigations of the glucose transporters.", "journal": "Protein science : a publication of the Protein Society", "date": "2016", "authors": "Deng D, Yan N", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "26650681", "url": "https://glygen.org/publication/PubMed/26650681" } ] }, { "title": "Functional intronic variant of SLC5A10 affects DRG2 expression and survival outcomes of early-stage non-small-cell lung cancer.", "journal": "Cancer science", "date": "2018", "authors": "Hong MJ, Yoo SS, Choi JE, Kang HG, Do SK, Lee JH, Lee WK, Lee J, Lee SY, Cha SI, Kim CH, Lee EB, Cho S, Jheon S, Park JY", "evidence": [ { "database": "RefSeq", "id": "NP_001035915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915" } ], "reference": [ { "type": "PubMed", "id": "30281872", "url": "https://glygen.org/publication/PubMed/30281872" } ] }, { "title": "Rare variants in SLC5A10 are associated with serum 1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in Communities (ARIC) Study.", "journal": "Scientific reports", "date": "2019", "authors": "Loomis SJ, Kottgen A, Li M, Tin A, Coresh J, Boerwinkle E, Gibbs R, Muzny D, Pankow J, Selvin E, Duggal P", "evidence": [ { "database": "RefSeq", "id": "NP_001035915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915" } ], "reference": [ { "type": "PubMed", "id": "30976018", "url": "https://glygen.org/publication/PubMed/30976018" } ] }, { "title": "SGLT5 is the renal transporter for 1,5-anhydroglucitol, a major player in two rare forms of neutropenia.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2023-08-18", "authors": "Diederich Jennifer, Mounkoro Pierre, Tirado Hernan A, Chevalier Nathalie, Van Schaftingen Emile, Veiga-da-Cunha Maria", "evidence": [ { "database": "RefSeq", "id": "NP_001035915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915" } ], "reference": [ { "type": "PubMed", "id": "37594549", "url": "https://glygen.org/publication/PubMed/37594549" } ] }, { "title": "Kinetic analysis of the liver-type (GLUT2) and brain-type (GLUT3) glucose transporters in Xenopus oocytes: substrate specificities and effects of transport inhibitors.", "journal": "The Biochemical journal", "date": "1993", "authors": "Colville CA, Seatter MJ, Jess TJ, Gould GW, Thomas HM", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "8457197", "url": "https://glygen.org/publication/PubMed/8457197" } ] }, { "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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