{ "uniprot_canonical_ac": "O15427-1", "uniprot_ac": "O15427", "uniprot_id": "MOT4_HUMAN", "mass": { "chemical_mass": 49469.0, "monoisotopic_mass": 49469.0 }, "refseq": { "ac": "NP_001035887", "name": "monocarboxylate transporter 4", "summary": "Lactic acid and pyruvate transport across plasma membranes is catalyzed by members of the proton-linked monocarboxylate transporter (MCT) family, which has been designated solute carrier family-16. Each MCT appears to have slightly different substrate and inhibitor specificities and transport kinetics, which are related to the metabolic requirements of the tissues in which it is found. The MCTs, which include MCT1 (SLC16A1; MIM 600682) and MCT2 (SLC16A7; MIM 603654), are characterized by 12 predicted transmembrane domains (Price et al., 1998 [PubMed 9425115]).[supplied by OMIM, Mar 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035887" }, "gene_names": [ { "name": "SLC16A3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15427", "id": "O15427" }, { "name": "MCT 3; MCT 4; MCT-3; MCT-4; MCT3; MCT4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035887", "id": "NP_001035887" }, { "name": "MCT3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15427", "id": "O15427" }, { "name": "MCT4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15427", "id": "O15427" }, { "name": "SLC16A3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035887", "id": "NP_001035887" } ], "protein_names": [ { "name": "Monocarboxylate transporter 4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15427" }, { "name": "MCT 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15427" }, { "name": "Solute carrier family 16 member 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15427" }, { "name": "monocarboxylate transporter 3; solute carrier family 16 (monocarboxylic acid transporters), member 3; solute carrier family 16, member 3 (monocarboxylic acid transporter 4); solute carrier family 16 (monocarboxylate transporter), member 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035887", "id": "NP_001035887" }, { "name": "monocarboxylate transporter 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035887", "id": "NP_001035887" } ], "function": [ { "annotation": "Identification and Validation of a Prognostic Model Based on Three MVI-Related Genes in Hepatocellular Carcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001035887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035887" }, { "database": "PubMed", "id": "34975331", "url": "https://glygen.org/publication/PubMed/34975331" } ] }, { "annotation": "Involvement of SLC16A1/MCT1 and SLC16A3/MCT4 in l-lactate transport in the hepatocellular carcinoma cell line.", "evidence": [ { "database": "RefSeq", "id": "NP_001035887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035887" }, { "database": "PubMed", "id": "36104287", "url": "https://glygen.org/publication/PubMed/36104287" } ] }, { "annotation": "Lactic acid and pyruvate transport across plasma membranes is catalyzed by members of the proton-linked monocarboxylate transporter (MCT) family, which has been designated solute carrier family-16. Each MCT appears to have slightly different substrate and inhibitor specificities and transport kinetics, which are related to the metabolic requirements of the tissues in which it is found. The MCTs, which include MCT1 (SLC16A1; MIM 600682) and MCT2 (SLC16A7; MIM 603654), are characterized by 12 predicted transmembrane domains (Price et al., 1998 [PubMed 9425115]).[supplied by OMIM, Mar 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001035887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035887" } ] }, { "annotation": "MCT4 as a potential therapeutic target to augment gemcitabine chemosensitivity in resected pancreatic cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001035887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035887" }, { "database": "PubMed", "id": "34791637", "url": "https://glygen.org/publication/PubMed/34791637" } ] }, { "annotation": "Monocarboxylate transporter 4 inhibition potentiates hepatocellular carcinoma immunotherapy through enhancing T cell infiltration and immune attack.", "evidence": [ { "database": "RefSeq", "id": "NP_001035887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035887" }, { "database": "PubMed", "id": "35043976", "url": "https://glygen.org/publication/PubMed/35043976" } ] }, { "annotation": "Proton-dependent transporter of monocarboxylates such as L-lactate and pyruvate (PubMed:11101640, PubMed:23935841, PubMed:31719150). Plays a predominant role in L-lactate efflux from highly glycolytic cells (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427#function" }, { "database": "UniProtKB", "id": "O35910", "url": "https://www.uniprot.org/uniprot/O35910#function" }, { "database": "PubMed", "id": "31719150", "url": "https://glygen.org/publication/PubMed/31719150" }, { "database": "PubMed", "id": "11101640", "url": "https://glygen.org/publication/PubMed/11101640" }, { "database": "PubMed", "id": "23935841", "url": "https://glygen.org/publication/PubMed/23935841" } ] }, { "annotation": "The tissue expression of MCT3, MCT8, and MCT9 genes in women with breast cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001035887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035887" }, { "database": "PubMed", "id": "34097251", "url": "https://glygen.org/publication/PubMed/34097251" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O15427", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15427" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 219, "end_pos": 219, "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 (DLS->NLS).", "chr_id": "17", "chr_pos": "82237425", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D219", "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 of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1256318707", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1256318707" }, { "id": "rs1256318707", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1256318707#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 351, "end_pos": 351, "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KFS->NFS).", "chr_id": "17", "chr_pos": "82237823", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K351", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1003394782", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1003394782" }, { "id": "rs1003394782", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1003394782" }, { "id": "rs1003394782", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1003394782" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 408, "end_pos": 408, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFF->NFS).", "chr_id": "17", "chr_pos": "82238801", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F408", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O15427", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15427" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 464, "end_pos": 464, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "G", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->G).", "chr_id": "17", "chr_pos": "82238968", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S464", "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 of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs756608894", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756608894" }, { "id": "rs756608894", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756608894" }, { "id": "rs756608894", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756608894" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 72, "end_pos": 72, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YGT->NGT).", "chr_id": "17", "chr_pos": "82236222", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y72", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 198, "end_pos": 198, "sequence_org": "R", "sequence_mut": "Q", "comment": "Does not affect lactate transmembrane transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" }, { "database": "PubMed", "id": "23935841", "url": "https://glygen.org/publication/PubMed/23935841" } ] }, { "start_pos": 278, "end_pos": 278, "sequence_org": "R", "sequence_mut": "K", "comment": "Abolishes lactate transmembrane transporter activity. Does not affect cell membrane localization.", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" }, { "database": "PubMed", "id": "23935841", "url": "https://glygen.org/publication/PubMed/23935841" } ] }, { "start_pos": 278, "end_pos": 278, "sequence_org": "R", "sequence_mut": "Q", "comment": "Abolishes lactate transmembrane transporter activity. Does not affect cell membrane localization.", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" }, { "database": "PubMed", "id": "23935841", "url": "https://glygen.org/publication/PubMed/23935841" } ] }, { "start_pos": 425, "end_pos": 425, "sequence_org": "E", "sequence_mut": "A", "comment": "Affects subcellular localization leading to apical localization. Affects subcellular localization leading to apical localization; when associated with A-426 and A-427.", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" }, { "database": "PubMed", "id": "21199217", "url": "https://glygen.org/publication/PubMed/21199217" } ] }, { "start_pos": 426, "end_pos": 426, "sequence_org": "E", "sequence_mut": "A", "comment": "Leads to a nonpolar expression pattern. Affects subcellular localization leading to apical localization; when associated with A-425 and A-427.", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" }, { "database": "PubMed", "id": "21199217", "url": "https://glygen.org/publication/PubMed/21199217" } ] }, { "start_pos": 427, "end_pos": 427, "sequence_org": "E", "sequence_mut": "A", "comment": "Affects subcellular localization leading to apical localization. Affects subcellular localization leading to apical localization; when associated with A-425 and A-426.", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" }, { "database": "PubMed", "id": "21199217", "url": "https://glygen.org/publication/PubMed/21199217" } ] }, { "start_pos": 432, "end_pos": 432, "sequence_org": "P", "sequence_mut": "A", "comment": "Does not affect basolateral plasma membrane localization. Intracellular accumulation. Affects subcellular localization leading to apical localization; when associated with A-433.", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" }, { "database": "PubMed", "id": "21199217", "url": "https://glygen.org/publication/PubMed/21199217" } ] }, { "start_pos": 433, "end_pos": 433, "sequence_org": "P", "sequence_mut": "A", "comment": "Does not affect basolateral plasma membrane localization. Intracellular accumulation. Affects subcellular localization leading to apical localization; when associated with A-432.", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" }, { "database": "PubMed", "id": "21199217", "url": "https://glygen.org/publication/PubMed/21199217" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "81.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141526", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141526" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "75.53", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000141526", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141526" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "81.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141526", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141526" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "86.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141526", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141526" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "86.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141526", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141526" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "81.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141526", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141526" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "83.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141526", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141526" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "82.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141526", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141526" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "85.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141526", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141526" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "79.83", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000141526", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141526" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "77.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000141526", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141526" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "84.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141526", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141526" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "83.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141526", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141526" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O15427", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15427" } ], "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, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15427", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15427" } ], "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 of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O15427", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15427" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O15427", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15427" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O15427", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15427" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O15427", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15427" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O15427", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15427" } ], "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": "O15427", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15427" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O15427", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15427" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O15427", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15427" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O15427", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15427" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O15427", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15427" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "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": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" } ], "common_name": "Human" } ], "gene": [ { "name": "SLC16A3", "url": "https://www.uniprot.org/uniprot/O15427", "locus": { "chromosome": "17", "start_pos": 82261129, "end_pos": 82217934, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000141526", "url": "https://www.ensembl.org/id/ENSG00000141526" } ] } } ], "crossref": [ { "id": "ENSG00000141526", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141526", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O15427", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15427", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd17430", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd17430", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL2073663", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL2073663", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "SLC16A3", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC16A3", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "9123", "url": "https://www.ncbi.nlm.nih.gov/gene/9123", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "10924", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10924", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O15427", "url": "https://www.ebi.ac.uk/intact/interactors/id:O15427*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR004743", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004743", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011701", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011701", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020846", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020846", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036259", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036259", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9123", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9123", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603877", "url": "http://www.omim.org/entry/603877", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O15427", "url": "https://www.nextprot.org/entry/NX_O15427", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O15427", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15427", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "YGMTEVQ", "url": "https://omabrowser.org/oma/group/YGMTEVQ/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2917104at2759", "url": "http://www.orthodb.org/?query=2917104at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11360", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11360", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11360:SF27", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11360:SF27", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF07690", "url": "http://pfam.xfam.org/family/PF07690", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O15427", "url": "https://pharos.nih.gov/targets/O15427", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O15427", "url": "http://purl.obolibrary.org/obo/PR_O15427", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-210991", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210991", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-433692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-433692", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001035887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035887", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "29415", "url": "https://www.rhea-db.org/rhea/29415", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "64720", "url": "https://www.rhea-db.org/rhea/64720", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "J3KTI8", "url": "https://www.uniprot.org/uniprot/J3KTI8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KTI8-1", "url": "https://www.uniprot.org/uniprot/J3KTI8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KTM6", "url": "https://www.uniprot.org/uniprot/J3KTM6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KTM6-1", "url": "https://www.uniprot.org/uniprot/J3KTM6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QQS9", "url": "https://www.uniprot.org/uniprot/J3QQS9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QQS9-1", "url": "https://www.uniprot.org/uniprot/J3QQS9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QQV2", "url": "https://www.uniprot.org/uniprot/J3QQV2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QQV2-1", "url": "https://www.uniprot.org/uniprot/J3QQV2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QRA0", "url": "https://www.uniprot.org/uniprot/J3QRA0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QRA0-1", "url": "https://www.uniprot.org/uniprot/J3QRA0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QRP8", "url": "https://www.uniprot.org/uniprot/J3QRP8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QRP8-1", "url": "https://www.uniprot.org/uniprot/J3QRP8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QSC3", "url": "https://www.uniprot.org/uniprot/J3QSC3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QSC3-1", "url": "https://www.uniprot.org/uniprot/J3QSC3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15427-1", "url": "https://www.uniprot.org/uniprot/O15427-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGGAVVDEGPTGVKAPDGGWGWAVLFGCFVITGFSYAFPKAVSVFFKELIQEFGIGYSDTAWISSILLAMLYGTGPLCSVCVNRFGCRPVMLVGGLFASLGMVAASFCRSIIQVYLTTGVITGLGLALNFQPSLIMLNRYFSKRRPMANGLAAAGSPVFLCALSPLGQLLQDRYGWRGGFLILGGLLLNCCVCAALMRPLVVTAQPGSGPPRPSRRLLDLSVFRDRGFVLYAVAASVMVLGLFVPPVFVVSYAKDLGVPDTKAAFLLTILGFIDIFARPAAGFVAGLGKVRPYSVYLFSFSMFFNGLADLAGSTAGDYGGLVVFCIFFGISYGMVGALQFEVLMAIVGTHKFSSAIGLVLLMEAVAVLVGPPSGGKLLDATHVYMYVFILAGAEVLTSSLILLLGNFFCIRKKPKEPQPEVAAAEEEKLHKPPADSGVDLREVEHFLKAEPEKNGEVVHTPETSV", "length": 465, "header": "sp|O15427-1|MOT4_HUMAN Isoform 1 of Monocarboxylate transporter 4 OS=Homo sapiens OX=9606 GN=SLC16A3 PE=1 SV=1 CANONICAL=O15427-1" }, "isoforms": [ { "isoform_ac": "J3KTI8-1", "url": "", "sequence": { "sequence": "LIMLNRYFSKRRPMANGLAAAGSPVFLCALSPLGQLLQDRYGWRGGFLILGGLLLNCCVCAALMRPLVVTAQPGSGPPRPSRRLLDLSVFRDRGFVLYAVAASVMVLGLFVPPVFVVSYAKDLGVPDTKAAFLLTILGFIDIFARPAAGFVAGLGKVRPYSVYLFSFSMFFNGLADLAGSTAGDYGGLVVFCIFFGISYGMVGALQFEVLMAIVGTHKFSSAIGLVLLMEAVAVLVGPPSGGVLLSPRLEGSGTITAPCSLNLPNSSHPPASASRVAETTDVSHCTWPVSFSSLPPKCLSRNHPFC", "length": 306, "header": "tr|J3KTI8-1|MOT4_HUMAN Computationally mapped isoform of Monocarboxylate transporter 4 OS=Homo sapiens OX=9606 GN=SLC16A3 PE=1 SV=1 CANONICAL=O15427-1" }, "locus": { "chromosome": "17", "start_pos": 82261092, "end_pos": 82237170, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000583025.1", "url": "https://www.ensembl.org/id/ENST00000583025.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000463005.1", "url": "https://www.ensembl.org/id/ENSP00000463005.1" } ] } }, { "isoform_ac": "J3KTM6-1", "url": "", "sequence": { "sequence": "MGGAVVDEGPTGVKAVSVFFKELIQEFGIGYSDTAWISSILLAMLYGTGPLCSVCVNRFGCRPVMLVGGLFASLGMVAASFCRSIIQVYLTTGVITGLGLALNFQPSLIMLNRYFSKRRPMANGLAAAGSPVFLCALSPLGQLLQDRYGWRGGFLILGGLLLNCCVCAALMRPLVVTAQPGSGPPRPSRRLLDLSVFRDRGFVLYAVAASVMVLGLFVPPVFVVSYAKDLGVPDTKAAFLLTILGFIDIFARPAAGFVAGLGKVRPYSVYLFSFSMFFNGLADLAGSTAGDYGGLVVFCIFFGISYGMVGALQFEVLMAIVGTHKFSSAIGLVLLMEAVAVLVGPPSGGKLLDATHVYMYVFILAGAEVLTSSLILLLGNFFCIRKKPKEPQPEVAAAEEEKLHKPPADSGVDLREVEHFLKAEPEKNGEVVHTPETSV", "length": 439, "header": "tr|J3KTM6-1|MOT4_HUMAN Computationally mapped isoform of Monocarboxylate transporter 4 OS=Homo sapiens OX=9606 GN=SLC16A3 PE=1 SV=2 CANONICAL=O15427-1" }, "locus": { "chromosome": "17", "start_pos": 82238973, "end_pos": 82236009, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000577650.6", "url": "https://www.ensembl.org/id/ENST00000577650.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000463063.2", "url": "https://www.ensembl.org/id/ENSP00000463063.2" } ] } }, { "isoform_ac": "J3QQS9-1", "url": "", "sequence": { "sequence": "MGGAVVDEGPTGVKAPDGGWGWAVLFGCFVITGFSYAFPKAVSVFFKELIQEFGIGYSDTAWISSILLAMLYGTGPLCSVCVNRFGCRPVMLVGGLFASLGMVAASFCRSIIQVYLTTGVITGLGLALNFQPSLIMLNRYFSKRRPMANGLAAAGSPVFLCALSPLGQLLQDRYGWRGGFLILGGLLLNCCVCAALMRPLVVTAQPGSGPPRPSRRLLDLSVFRDRGFVLYAVAASVMVLGLFVPPVFVVSYAKDLGVPDTKAAFLLTILGFIDIFARPAAGFVAGLGKVRPYSVYLFSFSMFFNGLADLAGSTAGDYGGLVVFCIFFGISYGMVGALQFEVLMAIVGTHKFSSAIGLVLLMEAVAVLVGPPSGGRSPKSHSLRWRPRRRRSSTSLLQTRGWTCGRWSIS", "length": 410, "header": "tr|J3QQS9-1|MOT4_HUMAN Computationally mapped isoform of Monocarboxylate transporter 4 OS=Homo sapiens OX=9606 GN=SLC16A3 PE=1 SV=2 CANONICAL=O15427-1" }, "locus": { "chromosome": "17", "start_pos": 82238917, "end_pos": 82236009, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000580098.6", "url": "https://www.ensembl.org/id/ENST00000580098.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000463880.2", "url": "https://www.ensembl.org/id/ENSP00000463880.2" } ] } }, { "isoform_ac": "J3QQV2-1", "url": "", "sequence": { "sequence": "MGGAVVDEGPTGVKAPDGGWGWAVLFGCFVITGFSYAFPKAVSVFFKELIQEFGIGYSDTAWISSILLAMLYGTGLGLALNFQPSLIMLNRYFSKRRPMANGLAAAGSPVFLCALSPLGQLLQDRYGWRGGFLILGGLLLNCCVCAALMRPLVVTAQPGSGPPRPSRRLLDLSVFRDRGFVLYAVAASVMVLGLFVPPVFVVSYAKDLGVPDTKAAFLLTILGFIDIFARPAAGFVAGLGKVRPYSVYLFSFSMFFNGLADLAGSTAGDYGGLVVFCIFFGISYGMVGALQFEVLMAIVGTHKFSSAIGLVLLMEAVAVLVGPPSGGKLLDATHVYMYVFILAGAEVLTSSLILLLGNFFCIRKKPKEPQPEVAAAEEEKLHKPPADSGVDLREVEHFLKAEPEKNGEVVHTPETSV", "length": 417, "header": "tr|J3QQV2-1|MOT4_HUMAN Computationally mapped isoform of Monocarboxylate transporter 4 OS=Homo sapiens OX=9606 GN=SLC16A3 PE=1 SV=9 CANONICAL=O15427-1" }, "locus": { "chromosome": "17", "start_pos": 82238973, "end_pos": 82236009, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000578684.6", "url": "https://www.ensembl.org/id/ENST00000578684.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000463912.2", "url": "https://www.ensembl.org/id/ENSP00000463912.2" } ] } }, { "isoform_ac": "J3QRA0-1", "url": "", "sequence": { "sequence": "MGGAVVDEGPTGVKAPDGGWGWAVLFGCFVITGFSYAFPKAVSVFFKELIQEFGIGYSDTAWISSILLAMLYGTGPLCSVCVNRFGCRPVMLVGGLFASLGMVAASFCRSIIQVYLTTGVITGLGLALNFQPSLIMLNRYFSKRRPMANGLAAAGSPVFLCALSPLGQLLQDRYGWRGGFLILGGLLLNCCVCAALMRPLVVTAQPGSGPPRPSRRLLDLSVF", "length": 223, "header": "tr|J3QRA0-1|J3QRA0_HUMAN Computationally mapped isoform of Monocarboxylate transporter 4 OS=Homo sapiens OX=9606 GN=SLC16A3 PE=1 SV=1 CANONICAL=O15427-1" }, "locus": { "chromosome": "17", "start_pos": 82238973, "end_pos": 82236009, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000580189", "url": "https://www.ensembl.org/id/ENST00000580189" }, { "database": "Ensembl Peptide", "id": "ENSP00000464112", "url": "https://www.ensembl.org/id/ENSP00000464112" } ] } }, { "isoform_ac": "J3QRP8-1", "url": "", "sequence": { "sequence": "MGGAVVDEGPTGVKAPDGGWGWAVLFGCFVITGFSYAFPKPVLPWAHMGPVPTPLECLGDSSFHPWKMEINLRVGGVLG", "length": 79, "header": "tr|J3QRP8-1|MOT4_HUMAN Computationally mapped isoform of Monocarboxylate transporter 4 OS=Homo sapiens OX=9606 GN=SLC16A3 PE=1 SV=8 CANONICAL=O15427-1" }, "locus": { "chromosome": "17", "start_pos": 82239479, "end_pos": 82236009, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000582715.1", "url": "https://www.ensembl.org/id/ENST00000582715.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000464326.1", "url": "https://www.ensembl.org/id/ENSP00000464326.1" } ] } }, { "isoform_ac": "J3QSC3-1", "url": "", "sequence": { "sequence": "MGGAVVDEGPTGVKAPDGGWGWAVLFGCFVITGFSYAFPKAVSVFFKELIQEFGIGYSDTAWISSILLAMLYGTGPLCSVCVNRFGCRPVMLVGGLFASLGMVAASFCRSIIQVYLTTGVITGLGLALNFQPSLIMLNRYFSKRRPMANGLAAAGSPVFLCALSPLGQLLQDRYGWRGGFLILGGLLLNCCVCAALMRPLVVTAQPGSGPPRPSRRLLDLSVFRDRGFVLYAVAASVMVLGLFVPPVFVVSYAKDLGVPDTKAAFLLTILGFIDIFARPAAGFVAGLGKVR", "length": 291, "header": "tr|J3QSC3-1|MOT4_HUMAN Computationally mapped isoform of Monocarboxylate transporter 4 OS=Homo sapiens OX=9606 GN=SLC16A3 PE=1 SV=1 CANONICAL=O15427-1" }, "locus": { "chromosome": "17", "start_pos": 82238973, "end_pos": 82236009, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000584689", "url": "https://www.ensembl.org/id/ENST00000584689" }, { "database": "Ensembl Peptide", "id": "ENSP00000464625", "url": "https://www.ensembl.org/id/ENSP00000464625" } ] } }, { "isoform_ac": "O15427-1", "url": "", "sequence": { "sequence": "MGGAVVDEGPTGVKAPDGGWGWAVLFGCFVITGFSYAFPKAVSVFFKELIQEFGIGYSDTAWISSILLAMLYGTGPLCSVCVNRFGCRPVMLVGGLFASLGMVAASFCRSIIQVYLTTGVITGLGLALNFQPSLIMLNRYFSKRRPMANGLAAAGSPVFLCALSPLGQLLQDRYGWRGGFLILGGLLLNCCVCAALMRPLVVTAQPGSGPPRPSRRLLDLSVFRDRGFVLYAVAASVMVLGLFVPPVFVVSYAKDLGVPDTKAAFLLTILGFIDIFARPAAGFVAGLGKVRPYSVYLFSFSMFFNGLADLAGSTAGDYGGLVVFCIFFGISYGMVGALQFEVLMAIVGTHKFSSAIGLVLLMEAVAVLVGPPSGGKLLDATHVYMYVFILAGAEVLTSSLILLLGNFFCIRKKPKEPQPEVAAAEEEKLHKPPADSGVDLREVEHFLKAEPEKNGEVVHTPETSV", "length": 465, "header": "sp|O15427-1|MOT4_HUMAN Isoform 1 of Monocarboxylate transporter 4 OS=Homo sapiens OX=9606 GN=SLC16A3 PE=1 SV=1 CANONICAL=O15427-1" }, "locus": { "chromosome": "17", "start_pos": 82238973, "end_pos": 82236009, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000392341.6", "url": "https://www.ensembl.org/id/ENST00000392341.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000376152.1", "url": "https://www.ensembl.org/id/ENSP00000376152.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 464, "start_aa": "Ser", "end_pos": 464, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser464", "evidence": [ { "id": "O15427", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15427" }, { "id": "30444036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30444036" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] } ], "phosphorylation": [ { "start_pos": 436, "end_pos": 436, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O15427", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15427" }, { "database": "PubMed", "id": "18578522", "url": "https://glygen.org/publication/PubMed/18578522" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O15427", "url": "http://phospho.elm.eu.org/byAccession/O15427.html" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser436" }, { "start_pos": 460, "end_pos": 460, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "O15427", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15427" }, { "database": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "phospho.ELM", "id": "O15427", "url": "http://phospho.elm.eu.org/byAccession/O15427.html" } ], "site_lbl": "Thr460" }, { "start_pos": 463, "end_pos": 463, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15427", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15427" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr463" }, { "start_pos": 464, "end_pos": 464, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "O15427", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15427" }, { "database": "PubMed", "id": "18578522", "url": "https://glygen.org/publication/PubMed/18578522" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "phospho.ELM", "id": "O15427", "url": "http://phospho.elm.eu.org/byAccession/O15427.html" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser464" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Cloning of the human monocarboxylate transporter MCT3 gene: localization to chromosome 22q12.3-q13.2.", "journal": "Genomics", "date": "1999", "authors": "Yoon H, Donoso LA, Philp NJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-433692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-433692" } ], "reference": [ { "type": "PubMed", "id": "10493836", "url": "https://glygen.org/publication/PubMed/10493836" } ] }, { "title": "Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport.", "journal": "Muscle & nerve", "date": "2000", "authors": "Merezhinskaya N, Fishbein WN, Davis JI, Foellmer JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-433692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-433692" } ], "reference": [ { "type": "PubMed", "id": "10590411", "url": "https://glygen.org/publication/PubMed/10590411" } ] }, { "title": "Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.", "journal": "Human mutation", "date": "2000", "authors": "Lissens W, De Meirleir L, Seneca S, Liebaers I, Brown GK, Brown RM, Ito M, Naito E, Kuroda Y, Kerr DS, Wexler ID, Patel MS, Robinson BH, Seyda A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "10679936", "url": "https://glygen.org/publication/PubMed/10679936" } ] }, { "title": "Homo-oligomer formation by basigin, an immunoglobulin superfamily member, via its N-terminal immunoglobulin domain.", "journal": "European journal of biochemistry", "date": "2000", "authors": "Yoshida S, Shibata M, Yamamoto S, Hagihara M, Asai N, Takahashi M, Mizutani S, Muramatsu T, Kadomatsu K", "evidence": [ { "database": "Reactome", "id": "R-HSA-210991", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210991" } ], "reference": [ { "type": "PubMed", "id": "10880960", "url": "https://glygen.org/publication/PubMed/10880960" } ] }, { "title": "CD147 is tightly associated with lactate transporters MCT1 and MCT4 and facilitates their cell surface expression.", "journal": "EMBO J.", "date": "2000", "authors": "Kirk P, Wilson MC, Heddle C, Brown MH, Barclay AN, Halestrap AP", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" }, { "database": "Reactome", "id": "R-HSA-210991", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210991" } ], "reference": [ { "type": "PubMed", "id": "10921872", "url": "https://glygen.org/publication/PubMed/10921872" } ] }, { "title": "Characterisation of human monocarboxylate transporter 4 substantiates its role in lactic acid efflux from skeletal muscle.", "journal": "The Journal of physiology", "date": "2000-12-01", "authors": "Manning Fox J E, Meredith D, Halestrap A P", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" } ], "reference": [ { "type": "PubMed", "id": "11101640", "url": "https://glygen.org/publication/PubMed/11101640" } ] }, { "title": "Structural basis for altered activity of M- and H-isozyme forms of human lactate dehydrogenase.", "journal": "Proteins", "date": "2001", "authors": "Read JA, Winter VJ, Eszes CM, Sessions RB, Brady RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "11276087", "url": "https://glygen.org/publication/PubMed/11276087" } ] }, { "title": "Selective active site inhibitors of human lactate dehydrogenases A4, B4, and C4.", "journal": "Biochemical pharmacology", "date": "2001", "authors": "Yu Y, Deck JA, Hunsaker LA, Deck LM, Royer RE, Goldberg E, Vander Jagt DL", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "11377399", "url": "https://glygen.org/publication/PubMed/11377399" } ] }, { "title": "Fluorescence resonance energy transfer studies on the interaction between the lactate transporter MCT1 and CD147 provide information on the topology and stoichiometry of the complex in situ.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Wilson MC, Meredith D, Halestrap AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-210991", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210991" } ], "reference": [ { "type": "PubMed", "id": "11719518", "url": "https://glygen.org/publication/PubMed/11719518" } ] }, { "title": "The remarkable structural and functional organization of the eukaryotic pyruvate dehydrogenase complexes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Zhou ZH, McCarthy DB, O'Connor CM, Reed LJ, Stoops JK", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "11752427", "url": "https://glygen.org/publication/PubMed/11752427" } ] }, { "title": "Active site residues of cyclophilin A are crucial for its signaling activity via CD147.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Yurchenko V, Zybarth G, O'Connor M, Dai WW, Franchin G, Hao T, Guo H, Hung HC, Toole B, Gallay P, Sherry B, Bukrinsky M", "evidence": [ { "database": "Reactome", "id": "R-HSA-210991", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210991" } ], "reference": [ { "type": "PubMed", "id": "11943775", "url": "https://glygen.org/publication/PubMed/11943775" } ] }, { "title": "The transport of pyruvate in rat liver mitochondria.", "journal": "FEBS letters", "date": "1971", "authors": "Papa S, Francavilla A, Paradies G, Meduri B", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "11945601", "url": "https://glygen.org/publication/PubMed/11945601" } ] }, { "title": "The immunoglobulin-superfamily molecule basigin is a binding protein for oligomannosidic carbohydrates: an anti-idiotypic approach.", "journal": "Journal of neurochemistry", "date": "2003", "authors": "Heller M, von der Ohe M, Kleene R, Mohajeri MH, Schachner M", "evidence": [ { "database": "Reactome", "id": "R-HSA-210991", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210991" } ], "reference": [ { "type": "PubMed", "id": "12558975", "url": "https://glygen.org/publication/PubMed/12558975" } ] }, { "title": "Polarized expression of monocarboxylate transporters in human retinal pigment epithelium and ARPE-19 cells.", "journal": "Investigative ophthalmology & visual science", "date": "2003", "authors": "Philp NJ, Wang D, Yoon H, Hjelmeland LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-433692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-433692" } ], "reference": [ { "type": "PubMed", "id": "12657613", "url": "https://glygen.org/publication/PubMed/12657613" } ] }, { "title": "The influence of solubility on the rate of gastrointestinal absorption of aspirin.", "journal": "Clinical pharmacology and therapeutics", "date": "1963", "authors": "LEONARDS JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-433692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-433692" } ], "reference": [ { "type": "PubMed", "id": "13929721", "url": "https://glygen.org/publication/PubMed/13929721" } ] }, { "title": "Structure and function of malic enzymes, a new class of oxidative decarboxylases.", "journal": "Biochemistry", "date": "2003", "authors": "Chang GG, Tong L", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "14596586", "url": "https://glygen.org/publication/PubMed/14596586" } ] }, { "title": "Caveolin-1 regulates matrix metalloproteinases-1 induction and CD147/EMMPRIN cell surface clustering.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Tang W, Hemler ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-210991", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210991" } ], "reference": [ { "type": "PubMed", "id": "14707126", "url": "https://glygen.org/publication/PubMed/14707126" } ] }, { "title": "Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.", "journal": "Human genetics", "date": "2004", "authors": "Brown RM, Head RA, Boubriak II, Leonard JV, Thomas NH, Brown GK", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "15138885", "url": "https://glygen.org/publication/PubMed/15138885" } ] }, { "title": "Presence and localization of three lactic acid transporters (MCT1, -2, and -4) in separated human granulocytes, lymphocytes, and monocytes.", "journal": "J. Histochem. Cytochem.", "date": "2004", "authors": "Merezhinskaya Natalya, Ogunwuyi Sunday A, Mullick Florabel G, Fishbein William N", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" } ], "reference": [ { "type": "PubMed", "id": "15505343", "url": "https://glygen.org/publication/PubMed/15505343" } ] }, { "title": "Cloning and characterization of a novel intronless lactate dehydrogenase gene in human testis.", "journal": "International journal of molecular medicine", "date": "2005", "authors": "Wang H, Zhou Z, Lu L, Xu Z, Sha J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "15870898", "url": "https://glygen.org/publication/PubMed/15870898" } ] }, { "title": "Metabolic activation-related CD147-CD98 complex.", "journal": "Molecular & cellular proteomics : MCP", "date": "2005", "authors": "Xu D, Hemler ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-210991", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210991" } ], "reference": [ { "type": "PubMed", "id": "15901826", "url": "https://glygen.org/publication/PubMed/15901826" } ] }, { "title": "pH-Dependent passive and active transport of acidic drugs across Caco-2 cell monolayers.", "journal": "European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences", "date": "2005", "authors": "Neuhoff S, Ungell AL, Zamora I, Artursson P", "evidence": [ { "database": "Reactome", "id": "R-HSA-433692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-433692" } ], "reference": [ { "type": "PubMed", "id": "15911216", "url": "https://glygen.org/publication/PubMed/15911216" } ] }, { "title": "Basigin (CD147) is the target for organomercurial inhibition of monocarboxylate transporter isoforms 1 and 4: the ancillary protein for the insensitive MCT2 is EMBIGIN (gp70).", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Wilson MC, Meredith D, Fox JE, Manoharan C, Davies AJ, Halestrap AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "15917240", "url": "https://glygen.org/publication/PubMed/15917240" } ] }, { "title": "Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/NADH binding and the structural basis of disease-causing mutations.", "journal": "Journal of molecular biology", "date": "2005", "authors": "Brautigam CA, Chuang JL, Tomchick DR, Machius M, Chuang DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "15946682", "url": "https://glygen.org/publication/PubMed/15946682" } ] }, { "title": "Cell surface expression of CD147/EMMPRIN is regulated by cyclophilin 60.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Pushkarsky T, Yurchenko V, Vanpouille C, Brichacek B, Vaisman I, Hatakeyama S, Nakayama KI, Sherry B, Bukrinsky MI", "evidence": [ { "database": "Reactome", "id": "R-HSA-210991", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210991" } ], "reference": [ { "type": "PubMed", "id": "15946952", "url": "https://glygen.org/publication/PubMed/15946952" } ] }, { "title": "Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.", "journal": "Annals of neurology", "date": "2005", "authors": "Head RA, Brown RM, Zolkipli Z, Shahdadpuri R, King MD, Clayton PT, Brown GK", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "16049940", "url": "https://glygen.org/publication/PubMed/16049940" } ] }, { "title": "Mechanisms regulating tissue-specific polarity of monocarboxylate transporters and their chaperone CD147 in kidney and retinal epithelia.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Deora AA, Philp N, Hu J, Bok D, Rodriguez-Boulan E", "evidence": [ { "database": "Reactome", "id": "R-HSA-210991", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210991" } ], "reference": [ { "type": "PubMed", "id": "16260747", "url": "https://glygen.org/publication/PubMed/16260747" } ] }, { "title": "The plasma membrane lactate transporter MCT4, but not MCT1, is up-regulated by hypoxia through a HIF-1alpha-dependent mechanism.", "journal": "J. Biol. Chem.", "date": "2006", "authors": "Ullah Mohammed S, Davies Andrew J, Halestrap Andrew P", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" } ], "reference": [ { "type": "PubMed", "id": "16452478", "url": "https://glygen.org/publication/PubMed/16452478" } ] }, { "title": "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.", "journal": "Nature biotechnology", "date": "2006", "authors": "Beausoleil SA, Villen J, Gerber SA, Rush J, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O15427", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15427" } ], "reference": [ { "type": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" }, { "database": "iPTMnet", "id": "O15427", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15427" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells.", "journal": "American journal of human genetics", "date": "2007", "authors": "Otonkoski T, Jiao H, Kaminen-Ahola N, Tapia-Paez I, Ullah MS, Parton LE, Schuit F, Quintens R, Sipila I, Mayatepek E, Meissner T, Halestrap AP, Rutter GA, Kere J", "evidence": [ { "database": "Reactome", "id": "R-HSA-433692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-433692" } ], "reference": [ { "type": "PubMed", "id": "17701893", "url": "https://glygen.org/publication/PubMed/17701893" } ] }, { "title": "LFA-1-mediated leukocyte adhesion regulated by interaction of CD43 with LFA-1 and CD147.", "journal": "Molecular immunology", "date": "2008", "authors": "Khunkaewla P, Schiller HB, Paster W, Leksa V, Cermak L, Andera L, Horejsi V, Stockinger H", "evidence": [ { "database": "Reactome", "id": "R-HSA-210991", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210991" } ], "reference": [ { "type": "PubMed", "id": "17996943", "url": "https://glygen.org/publication/PubMed/17996943" } ] }, { "title": "Identification of a novel human lactate dehydrogenase gene LDHAL6A, which activates transcriptional activities of AP1(PMA).", "journal": "Molecular biology reports", "date": "2009", "authors": "Chen X, Gu X, Shan Y, Tang W, Yuan J, Zhong Z, Wang Y, Huang W, Wan B, Yu L", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "18351441", "url": "https://glygen.org/publication/PubMed/18351441" } ] }, { "title": "TiO(2)-based phosphoproteomic analysis of the plasma membrane and the effects of phosphatase inhibitor treatment.", "journal": "Journal of proteome research", "date": "2008", "authors": "Thingholm TE, Larsen MR, Ingrell CR, Kassem M, Jensen ON", "evidence": [ { "database": "iPTMnet", "id": "O15427", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15427" } ], "reference": [ { "type": "PubMed", "id": "18578522", "url": "https://glygen.org/publication/PubMed/18578522" } ] }, { "title": "Transport evaluation of salicylic acid and structurally related compounds across Caco-2 cell monolayers and artificial PAMPA membranes.", "journal": "European journal of pharmaceutics and biopharmaceutics : official journal of Arbeitsgemeinschaft fur Pharmazeutische Verfahrenstechnik e.V", "date": "2008", "authors": "Koljonen M, Rousu K, Cierny J, Kaukonen AM, Hirvonen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-433692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-433692" } ], "reference": [ { "type": "PubMed", "id": "18582575", "url": "https://glygen.org/publication/PubMed/18582575" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" }, { "database": "iPTMnet", "id": "O15427", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15427" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" }, { "database": "iPTMnet", "id": "O15427", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15427" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Successive and selective release of phosphorylated peptides captured by hydroxy acid-modified metal oxide chromatography.", "journal": "Journal of proteome research", "date": "2008", "authors": "Kyono Y, Sugiyama N, Imami K, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "O15427", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15427" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] }, { "title": "Malic enzyme in human liver. Intracellular distribution, purification and properties of cytosolic isozyme.", "journal": "European journal of biochemistry", "date": "1991", "authors": "Zelewski M, Swierczynski J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "1935931", "url": "https://glygen.org/publication/PubMed/1935931" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O15427", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15427" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Computational analyses of mammalian lactate dehydrogenases: human, mouse, opossum and platypus LDHs.", "journal": "Computational biology and chemistry", "date": "2009", "authors": "Holmes RS, Goldberg E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "19679512", "url": "https://glygen.org/publication/PubMed/19679512" } ] }, { "title": "Properties of human testis-specific lactate dehydrogenase expressed from Escherichia coli.", "journal": "The Biochemical journal", "date": "1991", "authors": "LeVan KM, Goldberg E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "1996957", "url": "https://glygen.org/publication/PubMed/1996957" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" }, { "database": "iPTMnet", "id": "O15427", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15427" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Basolateral sorting signals regulating tissue-specific polarity of heteromeric monocarboxylate transporters in epithelia.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2011", "authors": "Castorino JJ, Deborde S, Deora A, Schreiner R, Gallagher-Colombo SM, Rodriguez-Boulan E, Philp NJ", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" } ], "reference": [ { "type": "PubMed", "id": "21199217", "url": "https://glygen.org/publication/PubMed/21199217" } ] }, { "title": "Structure-function relationships in dihydrolipoamide acyltransferases.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Reed LJ, Hackert ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "2188967", "url": "https://glygen.org/publication/PubMed/2188967" } ] }, { "title": "A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans.", "journal": "Science (New York, N.Y.)", "date": "2012", "authors": "Bricker DK, Taylor EB, Schell JC, Orsak T, Boutron A, Chen YC, Cox JE, Cardon CM, Van Vranken JG, Dephoure N, Redin C, Boudina S, Gygi SP, Brivet M, Thummel CS, Rutter J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "22628558", "url": "https://glygen.org/publication/PubMed/22628558" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" }, { "database": "iPTMnet", "id": "O15427", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15427" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Biophysical characterization of the dimer and tetramer interface interactions of the human cytosolic malic enzyme.", "journal": "PloS one", "date": "2012", "authors": "Murugan S, Hung HC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "23284632", "url": "https://glygen.org/publication/PubMed/23284632" } ] }, { "title": "Crucial residue involved in L-lactate recognition by human monocarboxylate transporter 4 (hMCT4).", "journal": "PloS one", "date": "2013", "authors": "Sasaki S, Kobayashi M, Futagi Y, Ogura J, Yamaguchi H, Takahashi N, Iseki K", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" } ], "reference": [ { "type": "PubMed", "id": "23935841", "url": "https://glygen.org/publication/PubMed/23935841" } ] }, { "title": "Monocarboxylic acid transport.", "journal": "Comprehensive Physiology", "date": "2013", "authors": "Halestrap AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-433692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-433692" } ], "reference": [ { "type": "PubMed", "id": "24265240", "url": "https://glygen.org/publication/PubMed/24265240" } ] }, { "title": "Epitopes of human testis-specific lactate dehydrogenase deduced from a cDNA sequence.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1987", "authors": "Millan JL, Driscoll CE, LeVan KM, Goldberg E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "2440048", "url": "https://glygen.org/publication/PubMed/2440048" } ] }, { "title": "Structural characteristics of the nonallosteric human cytosolic malic enzyme.", "journal": "Biochimica et biophysica acta", "date": "2014", "authors": "Hsieh JY, Li SY, Chen MC, Yang PC, Chen HY, Chan NL, Liu JH, Hung HC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "24998673", "url": "https://glygen.org/publication/PubMed/24998673" } ] }, { "title": "O-GlcNAc-induced nuclear translocation of hnRNP-K is associated with progression and metastasis of cholangiocarcinoma.", "journal": "Molecular oncology", "date": "2019", "authors": "Phoomak C, Park D, Silsirivanit A, Sawanyawisuth K, Vaeteewoottacharn K, Detarya M, Wongkham C, Lebrilla CB, Wongkham S", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15427", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15427" } ], "reference": [ { "type": "PubMed", "id": "30444036", "url": "https://glygen.org/publication/PubMed/30444036" } ] }, { "title": "Monocarboxylate transporter 4 (MCT4) is a high affinity transporter capable of exporting lactate in high-lactate microenvironments.", "journal": "The Journal of biological chemistry", "date": "2019-12-27", "authors": "Contreras-Baeza Yasna, Sandoval Pamela Y, Alarc\u00f3n Romina, Galaz Alex, Cort\u00e9s-Molina Francisca, Alegr\u00eda Karin, Baeza-Lehnert Felipe, Arce-Molina Robinson, Guequ\u00e9n Anita, Flores Carlos A, San Mart\u00edn Alejandro, Barros L Felipe", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" } ], "reference": [ { "type": "PubMed", "id": "31719150", "url": "https://glygen.org/publication/PubMed/31719150" } ] }, { "title": "The tissue expression of MCT3, MCT8, and MCT9 genes in women with breast cancer.", "journal": "Genes & genomics", "date": "2021", "authors": "Sohrabi E, Moslemi M, Rezaie E, Nafissi N, Khaledi M, Afkhami H, Fathi J, Zekri A", "evidence": [ { "database": "RefSeq", "id": "NP_001035887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035887" } ], "reference": [ { "type": "PubMed", "id": "34097251", "url": "https://glygen.org/publication/PubMed/34097251" } ] }, { "title": "The cDNA and protein sequences of human lactate dehydrogenase B.", "journal": "The Biochemical journal", "date": "1987", "authors": "Sakai I, Sharief FS, Pan YC, Li SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "3435492", "url": "https://glygen.org/publication/PubMed/3435492" } ] }, { "title": "MCT4 as a potential therapeutic target to augment gemcitabine chemosensitivity in resected pancreatic cancer.", "journal": "Cellular oncology (Dordrecht)", "date": "2021", "authors": "Lee SH, Hwang HK, Lee WJ, Kang CM", "evidence": [ { "database": "RefSeq", "id": "NP_001035887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035887" } ], "reference": [ { "type": "PubMed", "id": "34791637", "url": "https://glygen.org/publication/PubMed/34791637" } ] }, { "title": "Identification and Validation of a Prognostic Model Based on Three MVI-Related Genes in Hepatocellular Carcinoma.", "journal": "International journal of biological sciences", "date": "2022", "authors": "Tang Y, Xu L, Ren Y, Li Y, Yuan F, Cao M, Zhang Y, Deng M, Yao Z", "evidence": [ { "database": "RefSeq", "id": "NP_001035887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035887" } ], "reference": [ { "type": "PubMed", "id": "34975331", "url": "https://glygen.org/publication/PubMed/34975331" } ] }, { "title": "Monocarboxylate transporter 4 inhibition potentiates hepatocellular carcinoma immunotherapy through enhancing T cell infiltration and immune attack.", "journal": "Hepatology (Baltimore, Md.)", "date": "2022-01-19", "authors": "Fang Yuan, Liu Weiren, Tang Zheng, Ji Xiang, Zhou Yufu, Song Shushu, Tian Mengxin, Tao Chenyang, Huang Run, Zhu Guiqi, Jiang Xifei, Gao Jun, Qu Weifeng, Wang Han, Zhou Peiyun, Wu Xiaoling, Jin Lei, Sun Haixiang, Ding Zhenbin, Peng Yuanfei, Zhao Shimin, Zhou Jian, Fan Jia, Xu Wei, Shi Yinghong", "evidence": [ { "database": "RefSeq", "id": "NP_001035887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035887" } ], "reference": [ { "type": "PubMed", "id": "35043976", "url": "https://glygen.org/publication/PubMed/35043976" } ] }, { "title": "O-GlcNAcylation promotes fatty acid synthase activity under nutritional stress as a pro-survival mechanism in cancer cells.", "journal": "Proteomics", "date": "2022", "authors": "Wong YK, Wang J, Lim TK, Lin Q, Yap CT, Shen HM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15427", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15427" } ], "reference": [ { "type": "PubMed", "id": "35083852", "url": "https://glygen.org/publication/PubMed/35083852" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15427", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15427" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Involvement of SLC16A1/MCT1 and SLC16A3/MCT4 in l-lactate transport in the hepatocellular carcinoma cell line.", "journal": "Biopharmaceutics & drug disposition", "date": "2022-10", "authors": "Mukai Yuto, Yamaguchi Atsushi, Sakuma Tomoya, Nadai Takanobu, Furugen Ayako, Narumi Katsuya, Kobayashi Masaki", "evidence": [ { "database": "RefSeq", "id": "NP_001035887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035887" } ], "reference": [ { "type": "PubMed", "id": "36104287", "url": "https://glygen.org/publication/PubMed/36104287" } ] }, { "title": "Specific inhibition of pyruvate transport in rat liver mitochondria and human erythrocytes by alpha-cyano-4-hydroxycinnamate.", "journal": "The Biochemical journal", "date": "1974", "authors": "Halestrap AP, Denton RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "4822737", "url": "https://glygen.org/publication/PubMed/4822737" } ] }, { "title": "Molecular characterization of a membrane transporter for lactate, pyruvate, and other monocarboxylates: implications for the Cori cycle.", "journal": "Cell", "date": "1994", "authors": "Garcia CK, Goldstein JL, Pathak RK, Anderson RG, Brown MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-433692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-433692" } ], "reference": [ { "type": "PubMed", "id": "8124722", "url": "https://glygen.org/publication/PubMed/8124722" } ] }, { "title": "Deficiency of the voltage-dependent anion channel: a novel cause of mitochondriopathy.", "journal": "Pediatric research", "date": "1996", "authors": "Huizing M, Ruitenbeek W, Thinnes FP, DePinto V, Wendel U, Trijbels FJ, Smit LM, ter Laak HJ, van den Heuvel LP", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "8726225", "url": "https://glygen.org/publication/PubMed/8726225" } ] }, { "title": "Generation of monoclonal antibodies to integrin-associated proteins. Evidence that alpha3beta1 complexes with EMMPRIN/basigin/OX47/M6.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Berditchevski F, Chang S, Bodorova J, Hemler ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-210991", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210991" } ], "reference": [ { "type": "PubMed", "id": "9360995", "url": "https://glygen.org/publication/PubMed/9360995" } ] }, { "title": "Cloning and sequencing of four new mammalian monocarboxylate transporter (MCT) homologues confirms the existence of a transporter family with an ancient past.", "journal": "Biochem. J.", "date": "1998", "authors": "Price NT, Jackson VN, Halestrap AP", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" } ], "reference": [ { "type": "PubMed", "id": "9425115", "url": "https://glygen.org/publication/PubMed/9425115" } ] }, { "title": "Involvement of an active-site Zn2+ ligand in the catalytic mechanism of human glyoxalase I.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Ridderstrom M, Cameron AD, Jones TA, Mannervik B", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "9705294", "url": "https://glygen.org/publication/PubMed/9705294" } ] }, { "title": "Human monocarboxylate transporter 2 (MCT2) is a high affinity pyruvate transporter.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Lin RY, Vera JC, Chaganti RS, Golde DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-433692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-433692" } ], "reference": [ { "type": "PubMed", "id": "9786900", "url": "https://glygen.org/publication/PubMed/9786900" } ] } ], "pathway": [ { "id": "hsa:9123", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9123", "resource": "KEGG Pathway" }, { "id": "R-HSA-210991", "name": "Basigin interactions", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210991", "resource": "Reactome", "description": "Basigin interactions" }, { "id": "R-HSA-433692", "name": "Proton-coupled monocarboxylate transport", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-433692", "resource": "Reactome", "description": "Proton-coupled monocarboxylate transport" }, { "id": "R-HSA-70268", "name": "Pyruvate metabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268", "resource": "Reactome", "description": "Pyruvate metabolism" } ], "orthologs": [ { "uniprot_canonical_ac": "O35910-1", "protein_name": "Monocarboxylate transporter 4", "gene_name": "Slc16a3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGGAVVDEGPTGIKAPDGGWGWAVLFGCFIITGFSYAFPKAVSVFFKELMHEFGIGYSDTAWISSILLAMLYGTGPLCSMCVNRFGCRPVMLVGGLFASLGMVAASFCRSIIQIYLTTGVITGLGLALNFQPSLIMLNRYFNKRRPMANGLAAAGSPVFLCALSPLGQLLQDHYGWRGGFLILGGLLLNCCVCAALMRPLVAPQASGGAEPHGPQRPSPRLLDLSVFRDRGFLIYAVAASIMVLGLFVPPVFVVSYAKDMGVPDTKAAFLLTILGFIDIFARPTAGFITGLKKVRPYSVYLFSFAMFFNGFTDLTGSTASDYGGLVVFCIFFGISYGMVGALQFEVLMAIVGTQKFSSAIGLVLLLEAVAVLIGPPSGGKLLDATKVYKYVFILAGAEVLTSSLVLLLGNFFCIGKRKRPEVTKPEEVASEEEKLHKPPVDVRVDSREVEHFLKAEPEKNGEVVHTPETSV", "length": 471 }, "evidence": [ { "id": "45928377", "url": "http://www.informatics.jax.org/homology/45928377", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P57787-1", "protein_name": "Monocarboxylate transporter 4", "gene_name": "Slc16a3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGGAVVDEGPTGIKAPDGGWGWAVLFGCFIITGFSYAFPKAVSVFFKELMHEFGIGYSDTAWISSILLAMLYGTGPLCSVCVNRFGCRPVMLVGGLFASLGMVAASFCRSIIQIYLTTGVITGLGLALNFQPSLIMLNRYFNKRRPIANGLAAAGSPVFLCALSPLGQLLQDHYGWRGGFLILGGLLLNCCVCAALMRPLVAPQVGGGTEPRGPQRPPQRLLDLSVFRDRGFLIYAVAASIMVLGLFVPPVFVVSYAKDMGVPDTKAAFLLTILGFIDIFARPTAGFITGLKKVRPYSVYLFSFAMFFNGFTDLTGSTATDYGGLVVFCIFFGISYGMVGALQFEVLMAIVGTQKFSSAIGLVLLLEAVAVLIGPPSGGKLLDATKVYKYVFILAGAEVLTSSLVLLLGNFFCIGKRKRPEVTEPEEVASEEKLHKPPVDVGVDSREVEHFLKAEPEKNGEVVHTPETSV", "length": 470 }, "evidence": [ { "id": "45928377", "url": "http://www.informatics.jax.org/homology/45928377", "database": "MGI" }, { "id": "O15427", "url": "https://omabrowser.org/oma/group/O15427/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" } ], "pmid": "" }, { "name": "lateral plasma membrane", "id": "GO:0016328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016328", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" } ], "pmid": "" }, { "name": "monocarboxylic acid transmembrane transporter activity", "id": "GO:0008028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008028", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" } ], "pmid": "" }, { "name": "pyruvate transmembrane transporter activity", "id": "GO:0050833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050833", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" } ], "pmid": "" }, { "name": "lactate:proton symporter activity", "id": "GO:0015650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015650", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "lactate transmembrane transport", "id": "GO:0035873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035873", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" } ], "pmid": "" }, { "name": "monocarboxylic acid transport", "id": "GO:0015718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015718", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" } ], "pmid": "" }, { "name": "pyruvate transmembrane transport", "id": "GO:1901475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901475", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" } ], "pmid": "" }, { "name": "pyruvate catabolic process", "id": "GO:0042867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042867", "evidence": [ { "database": "UniProtKB", "id": "O15427", "url": "https://www.uniprot.org/uniprot/O15427" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "29415", "name": "", "equation": "(S)-lactate(in) + H(+)(in) = (S)-lactate(out) + H(+)(out)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "29415", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/29415" } ] }, { "id": "64720", "name": "", "equation": "H(+)(out) + pyruvate(out) = H(+)(in) + pyruvate(in)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "64720", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/64720" } ] } ], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 464 ], "snv_sites": [ 72, 219, 351, 408, 464 ], "glycation_sites": [], "phosphorylation_sites": [ 436, 460, 463, 464 ], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 69 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }