{ "uniprot_canonical_ac": "O15431-1", "uniprot_ac": "O15431", "uniprot_id": "COPT1_HUMAN", "mass": { "chemical_mass": 21091.0, "monoisotopic_mass": 21091.0 }, "refseq": { "ac": "NP_001850", "name": "high affinity copper uptake protein 1", "summary": "The protein encoded by this gene is a high-affinity copper transporter found in the cell membrane. The encoded protein functions as a homotrimer to effect the uptake of dietary copper. [provided by RefSeq, Aug 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001850" }, "gene_names": [ { "name": "SLC31A1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15431", "id": "O15431" }, { "name": "COPT1; CTR1; NSCT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001850", "id": "NP_001850" }, { "name": "COPT1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15431", "id": "O15431" }, { "name": "CTR1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15431", "id": "O15431" }, { "name": "SLC31A1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001850", "id": "NP_001850" } ], "protein_names": [ { "name": "High affinity copper uptake protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15431" }, { "name": "Copper transporter 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15431" }, { "name": "Solute carrier family 31 member 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15431" }, { "name": "copper transport 1 homolog; copper transporter 1; solute carrier family 31 (copper transporters), member 1; solute carrier family 31 (copper transporter), member 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001850", "id": "NP_001850" }, { "name": "hCTR1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15431" }, { "name": "high affinity copper uptake protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001850", "id": "NP_001850" } ], "function": [ { "annotation": "Biochemical characterization and subcellular localization", "evidence": [ { "database": "RefSeq", "id": "NP_001850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001850" }, { "database": "PubMed", "id": "12023893", "url": "https://glygen.org/publication/PubMed/12023893" } ] }, { "annotation": "Cuproptosis-related gene SLC31A1 expression correlates with the prognosis and tumor immune microenvironment in glioma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001850" }, { "database": "PubMed", "id": "37610668", "url": "https://glygen.org/publication/PubMed/37610668" } ] }, { "annotation": "Cuproptosis-related gene SLC31A1: prognosis values and potential biological functions in cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001850" }, { "database": "PubMed", "id": "37853210", "url": "https://glygen.org/publication/PubMed/37853210" } ] }, { "annotation": "Fundamentally conserved mechanism for high affinity copper uptake through the Ctr proteins in yeast and humans", "evidence": [ { "database": "RefSeq", "id": "NP_001850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001850" }, { "database": "PubMed", "id": "11983704", "url": "https://glygen.org/publication/PubMed/11983704" } ] }, { "annotation": "High expression of cuproptosis-related SLC31A1 gene in relation to unfavorable outcome and deregulated immune cell infiltration in breast cancer: an analysis based on public databases. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001850" }, { "database": "PubMed", "id": "35996075", "url": "https://glygen.org/publication/PubMed/35996075" } ] }, { "annotation": "Identification of cuproptosis-related gene SLC31A1 and upstream LncRNA-miRNA regulatory axis in breast cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001850" }, { "database": "PubMed", "id": "37884650", "url": "https://glygen.org/publication/PubMed/37884650" } ] }, { "annotation": "Mobilizes copper(1+) out of the endosomal compartment, making copper(1+) available for export out of the cells.", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431#function" }, { "database": "UniProtKB", "id": "Q8K211", "url": "https://www.uniprot.org/uniprot/Q8K211#function" } ] }, { "annotation": "The protein encoded by this gene is a high-affinity copper transporter found in the cell membrane. The encoded protein functions as a homotrimer to effect the uptake of dietary copper. [provided by RefSeq, Aug 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001850" } ] }, { "annotation": "Uniporter that mediates the transport of copper(1+) from the extracellular space to the cytoplasm, across the plasma membrane (PubMed:11734551, PubMed:16135512, PubMed:17525160, PubMed:19740744, PubMed:20451502, PubMed:20569931, PubMed:23658018) and delivers directly copper(1+) to specific chaperone such as ATOX1, via a copper(1+)- mediated transient interaction between the C-terminal domain and a copper(1+) chaperone, thus controlling intracellular copper(1+) levels (PubMed:26745413, PubMed:11734551, PubMed:17525160, PubMed:20451502, PubMed:19740744, PubMed:16135512, PubMed:23658018, PubMed:20569931). May function in copper(1+) import from the apical membrane thus may drive intestinal copper absorption (By similarity). The copper(1+) transport mechanism is sodium-independent, saturable and of high-affinity (PubMed:11734551). Also mediates the uptake of silver(1+) (PubMed:20569931). May function in the influx of the platinum-containing chemotherapeutic agents (PubMed:20451502, PubMed:20569931). The platinum-containing chemotherapeutic agents uptake is saturable (By similarity). In vitro, mediates the transport of cadmium(2+) into cells (PubMed:33294387). Also participates in the first step of copper(2+) acquisition by cells through a direct transfer of copper(2+) from copper(2+) carriers in blood, such as ALB to the N-terminal domain of SLC31A1, leading to copper(2+) reduction and probably followed by copper(1+) stabilization (PubMed:30489586). In addition, functions as a redox sensor to promote angiogenesis in endothelial cells, in a copper(1+) transport independent manner, by transmitting the VEGF-induced ROS signal through a sulfenylation at Cys-189 leadin g to a subsequent disulfide bond formation between SLC31A1 and KDR (PubMed:35027734). The SLC31A1-KDR complex is then co-internalized to early endosomes, driving a sustained VEGFR2 signaling (PubMed:35027734).", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431#function" }, { "database": "PubMed", "id": "20569931", "url": "https://glygen.org/publication/PubMed/20569931" }, { "database": "PubMed", "id": "16135512", "url": "https://glygen.org/publication/PubMed/16135512" }, { "database": "PubMed", "id": "35027734", "url": "https://glygen.org/publication/PubMed/35027734" }, { "database": "PubMed", "id": "26745413", "url": "https://glygen.org/publication/PubMed/26745413" }, { "database": "PubMed", "id": "17525160", "url": "https://glygen.org/publication/PubMed/17525160" }, { "database": "PubMed", "id": "11734551", "url": "https://glygen.org/publication/PubMed/11734551" }, { "database": "PubMed", "id": "23658018", "url": "https://glygen.org/publication/PubMed/23658018" }, { "database": "UniProtKB", "id": "Q8K211", "url": "https://www.uniprot.org/uniprot/Q8K211#function" }, { "database": "PubMed", "id": "19740744", "url": "https://glygen.org/publication/PubMed/19740744" }, { "database": "UniProtKB", "id": "Q9JK41", "url": "https://www.uniprot.org/uniprot/Q9JK41#function" }, { "database": "PubMed", "id": "30489586", "url": "https://glygen.org/publication/PubMed/30489586" }, { "database": "PubMed", "id": "33294387", "url": "https://glygen.org/publication/PubMed/33294387" }, { "database": "PubMed", "id": "20451502", "url": "https://glygen.org/publication/PubMed/20451502" } ] } ], "disease": [ { "disease_id": "MONDO:0957211", "recommended_name": { "id": "MONDO:0957211", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0957211", "name": "neurodegeneration and seizures due to copper transport defect", "description": "" }, "synonyms": [ { "id": "MIM:620306", "resource": "MIM", "url": "https://www.omim.org/entry/620306", "name": "Neurodegeneration and seizures due to copper transport defect", "description": "Neurodegeneration and seizures due to copper transport defect" } ], "evidence": [ { "id": "620306", "database": "MIM", "url": "https://www.omim.org/entry/620306" } ] } ], "snv": [ { "evidence": [ { "id": "rs1480983327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1480983327" }, { "id": "rs1480983327", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1480983327" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 106, "end_pos": 106, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSM->NST).", "chr_id": "9", "chr_pos": "113258808", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M106", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1477457884", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1477457884" }, { "id": "rs1477457884", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1477457884" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 15, "end_pos": 15, "sequence_org": "N", "sequence_mut": "Q", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->QST).", "chr_id": "9", "chr_pos": "113256188_113256189i", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N15", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1397225946", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1397225946" }, { "id": "rs1397225946", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1397225946" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 15, "end_pos": 15, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->SST).", "chr_id": "9", "chr_pos": "113256192", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N15", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1318727466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1318727466" }, { "id": "rs1318727466", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1318727466#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 17, "end_pos": 17, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSA).", "chr_id": "9", "chr_pos": "113256197", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T17", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O15431", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15431" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 17, "end_pos": 17, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NST->NSI).", "chr_id": "9", "chr_pos": "113256198", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T17", "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": "rs145269316", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145269316" }, { "id": "rs145269316", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145269316" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 27, "end_pos": 27, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "9", "chr_pos": "113256228", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T27", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1234729665", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1234729665" }, { "id": "rs1234729665", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1234729665" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 27, "end_pos": 27, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->P).", "chr_id": "9", "chr_pos": "113256227", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T27", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1175459607", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1175459607" }, { "id": "rs1175459607", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1175459607#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 66, "end_pos": 66, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTA->NTT).", "chr_id": "9", "chr_pos": "113257179", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A66", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 139, "end_pos": 139, "sequence_org": "H", "sequence_mut": "A", "comment": "Decreases of about 40% the copper(1+) transport activity.", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "PubMed", "id": "16135512", "url": "https://glygen.org/publication/PubMed/16135512" } ] }, { "start_pos": 139, "end_pos": 139, "sequence_org": "H", "sequence_mut": "R", "comment": "Dramatically decreases copper(1+) affinity. Reduces copper(1+) uptake; when associated with L-150 and L-154. Does not affect cell membrane expression.", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "PubMed", "id": "16135512", "url": "https://glygen.org/publication/PubMed/16135512" }, { "database": "PubMed", "id": "23658018", "url": "https://glygen.org/publication/PubMed/23658018" } ] }, { "start_pos": 150, "end_pos": 150, "sequence_org": "M", "sequence_mut": "I", "comment": "Reduces of about 30% the copper(1+) transport activity; when associated with I-154. Does not affect copper(1+) affinity; when associated with I-154. Abolishes silver(1+) transport activity; when associated with I-154.", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "PubMed", "id": "20569931", "url": "https://glygen.org/publication/PubMed/20569931" }, { "database": "PubMed", "id": "16135512", "url": "https://glygen.org/publication/PubMed/16135512" } ] }, { "start_pos": 150, "end_pos": 150, "sequence_org": "M", "sequence_mut": "L", "comment": "Reduces copper(1+) uptake; when associated with L-154. Reduces copper(1+) uptake; when associated with L-154 and R-139. Reduces copper(1+) uptake; when associated with L-154 and 188-A--A-190.", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "PubMed", "id": "23658018", "url": "https://glygen.org/publication/PubMed/23658018" } ] }, { "start_pos": 154, "end_pos": 154, "sequence_org": "M", "sequence_mut": "A", "comment": "Inhibits copper(1+)-induced MAPK activation. Loss of copper(1+)-induced endothelil cell (EC) migration and capillary formation.", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "PubMed", "id": "35027734", "url": "https://glygen.org/publication/PubMed/35027734" } ] }, { "start_pos": 154, "end_pos": 154, "sequence_org": "M", "sequence_mut": "I", "comment": "Reduces of about 30% the copper(1+) transport activity; when associated with I-150. Does not affect copper(1+) affinity; when associated with I-150. Abolishes silver(1+) transport activity when associated with I-150.", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "PubMed", "id": "20569931", "url": "https://glygen.org/publication/PubMed/20569931" }, { "database": "PubMed", "id": "16135512", "url": "https://glygen.org/publication/PubMed/16135512" } ] }, { "start_pos": 154, "end_pos": 154, "sequence_org": "M", "sequence_mut": "L", "comment": "Reduces copper(1+) uptake; when associated with L-150. Reduces copper(1+) uptake; when associated with L-150 and R-139. Reduces copper(1+) uptake; when associated with L-150 and 188-A--A-190.", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "PubMed", "id": "23658018", "url": "https://glygen.org/publication/PubMed/23658018" } ] }, { "start_pos": 156, "end_pos": 156, "sequence_org": "Y", "sequence_mut": "A", "comment": "Dramatically affects copper(1+) transport activity.", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "PubMed", "id": "16135512", "url": "https://glygen.org/publication/PubMed/16135512" } ] }, { "start_pos": 161, "end_pos": 161, "sequence_org": "C", "sequence_mut": "S", "comment": "Markedly decreases the copper(1+) transport activity; when associated with S-189.", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "PubMed", "id": "16135512", "url": "https://glygen.org/publication/PubMed/16135512" } ] }, { "start_pos": 179, "end_pos": 190, "sequence_org": "KAVVVDITEHCH", "sequence_mut": "", "comment": "Does not affect expression. Does not affect cell membrane localization. Significantly reduces copper(1+) transport activity.", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "PubMed", "id": "16135512", "url": "https://glygen.org/publication/PubMed/16135512" } ] }, { "start_pos": 180, "end_pos": 190, "sequence_org": "AVVVDITEHCH", "sequence_mut": "", "comment": "Increases copper(1+) uptake. Reduces affinity for copper(1+).", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "PubMed", "id": "23658018", "url": "https://glygen.org/publication/PubMed/23658018" } ] }, { "start_pos": 184, "end_pos": 190, "sequence_org": "DITEHCH", "sequence_mut": "", "comment": "Increases copper(1+) uptake.", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "PubMed", "id": "23658018", "url": "https://glygen.org/publication/PubMed/23658018" } ] }, { "start_pos": 185, "end_pos": 190, "sequence_org": "ITEHCH", "sequence_mut": "", "comment": "Does not affect expression. Does not affect cell membrane localization. Moderately affects copper(1+) transport activity.", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "PubMed", "id": "16135512", "url": "https://glygen.org/publication/PubMed/16135512" } ] }, { "start_pos": 188, "end_pos": 190, "sequence_org": "HCH", "sequence_mut": "AAA", "comment": "Increases copper(1+) uptake. Reduces affinity for copper(1+). Reduces copper(1+) uptake; when associated with L-150 and L-154. Impairs endocytosis in response to higher extracellular copper(1+) concentration.", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "PubMed", "id": "26745413", "url": "https://glygen.org/publication/PubMed/26745413" }, { "database": "PubMed", "id": "23658018", "url": "https://glygen.org/publication/PubMed/23658018" } ] }, { "start_pos": 188, "end_pos": 190, "sequence_org": "HCH", "sequence_mut": "ACA", "comment": "Decreases of 45-fold copper(1+) affinity.", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "PubMed", "id": "26745413", "url": "https://glygen.org/publication/PubMed/26745413" } ] }, { "start_pos": 189, "end_pos": 189, "sequence_org": "C", "sequence_mut": "A", "comment": "Does not affect copper(1+)-induced MAPK activation. Does not affect copper(1+)-induced endothelial cells migration and capillary formation. Almost completely loss of VEGFA-induced internalization of KDR and SLC31A1. Almost completely loss of VEGFA-induced interaction between KDR and SLC31A1. Decreases of 200-fold affinity for copper(1+) ion. Loss of ATOX1 interaction in the absence of copper(1+).", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "PubMed", "id": "35027734", "url": "https://glygen.org/publication/PubMed/35027734" }, { "database": "PubMed", "id": "26745413", "url": "https://glygen.org/publication/PubMed/26745413" } ] }, { "start_pos": 189, "end_pos": 189, "sequence_org": "C", "sequence_mut": "S", "comment": "Markedly decreases the copper(1+) transport activity; when associated with S-161.", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "PubMed", "id": "16135512", "url": "https://glygen.org/publication/PubMed/16135512" } ] }, { "start_pos": 3, "end_pos": 3, "sequence_org": "H", "sequence_mut": "A", "comment": "Decreases affinity towards copper(1+).", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ] }, { "start_pos": 40, "end_pos": 45, "sequence_org": "MMMMPM", "sequence_mut": "AAAAPA", "comment": "Affects homotrimer formation; when associated with 7-A--A-12. Does not affect localization at the plasma membrane; when associated with 7-A--A-12.", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "PubMed", "id": "15326162", "url": "https://glygen.org/publication/PubMed/15326162" } ] }, { "start_pos": 5, "end_pos": 5, "sequence_org": "H", "sequence_mut": "A", "comment": "Affects copper(2+) binding. Increases the efficiency of the reduction.", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ] }, { "start_pos": 6, "end_pos": 6, "sequence_org": "H", "sequence_mut": "A", "comment": "Increases the efficiency of the reduction.", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ] }, { "start_pos": 7, "end_pos": 12, "sequence_org": "MGMSYM", "sequence_mut": "AGASYA", "comment": "Affects homotrimer formation; when associated with 40-A--A-45. Does not affect localization at the plasma membrane; when associated with 40-A--A-45.", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "PubMed", "id": "15326162", "url": "https://glygen.org/publication/PubMed/15326162" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "75.25", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136868", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136868" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "80.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136868", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136868" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "72.99", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136868", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136868" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000136868", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136868" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "82.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136868", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136868" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "88.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136868", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136868" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000136868", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136868" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "77.88", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136868", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136868" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "77.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136868", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136868" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "51.75", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000136868", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136868" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "92.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136868", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136868" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "84.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136868", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136868" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "79.79", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136868", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136868" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O15431", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15431" } ], "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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15431", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15431" } ], "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": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O15431", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15431" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O15431", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15431" } ], "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": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O15431", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15431" } ], "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": "O15431", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15431" } ], "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": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O15431", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15431" } ], "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": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O15431", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15431" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O15431", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15431" } ], "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": "O15431", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15431" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O15431", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15431" } ], "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": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O15431", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15431" } ], "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": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "common_name": "Human" } ], "gene": [ { "name": "SLC31A1", "url": "https://www.uniprot.org/uniprot/O15431", "locus": { "chromosome": "9", "start_pos": 113264492, "end_pos": 113221544, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000136868", "url": "https://www.ensembl.org/id/ENSG00000136868" } ] } } ], "crossref": [ { "id": "ENSG00000136868", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136868", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O15431", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15431", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "7.2.2.8", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=7.2.2.8&UniProtAcc=O15431", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "SLC31A1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC31A1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "1317", "url": "https://www.ncbi.nlm.nih.gov/gene/1317", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "11016", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11016", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O15431", "url": "https://www.ebi.ac.uk/intact/interactors/id:O15431*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR007274", "url": "https://www.ebi.ac.uk/interpro/entry/IPR007274", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:1317", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1317", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603085", "url": "http://www.omim.org/entry/603085", "database": "MIM", "categories": [ "Other" ] }, { "id": "620306", "url": "http://www.omim.org/entry/620306", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O15431", "url": "https://www.nextprot.org/entry/NX_O15431", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "GPKCNMN", "url": "https://omabrowser.org/oma/group/GPKCNMN/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3399710at2759", "url": "http://www.orthodb.org/?query=3399710at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12483", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12483", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12483:SF22", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12483:SF22", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2LS2", "url": "https://www.rcsb.org/structure/2LS2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2LS3", "url": "https://www.rcsb.org/structure/2LS3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2LS4", "url": "https://www.rcsb.org/structure/2LS4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF04145", "url": "http://pfam.xfam.org/family/PF04145", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O15431", "url": "https://pharos.nih.gov/targets/O15431", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O15431", "url": "http://purl.obolibrary.org/obo/PR_O15431", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-425410", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425410", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001850", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "75207", "url": "https://www.rhea-db.org/rhea/75207", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "75211", "url": "https://www.rhea-db.org/rhea/75211", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15431-1", "url": "https://www.uniprot.org/uniprot/O15431-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDHSHHMGMSYMDSNSTMQPSHHHPTTSASHSHGGGDSSMMMMPMTFYFGFKNVELLFSGLVINTAGEMAGAFVAVFLLAMFYEGLKIARESLLRKSQVSIRYNSMPVPGPNGTILMETHKTVGQQMLSFPHLLQTVLHIIQVVISYFLMLIFMTYNGYLCIAVAAGAGTGYFLFSWKKAVVVDITEHCH", "length": 190, "header": "sp|O15431-1|COPT1_HUMAN Isoform 1 of High affinity copper uptake protein 1 OS=Homo sapiens OX=9606 GN=SLC31A1 PE=1 SV=1 CANONICAL=O15431-1" }, "isoforms": [ { "isoform_ac": "O15431-1", "url": "", "sequence": { "sequence": "MDHSHHMGMSYMDSNSTMQPSHHHPTTSASHSHGGGDSSMMMMPMTFYFGFKNVELLFSGLVINTAGEMAGAFVAVFLLAMFYEGLKIARESLLRKSQVSIRYNSMPVPGPNGTILMETHKTVGQQMLSFPHLLQTVLHIIQVVISYFLMLIFMTYNGYLCIAVAAGAGTGYFLFSWKKAVVVDITEHCH", "length": 190, "header": "sp|O15431-1|COPT1_HUMAN Isoform 1 of High affinity copper uptake protein 1 OS=Homo sapiens OX=9606 GN=SLC31A1 PE=1 SV=1 CANONICAL=O15431-1" }, "locus": { "chromosome": "9", "start_pos": 113260470, "end_pos": 113256149, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000374212.5", "url": "https://www.ensembl.org/id/ENST00000374212.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000363329.4", "url": "https://www.ensembl.org/id/ENSP00000363329.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 15, "start_aa": "Asn", "end_pos": 15, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn15", "evidence": [ { "id": "O15431", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15431#ptm_processing" }, { "id": "17525160", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17525160" }, { "id": "17525160", "database": "Automatic Literature Mining", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/17525160" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine O-GalNAcylation", "start_pos": 27, "start_aa": "Thr", "end_pos": 27, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr27", "evidence": [ { "id": "O15431", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15431#ptm_processing" }, { "id": "17525160", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17525160" }, { "id": "19684018", "database": "Automatic Literature Mining", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/19684018" }, { "id": "19684018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19684018" }, { "id": "17525160", "database": "Automatic Literature Mining", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/17525160" } ] } ], "phosphorylation": [ { "start_pos": 114, "end_pos": 114, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O15431", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15431" } ], "site_lbl": "Thr114" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported" ], "publication": [ { "title": "Nramp2 expression is associated with pH-dependent iron uptake across the apical membrane of human intestinal Caco-2 cells.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Tandy S, Williams M, Leggett A, Lopez-Jimenez M, Dedes M, Ramesh B, Srai SK, Sharp P", "evidence": [ { "database": "Reactome", "id": "R-HSA-425410", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425410" } ], "reference": [ { "type": "PubMed", "id": "10625641", "url": "https://glygen.org/publication/PubMed/10625641" } ] }, { "title": "Biochemical characterization of the human copper transporter Ctr1.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Lee J, Pena MM, Nose Y, Thiele DJ", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "Reactome", "id": "R-HSA-425410", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425410" } ], "reference": [ { "type": "PubMed", "id": "11734551", "url": "https://glygen.org/publication/PubMed/11734551" } ] }, { "title": "Biochemical and genetic analyses of yeast and human high affinity copper transporters suggest a conserved mechanism for copper uptake.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Puig S, Lee J, Lau M, Thiele DJ", "evidence": [ { "database": "RefSeq", "id": "NP_001850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001850" } ], "reference": [ { "type": "PubMed", "id": "11983704", "url": "https://glygen.org/publication/PubMed/11983704" } ] }, { "title": "Biochemical characterization and subcellular localization of human copper transporter 1 (hCTR1).", "journal": "Biochem. J.", "date": "2002", "authors": "Klomp AE, Tops BB, Van Denberg IE, Berger R, Klomp LW", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "RefSeq", "id": "NP_001850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001850" } ], "reference": [ { "type": "PubMed", "id": "12023893", "url": "https://glygen.org/publication/PubMed/12023893" } ] }, { "title": "Cisplatin stabilizes a multimeric complex of the human Ctr1 copper transporter: requirement for the extracellular methionine-rich clusters.", "journal": "The Journal of biological chemistry", "date": "2004-11-05", "authors": "Guo Yan, Smith Kathryn, Petris Michael J", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "reference": [ { "type": "PubMed", "id": "15326162", "url": "https://glygen.org/publication/PubMed/15326162" } ] }, { "title": "In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations.", "journal": "Blood", "date": "2005", "authors": "Schimanski LM, Drakesmith H, Merryweather-Clarke AT, Viprakasit V, Edwards JP, Sweetland E, Bastin JM, Cowley D, Chinthammitr Y, Robson KJ, Townsend AR", "evidence": [ { "database": "Reactome", "id": "R-HSA-425410", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425410" } ], "reference": [ { "type": "PubMed", "id": "15692071", "url": "https://glygen.org/publication/PubMed/15692071" } ] }, { "title": "Identification and characterization of a novel mammalian Mg2+ transporter with channel-like properties.", "journal": "BMC genomics", "date": "2005", "authors": "Goytain A, Quamme GA", "evidence": [ { "database": "Reactome", "id": "R-HSA-425410", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425410" } ], "reference": [ { "type": "PubMed", "id": "15804357", "url": "https://glygen.org/publication/PubMed/15804357" } ] }, { "title": "The mechanism of copper uptake mediated by human CTR1: a mutational analysis.", "journal": "The Journal of biological chemistry", "date": "2005-11-04", "authors": "Eisses John F, Kaplan Jack H", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "reference": [ { "type": "PubMed", "id": "16135512", "url": "https://glygen.org/publication/PubMed/16135512" } ] }, { "title": "Projection structure of the human copper transporter CTR1 at 6-A resolution reveals a compact trimer with a novel channel-like architecture.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2006", "authors": "Aller SG, Unger VM", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "reference": [ { "type": "PubMed", "id": "16501047", "url": "https://glygen.org/publication/PubMed/16501047" } ] }, { "title": "SLC41A2 encodes a plasma-membrane Mg2+ transporter.", "journal": "The Biochemical journal", "date": "2007", "authors": "Sahni J, Nelson B, Scharenberg AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-425410", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425410" } ], "reference": [ { "type": "PubMed", "id": "16984228", "url": "https://glygen.org/publication/PubMed/16984228" } ] }, { "title": "A structural perspective on copper uptake in eukaryotes.", "journal": "Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine", "date": "2007", "authors": "De Feo CJ, Aller SG, Unger VM", "evidence": [ { "database": "Reactome", "id": "R-HSA-425410", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425410" } ], "reference": [ { "type": "PubMed", "id": "17211682", "url": "https://glygen.org/publication/PubMed/17211682" } ] }, { "title": "Colocalization of ferroportin-1 with hephaestin on the basolateral membrane of human intestinal absorptive cells.", "journal": "Journal of cellular biochemistry", "date": "2007", "authors": "Han O, Kim EY", "evidence": [ { "database": "Reactome", "id": "R-HSA-425410", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425410" } ], "reference": [ { "type": "PubMed", "id": "17486601", "url": "https://glygen.org/publication/PubMed/17486601" } ] }, { "title": "O-linked glycosylation at threonine 27 protects the copper transporter hCTR1 from proteolytic cleavage in mammalian cells.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Maryon EB, Molloy SA, Kaplan JH", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431#ptm_processing" }, { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "Automatic Literature Mining", "id": "17525160", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/17525160" } ], "reference": [ { "type": "PubMed", "id": "17525160", "url": "https://glygen.org/publication/PubMed/17525160" } ] }, { "title": "Ceruloplasmin in neurodegenerative diseases.", "journal": "Biochemical Society transactions", "date": "2008", "authors": "Texel SJ, Xu X, Harris ZL", "evidence": [ { "database": "Reactome", "id": "R-HSA-425410", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425410" } ], "reference": [ { "type": "PubMed", "id": "19021540", "url": "https://glygen.org/publication/PubMed/19021540" } ] }, { "title": "Decreased hephaestin expression and activity leads to decreased iron efflux from differentiated Caco2 cells.", "journal": "Journal of cellular biochemistry", "date": "2009", "authors": "Chen H, Attieh ZK, Dang T, Huang G, van der Hee RM, Vulpe C", "evidence": [ { "database": "Reactome", "id": "R-HSA-425410", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425410" } ], "reference": [ { "type": "PubMed", "id": "19452451", "url": "https://glygen.org/publication/PubMed/19452451" } ] }, { "title": "Human copper transporter 1 lacking O-linked glycosylation is proteolytically cleaved in a Rab9-positive endosomal compartment.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Maryon EB, Zhang J, Jellison JW, Kaplan JH", "evidence": [ { "database": "Automatic Literature Mining", "id": "19684018", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/19684018" } ], "reference": [ { "type": "PubMed", "id": "19684018", "url": "https://glygen.org/publication/PubMed/19684018" } ] }, { "title": "Copper-dependent recycling of hCTR1, the human high affinity copper transporter.", "journal": "The Journal of biological chemistry", "date": "2009-10-23", "authors": "Molloy Shannon A, Kaplan Jack H", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "reference": [ { "type": "PubMed", "id": "19740744", "url": "https://glygen.org/publication/PubMed/19740744" } ] }, { "title": "The role of the N-terminus of mammalian copper transporter 1 in the cellular accumulation of cisplatin.", "journal": "Biochemical pharmacology", "date": "2010-08-15", "authors": "Larson Christopher A, Adams Preston L, Jandial Danielle D, Blair Brian G, Safaei Roohangiz, Howell Stephen B", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "reference": [ { "type": "PubMed", "id": "20451502", "url": "https://glygen.org/publication/PubMed/20451502" } ] }, { "title": "Ctr1 transports silver into mammalian cells.", "journal": "Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS)", "date": "2010-07", "authors": "Bertinato Jesse, Cheung Lawrence, Hoque Rezaul, Plouffe Louise J", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "reference": [ { "type": "PubMed", "id": "20569931", "url": "https://glygen.org/publication/PubMed/20569931" } ] }, { "title": "Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.", "journal": "American journal of human genetics", "date": "2012", "authors": "Quadri M, Federico A, Zhao T, Breedveld GJ, Battisti C, Delnooz C, Severijnen LA, Di Toro Mammarella L, Mignarri A, Monti L, Sanna A, Lu P, Punzo F, Cossu G, Willemsen R, Rasi F, Oostra BA, van de Warrenburg BP, Bonifati V", "evidence": [ { "database": "Reactome", "id": "R-HSA-425410", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425410" } ], "reference": [ { "type": "PubMed", "id": "22341971", "url": "https://glygen.org/publication/PubMed/22341971" } ] }, { "title": "Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.", "journal": "American journal of human genetics", "date": "2012", "authors": "Tuschl K, Clayton PT, Gospe SM Jr, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, Del Rosario ML, Dyack S, Price V, Rideout A, Gordon K, Wevers RA, Chong WK, Mills PB", "evidence": [ { "database": "Reactome", "id": "R-HSA-425410", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425410" } ], "reference": [ { "type": "PubMed", "id": "22341972", "url": "https://glygen.org/publication/PubMed/22341972" } ] }, { "title": "Structural insights into the transmembrane domains of human copper transporter 1.", "journal": "J. Pept. Sci.", "date": "2012", "authors": "Yang Lei, Huang Zhaowei, Li Fei", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "reference": [ { "type": "PubMed", "id": "22615137", "url": "https://glygen.org/publication/PubMed/22615137" } ] }, { "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": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "iPTMnet", "id": "O15431", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15431" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Rate and regulation of copper transport by human copper transporter 1 (hCTR1).", "journal": "The Journal of biological chemistry", "date": "2013-06-21", "authors": "Maryon Edward B, Molloy Shannon A, Ivy Kristin, Yu Huijun, Kaplan Jack H", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "reference": [ { "type": "PubMed", "id": "23658018", "url": "https://glygen.org/publication/PubMed/23658018" } ] }, { "title": "Ctr2 regulates biogenesis of a cleaved form of mammalian Ctr1 metal transporter lacking the copper- and cisplatin-binding ecto-domain.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2013", "authors": "Ohrvik H, Nose Y, Wood LK, Kim BE, Gleber SC, Ralle M, Thiele DJ", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "reference": [ { "type": "PubMed", "id": "24167251", "url": "https://glygen.org/publication/PubMed/24167251" } ] }, { "title": "Probing the structural flexibility of the human copper metallochaperone Atox1 dimer and its interaction with the CTR1 c-terminal domain.", "journal": "J. Phys. Chem. B", "date": "2014", "authors": "Levy Ariel R, Yarmiayev Valeria, Moskovitz Yoni, Ruthstein Sharon", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "reference": [ { "type": "PubMed", "id": "24837030", "url": "https://glygen.org/publication/PubMed/24837030" } ] }, { "title": "SLC30A10 is a cell surface-localized manganese efflux transporter, and parkinsonism-causing mutations block its intracellular trafficking and efflux activity.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2014", "authors": "Leyva-Illades D, Chen P, Zogzas CE, Hutchens S, Mercado JM, Swaim CD, Morrisett RA, Bowman AB, Aschner M, Mukhopadhyay S", "evidence": [ { "database": "Reactome", "id": "R-HSA-425410", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425410" } ], "reference": [ { "type": "PubMed", "id": "25319704", "url": "https://glygen.org/publication/PubMed/25319704" } ] }, { "title": "The copper transporter 1 (CTR1) is required to maintain the stability of copper transporter 2 (CTR2).", "journal": "Metallomics", "date": "2015", "authors": "Tsai CY, Liebig JK, Tsigelny IF, Howell SB", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "reference": [ { "type": "PubMed", "id": "26205368", "url": "https://glygen.org/publication/PubMed/26205368" } ] }, { "title": "The C-Terminus of Human Copper Importer Ctr1 Acts as a Binding Site and Transfers Copper to Atox1.", "journal": "Biophysical journal", "date": "2016-01-05", "authors": "Kahra Dana, Kovermann Michael, Wittung-Stafshede Pernilla", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "reference": [ { "type": "PubMed", "id": "26745413", "url": "https://glygen.org/publication/PubMed/26745413" } ] }, { "title": "Dynamic internalization and recycling of a metal ion transporter: Cu homeostasis and CTR1, the human Cu(+) uptake system.", "journal": "J. Cell Sci.", "date": "2016", "authors": "Clifford Rebecca J, Maryon Edward B, Kaplan Jack H", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "reference": [ { "type": "PubMed", "id": "26945057", "url": "https://glygen.org/publication/PubMed/26945057" } ] }, { "title": "Cathepsin Protease Controls Copper and Cisplatin Accumulation via Cleavage of the Ctr1 Metal-binding Ectodomain.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Ohrvik H, Logeman B, Turk B, Reinheckel T, Thiele DJ", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "reference": [ { "type": "PubMed", "id": "27143361", "url": "https://glygen.org/publication/PubMed/27143361" } ] }, { "title": "The N-terminal 14-mer model peptide of human Ctr1 can collect Cu(ii) from albumin. Implications for copper uptake by Ctr1.", "journal": "Metallomics : integrated biometal science", "date": "2018-12-12", "authors": "Stefaniak Ewelina, P\u0142onka Dawid, Drew Simon C, Bossak-Ahmad Karolina, Haas Kathryn L, Pushie M Jake, Faller Peter, Wezynfeld Nina E, Bal Wojciech", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "reference": [ { "type": "PubMed", "id": "30489586", "url": "https://glygen.org/publication/PubMed/30489586" } ] }, { "title": "Copper-zinc superoxide dismutase (Sod1) activation terminates interaction between its copper chaperone (Ccs) and the cytosolic metal-binding domain of the copper importer Ctr1.", "journal": "BioMetals", "date": "2019", "authors": "Skopp Am\u00e9lie, Boyd Stefanie D, Ullrich Morgan S, Liu Li, Winkler Duane D", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "reference": [ { "type": "PubMed", "id": "31292775", "url": "https://glygen.org/publication/PubMed/31292775" } ] }, { "title": "How trimerization of CTR1 N-terminal model peptides tunes Cu-binding and redox-chemistry.", "journal": "Chem. Commun. (Camb.)", "date": "2020", "authors": "Galler Thibaut, Lebrun Vincent, Raibaut Laurent, Faller Peter, Wezynfeld Nina E", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "reference": [ { "type": "PubMed", "id": "32914794", "url": "https://glygen.org/publication/PubMed/32914794" } ] }, { "title": "Promotion of cadmium uptake and cadmium-induced toxicity by the copper transporter CTR1 in HepG2 and ZFL cells.", "journal": "Toxicology reports", "date": "2020", "authors": "Kwok Man Long, Li Zhen Ping, Law Tin Yu Samuel, Chan King Ming", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "reference": [ { "type": "PubMed", "id": "33294387", "url": "https://glygen.org/publication/PubMed/33294387" } ] }, { "title": "Cysteine oxidation of copper transporter CTR1 drives VEGFR2 signalling and angiogenesis.", "journal": "Nature cell biology", "date": "2022", "authors": "Das A, Ash D, Fouda AY, Sudhahar V, Kim YM, Hou Y, Hudson FZ, Stansfield BK, Caldwell RB, McMenamin M, Littlejohn R, Su H, Regan MR, Merrill BJ, Poole LB, Kaplan JH, Fukai T, Ushio-Fukai M", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "reference": [ { "type": "PubMed", "id": "35027734", "url": "https://glygen.org/publication/PubMed/35027734" } ] }, { "title": "Multinuclear Metal-Binding Ability of the N-Terminal Region of Human Copper Transporter Ctr1: Dependence Upon pH and Metal Oxidation State.", "journal": "Front. Mol. Biosci.", "date": "2022", "authors": "Nardella Maria Incoronata, Fortino Mariagrazia, Barbanente Alessandra, Natile Giovanni, Pietropaolo Adriana, Arnesano Fabio", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "reference": [ { "type": "PubMed", "id": "35601835", "url": "https://glygen.org/publication/PubMed/35601835" } ] }, { "title": "Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter.", "journal": "Human molecular genetics", "date": "2022-12-16", "authors": "Batzios Spyros, Tal Galit, DiStasio Andrew T, Peng Yanyan, Charalambous Christiana, Nicolaides Paola, Kamsteeg Erik-Jan, Korman Stanley H, Mandel Hanna, Steinbach Peter J, Yi Ling, Fair Summer R, Hester Mark E, Drousiotou Anthi, Kaler Stephen G", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "reference": [ { "type": "PubMed", "id": "35913762", "url": "https://glygen.org/publication/PubMed/35913762" } ] }, { "title": "High expression of cuproptosis-related SLC31A1 gene in relation to unfavorable outcome and deregulated immune cell infiltration in breast cancer: an analysis based on public databases.", "journal": "BMC bioinformatics", "date": "2022", "authors": "Li L, Li L, Sun Q", "evidence": [ { "database": "RefSeq", "id": "NP_001850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001850" } ], "reference": [ { "type": "PubMed", "id": "35996075", "url": "https://glygen.org/publication/PubMed/35996075" } ] }, { "title": "Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1.", "journal": "Clinical genetics", "date": "2023-05", "authors": "Dame Christof, Horn Denise, Schomburg Lutz, Gr\u00fcnhagen Johannes, Chillon Thilo Samson, Tietze Anna, Vogt Annika, B\u00fchrer Christoph", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "reference": [ { "type": "PubMed", "id": "36562171", "url": "https://glygen.org/publication/PubMed/36562171" } ] }, { "title": "Cuproptosis-related gene SLC31A1 expression correlates with the prognosis and tumor immune microenvironment in glioma.", "journal": "Functional & integrative genomics", "date": "2023-08-23", "authors": "Wang Jun, Li Shenglun, Guo Yuduo, Zhao Chao, Chen Yujia, Ning Weihai, Yang Jingjing, Zhang Hongwei", "evidence": [ { "database": "RefSeq", "id": "NP_001850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001850" } ], "reference": [ { "type": "PubMed", "id": "37610668", "url": "https://glygen.org/publication/PubMed/37610668" } ] }, { "title": "Cuproptosis-related gene SLC31A1: prognosis values and potential biological functions in cancer.", "journal": "Scientific reports", "date": "2023-10-18", "authors": "Qi Yue, Yao Qingqing, Li Xuanyan, Li Xinyu, Zhang Wenwen, Qu Pengpeng", "evidence": [ { "database": "RefSeq", "id": "NP_001850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001850" } ], "reference": [ { "type": "PubMed", "id": "37853210", "url": "https://glygen.org/publication/PubMed/37853210" } ] }, { "title": "Identification of cuproptosis-related gene SLC31A1 and upstream LncRNA-miRNA regulatory axis in breast cancer.", "journal": "Scientific reports", "date": "2023-10-26", "authors": "Wu Jia-Hao, Cheng Tian-Cheng, Zhu Bei, Gao Hai-Yan, Zheng Lin, Chen Wei-Xian", "evidence": [ { "database": "RefSeq", "id": "NP_001850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001850" } ], "reference": [ { "type": "PubMed", "id": "37884650", "url": "https://glygen.org/publication/PubMed/37884650" } ] }, { "title": "hCTR1: a human gene for copper uptake identified by complementation in yeast.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1997", "authors": "Zhou B, Gitschier J", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "Reactome", "id": "R-HSA-425410", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425410" } ], "reference": [ { "type": "PubMed", "id": "9207117", "url": "https://glygen.org/publication/PubMed/9207117" } ] } ], "pathway": [ { "id": "hsa:1317", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1317", "resource": "KEGG Pathway" }, { "id": "R-HSA-425410", "name": "Metal ion SLC transporters", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425410", "resource": "Reactome", "description": "Metal ion SLC transporters" } ], "orthologs": [ { "uniprot_canonical_ac": "M9NE97-1", "protein_name": "Copper transport protein", "gene_name": "Ctr1A", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MDHAHHSAPGVDHSMHHDHVGMHHDHSGIPAATASPMDAASMFDLIPDTSDLQASHAGHAAHGAHNHGGGSGTGMEHMMPMAFHFGYNETILFSWWHIETVAGLIGSMIAIFLLALMYEGLKYYREYLFWKTYNLLEYRPVTGPQRNPEAPRIPSPAAAAPSPVQYVGEVVHKQPPSMLSINHLLQTLLHVLQVTLSFLLMLIFMTYNVWLCLMVVLGAAVGYFLFCWKKSVIVDVTEHCH", "length": 241 }, "evidence": [ { "id": "O15431", "url": "https://omabrowser.org/oma/group/O15431/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "Q8K211-1", "protein_name": "High affinity copper uptake protein 1", "gene_name": "Slc31a1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MNHMGMNHMEMHHHMGMNHTDDNITMPPHHHPTTSASHSHGGGDSMMMMPMTFYFDFKNVNLLFSGLVINTPGEMAGAFVAVFLLAMFYEGLKIAREGLLRKSQVSIRYNSMPVPGPNGTILMETHKTVGQQMLSFPHLLQTVLHIIQVVISYFLMLIFMTYNGYLCIAVAAGAGTGYFLFSWKKAVVVDITEHCH", "length": 196 }, "evidence": [ { "id": "45918308", "url": "http://www.informatics.jax.org/homology/45918308", "database": "MGI" }, { "id": "O15431", "url": "https://omabrowser.org/oma/group/O15431/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9JK41-1", "protein_name": "High affinity copper uptake protein 1", "gene_name": "Slc31a1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MRMNHMEMHHMGMNHTDDNITMPPHQHPTTSASHSHEMMMPMTFYFGFKNVDLLFSSLVINTPGEMAGAFVAVFLLAMFYEGLKIAREGLLRKSQVSIRYNSMPVPGPNGTILMETHKTVGQQMLSFPHLLQTVLHIIQVVISYFLMLIFMTYNGYLCIAVAAGAGTGYFLFSWKKAVVVDITEHCH", "length": 187 }, "evidence": [ { "id": "45918308", "url": "http://www.informatics.jax.org/homology/45918308", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "xenobiotic transmembrane transporter activity", "id": "GO:0042910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042910", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "pmid": "" }, { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "pmid": "" }, { "name": "copper ion transmembrane transporter activity", "id": "GO:0005375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005375", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "pmid": "" }, { "name": "silver ion transmembrane transporter activity", "id": "GO:0015080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015080", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 10, "go_terms": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "pmid": "" }, { "name": "intracellular copper ion homeostasis", "id": "GO:0006878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006878", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "pmid": "" }, { "name": "protein complex oligomerization", "id": "GO:0051259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051259", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "pmid": "" }, { "name": "copper ion transport", "id": "GO:0006825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006825", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "pmid": "" }, { "name": "copper ion import", "id": "GO:0015677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015677", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "pmid": "" }, { "name": "plasma membrane copper ion transport", "id": "GO:0015679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015679", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "pmid": "" }, { "name": "vascular endothelial growth factor receptor-2 signaling pathway", "id": "GO:0036324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036324", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "pmid": "" }, { "name": "establishment of localization in cell", "id": "GO:0051649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051649", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "pmid": "" }, { "name": "xenobiotic transport", "id": "GO:0042908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042908", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "pmid": "" }, { "name": "silver ion transmembrane transport", "id": "GO:1902601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902601", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "pmid": "" }, { "name": "intercalated disc", "id": "GO:0014704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014704", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 112, "end_pos": 114, "annotation": "n_glycosylation_sequon" }, { "start_pos": 15, "end_pos": 17, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "O-Glycosylation at Thr-27 protects from proteolytic cleavage in the N-terminal extracellular domain.", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "PubMed", "id": "17525160", "url": "https://glygen.org/publication/PubMed/17525160" } ] }, { "annotation": "Proteolytic cleavage, leading to a truncated form, is facilitated by SLC31A2 (PubMed:24167251) and initiated preferentially by CTSL and to a minor extend by CTSB in endolysosomal compartments (PubMed:27143361, PubMed:24167251). In vitro, is cleaved by CTSL/cathepsin L between residues 8 and 9 from the amino terminus (PubMed:27143361). A post-CTSL/cathepsin L processing occurs to yield to the fully truncated form (PubMed:27143361).", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "PubMed", "id": "24167251", "url": "https://glygen.org/publication/PubMed/24167251" }, { "database": "PubMed", "id": "27143361", "url": "https://glygen.org/publication/PubMed/27143361" } ] }, { "annotation": "Sulfenylated at Cys-189 after stimulation with VEGFA, which induces SLC31A1-KDR disulfide bond formation and their co-internalization to early endosomes, driving to a sustained VEGFR2 signaling.", "evidence": [ { "database": "UniProtKB", "id": "O15431", "url": "https://www.uniprot.org/uniprot/O15431" }, { "database": "PubMed", "id": "35027734", "url": "https://glygen.org/publication/PubMed/35027734" } ] } ], "interactions": [], "reactions": [ { "id": "75207", "name": "", "equation": "Ag(+)(out) = Ag(+)(in)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "75207", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/75207" } ] }, { "id": "75211", "name": "", "equation": "Cu(+)(out) = Cu(+)(in)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "75211", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/75211" } ] } ], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 15 ], "o_linked_sites": [ 27 ], "snv_sites": [ 15, 17, 27, 66, 106 ], "glycation_sites": [], "phosphorylation_sites": [ 114 ], "sequon_annotation_sites": [ { "start_pos": 112, "end_pos": 114 }, { "start_pos": 15, "end_pos": 17 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 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": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 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_with_glycan", "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_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": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 44 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }