{ "uniprot_canonical_ac": "O75355-1", "uniprot_ac": "O75355", "uniprot_id": "ENTP3_HUMAN", "mass": { "chemical_mass": 59105.0, "monoisotopic_mass": 59105.0 }, "refseq": { "ac": "NP_001239", "name": "ectonucleoside triphosphate diphosphohydrolase 3 isoform 1", "summary": "This gene encodes a plasma membrane-bound divalent cation-dependent E-type nucleotidase. The encoded protein is involved in the regulation of extracellular levels of ATP by hydrolysis of it and other nucleotides. Multiple transcript variants have been described. [provided by RefSeq, May 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239" }, "gene_names": [ { "name": "ENTPD3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75355", "id": "O75355" }, { "name": "CD39L3; HB6; NTPDase-3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239", "id": "NP_001239" }, { "name": "CD39L3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75355", "id": "O75355" }, { "name": "ENTPD3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239", "id": "NP_001239" } ], "protein_names": [ { "name": "Ectonucleoside triphosphate diphosphohydrolase 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75355" }, { "name": "3.6.1.5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75355" }, { "name": "CD39 antigen-like 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75355" }, { "name": "Ecto-ATP diphosphohydrolase 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75355" }, { "name": "Ecto-ATPDase 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75355" }, { "name": "Ecto-ATPase 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75355" }, { "name": "Ecto-apyrase 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75355" }, { "name": "HB6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75355" }, { "name": "NTPDase 3; ecto-ATPase 3; ecto-ATPDase 3; ecto-apyrase 3; CD39 antigen-like 3; ecto-ATP diphosphohydrolase 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239", "id": "NP_001239" }, { "name": "NTPDase 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75355" }, { "name": "ectonucleoside triphosphate diphosphohydrolase 3 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239", "id": "NP_001239" } ], "function": [ { "annotation": "Despite the increased level of NTPDase1 and NTPDase3 mRNA expression in chondrogenically induced MSCs, their activity toward ATP remains quite low.", "evidence": [ { "database": "RefSeq", "id": "NP_001239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239" }, { "database": "PubMed", "id": "26018728", "url": "https://glygen.org/publication/PubMed/26018728" } ] }, { "annotation": "ENTPD3 Marks Mature Stem Cell-Derived beta-Cells Formed by Self-Aggregation In Vitro.", "evidence": [ { "database": "RefSeq", "id": "NP_001239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239" }, { "database": "PubMed", "id": "34380694", "url": "https://glygen.org/publication/PubMed/34380694" } ] }, { "annotation": "Has a threefold preference for the hydrolysis of ATP over ADP.", "evidence": [ { "database": "UniProtKB", "id": "O75355", "url": "https://www.uniprot.org/uniprot/O75355#function" }, { "database": "PubMed", "id": "10231536", "url": "https://glygen.org/publication/PubMed/10231536" }, { "database": "PubMed", "id": "11300774", "url": "https://glygen.org/publication/PubMed/11300774" } ] }, { "annotation": "NTPDase2 and -3 are ecto-enzymes expressed in the enteric nervous system. Both enzymes confer protection against gut inflammation in experimental colitis and exhibit alterations in Crohn's disease. These observations suggest that purinergic signalling modulated by E-NTPDases governs neuro-immune interactions that are relevant in Crohn's disease.", "evidence": [ { "database": "RefSeq", "id": "NP_001239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239" }, { "database": "PubMed", "id": "28472257", "url": "https://glygen.org/publication/PubMed/28472257" } ] }, { "annotation": "NTPDase3 is the major ectonucleotidase in pancreatic beta-cells in multiple species and modulates insulin secretion by controlling activation of purinergic receptors.", "evidence": [ { "database": "RefSeq", "id": "NP_001239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239" }, { "database": "PubMed", "id": "24085034", "url": "https://glygen.org/publication/PubMed/24085034" } ] }, { "annotation": "Silencing NTPDase3 activity rehabilitates the osteogenic commitment of post-menopausal stem cell bone progenitors. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239" }, { "database": "PubMed", "id": "37076930", "url": "https://glygen.org/publication/PubMed/37076930" } ] }, { "annotation": "This gene encodes a plasma membrane-bound divalent cation-dependent E-type nucleotidase. The encoded protein is involved in the regulation of extracellular levels of ATP by hydrolysis of it and other nucleotides. Multiple transcript variants have been described. [provided by RefSeq, May 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1187434308", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1187434308" }, { "id": "rs1187434308", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1187434308" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 193, "end_pos": 193, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NYL->NYS).", "chr_id": "3", "chr_pos": "40414821", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L193", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1241813271", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1241813271" }, { "id": "rs1241813271", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1241813271#frequency_tab" }, { "id": "rs1241813271", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1241813271" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 240, "end_pos": 240, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->NTG).", "chr_id": "3", "chr_pos": "40415960", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S240", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75355", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75355" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 280, "end_pos": 280, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NSP->NST).", "chr_id": "3", "chr_pos": "40422856", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P280", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1293335757", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1293335757" }, { "id": "rs1293335757", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1293335757" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 293, "end_pos": 293, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DYS->NYS).", "chr_id": "3", "chr_pos": "40422895", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D293", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767421196", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767421196" }, { "id": "rs767421196", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767421196#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 352, "end_pos": 352, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TCS->NCS).", "chr_id": "3", "chr_pos": "40423073", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T352", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1559519331", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1559519331" }, { "id": "rs1559519331", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1559519331" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 383, "end_pos": 383, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NLA).", "chr_id": "3", "chr_pos": "40423333", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S383", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1296839087", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1296839087" }, { "id": "rs1296839087", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1296839087#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 39, "end_pos": 39, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SIT->NIT).", "chr_id": "3", "chr_pos": "40392098", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S39", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768717050", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768717050" }, { "id": "rs768717050", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768717050" }, { "id": "rs768717050", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768717050" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 402, "end_pos": 402, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NWS->YWS).", "chr_id": "3", "chr_pos": "40423390", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N402", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752532416", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752532416" }, { "id": "rs752532416", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752532416" }, { "id": "rs752532416", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752532416#frequency_tab" }, { "id": "rs752532416", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752532416" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 428, "end_pos": 428, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NYI->NYT).", "chr_id": "3", "chr_pos": "40423893", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I428", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1559520855", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1559520855" }, { "id": "rs1559520855", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1559520855" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 454, "end_pos": 454, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->SSS).", "chr_id": "3", "chr_pos": "40427279", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N454", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1230318259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1230318259" }, { "id": "rs1230318259", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1230318259#frequency_tab" }, { "id": "rs1230318259", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1230318259" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 456, "end_pos": 456, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->NSG).", "chr_id": "3", "chr_pos": "40427284", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S456", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775137000", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775137000" }, { "id": "rs775137000", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775137000" }, { "id": "rs775137000", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775137000" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 471, "end_pos": 471, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQI->NQT).", "chr_id": "3", "chr_pos": "40427330", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I471", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs147399746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147399746" }, { "id": "rs147399746", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs147399746" }, { "id": "rs147399746", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147399746" }, { "id": "rs147399746", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147399746#frequency_tab" }, { "id": "rs147399746", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147399746" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 81, "end_pos": 81, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->SNT).", "chr_id": "3", "chr_pos": "40400967", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "N81", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75355", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75355" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 83, "end_pos": 83, "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 (NNT->NNI).", "chr_id": "3", "chr_pos": "40400973", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T83", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs753848660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753848660" }, { "id": "rs753848660", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753848660" }, { "id": "rs753848660", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753848660#frequency_tab" }, { "id": "rs753848660", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753848660" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 87, "end_pos": 87, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75355", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75355" } ], "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": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75355", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75355" } ], "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": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75355", "url": 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"" }, { "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 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"evidence": [ { "database": "Reactome", "id": "R-HSA-8850843", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8850843" } ], "reference": [ { "type": "PubMed", "id": "10866813", "url": "https://glygen.org/publication/PubMed/10866813" } ] }, { "title": "Expression and characterization of soluble and membrane-bound human nucleoside triphosphate diphosphohydrolase 6 (CD39L2).", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Hicks-Berger CA, Chadwick BP, Frischauf AM, Kirley TL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8850843", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8850843" } ], "reference": [ { "type": "PubMed", "id": "10948193", "url": "https://glygen.org/publication/PubMed/10948193" } ] }, { "title": "CD39L2, a gene encoding a human nucleoside diphosphatase, predominantly expressed in the heart.", "journal": "Biochemistry", "date": "2000", "authors": "Yeung G, Mulero JJ, McGowan DW, Bajwa SS, Ford JE", "evidence": [ { 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"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8850843" } ], "reference": [ { "type": "PubMed", "id": "11927941", "url": "https://glygen.org/publication/PubMed/11927941" } ] }, { "title": "Differential catalytic properties and vascular topography of murine nucleoside triphosphate diphosphohydrolase 1 (NTPDase1) and NTPDase2 have implications for thromboregulation.", "journal": "Blood", "date": "2002", "authors": "Sevigny J, Sundberg C, Braun N, Guckelberger O, Csizmadia E, Qawi I, Imai M, Zimmermann H, Robson SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-8850843", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8850843" } ], "reference": [ { "type": "PubMed", "id": "11929769", "url": "https://glygen.org/publication/PubMed/11929769" } ] }, { "title": "Determination of native oligomeric state and substrate specificity of rat NTPDase1 and NTPDase2 after heterologous expression in Xenopus oocytes.", "journal": "European journal of biochemistry", "date": "2003", "authors": "Failer BU, Aschrafi A, Schmalzing G, Zimmermann H", "evidence": [ { "database": "Reactome", "id": "R-HSA-8850843", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8850843" } ], "reference": [ { "type": "PubMed", "id": "12694193", "url": "https://glygen.org/publication/PubMed/12694193" } ] }, { "title": "Asparagine 81, an invariant glycosylation site near apyrase conserved region 1, is essential for full enzymatic activity of ecto-nucleoside triphosphate diphosphohydrolase 3.", "journal": "Archives of biochemistry and biophysics", "date": "2003", "authors": "Murphy DM, Kirley TL", "evidence": [ { "database": "Automatic Literature Mining", "id": "12706347", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/12706347" } ], "reference": [ { "type": "PubMed", "id": "12706347", "url": "https://glygen.org/publication/PubMed/12706347" } ] }, { "title": "Requirement of Cys399 for processing of the human ecto-ATPase (NTPDase2) and its implications for determination of the activities of splice variants of the enzyme.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Mateo J, Kreda S, Henry CE, Harden TK, Boyer JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8850843", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8850843" } ], "reference": [ { "type": "PubMed", "id": "12888562", "url": "https://glygen.org/publication/PubMed/12888562" } ] }, { "title": "Bacterial expression, characterization, and disulfide bond determination of soluble human NTPDase6 (CD39L2) nucleotidase: implications for structure and function.", "journal": "Biochemistry", "date": "2003", "authors": "Ivanenkov VV, Murphy-Piedmonte DM, Kirley TL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8850843", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8850843" } ], "reference": [ { "type": "PubMed", "id": "14529283", "url": "https://glygen.org/publication/PubMed/14529283" } ] }, { "title": "Heterologous cell-cell interactions: thromboregulation, cerebroprotection and cardioprotection by CD39 (NTPDase-1).", "journal": "Journal of thrombosis and haemostasis : JTH", "date": "2003", "authors": "Marcus AJ, Broekman MJ, Drosopoulos JH, Islam N, Pinsky DJ, Sesti C, Levi R", "evidence": [ { "database": "Reactome", "id": "R-HSA-8850843", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8850843" } ], "reference": [ { "type": "PubMed", "id": "14675084", "url": "https://glygen.org/publication/PubMed/14675084" } ] }, { "title": "Cloning and characterization of mouse nucleoside triphosphate diphosphohydrolase-8.", "journal": "Biochemistry", "date": "2004", "authors": "Bigonnesse F, Levesque SA, Kukulski F, Lecka J, Robson SC, Fernandes MJ, Sevigny J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8850843", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8850843" } ], "reference": [ { "type": "PubMed", "id": "15122917", "url": "https://glygen.org/publication/PubMed/15122917" } ] }, { "title": "Cloning and characterization of mouse nucleoside triphosphate diphosphohydrolase-3.", "journal": "Biochemical pharmacology", "date": "2004", "authors": "Lavoie EG, Kukulski F, Levesque SA, Lecka J, Sevigny J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8850843", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8850843" } ], "reference": [ { "type": "PubMed", "id": "15130768", "url": "https://glygen.org/publication/PubMed/15130768" } ] }, { "title": "Characterization of disulfide bonds in human nucleoside triphosphate diphosphohydrolase 3 (NTPDase3): implications for NTPDase structural modeling.", "journal": "Biochemistry", "date": "2005", "authors": "Ivanenkov Vasily V, Meller Jarek, Kirley Terence L", "evidence": [ { "database": "UniProtKB", "id": "O75355", "url": "https://www.uniprot.org/uniprot/O75355" } ], "reference": [ { "type": "PubMed", "id": "15966724", "url": "https://glygen.org/publication/PubMed/15966724" } ] }, { "title": "Immunolocalization of ecto-nucleoside triphosphate diphosphohydrolase 3 in rat brain: implications for modulation of multiple homeostatic systems including feeding and sleep-wake behaviors.", "journal": "Neuroscience", "date": "2006", "authors": "Belcher SM, Zsarnovszky A, Crawford PA, Hemani H, Spurling L, Kirley TL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8850843", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8850843" } ], "reference": [ { "type": "PubMed", "id": "16338080", "url": "https://glygen.org/publication/PubMed/16338080" } ] }, { "title": "Cloning, purification, and identification of the liver canalicular ecto-ATPase as NTPDase8.", "journal": "American journal of physiology. Gastrointestinal and liver physiology", "date": "2007", "authors": "Fausther M, Lecka J, Kukulski F, Levesque SA, Pelletier J, Zimmermann H, Dranoff JA, Sevigny J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8850843", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8850843" } ], "reference": [ { "type": "PubMed", "id": "17095758", "url": "https://glygen.org/publication/PubMed/17095758" } ] }, { "title": "Adenosine generation catalyzed by CD39 and CD73 expressed on regulatory T cells mediates immune suppression.", "journal": "The Journal of experimental medicine", "date": "2007", "authors": "Deaglio S, Dwyer KM, Gao W, Friedman D, Usheva A, Erat A, Chen JF, Enjyoji K, Linden J, Oukka M, Kuchroo VK, Strom TB, Robson SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-8850843", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8850843" } ], "reference": [ { "type": "PubMed", "id": "17502665", "url": "https://glygen.org/publication/PubMed/17502665" } ] }, { "title": "Conserved lysine 79 is important for activity of ecto-nucleoside triphosphate diphosphohydrolase 3 (NTPDase3).", "journal": "Purinergic signalling", "date": "2004", "authors": "Basu S, Murphy-Piedmonte DM, Kirley TL", "evidence": [ { "database": "Automatic Literature Mining", "id": "18404400", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/18404400" } ], "reference": [ { "type": "PubMed", "id": "18404400", "url": "https://glygen.org/publication/PubMed/18404400" } ] }, { "title": "Comparative hydrolysis of P2 receptor agonists by NTPDases 1, 2, 3 and 8.", "journal": "Purinergic signalling", "date": "2005", "authors": "Kukulski F, Levesque SA, Lavoie EG, Lecka J, Bigonnesse F, Knowles AF, Robson SC, Kirley TL, Sevigny J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8850843", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8850843" } ], "reference": [ { "type": "PubMed", "id": "18404504", "url": "https://glygen.org/publication/PubMed/18404504" } ] }, { "title": "Cloning and characterization of the ecto-nucleotidase NTPDase3 from rat brain: Predicted secondary structure and relation to other members of the E-NTPDase family and actin.", "journal": "Purinergic signalling", "date": "2005", "authors": "Vorhoff T, Zimmermann H, Pelletier J, Sevigny J, Braun N", "evidence": [ { "database": "Reactome", "id": "R-HSA-8850843", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8850843" } ], "reference": [ { "type": "PubMed", "id": "18404510", "url": "https://glygen.org/publication/PubMed/18404510" } ] }, { "title": "NTPDase1 (CD39) controls nucleotide-dependent vasoconstriction in mouse.", "journal": "Cardiovascular research", "date": "2010", "authors": "Kauffenstein G, Drouin A, Thorin-Trescases N, Bachelard H, Robaye B, D'Orleans-Juste P, Marceau F, Thorin E, Sevigny J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8850843", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8850843" } ], "reference": [ { "type": "PubMed", "id": "19640930", "url": "https://glygen.org/publication/PubMed/19640930" } ] }, { "title": "Identification of the ectonucleotidases expressed in mouse, rat, and human Langerhans islets: potential role of NTPDase3 in insulin secretion.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2010", "authors": "Lavoie EG, Fausther M, Kauffenstein G, Kukulski F, Kunzli BM, Friess H, Sevigny J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8850843", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8850843" } ], "reference": [ { "type": "PubMed", "id": "20682839", "url": "https://glygen.org/publication/PubMed/20682839" } ] }, { "title": "The ER UDPase ENTPD5 promotes protein N-glycosylation, the Warburg effect, and proliferation in the PTEN pathway.", "journal": "Cell", "date": "2010", "authors": "Fang M, Shen Z, Huang S, Zhao L, Chen S, Mak TW, Wang X", "evidence": [ { "database": "Reactome", "id": "R-HSA-8850843", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8850843" } ], "reference": [ { "type": "PubMed", "id": "21074248", "url": "https://glygen.org/publication/PubMed/21074248" } ] }, { "title": "Impact of ectoenzymes on p2 and p1 receptor signaling.", "journal": "Advances in pharmacology (San Diego, Calif.)", "date": "2011", "authors": "Kukulski F, Levesque SA, Sevigny J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8850843", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8850843" } ], "reference": [ { "type": "PubMed", "id": "21586362", "url": "https://glygen.org/publication/PubMed/21586362" } ] }, { "title": "ENTPD5, an endoplasmic reticulum UDPase, alleviates ER stress induced by protein overloading in AKT-activated cancer cells.", "journal": "Cold Spring Harbor symposia on quantitative biology", "date": "2011", "authors": "Shen Z, Huang S, Fang M, Wang X", "evidence": [ { "database": "Reactome", "id": "R-HSA-8850843", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8850843" } ], "reference": [ { "type": "PubMed", "id": "22169232", "url": "https://glygen.org/publication/PubMed/22169232" } ] }, { "title": "Ecto-nucleoside triphosphate diphosphohydrolase 7 controls Th17 cell responses through regulation of luminal ATP in the small intestine.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2013", "authors": "Kusu T, Kayama H, Kinoshita M, Jeon SG, Ueda Y, Goto Y, Okumura R, Saiga H, Kurakawa T, Ikeda K, Maeda Y, Nishimura J, Arima Y, Atarashi K, Honda K, Murakami M, Kunisawa J, Kiyono H, Okumura M, Yamamoto M, Takeda K", "evidence": [ { "database": "Reactome", "id": "R-HSA-8850843", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8850843" } ], "reference": [ { "type": "PubMed", "id": "23241884", "url": "https://glygen.org/publication/PubMed/23241884" } ] }, { "title": "Ectonucleotidase NTPDase3 is abundant in pancreatic beta-cells and regulates glucose-induced insulin secretion.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2013", "authors": "Syed SK, Kauffman AL, Beavers LS, Alston JT, Farb TB, Ficorilli J, Marcelo MC, Brenner MB, Bokvist K, Barrett DG, Efanov AM", "evidence": [ { "database": "RefSeq", "id": "NP_001239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239" } ], "reference": [ { "type": "PubMed", "id": "24085034", "url": "https://glygen.org/publication/PubMed/24085034" } ] }, { "title": "Chondrogenic Differentiation of Human Mesenchymal Stem Cells Results in Substantial Changes of Ecto-Nucleotides Metabolism.", "journal": "Journal of cellular biochemistry", "date": "2015", "authors": "Roszek K, Porowinska D, Bajek A, Holysz M, Czarnecka J", "evidence": [ { "database": "RefSeq", "id": "NP_001239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239" } ], "reference": [ { "type": "PubMed", "id": "26018728", "url": "https://glygen.org/publication/PubMed/26018728" } ] }, { "title": "Expression of Ecto-nucleoside Triphosphate Diphosphohydrolases-2 and -3 in the Enteric Nervous System Affects Inflammation in Experimental Colitis and Crohn's Disease.", "journal": "Journal of Crohn's & colitis", "date": "2017", "authors": "Feldbrugge L, Moss AC, Yee EU, Csizmadia E, Mitsuhashi S, Longhi MS, Sandhu B, Stephan H, Wu Y, Cheifetz AS, Muller CE, Sevigny J, Robson SC, Jiang ZG", "evidence": [ { "database": "RefSeq", "id": "NP_001239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239" } ], "reference": [ { "type": "PubMed", "id": "28472257", "url": "https://glygen.org/publication/PubMed/28472257" } ] }, { "title": "Various N-glycoforms differentially upregulate E-NTPDase activity of the NTPDase3/CD39L3 ecto-enzymatic domain.", "journal": "Purinergic signalling", "date": "2017", "authors": "Zhong AH, Gordon Jiang Z, Cummings RD, Robson SC", "evidence": [ { "database": "Automatic Literature Mining", "id": "28956227", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/28956227" } ], "reference": [ { "type": "PubMed", "id": "28956227", "url": "https://glygen.org/publication/PubMed/28956227" } ] }, { "title": "Quantitative Longitudinal Inventory of the N-Glycoproteome of Human Milk from a Single Donor Reveals the Highly Variable Repertoire and Dynamic Site-Specific Changes.", "journal": "Journal of proteome research", "date": "2020", "authors": "Zhu J, Lin YH, Dingess KA, Mank M, Stahl B, Heck AJR", "evidence": [ { "database": "GlyConnect", "id": "2936", "url": "https://glyconnect.expasy.org/browser/proteins/2936" } ], "reference": [ { "type": "PubMed", "id": "32125861", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "title": "ENTPD3 Marks Mature Stem Cell-Derived beta-Cells Formed by Self-Aggregation In Vitro.", "journal": "Diabetes", "date": "2021", "authors": "Docherty FM, Riemondy KA, Castro-Gutierrez R, Dwulet JM, Shilleh AH, Hansen MS, Williams SPM, Armitage LH, Santostefano KE, Wallet MA, Mathews CE, Triolo TM, Benninger RKP, Russ HA", "evidence": [ { "database": "RefSeq", "id": "NP_001239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239" } ], "reference": [ { "type": "PubMed", "id": "34380694", "url": "https://glygen.org/publication/PubMed/34380694" } ] }, { "title": "Silencing NTPDase3 activity rehabilitates the osteogenic commitment of post-menopausal stem cell bone progenitors.", "journal": "Stem cell research & therapy", "date": "2023-04-19", "authors": "Noronha-Matos Jos\u00e9 Bernardo, Pinto-Cardoso Rui, Bessa-Andr\u00eas Catarina, Magalh\u00e3es-Cardoso Maria Teresa, Ferreirinha F\u00e1tima, Costa Maria Adelina, Marinhas Jos\u00e9, Freitas Rolando, Lemos Rui, Vila\u00e7a Ad\u00e9lio, Oliveira Ant\u00f3nio, Pelletier Julie, S\u00e9vigny Jean, Correia-de-S\u00e1 Paulo", "evidence": [ { "database": "RefSeq", "id": "NP_001239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239" } ], "reference": [ { "type": "PubMed", "id": "37076930", "url": "https://glygen.org/publication/PubMed/37076930" } ] }, { "title": "Identification and characterization of CD39/vascular ATP diphosphohydrolase.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Kaczmarek E, Koziak K, Sevigny J, Siegel JB, Anrather J, Beaudoin AR, Bach FH, Robson SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-8850843", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8850843" } ], "reference": [ { "type": "PubMed", "id": "8955160", "url": "https://glygen.org/publication/PubMed/8955160" } ] }, { "title": "Complementary DNA cloning and sequencing of the chicken muscle ecto-ATPase. Homology with the lymphoid cell activation antigen CD39.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Kirley TL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8850843", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8850843" } ], "reference": [ { "type": "PubMed", "id": "8995405", "url": "https://glygen.org/publication/PubMed/8995405" } ] }, { "title": "An ecto-ATPase and an ecto-ATP diphosphohydrolase are expressed in rat brain.", "journal": "Neuropharmacology", "date": "1997", "authors": "Kegel B, Braun N, Heine P, Maliszewski CR, Zimmermann H", "evidence": [ { "database": "Reactome", "id": "R-HSA-8850843", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8850843" } ], "reference": [ { "type": "PubMed", "id": "9364474", "url": "https://glygen.org/publication/PubMed/9364474" } ] }, { "title": "Golgi localization and functional expression of human uridine diphosphatase.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Wang TF, Guidotti G", "evidence": [ { "database": "Reactome", "id": "R-HSA-8850843", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8850843" } ], "reference": [ { "type": "PubMed", "id": "9556635", "url": "https://glygen.org/publication/PubMed/9556635" } ] }, { "title": "Cloning, sequencing, and expression of a human brain ecto-apyrase related to both the ecto-ATPases and CD39 ecto-apyrases.", "journal": "Biochim. Biophys. Acta", "date": "1998", "authors": "Smith TM, Kirley TL", "evidence": [ { "database": "UniProtKB", "id": "O75355", "url": "https://www.uniprot.org/uniprot/O75355" }, { "database": "Reactome", "id": "R-HSA-8850843", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8850843" } ], "reference": [ { "type": "PubMed", "id": "9675246", "url": "https://glygen.org/publication/PubMed/9675246" } ] }, { "title": "The CD39-like gene family: identification of three new human members (CD39L2, CD39L3, and CD39L4), their murine homologues, and a member of the gene family from Drosophila melanogaster.", "journal": "Genomics", "date": "1998", "authors": "Chadwick BP, Frischauf AM", "evidence": [ { "database": "UniProtKB", "id": "O75355", "url": "https://www.uniprot.org/uniprot/O75355" } ], "reference": [ { "type": "PubMed", "id": "9676430", "url": "https://glygen.org/publication/PubMed/9676430" } ] } ], "pathway": [ { "id": "hsa:956", "name": "", "url": 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"UniProtKB", "id": "O75355", "url": "https://www.uniprot.org/uniprot/O75355" } ], "pmid": "" }, { "name": "UDP phosphatase activity", "id": "GO:0045134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045134", "evidence": [ { "database": "UniProtKB", "id": "O75355", "url": "https://www.uniprot.org/uniprot/O75355" } ], "pmid": "" }, { "name": "nucleoside diphosphate phosphatase activity", "id": "GO:0017110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017110", "evidence": [ { "database": "UniProtKB", "id": "O75355", "url": "https://www.uniprot.org/uniprot/O75355" } ], "pmid": "" }, { "name": "ribonucleoside triphosphate phosphatase activity", "id": "GO:0017111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017111", "evidence": [ { "database": "UniProtKB", "id": "O75355", "url": "https://www.uniprot.org/uniprot/O75355" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "nucleoside triphosphate catabolic process", "id": "GO:0009143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009143", "evidence": [ { "database": "UniProtKB", "id": "O75355", "url": "https://www.uniprot.org/uniprot/O75355" } ], "pmid": "" }, { "name": "nucleoside diphosphate catabolic process", "id": "GO:0009134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009134", "evidence": [ { "database": "UniProtKB", "id": "O75355", "url": "https://www.uniprot.org/uniprot/O75355" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 149, "end_pos": 151, "annotation": "n_glycosylation_sequon" }, { "start_pos": 238, "end_pos": 240, "annotation": "n_glycosylation_sequon" }, { "start_pos": 381, "end_pos": 383, "annotation": "n_glycosylation_sequon" }, { "start_pos": 392, "end_pos": 394, "annotation": "n_glycosylation_sequon" }, { "start_pos": 402, "end_pos": 404, "annotation": "n_glycosylation_sequon" }, { "start_pos": 454, "end_pos": 456, "annotation": "n_glycosylation_sequon" }, { "start_pos": 81, "end_pos": 83, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "36795", "name": "", "equation": "a ribonucleoside 5'-triphosphate + 2 H2O = a ribonucleoside 5'-phosphate + 2 H(+) + 2 phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5DRK1-1", "P97687-1", "Q5MY95-1", "O75355-1", "P49961-1", "Q8K0L2-1", "P55772-1", "Q8BFW6-1", "P40009-1" ], "evidence": [ { "id": "36795", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/36795" } ] }, { "id": "R-HSA-8851110", "name": "NTPDase3 hydrolyzes nucleoside triphosphates", "equation": "", "summary": "NTPDase3 (CD39L3), encoded by the ENTPD3 gene, is a plasma membrane-bound ectonucleotidase that hydrolyzes extracellular NTPs to NMPs via corresponding NDP intermediates (Smith and Kirley 1998, Lavoie et al. 2004, Kukulski et al. 2005). NTPDase3 is about 3 times more efficient in hydrolyzing ATP than ADP (Smith and Kirley 1998). NTPDase3 is expressed in some neurons (Belcher et al. 2006, Lavoie et al. 2010) where it may be involved in sleep-wake behaviour (Belcher et al. 2006). NTPDase3 is also expressed in islet cells where it may regulate insulin secretion (Lavoie et al. 2010).", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75355-1" ], "evidence": [ { "id": "R-HSA-8851110", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8851110" } ] }, { "id": "R-HSA-8851129", "name": "NTPDase3 hydrolyzes nucleoside diphosphates", "equation": "", "summary": "NTPDase3 (CD39L3), encoded by the ENTPD3 gene, is a plasma membrane-bound ectonucleotidase that hydrolyzes extracellular NDPs to corresponding NMPs (Smith and Kirley 1998, Lavoie et al. 2004, Vorhoff et al. 2005, Kukulski et al. 2005).", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75355-1" ], "evidence": [ { "id": "R-HSA-8851129", "database": "Reactome", "url": 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