{ "uniprot_canonical_ac": "O14638-1", "uniprot_ac": "O14638", "uniprot_id": "ENPP3_HUMAN", "mass": { "chemical_mass": 100124.0, "monoisotopic_mass": 100124.0 }, "refseq": { "ac": "NP_005012", "name": "ectonucleotide pyrophosphatase/phosphodiesterase family member 3", "summary": "The protein encoded by this gene belongs to a series of ectoenzymes that are involved in hydrolysis of extracellular nucleotides. These ectoenzymes possess ATPase and ATP pyrophosphatase activities and are type II transmembrane proteins. Expression of the related rat mRNA has been found in a subset of immature glial cells and in the alimentary tract. The corresponding rat protein has been detected in the pancreas, small intestine, colon, and liver. The human mRNA is expressed in glioma cells, prostate, and uterus. Expression of the human protein has been detected in uterus, basophils, and mast cells. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Oct 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005012" }, "gene_names": [ { "name": "ENPP3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14638", "id": "O14638" }, { "name": "B10; CD203c; NPP3; PD-IBETA; PDNP3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005012", "id": "NP_005012" }, { "name": "ENPP3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005012", "id": "NP_005012" }, { "name": "PDNP3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14638", "id": "O14638" } ], "protein_names": [ { "name": "Ectonucleotide pyrophosphatase/phosphodiesterase family member 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14638" }, { "name": "E-NPP 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14638" }, { "name": "NPP3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14638" }, { "name": "Nucleotide diphosphatase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14638" }, { "name": "PD-Ibeta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14638" }, { "name": "Phosphodiesterase I beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14638" }, { "name": "Phosphodiesterase I/nucleotide pyrophosphatase 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14638" }, { "name": "ectonucleotide pyrophosphatase/phosphodiesterase family member 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005012", "id": "NP_005012" }, { "name": "phosphodiesterase-I beta; gp130RB13-6; phosphodiesterase I/nucleotide pyrophosphatase 3; dJ914N13.3 (phosphodiesterase I/nucleotide pyrophosphatase 3); dJ1005H11.3 (phosphodiesterase I/nucleotide pyrophosphatase 3)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005012", "id": "NP_005012" } ], "function": [ { "annotation": "Activated steady status and distinctive FcepsilonRI-mediated responsiveness in basophils of atopic dermatitis.", "evidence": [ { "database": "RefSeq", "id": "NP_005012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005012" }, { "database": "PubMed", "id": "33674191", "url": "https://glygen.org/publication/PubMed/33674191" } ] }, { "annotation": "E-NPP3 is associated with carcinogenesis of human colon cancer and that serum E-NPP3 might be a tumor marker of colon carcinoma", "evidence": [ { "database": "RefSeq", "id": "NP_005012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005012" }, { "database": "PubMed", "id": "14533006", "url": "https://glygen.org/publication/PubMed/14533006" } ] }, { "annotation": "ENPP3 was detected at high levels in archived tumor samples in agreement with preclinical data", "evidence": [ { "database": "RefSeq", "id": "NP_005012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005012" }, { "database": "PubMed", "id": "29848572", "url": "https://glygen.org/publication/PubMed/29848572" } ] }, { "annotation": "Hydrolase that metabolizes extracellular nucleotides, including ATP, GTP, UTP and CTP (PubMed:29717535). Limits mast cell and basophil responses during inflammation and during the chronic phases of allergic responses by eliminating the extracellular ATP that functions as signaling molecule and activates basophils and mast cells and induces the release of inflammatory cytokines. Metabolizes extracellular ATP in the lumen of the small intestine, and thereby prevents ATP-induced apoptosis of intestinal plasmacytoid dendritic cells (By similarity). Has also alkaline phosphodiesterase activity (PubMed:11342463).", "evidence": [ { "database": "UniProtKB", "id": "O14638", "url": "https://www.uniprot.org/uniprot/O14638#function" }, { "database": "PubMed", "id": "29717535", "url": "https://glygen.org/publication/PubMed/29717535" }, { "database": "PubMed", "id": "11342463", "url": "https://glygen.org/publication/PubMed/11342463" }, { "database": "UniProtKB", "id": "Q6DYE8", "url": "https://www.uniprot.org/uniprot/Q6DYE8#function" } ] }, { "annotation": "Identification of CD203c as a New Basophil-Specific Flow-Marker in Ph[+] Chronic Myeloid Leukemia. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005012" }, { "database": "PubMed", "id": "36611797", "url": "https://glygen.org/publication/PubMed/36611797" } ] }, { "annotation": "Serum CD203c+ Extracellular Vesicle Serves as a Novel Diagnostic and Prognostic Biomarker for Succinylated Gelatin Induced Perioperative Hypersensitive Reaction. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005012" }, { "database": "PubMed", "id": "34650557", "url": "https://glygen.org/publication/PubMed/34650557" } ] }, { "annotation": "The protein encoded by this gene belongs to a series of ectoenzymes that are involved in hydrolysis of extracellular nucleotides. These ectoenzymes possess ATPase and ATP pyrophosphatase activities and are type II transmembrane proteins. Expression of the related rat mRNA has been found in a subset of immature glial cells and in the alimentary tract. The corresponding rat protein has been detected in the pancreas, small intestine, colon, and liver. The human mRNA is expressed in glioma cells, prostate, and uterus. Expression of the human protein has been detected in uterus, basophils, and mast cells. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Oct 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_005012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005012" } ] }, { "annotation": "Updates on the surface antigens of basophils: CD16 on basophils of patients with respiratory or insect venom allergy and the rejection of CD203c and CD63 externalization decoupling by bisindolylmaleimides.", "evidence": [ { "database": "RefSeq", "id": "NP_005012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005012" }, { "database": "PubMed", "id": "30288810", "url": "https://glygen.org/publication/PubMed/30288810" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1158055190", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1158055190" }, { "id": "rs1158055190", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1158055190#frequency_tab" }, { "id": "rs1158055190", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1158055190" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 236, "end_pos": 236, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->SFS); n-glyco-sequon-gain (NKN->NKS).", "chr_id": "6", "chr_pos": "131674226", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N236", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1317004699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1317004699" }, { "id": "rs1317004699", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1317004699#frequency_tab" }, { "id": "rs1317004699", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1317004699" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 185, "end_pos": 185, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIN->NIS).", "chr_id": "6", "chr_pos": "131658412", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N185", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O14638", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14638" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 247, "end_pos": 247, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NNP->NNS).", "chr_id": "6", "chr_pos": "131674258", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P247", "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": "rs147892792", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147892792" }, { "id": "rs147892792", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147892792#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 279, "end_pos": 279, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->SGS).", "chr_id": "6", "chr_pos": "131675153", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N279", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs371138539", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371138539" }, { "id": "rs371138539", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371138539" }, { "id": "rs371138539", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371138539" }, { "id": "rs371138539", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371138539#frequency_tab" }, { "id": "rs371138539", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371138539" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 281, "end_pos": 281, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->NGF).", "chr_id": "6", "chr_pos": "131675159", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S281", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1407666836", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1407666836" }, { "id": "rs1407666836", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1407666836" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 290, "end_pos": 290, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->SGS).", "chr_id": "6", "chr_pos": "131675186", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N290", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O14638", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14638" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 292, "end_pos": 292, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NGS->NGI).", "chr_id": "6", "chr_pos": "131676738", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S292", "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": "rs961724611", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs961724611" }, { "id": "rs961724611", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs961724611#frequency_tab" }, { "id": "rs961724611", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs961724611" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 34, "end_pos": 34, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IMS->NMS).", "chr_id": "6", "chr_pos": "131641477", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I34", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1422240794", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1422240794" }, { "id": "rs1422240794", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1422240794#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 385, "end_pos": 385, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YMT->NMT).", "chr_id": "6", "chr_pos": "131685396", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y385", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772456589", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772456589" }, { "id": "rs772456589", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772456589" }, { "id": "rs772456589", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772456589#frequency_tab" }, { "id": "rs772456589", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772456589" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 426, "end_pos": 426, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->ILS).", "chr_id": "6", "chr_pos": "131685900", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N426", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1304433594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1304433594" }, { "id": "rs1304433594", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1304433594#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 426, "end_pos": 426, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->KLS).", "chr_id": "6", "chr_pos": "131685901", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N426", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1212953217", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1212953217" }, { "id": "rs1212953217", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1212953217" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 428, "end_pos": 428, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NLR).", "chr_id": "6", "chr_pos": "131685907", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S428", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs994296569", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs994296569" }, { "id": "rs994296569", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs994296569" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 439, "end_pos": 439, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YLT->NLT).", "chr_id": "6", "chr_pos": "131693527", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y439", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O14638", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14638" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 533, "end_pos": 533, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NGT->HGT).", "chr_id": "6", "chr_pos": "131722256", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N533", "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", 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"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": "O14638", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14638" } ], "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": 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"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 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14638" } ], "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": 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"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 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O14638", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14638" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O14638", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14638" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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}, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14638", "url": "https://www.uniprot.org/uniprot/O14638" } ], "common_name": "Human" } ], "gene": [ { "name": "ENPP3", "url": "https://www.uniprot.org/uniprot/O14638", "locus": { "chromosome": "6", "start_pos": 131747418, "end_pos": 131628442, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000154269", "url": "https://www.ensembl.org/id/ENSG00000154269" } ] } } ], "crossref": [ { "id": "ENSG00000154269", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154269", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O14638", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14638", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "3.6.1.9", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=3.6.1.9&UniProtAcc=O14638", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd00091", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00091", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd16018", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd16018", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL5580", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL5580", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "ENPP3", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENPP3", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "5169", "url": "https://www.ncbi.nlm.nih.gov/gene/5169", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "3358", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3358", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O14638", "url": "https://www.ebi.ac.uk/intact/interactors/id:O14638*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001212", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001212", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001604", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001604", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002591", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002591", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017850", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017850", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020821", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020821", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036024", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036024", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR044925", "url": "https://www.ebi.ac.uk/interpro/entry/IPR044925", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR044929", "url": "https://www.ebi.ac.uk/interpro/entry/IPR044929", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:5169", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5169", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "602182", "url": "http://www.omim.org/entry/602182", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O14638", "url": "https://www.nextprot.org/entry/NX_O14638", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "PMYKEFK", "url": "https://omabrowser.org/oma/group/PMYKEFK/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1366859at2759", "url": "http://www.orthodb.org/?query=1366859at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10151", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10151", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10151:SF107", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10151:SF107", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "6C01", "url": "https://www.rcsb.org/structure/6C01", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6C02", "url": "https://www.rcsb.org/structure/6C02", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF01033", "url": "http://pfam.xfam.org/family/PF01033", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01663", "url": "http://pfam.xfam.org/family/PF01663", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O14638", "url": "https://pharos.nih.gov/targets/O14638", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O14638", "url": "http://purl.obolibrary.org/obo/PR_O14638", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-199220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-199220", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_005012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005012", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "23996", "url": "https://www.rhea-db.org/rhea/23996", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "44644", "url": "https://www.rhea-db.org/rhea/44644", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "E7ETI7", "url": "https://www.uniprot.org/uniprot/E7ETI7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7ETI7-1", "url": "https://www.uniprot.org/uniprot/E7ETI7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PDB4", "url": "https://www.uniprot.org/uniprot/E9PDB4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PDB4-1", "url": "https://www.uniprot.org/uniprot/E9PDB4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W6H5", "url": "https://www.uniprot.org/uniprot/F8W6H5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W6H5-1", "url": "https://www.uniprot.org/uniprot/F8W6H5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14638", "url": "https://www.uniprot.org/uniprot/O14638", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14638-1", "url": "https://www.uniprot.org/uniprot/O14638-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MESTLTLATEQPVKKNTLKKYKIACIVLLALLVIMSLGLGLGLGLRKLEKQGSCRKKCFDASFRGLENCRCDVACKDRGDCCWDFEDTCVESTRIWMCNKFRCGETRLEASLCSCSDDCLQRKDCCADYKSVCQGETSWLEENCDTAQQSQCPEGFDLPPVILFSMDGFRAEYLYTWDTLMPNINKLKTCGIHSKYMRAMYPTKTFPNHYTIVTGLYPESHGIIDNNMYDVNLNKNFSLSSKEQNNPAWWHGQPMWLTAMYQGLKAATYFWPGSEVAINGSFPSIYMPYNGSVPFEERISTLLKWLDLPKAERPRFYTMYFEEPDSSGHAGGPVSARVIKALQVVDHAFGMLMEGLKQRNLHNCVNIILLADHGMDQTYCNKMEYMTDYFPRINFFYMYEGPAPRIRAHNIPHDFFSFNSEEIVRNLSCRKPDQHFKPYLTPDLPKRLHYAKNVRIDKVHLFVDQQWLAVRSKSNTNCGGGNHGYNNEFRSMEAIFLAHGPSFKEKTEVEPFENIEVYNLMCDLLRIQPAPNNGTHGSLNHLLKVPFYEPSHAEEVSKFSVCGFANPLPTESLDCFCPHLQNSTQLEQVNQMLNLTQEEITATVKVNLPFGRPRVLQKNVDHCLLYHREYVSGFGKAMRMPMWSSYTVPQLGDTSPLPPTVPDCLRADVRVPPSESQKCSFYLADKNITHGFLYPPASNRTSDSQYDALITSNLVPMYEEFRKMWDYFHSVLLIKHATERNGVNVVSGPIFDYNYDGHFDAPDEITKHLANTDVPIPTHYFVVLTSCKNKSHTPENCPGWLDVLPFIIPHRPTNVESCPEGKPEALWVEERFTAHIARVRDVELLTGLDFYQDKVQPVSEILQLKTYLPTFETTI", "length": 875, "header": "sp|O14638-1|ENPP3_HUMAN Isoform 1 of Ectonucleotide pyrophosphatase/phosphodiesterase family member 3 OS=Homo sapiens OX=9606 GN=ENPP3 PE=1 SV=2 CANONICAL=O14638-1" }, "isoforms": [ { "isoform_ac": "E7ETI7-1", "url": "", "sequence": { "sequence": "MESTLTLATEQPVKKNTLKKYKIACIGLSPLGSHLTTTSVSQAQVILLPQPPE", "length": 53, "header": "tr|E7ETI7-1|ENPP3_HUMAN Computationally mapped isoform of Ectonucleotide pyrophosphatase/phosphodiesterase family member 3 OS=Homo sapiens OX=9606 GN=ENPP3 PE=1 SV=1 CANONICAL=O14638-1" }, "locus": { "chromosome": "6", "start_pos": 131638531, "end_pos": 131637385, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000427707.5", "url": "https://www.ensembl.org/id/ENST00000427707.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000415589.1", "url": "https://www.ensembl.org/id/ENSP00000415589.1" } ] } }, { "isoform_ac": "E9PDB4-1", "url": "", "sequence": { "sequence": "MESTLTLATEQPVKKNTLKKYKIACITGSLSFGISPHHNLCFPGSSDPPASAS", "length": 53, "header": "tr|E9PDB4-1|ENPP3_HUMAN Computationally mapped isoform of Ectonucleotide pyrophosphatase/phosphodiesterase family member 3 OS=Homo sapiens OX=9606 GN=ENPP3 PE=1 SV=1 CANONICAL=O14638-1" }, "locus": { "chromosome": "6", "start_pos": 131638527, "end_pos": 131637385, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000423831.5", "url": "https://www.ensembl.org/id/ENST00000423831.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000408642.1", "url": "https://www.ensembl.org/id/ENSP00000408642.1" } ] } }, { "isoform_ac": "F8W6H5-1", "url": "", "sequence": { "sequence": "MESTLTLATEQPVKKNTLKKYKIACIVLLALLVIMSLGLGLGLGLRKLEKQGSCRKKCFDASFRGLENCRCDVACKDRGDCCWDFEDTCVESTRIWMCNKFRCGETRLEASLCSCSDDCLQRKDCCADYKSVCQGETSWLEENCDTAQQSQCPEGFDLPPVILFSMDGFRAEYLYTWDTLMPNINKLKTCGIHSKYMRAMYPTKTFPNHYTIVTGLYPESHGIIDNNMYDVNLNKNFSLSSKEQNNPAWWHGQPMWLTAMYQGLKAATYFWPGSEVAINGSFPSIYMPYNGSVPFEERISTLLKWLDLPKAERPRFYTMYFEEPDSSGHAGGPVSARVIKALQVVDHAFGMLMEGLKQRNLHNCVNIILLADHGMDQTYCNKMEYMTDYFPRINFFYMYEGPAPRIRAHNIPHDFFSFNSEEIVRNLSCRKPDQHFKPYLTPDLPKRLHYAKNVRIDKVHLFVDQQWLAVRSKSNTNCGGGNHGYNNEFRSMEAIFLAHGPSFKEKTEVEPFENIEVYNLMCDLLRIQPAPNNGTHGSLNHLLKVPFYEPSHAEEVSKFSVCGFANPLPTESLDCFCPHLQNSTQLEQVNQMLNLTQEEITATVKVNLPFGRPRVLQKNVDHCLLYHREYVSGFGKAMRMPMWSSYTVPQLPAIEHQIANMML", "length": 663, "header": "tr|F8W6H5-1|ENPP3_HUMAN Computationally mapped isoform of Ectonucleotide pyrophosphatase/phosphodiesterase family member 3 OS=Homo sapiens OX=9606 GN=ENPP3 PE=1 SV=1 CANONICAL=O14638-1" }, "locus": { "chromosome": "6", "start_pos": 131737390, "end_pos": 131637385, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000358229.6", "url": "https://www.ensembl.org/id/ENST00000358229.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000350964.5", "url": "https://www.ensembl.org/id/ENSP00000350964.5" } ] } }, { "isoform_ac": "O14638-1", "url": "", "sequence": { "sequence": "MESTLTLATEQPVKKNTLKKYKIACIVLLALLVIMSLGLGLGLGLRKLEKQGSCRKKCFDASFRGLENCRCDVACKDRGDCCWDFEDTCVESTRIWMCNKFRCGETRLEASLCSCSDDCLQRKDCCADYKSVCQGETSWLEENCDTAQQSQCPEGFDLPPVILFSMDGFRAEYLYTWDTLMPNINKLKTCGIHSKYMRAMYPTKTFPNHYTIVTGLYPESHGIIDNNMYDVNLNKNFSLSSKEQNNPAWWHGQPMWLTAMYQGLKAATYFWPGSEVAINGSFPSIYMPYNGSVPFEERISTLLKWLDLPKAERPRFYTMYFEEPDSSGHAGGPVSARVIKALQVVDHAFGMLMEGLKQRNLHNCVNIILLADHGMDQTYCNKMEYMTDYFPRINFFYMYEGPAPRIRAHNIPHDFFSFNSEEIVRNLSCRKPDQHFKPYLTPDLPKRLHYAKNVRIDKVHLFVDQQWLAVRSKSNTNCGGGNHGYNNEFRSMEAIFLAHGPSFKEKTEVEPFENIEVYNLMCDLLRIQPAPNNGTHGSLNHLLKVPFYEPSHAEEVSKFSVCGFANPLPTESLDCFCPHLQNSTQLEQVNQMLNLTQEEITATVKVNLPFGRPRVLQKNVDHCLLYHREYVSGFGKAMRMPMWSSYTVPQLGDTSPLPPTVPDCLRADVRVPPSESQKCSFYLADKNITHGFLYPPASNRTSDSQYDALITSNLVPMYEEFRKMWDYFHSVLLIKHATERNGVNVVSGPIFDYNYDGHFDAPDEITKHLANTDVPIPTHYFVVLTSCKNKSHTPENCPGWLDVLPFIIPHRPTNVESCPEGKPEALWVEERFTAHIARVRDVELLTGLDFYQDKVQPVSEILQLKTYLPTFETTI", "length": 875, "header": "sp|O14638-1|ENPP3_HUMAN Isoform 1 of Ectonucleotide pyrophosphatase/phosphodiesterase family member 3 OS=Homo sapiens OX=9606 GN=ENPP3 PE=1 SV=2 CANONICAL=O14638-1" }, "locus": { "chromosome": "6", "start_pos": 131746953, "end_pos": 131637385, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000414305.5", "url": "https://www.ensembl.org/id/ENST00000414305.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000406261.1", "url": "https://www.ensembl.org/id/ENSP00000406261.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 236, "start_aa": "Asn", "end_pos": 236, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn236", "evidence": [ { "id": "O14638", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14638#ptm_processing" }, { "id": "6C02", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/6C02" }, { "id": "29717535", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29717535" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 279, "start_aa": "Asn", "end_pos": 279, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn279", "evidence": [ { "id": "O14638", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14638#ptm_processing" }, { "id": "6C02", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/6C02" }, { "id": "29717535", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29717535" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 290, "start_aa": "Asn", "end_pos": 290, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn290", "evidence": [ { "id": "O14638", "database": "UniProtKB", "url": 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Arch. Allergy Immunol.", "date": "2004", "authors": "B\u00fchring Hans-J\u00f6rg, Streble Anna, Valent Peter", "evidence": [ { "database": "UniProtKB", "id": "O14638", "url": "https://www.uniprot.org/uniprot/O14638" } ], "reference": [ { "type": "PubMed", "id": "15031605", "url": "https://glygen.org/publication/PubMed/15031605" } ] }, { "title": "Expression and localization of ecto-nucleotide pyrophosphatase/phosphodiesterase I-1 (E-NPP1/PC-1) and -3 (E-NPP3/CD203c/PD-Ibeta/B10/gp130(RB13-6)) in inflammatory and neoplastic bile duct diseases.", "journal": "Cancer Lett.", "date": "2004", "authors": "Yano Yoshihiko, Hayashi Yoshitake, Sano Kimihiko, Nagano Hidenobu, Nakaji Miyuki, Seo Yasushi, Ninomiya Toshiaki, Yoon Seitetsu, Yokozaki Hiroshi, Kasuga Masato", "evidence": [ { "database": "UniProtKB", "id": "O14638", "url": "https://www.uniprot.org/uniprot/O14638" } ], "reference": [ { "type": "PubMed", "id": "15072822", "url": "https://glygen.org/publication/PubMed/15072822" } ] }, { "title": "Activation of human mitochondrial pantothenate kinase 2 by palmitoylcarnitine.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Leonardi R, Rock CO, Jackowski S, Zhang YM", "evidence": [ { "database": "Reactome", "id": "R-HSA-199220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-199220" } ], "reference": [ { "type": "PubMed", "id": "17242360", "url": "https://glygen.org/publication/PubMed/17242360" } ] }, { "title": "A novel member of solute carrier family 25 (SLC25A42) is a transporter of coenzyme A and adenosine 3',5'-diphosphate in human mitochondria.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Fiermonte G, Paradies E, Todisco S, Marobbio CM, Palmieri F", "evidence": [ { "database": "Reactome", "id": "R-HSA-199220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-199220" } ], "reference": [ { "type": "PubMed", "id": "19429682", "url": "https://glygen.org/publication/PubMed/19429682" } ] }, { "title": "Association of PDZ-containing protein PDZD11 with the human sodium-dependent multivitamin transporter.", "journal": "American journal of physiology. Gastrointestinal and liver physiology", "date": "2011", "authors": "Nabokina SM, Subramanian VS, Said HM", "evidence": [ { "database": "Reactome", "id": "R-HSA-199220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-199220" } ], "reference": [ { "type": "PubMed", "id": "21183659", "url": "https://glygen.org/publication/PubMed/21183659" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "A family of metal-dependent phosphatases implicated in metabolite damage-control.", "journal": "Nature chemical biology", "date": "2016-08", "authors": "Huang 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"Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology", "date": "2019", "authors": "Heneberg P, Riegerova K, Rihova A, Simcikova D, Kucera P", "evidence": [ { "database": "RefSeq", "id": "NP_005012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005012" } ], "reference": [ { "type": "PubMed", "id": "30288810", "url": "https://glygen.org/publication/PubMed/30288810" } ] }, { "title": "Nudt8 is a novel CoA diphosphohydrolase that resides in the mitochondria.", "journal": "FEBS letters", "date": "2019", "authors": "Kerr EW, Shumar SA, Leonardi R", "evidence": [ { "database": "Reactome", "id": "R-HSA-199220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-199220" } ], "reference": [ { "type": "PubMed", "id": "31004344", "url": "https://glygen.org/publication/PubMed/31004344" } ] }, { "title": "Regulation of coenzyme A levels by degradation: the 'Ins and Outs'.", "journal": "Progress in lipid research", "date": "2020-04", "authors": "Naquet Philippe, Kerr Evan W, Vickers Schuyler D, Leonardi Roberta", "evidence": [ { "database": "Reactome", "id": "R-HSA-199220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-199220" } ], "reference": [ { "type": "PubMed", "id": "32234503", "url": "https://glygen.org/publication/PubMed/32234503" } ] }, { "title": "Activated steady status and distinctive FcepsilonRI-mediated responsiveness in basophils of atopic dermatitis.", "journal": "Allergology international : official journal of the Japanese Society of Allergology", "date": "2021", "authors": "Imamura S, Washio K, Mizuno M, Oda Y, Fukunaga A, Nishigori C", "evidence": [ { "database": "RefSeq", "id": "NP_005012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005012" } ], "reference": [ { "type": "PubMed", "id": "33674191", "url": "https://glygen.org/publication/PubMed/33674191" } ] }, { "title": "Serum CD203c+ Extracellular Vesicle Serves as a Novel Diagnostic and Prognostic Biomarker for Succinylated Gelatin Induced Perioperative Hypersensitive Reaction.", "journal": "Frontiers in immunology", "date": "2021", "authors": "Qi Z, Xue Q, Wang H, Cao B, Su Y, Xing Q, Yang JJ", "evidence": [ { "database": "RefSeq", "id": "NP_005012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005012" } ], "reference": [ { "type": "PubMed", "id": "34650557", "url": "https://glygen.org/publication/PubMed/34650557" } ] }, { "title": "Identification of CD203c as a New Basophil-Specific Flow-Marker in Ph+ Chronic Myeloid Leukemia.", "journal": "Cells", "date": "2022-12-20", "authors": "Sadovnik Irina, Ivanov Daniel, Smiljkovic Dubravka, Stefanzl Gabriele, Degenfeld-Schonburg Lina, Herndlhofer Susanne, Eisenwort Gregor, Hauswirth Alexander W, Sliwa Thamer, Keil Felix, Sperr Wolfgang R, Valent Peter", "evidence": [ { "database": "RefSeq", "id": "NP_005012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005012" } ], "reference": [ { "type": "PubMed", "id": "36611797", "url": 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"MDSRLALATEEPIKKDSLKRYKILCAVLLALLVIVSLGLGLGLGLRKPEEHIGSCRKKCFDSSHRGLEGCRCDSGCTDRGDCCWDFEDTCVKSTQIWTCNSFRCGETRLEAALCSCADDCLQRKDCCTDYKAVCQGEVPWVTEACASSQEPQCPEGFDQPPVILFSMDGFRAEYLQTWSTLLPNINKLKTCGLHSKYMRAMYPTKTFPNHYTIVTGLYPESHGIIDNNMYDVYLNKNFSLSSVEKSNPAWWSGQPIWLTAMYQGLKAASYYWPGSDVAVNGSFPNIYRNYSNSVPYESRIATLLQWLDLPKAERPSFYTIYVEEPDSAGHKSGPVSAGVIKALQLVDDAFGMLMEGLKQRNLHNCVNIIVLADHGMDQTSCDRVEYMTDYFPEINFYMYQGPAPRIRTRNIPQDFFTFNSEEIVRDLSCRKSDQHFKPYLTPDLPKRLHYAKNVRIDKVHLMVDRQWLAYRNKGSSNCEGGTHGYNNEFKSMEAIFLAHGPSFKEKTVIEPFENIEVYNLLCDLLHIQPAPNNGSHGSLNHLLKAPFYQPSHAEELSKSAGCGFTTPLPKDSLNCSCLALQTSGQEEQVNQRLNLSGGEVSATEKTNLPFGRPRVIQKNKDHCLLYHREYVSGFGKAMKMPMWSSYTVPKPGDTSSLPPTVPDCLRADVRVDPSESQKCSFYLADQNIDHGFLYPPAIKGNNESQYDALITSNLVPMYKEFKKMWDYFHKVLLIKYAIERNGVNVVSGPIFDYNYDGHFDAPDEITNYVAGTDVPVPTHYFVVLTSCKNKTHTPDSCPGWLDVLPFVVPHRPTNVESCPENKAEDLWVEERFKAHIARVRDVELLTGLDFYQEKTQPVSEILQLKTYLPTFETII", "length": 875 }, "evidence": [ { "id": "45933668", "url": "http://www.informatics.jax.org/homology/45933668", "database": 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"MDSRLALATEEPIKKDSLKKYKILCVVLLALLVIVSLGLGLGLGLRKPEEQGSCRKKCFDSSHRGLEGCRCDSGCTGRGDCCWDFEDTCVKSTQIWTCNLFRCGENRLETALCSCADDCLQRKDCCADYKTVCQGESPWVTEACASSQEPQCPPGFDLPPVILFSMDGFRAEYLQTWSTLLPNINKLKTCGIHSKYMRAMYPTKTFPNHYTIVTGLYPESHGIIDNNMYDVHLNKNFSLSSVEKSNPAWWSGQPIWLTAMYQGLKAACYYWPGSDVAVNGSFPTIYRNYSNSVPYERRITTLLQWLDLPKADRPSFYTIYVEEPDSAGHSSGPVSAGVIKALQSVDNAFGMLMEGLKQRNLHNCVNIIVLADHGMDQTSCDRVEYMTDYFPKINFYMYQGPAPRIRTRNIPQDFFTFNSEEIVRNLSCRKPDQHFKPYLTPDLPKRLHYAKNVRIDKAHLMVDRQWLAFRSKGSSNCGGGTHGYNNEFKSMEAIFLAHGPSFIEKTVIEPFENIEVYNLLCDLLHIEPAPNNGTHGSLNHLLKTPFYKPSHAGELSTPADCGFTTPLPTDPLDCSCPALQNTPGLEEQANQRLNLSEGEVAATVKANLPFGRPRVMQKNGDHCLLYHRDYISGYGKAMKMPMWSSYTVLKPGDTSSLPPTVPDCLRADVRVAPSESQKCSFYLADKNITHGFLYPAIKGTNESRYDALITSNLVPMYKEFKKMWDYFHEVLLIKYAIERNGLNVVSGPIFDYNYDGHFDAPDEITQYVAGTDVPIPTHYFVVLTSCKDQTHTPDSCPGWLDVLPFIVPHRPTNIESCSENKTEDLWVEERFQAHAARVRDVELLTGLDFYQEKAQPVSQILQLKTYLPTFETII", "length": 874 }, "evidence": [ { "id": "45933668", "url": "http://www.informatics.jax.org/homology/45933668", "database": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0004528", "evidence": [ { "database": "UniProtKB", "id": "O14638", "url": "https://www.uniprot.org/uniprot/O14638" } ], "pmid": "" }, { "name": "nucleoside triphosphate diphosphatase activity", "id": "GO:0047429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047429", "evidence": [ { "database": "UniProtKB", "id": "O14638", "url": "https://www.uniprot.org/uniprot/O14638" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "O14638", "url": "https://www.uniprot.org/uniprot/O14638" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O14638", "url": "https://www.uniprot.org/uniprot/O14638" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O14638", "url": "https://www.uniprot.org/uniprot/O14638" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "O14638", "url": "https://www.uniprot.org/uniprot/O14638" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "O14638", "url": "https://www.uniprot.org/uniprot/O14638" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O14638", "url": "https://www.uniprot.org/uniprot/O14638" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 9, "go_terms": [ { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "O14638", "url": "https://www.uniprot.org/uniprot/O14638" } ], "pmid": "" }, { "name": "phosphate-containing compound metabolic process", "id": "GO:0006796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006796", "evidence": [ { "database": "UniProtKB", "id": "O14638", "url": "https://www.uniprot.org/uniprot/O14638" } ], "pmid": "" }, { "name": "phosphate ion homeostasis", "id": "GO:0055062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055062", "evidence": [ { "database": "UniProtKB", "id": "O14638", "url": "https://www.uniprot.org/uniprot/O14638" } ], "pmid": "" }, { "name": "ATP metabolic process", "id": "GO:0046034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046034", "evidence": [ { "database": "UniProtKB", "id": "O14638", "url": "https://www.uniprot.org/uniprot/O14638" } ], "pmid": "" }, { "name": "nucleoside triphosphate catabolic process", "id": "GO:0009143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009143", "evidence": [ { "database": "UniProtKB", "id": "O14638", "url": "https://www.uniprot.org/uniprot/O14638" } ], "pmid": "" }, { "name": "negative regulation of mast cell proliferation", "id": "GO:0070667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070667", "evidence": [ { "database": "UniProtKB", "id": "O14638", "url": "https://www.uniprot.org/uniprot/O14638" } ], "pmid": "" }, { "name": "negative regulation of mast cell activation involved in immune response", "id": "GO:0033007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033007", "evidence": [ { "database": "UniProtKB", "id": "O14638", "url": "https://www.uniprot.org/uniprot/O14638" } ], "pmid": "" }, { "name": "pyrimidine nucleotide metabolic process", "id": "GO:0006220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006220", "evidence": [ { "database": "UniProtKB", "id": "O14638", "url": "https://www.uniprot.org/uniprot/O14638" } ], "pmid": "" }, { "name": "basophil activation involved in immune response", "id": "GO:0002276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002276", "evidence": [ { "database": "UniProtKB", "id": "O14638", "url": "https://www.uniprot.org/uniprot/O14638" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 236, "end_pos": 238, "annotation": "n_glycosylation_sequon" }, { "start_pos": 279, "end_pos": 281, "annotation": "n_glycosylation_sequon" }, { "start_pos": 290, "end_pos": 292, "annotation": "n_glycosylation_sequon" }, { "start_pos": 426, "end_pos": 428, "annotation": "n_glycosylation_sequon" }, { "start_pos": 533, "end_pos": 535, "annotation": "n_glycosylation_sequon" }, { "start_pos": 582, "end_pos": 584, "annotation": "n_glycosylation_sequon" }, { "start_pos": 594, "end_pos": 596, "annotation": "n_glycosylation_sequon" }, { "start_pos": 687, "end_pos": 689, "annotation": "n_glycosylation_sequon" }, { "start_pos": 699, "end_pos": 701, "annotation": "n_glycosylation_sequon" }, { "start_pos": 789, "end_pos": 791, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "23996", "name": "", "equation": "a ribonucleoside 5'-triphosphate + H2O = a ribonucleoside 5'-phosphate + diphosphate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97675-1", "Q924C3-1", "D3ZW55-1", "O14638-1", "P22413-1", "Q9BY32-1", "Q9NV35-1", "P06802-1", "Q6DYE8-1", "Q9D892-1", "Q8BG93-1", "P25353-1", "P39997-1", "P47119-1", "Q55G28-1", "Q54LQ6-1", "Q9VMW7-1" ], "evidence": [ { "id": "23996", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/23996" } ] }, { "id": "44644", "name": "", "equation": "a 2'-deoxyribonucleoside 5'-triphosphate + H2O = a 2'-deoxyribonucleoside 5'-phosphate + diphosphate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97675-1", "D3ZW55-1", "O14638-1", "Q9BY32-1", "Q9NV35-1", "Q6DYE8-1", "Q9D892-1", "Q8BG93-1", "P25353-1", "P39997-1", "P47119-1", "Q55G28-1", "Q54LQ6-1", "Q9VMW7-1" ], "evidence": [ { "id": "44644", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/44644" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "D3ZW55", "gene_name": "Itpa", "activity": [ { "ec_number": "3.6.1.9", "activity": "CTP + H2O = CMP + diphosphate + H(+).", "evidence": [ { "id": "D3ZW55", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZW55" } ] }, { "ec_number": "3.6.1.9", "activity": "", "evidence": [ { "id": "D3ZW55", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZW55" } ] } ] }, { "uniprot_ac": "O14638", "gene_name": "ENPP3", "activity": [ { "ec_number": "3.1.4.1", "activity": "Hydrolytically removes 5'-nucleotides successively from the 3'-hydroxy termini of 3'-hydroxy-terminated oligonucleotides.", "evidence": [ { "id": "O14638", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14638" } ] }, { "ec_number": "3.6.1.9", "activity": "CTP + H2O = CMP + diphosphate + H(+).", "evidence": [ { "id": "O14638", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14638" } ] }, { "ec_number": "3.1.4.1", "activity": "", "evidence": [ { "id": "O14638", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14638" } ] }, { "ec_number": "3.6.1.9", "activity": "", "evidence": [ { "id": "O14638", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14638" } ] } ] }, { "uniprot_ac": "P06802", "gene_name": "Enpp1", "activity": [ { "ec_number": "3.1.4.1", "activity": "Hydrolytically removes 5'-nucleotides successively from the 3'-hydroxy termini of 3'-hydroxy-terminated oligonucleotides.", "evidence": [ { "id": "P06802", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06802" } ] }, { "ec_number": "3.6.1.9", "activity": "CTP + H2O = CMP + diphosphate + H(+).", "evidence": [ { "id": "P06802", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06802" } ] } ] }, { "uniprot_ac": "P22413", "gene_name": "ENPP1", "activity": [ { "ec_number": "3.1.4.1", "activity": "Hydrolytically removes 5'-nucleotides successively from the 3'-hydroxy termini of 3'-hydroxy-terminated oligonucleotides.", "evidence": [ { "id": "P22413", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22413" } ] }, { "ec_number": "3.6.1.9", "activity": "CTP + H2O = CMP + diphosphate + H(+).", "evidence": [ { "id": "P22413", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22413" } ] } ] }, { "uniprot_ac": "P25353", "gene_name": "NPP1", "activity": [ { "ec_number": "3.1.4.1", "activity": "Hydrolytically removes 5'-nucleotides successively from the 3'-hydroxy termini of 3'-hydroxy-terminated oligonucleotides.", "evidence": [ { "id": "P25353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25353" } ] }, { "ec_number": "3.6.1.9", "activity": "CTP + H2O = CMP + diphosphate + H(+).", "evidence": [ { "id": "P25353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25353" } ] } ] }, { "uniprot_ac": "P39997", "gene_name": "NPP2", "activity": [ { "ec_number": "3.1.4.1", "activity": "Hydrolytically removes 5'-nucleotides successively from the 3'-hydroxy termini of 3'-hydroxy-terminated oligonucleotides.", "evidence": [ { "id": "P39997", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P39997" } ] }, { "ec_number": "3.6.1.9", "activity": "CTP + H2O = CMP + diphosphate + H(+).", "evidence": [ { "id": "P39997", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P39997" } ] } ] }, { "uniprot_ac": "P47119", "gene_name": "HAM1", "activity": [ { "ec_number": "3.6.1.9", "activity": "CTP + H2O = CMP + diphosphate + H(+).", "evidence": [ { "id": "P47119", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P47119" } ] }, { "ec_number": "3.6.1.9", "activity": "", "evidence": [ { "id": "P47119", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P47119" } ] } ] }, { "uniprot_ac": "P97675", "gene_name": "Enpp3", "activity": [ { "ec_number": "3.1.4.1", "activity": "Hydrolytically removes 5'-nucleotides successively from the 3'-hydroxy termini of 3'-hydroxy-terminated oligonucleotides.", "evidence": [ { "id": "P97675", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P97675" } ] }, { "ec_number": "3.6.1.9", "activity": "CTP + H2O = CMP + diphosphate + H(+).", "evidence": [ { "id": "P97675", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P97675" } ] }, { "ec_number": "3.1.4.1", "activity": "", "evidence": [ { "id": "P97675", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P97675" } ] }, { "ec_number": "3.6.1.9", "activity": "", "evidence": [ { "id": "P97675", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P97675" } ] } ] }, { "uniprot_ac": "Q54LQ6", "gene_name": "itpa", "activity": [ { "ec_number": "3.6.1.9", "activity": "CTP + H2O = CMP + diphosphate + H(+).", "evidence": [ { "id": "Q54LQ6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54LQ6" } ] }, { "ec_number": "3.6.1.9", "activity": "", "evidence": [ { "id": "Q54LQ6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54LQ6" } ] } ] }, { "uniprot_ac": "Q55G28", "gene_name": "", "activity": [ { "ec_number": "3.6.1.9", "activity": "CTP + H2O = CMP + diphosphate + H(+).", "evidence": [ { "id": "Q55G28", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55G28" } ] }, { "ec_number": "3.6.1.9", "activity": "", "evidence": [ { "id": "Q55G28", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55G28" } ] } ] }, { "uniprot_ac": "Q6DYE8", "gene_name": "Enpp3", "activity": [ { "ec_number": "3.1.4.1", "activity": "Hydrolytically removes 5'-nucleotides successively from the 3'-hydroxy termini of 3'-hydroxy-terminated oligonucleotides.", "evidence": [ { "id": "Q6DYE8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6DYE8" } ] }, { "ec_number": "3.6.1.9", "activity": "CTP + H2O = CMP + diphosphate + H(+).", "evidence": [ { "id": "Q6DYE8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6DYE8" } ] }, { "ec_number": "3.1.4.1", "activity": "", "evidence": [ { "id": "Q6DYE8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6DYE8" } ] }, { "ec_number": "3.6.1.9", "activity": "", "evidence": [ { "id": "Q6DYE8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6DYE8" } ] } ] }, { "uniprot_ac": "Q8BG93", "gene_name": "Nudt15", "activity": [ { "ec_number": "3.6.1.9", "activity": "CTP + H2O = CMP + diphosphate + H(+).", "evidence": [ { "id": "Q8BG93", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BG93" } ] }, { "ec_number": "3.6.1.9", "activity": "", "evidence": [ { "id": "Q8BG93", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BG93" } ] } ] }, { "uniprot_ac": "Q924C3", "gene_name": "Enpp1", "activity": [ { "ec_number": "3.1.4.1", "activity": "Hydrolytically removes 5'-nucleotides successively from the 3'-hydroxy termini of 3'-hydroxy-terminated oligonucleotides.", "evidence": [ { "id": "Q924C3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q924C3" } ] }, { "ec_number": "3.6.1.9", "activity": "CTP + H2O = CMP + diphosphate + H(+).", "evidence": [ { "id": "Q924C3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q924C3" } ] } ] }, { "uniprot_ac": "Q9BY32", "gene_name": "ITPA", "activity": [ { "ec_number": "3.6.1.9", "activity": "CTP + H2O = CMP + diphosphate + H(+).", "evidence": [ { "id": "Q9BY32", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BY32" } ] }, { "ec_number": "3.6.1.9", "activity": "", "evidence": [ { "id": "Q9BY32", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BY32" } ] } ] }, { "uniprot_ac": "Q9D892", "gene_name": "Itpa", "activity": [ { "ec_number": "3.6.1.9", "activity": "CTP + H2O = CMP + diphosphate + H(+).", "evidence": [ { "id": "Q9D892", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D892" } ] }, { "ec_number": "3.6.1.9", "activity": "", "evidence": [ { "id": "Q9D892", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D892" } ] } ] }, { "uniprot_ac": "Q9NV35", "gene_name": "NUDT15", "activity": [ { "ec_number": "3.6.1.9", "activity": "CTP + H2O = CMP + diphosphate + H(+).", "evidence": [ { "id": "Q9NV35", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NV35" } ] }, { "ec_number": "3.6.1.9", "activity": "", "evidence": [ { "id": "Q9NV35", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NV35" } ] } ] }, { "uniprot_ac": "Q9VMW7", "gene_name": "", "activity": [ { "ec_number": "3.6.1.9", "activity": "CTP + H2O = CMP + diphosphate + H(+).", "evidence": [ { "id": "Q9VMW7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VMW7" } ] }, { "ec_number": "3.6.1.9", "activity": "", "evidence": [ { "id": "Q9VMW7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VMW7" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 236, 279, 290, 426, 532, 533, 540, 582, 594, 619, 687, 699, 789 ], "o_linked_sites": [], "snv_sites": [ 34, 60, 185, 236, 247, 279, 281, 290, 292, 385, 426, 428, 439, 533, 535, 558, 584, 594, 609, 653, 687, 699, 710, 736, 789 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 236, "end_pos": 238 }, { "start_pos": 279, "end_pos": 281 }, { "start_pos": 290, "end_pos": 292 }, { "start_pos": 426, "end_pos": 428 }, { "start_pos": 533, "end_pos": 535 }, { "start_pos": 582, "end_pos": 584 }, { "start_pos": 594, "end_pos": 596 }, { "start_pos": 687, "end_pos": 689 }, { "start_pos": 699, "end_pos": 701 }, { "start_pos": 789, "end_pos": 791 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 13 }, { "field": "total_sites", "count": 13 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 13 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "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": 13 }, { "field": "total_sites", "count": 13 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 13 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 29 }, { "field": "total_sites", "count": 25 } ], "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": 7 }, { "field": "total_sites", "count": 7 } ], "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": 22 }, { "field": "total_sites", "count": 19 } ], "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": 27 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }