{ "uniprot_canonical_ac": "P04075-1", "uniprot_ac": "P04075", "uniprot_id": "ALDOA_HUMAN", "mass": { "chemical_mass": 39420.0, "monoisotopic_mass": 39420.0 }, "refseq": {}, "gene_names": [ { "name": "ALDOA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P04075", "id": "P04075" }, { "name": "ALDA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04075", "id": "P04075" }, { "name": "hCG_1811258", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04075", "id": "P04075" } ], "protein_names": [ { "name": "Fructose-bisphosphate aldolase A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P04075" }, { "name": "4.1.2.13", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04075" }, { "name": "Lung cancer antigen NY-LU-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04075" }, { "name": "Muscle-type aldolase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04075" } ], "function": [ { "annotation": "Catalyzes the reversible conversion of beta-D-fructose 1,6-bisphosphate (FBP) into two triose phosphate and plays a key role in glycolysis and gluconeogenesis (PubMed:14766013). In addition, may also function as scaffolding protein (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075#function" }, { "database": "PubMed", "id": "14766013", "url": "https://glygen.org/publication/PubMed/14766013" } ] } ], "disease": [ { "disease_id": "MONDO:0012747", "recommended_name": { "id": "MONDO:0012747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012747", "name": "glycogen storage disease due to aldolase A deficiency", "description": "Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported." }, "synonyms": [ { "id": "MONDO:0012747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012747", "name": "GSD due to aldolase A deficiency", "description": "" }, { "id": "MONDO:0012747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012747", "name": "GSD type 12", "description": "" }, { "id": "MONDO:0012747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012747", "name": "GSD type XII", "description": "" }, { "id": "MONDO:0012747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012747", "name": "glycogen storage disease due to aldolase A deficiency", "description": "" }, { "id": "MONDO:0012747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012747", "name": "glycogen storage disease type 12", "description": "" }, { "id": "MONDO:0012747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012747", "name": "glycogen storage disease type XII", "description": "" }, { "id": "MONDO:0012747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012747", "name": "glycogenosis due to aldolase A deficiency", "description": "" }, { "id": "MONDO:0012747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012747", "name": "glycogenosis type 12", "description": "" }, { "id": "MONDO:0012747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012747", "name": "glycogenosis type XII", "description": "" }, { "id": "MONDO:0012747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012747", "name": "Aldoa deficiency", "description": "" }, { "id": "MONDO:0012747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012747", "name": "GSD 12", "description": "" }, { "id": "MONDO:0012747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012747", "name": "GSD12", "description": "" }, { "id": "MONDO:0012747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012747", "name": "Red cell aldolase deficiency", "description": "" }, { "id": "MONDO:0012747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012747", "name": "aldolase a deficiency", "description": "" }, { "id": "MONDO:0012747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012747", "name": "aldolase deficiency red cell", "description": "" }, { "id": "MONDO:0012747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012747", "name": "aldolase deficiency, Red cell", "description": "" }, { "id": "MONDO:0012747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012747", "name": "glycogen storage disease 12", "description": "" }, { "id": "MONDO:0012747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012747", "name": "glycogen storage disease XII", "description": "" }, { "id": "MIM:611881", "resource": "MIM", "url": "https://www.omim.org/entry/611881", "name": "Glycogen storage disease 12", "description": "Glycogen storage disease 12" } ], "evidence": [ { "id": "611881", "database": "MIM", "url": "https://www.omim.org/entry/611881" } ] } ], "snv": [ { "evidence": [ { "id": "rs142957871", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142957871" }, { "id": "rs142957871", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142957871" }, { "id": "rs142957871", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142957871#frequency_tab" }, { "id": "rs142957871", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142957871" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 169, "end_pos": 169, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAN->NAS).", "chr_id": "16", "chr_pos": "30068944", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N169", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1040451681", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1040451681" }, { "id": "rs1040451681", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1040451681#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 243, "end_pos": 243, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KFS->NFS).", "chr_id": "16", "chr_pos": "30069603", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K243", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P04075", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04075" }, { "id": "rs543994647", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs543994647" }, { "id": "rs543994647", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs543994647" }, { "id": "rs543994647", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs543994647" }, { "id": "rs543994647", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs543994647" }, { "id": "rs543994647", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs543994647#frequency_tab" }, { "id": "rs543994647", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs543994647" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 285, "end_pos": 285, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NLN->NLS).", "chr_id": "16", "chr_pos": "30069884", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N285", "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", "ebi", "germline" ] }, { "evidence": [ { "id": "rs759944428", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759944428" }, { "id": "rs759944428", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759944428" }, { "id": "rs759944428", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759944428#frequency_tab" }, { "id": "rs759944428", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759944428" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 290, "end_pos": 290, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKC->NKS).", "chr_id": "16", "chr_pos": "30069899", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C290", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1398401558", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1398401558" }, { "id": "rs1398401558", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1398401558" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 344, "end_pos": 344, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "16", "chr_pos": "30070148", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T344", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P04075", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04075" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 344, "end_pos": 344, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->N).", "chr_id": "16", "chr_pos": "30070148", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T344", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs776994056", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776994056" }, { "id": "rs776994056", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776994056" }, { "id": "rs776994056", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776994056#frequency_tab" }, { "id": "rs776994056", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776994056" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 344, "end_pos": 344, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->P).", "chr_id": "16", "chr_pos": "30070147", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T344", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1213215665", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1213215665" }, { "id": "rs1213215665", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1213215665" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 354, "end_pos": 354, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->G).", "chr_id": "16", "chr_pos": "30070177", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S354", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766537404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766537404" }, { "id": "rs766537404", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766537404" }, { "id": "rs766537404", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766537404" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 354, "end_pos": 354, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->I).", "chr_id": "16", "chr_pos": "30070178", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S354", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P04075", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04075" }, { "id": "rs756789043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756789043" }, { "id": "rs756789043", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756789043" }, { "id": "rs756789043", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756789043" }, { "id": "rs756789043", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756789043" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 363, "end_pos": 363, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NHA->NHT).", "chr_id": "16", "chr_pos": "30070204", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A363", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "99.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149925", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149925" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "99.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149925", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149925" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "99.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149925", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149925" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "99.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149925", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149925" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149925", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149925" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "99.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149925", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149925" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "99.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149925", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149925" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "99.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149925", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149925" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "99.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149925", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149925" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "98.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149925", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149925" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "96.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149925", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149925" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "99.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149925", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149925" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "99.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149925", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149925" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P04075", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04075" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P04075", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04075" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P04075", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04075" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P04075", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04075" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P04075", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04075" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P04075", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04075" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P04075", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04075" } ], "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": "P04075", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04075" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P04075", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04075" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P04075", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04075" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P04075", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04075" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P04075", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04075" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "common_name": "Human" } ], "gene": [ { "name": "ALDOA", "url": "https://www.uniprot.org/uniprot/P04075", "locus": { "chromosome": "16", "start_pos": 22245, "end_pos": 17591, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "LRG_1180", "url": "https://www.ensembl.org/id/LRG_1180" } ] } } ], "crossref": [ { "id": "ENSG00000149925", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149925", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P04075", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04075", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "4.1.2.13", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=4.1.2.13&UniProtAcc=P04075", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd00948", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00948", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL2106", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL2106", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "ALDOA", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDOA", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "226", "url": "https://www.ncbi.nlm.nih.gov/gene/226", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "414", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=414", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "H3BPS8", "url": "https://www.ebi.ac.uk/intact/interactors/id:H3BPS8*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "P04075", "url": "https://www.ebi.ac.uk/intact/interactors/id:P04075*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000741", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000741", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013785", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013785", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029768", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029768", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:226", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:226", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "103850", "url": "http://www.omim.org/entry/103850", "database": "MIM", "categories": [ "Other" ] }, { "id": "611881", "url": "http://www.omim.org/entry/611881", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P04075", "url": "https://www.nextprot.org/entry/NX_P04075", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P04075", "url": "https://oglcnac.org/atlas/detail/P04075", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P04075", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04075", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "WRAVITI", "url": "https://omabrowser.org/oma/group/WRAVITI/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3664741at2759", "url": "http://www.orthodb.org/?query=3664741at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11627", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11627", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11627:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11627:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1ALD", "url": "https://www.rcsb.org/structure/1ALD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2ALD", "url": "https://www.rcsb.org/structure/2ALD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4ALD", "url": "https://www.rcsb.org/structure/4ALD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5KY6", "url": "https://www.rcsb.org/structure/5KY6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6XMH", "url": "https://www.rcsb.org/structure/6XMH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6XML", "url": "https://www.rcsb.org/structure/6XML", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6XMM", "url": "https://www.rcsb.org/structure/6XMM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6XMO", "url": "https://www.rcsb.org/structure/6XMO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00274", "url": "http://pfam.xfam.org/family/PF00274", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P04075", "url": "https://pharos.nih.gov/targets/P04075", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P04075", "url": "http://purl.obolibrary.org/obo/PR_P04075", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000025", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000025", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "14729", "url": "https://www.rhea-db.org/rhea/14729", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "H3BMQ8", "url": "https://www.uniprot.org/uniprot/H3BMQ8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BMQ8-1", "url": "https://www.uniprot.org/uniprot/H3BMQ8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BPS8", "url": "https://www.uniprot.org/uniprot/H3BPS8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BPS8-1", "url": "https://www.uniprot.org/uniprot/H3BPS8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BQN4", "url": "https://www.uniprot.org/uniprot/H3BQN4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BQN4-1", "url": "https://www.uniprot.org/uniprot/H3BQN4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BR04", "url": "https://www.uniprot.org/uniprot/H3BR04", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BR04-1", "url": "https://www.uniprot.org/uniprot/H3BR04-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BR68", "url": "https://www.uniprot.org/uniprot/H3BR68", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BR68-1", "url": "https://www.uniprot.org/uniprot/H3BR68-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BU78", "url": "https://www.uniprot.org/uniprot/H3BU78", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BU78-1", "url": "https://www.uniprot.org/uniprot/H3BU78-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BUH7", "url": "https://www.uniprot.org/uniprot/H3BUH7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BUH7-1", "url": "https://www.uniprot.org/uniprot/H3BUH7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KPS3", "url": "https://www.uniprot.org/uniprot/J3KPS3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KPS3-1", "url": "https://www.uniprot.org/uniprot/J3KPS3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04075-1", "url": "https://www.uniprot.org/uniprot/P04075-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04075-2", "url": "https://www.uniprot.org/uniprot/P04075-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPYQYPALTPEQKKELSDIAHRIVAPGKGILAADESTGSIAKRLQSIGTENTEENRRFYRQLLLTADDRVNPCIGGVILFHETLYQKADDGRPFPQVIKSKGGVVGIKVDKGVVPLAGTNGETTTQGLDGLSERCAQYKKDGADFAKWRCVLKIGEHTPSALAIMENANVLARYASICQQNGIVPIVEPEILPDGDHDLKRCQYVTEKVLAAVYKALSDHHIYLEGTLLKPNMVTPGHACTQKFSHEEIAMATVTALRRTVPPAVTGITFLSGGQSEEEASINLNAINKCPLLKPWALTFSYGRALQASALKAWGGKKENLKAAQEEYVKRALANSLACQGKYTPSGQAGAAASESLFVSNHAY", "length": 364, "header": "sp|P04075-1|ALDOA_HUMAN Isoform 1 of Fructose-bisphosphate aldolase A OS=Homo sapiens OX=9606 GN=ALDOA PE=1 SV=2 CANONICAL=P04075-1" }, "isoforms": [ { "isoform_ac": "H3BMQ8-1", "url": "", "sequence": { "sequence": "MPYQYPALTPEQKKELSDIAHRIVAPGSIAKRLQSIGTENTEENRRFYRQLLLTADDRVNPCIGGVILFHETLYQKADDGRPFPQVIKSKGGVVGIKVDKGVVPLAGTNGETTTQGLDGLSERCAQYKKDGADFAKWRCV", "length": 140, "header": "tr|H3BMQ8-1|ALDOA_HUMAN Computationally mapped isoform of Fructose-bisphosphate aldolase A OS=Homo sapiens OX=9606 GN=ALDOA PE=1 SV=1 CANONICAL=P04075-1" }, "locus": { "chromosome": "16", "start_pos": 30068891, "end_pos": 30067255, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000566846.5", "url": "https://www.ensembl.org/id/ENST00000566846.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000454499.1", "url": "https://www.ensembl.org/id/ENSP00000454499.1" } ] } }, { "isoform_ac": "H3BPS8-1", "url": "", "sequence": { "sequence": "MARRKPEGSSFNMTHLSMAMAFSFPPVASGQLHPQLGNTQHQTELGKELATTSTMPYQYPALTPEQKKELSDIAHRIVAPGKGILAADESTGSIAKRLQSIGTENTEENRRFYRQLLLTADDRVNPCIGGVILFHETLYQKADDGRPFPQVIKSKGGVVGIKVDKGVVPLAGTNGETTTQGLDGLSERCAQYKKDGADFAKWRCVLKIGEHTPSALAIMENANVLARYASICQQNGIVPIVEPEILPDGDHDLKRCQYVTEKVLAAVYKALSDHHIYL", "length": 278, "header": "tr|H3BPS8-1|ALDOA_HUMAN Computationally mapped isoform of Fructose-bisphosphate aldolase A OS=Homo sapiens OX=9606 GN=ALDOA PE=1 SV=1 CANONICAL=P04075-1" }, "locus": { "chromosome": "16", "start_pos": 30069546, "end_pos": 30066898, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000562679.5", "url": "https://www.ensembl.org/id/ENST00000562679.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000455455.1", "url": "https://www.ensembl.org/id/ENSP00000455455.1" } ] } }, { "isoform_ac": "H3BQN4-1", "url": "", "sequence": { "sequence": "MPYQYPALTPEQKKELSDIAHRIVAPGKGILAADESTGSIAKRLQSIGTENTEENRRFYRQLLLTADDRVNPCIGGVILFHETLYQKADDGRPFPQVIKSKGGVVGIKVDKGVVPLAGTNGETTTQGLDGLSERCAQYKKDGADFAKWRCVLKIGEHTPSALAIMENANVLARYASICQQNGIVPIVEPEILPDGDHDLKRCQYVTEKVLAAVYKALSDHHIYLEGTLLKPNMVTPGHACTQKFSHEEIAMATVTALRRTVPPAVTGITFLSGGQSEEEASINLNAINKCPLLKPWALTFSYGRALQASALKAWGGKKENLKAAQEEYVKRALVRIGRRWAGCLGGWDSEKSPSHSTPLPA", "length": 361, "header": "tr|H3BQN4-1|ALDOA_HUMAN Computationally mapped isoform of Fructose-bisphosphate aldolase A OS=Homo sapiens OX=9606 GN=ALDOA PE=1 SV=1 CANONICAL=P04075-1" }, "locus": { "chromosome": "16", "start_pos": 30070113, "end_pos": 30067255, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000569798.5", "url": "https://www.ensembl.org/id/ENST00000569798.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000455857.1", "url": "https://www.ensembl.org/id/ENSP00000455857.1" } ] } }, { "isoform_ac": "H3BR04-1", "url": "", "sequence": { "sequence": "MPYQYPALTPEQKKELSDIAHRIVAPGSIAKRLQSIGTENTEENRRFYRQLLLTADDRVNPCIGGVILFHETLYQKADDGRPFPQVIKSKGGVVGIKVDKGVVPLAGTNGETTTQGLDGLSERCAQYKKDGADFAKWRCVLKIGEHTPSALAIMENANVLAR", "length": 162, "header": "tr|H3BR04-1|H3BR04_HUMAN Computationally mapped isoform of Fructose-bisphosphate aldolase A OS=Homo sapiens OX=9606 GN=ALDOA PE=1 SV=1 CANONICAL=P04075-1" }, "locus": { "chromosome": "16", "start_pos": 30068957, "end_pos": 30067255, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000562168.5", "url": "https://www.ensembl.org/id/ENST00000562168.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456020.1", "url": "https://www.ensembl.org/id/ENSP00000456020.1" } ] } }, { "isoform_ac": "H3BR68-1", "url": "", "sequence": { "sequence": "XPGHACTQKFSHEEIAMATVTALRRTVPPAVTGITFLSGGQSEEEASINLNAINKCPLLKPWALTFSYGRALQASALKAWGGKKENLKAAQEEYVKRALANSLACQGKYTPSGQAGAAASESLFVSNHAY", "length": 130, "header": "tr|H3BR68-1|H3BR68_HUMAN Computationally mapped isoform of Fructose-bisphosphate aldolase A OS=Homo sapiens OX=9606 GN=ALDOA PE=1 SV=1 CANONICAL=P04075-1" }, "locus": { "chromosome": "16", "start_pos": 30070210, "end_pos": 30069578, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000565355.1", "url": "https://www.ensembl.org/id/ENST00000565355.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000456098.1", "url": "https://www.ensembl.org/id/ENSP00000456098.1" } ] } }, { "isoform_ac": "H3BU78-1", "url": "", "sequence": { "sequence": "RRFYRQLLLTADDRVNPCIGGVILFHETLYQKADDGRPFPQVIKSKGGVVGIKVDKGVVPLAGTNGETTTQGLDGLSERCAQYKKDGADFAKWRCVLKIGEHTPSALAIMENANVLARYASICQQVLAAVYKALSDHHIYLEGTLLKPNMVTPGHACTQKFSHEEIAMATVTALRRTVPPAVTGITFLSGGQSEEEASINLNAI", "length": 204, "header": "tr|H3BU78-1|H3BU78_HUMAN Computationally mapped isoform of Fructose-bisphosphate aldolase OS=Homo sapiens OX=9606 GN=ALDOA PE=1 SV=2 CANONICAL=P04075-1" }, "locus": { "chromosome": "16", "start_pos": 30069891, "end_pos": 30067503, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000564688.1", "url": "https://www.ensembl.org/id/ENST00000564688.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000457514.1", "url": "https://www.ensembl.org/id/ENSP00000457514.1" } ] } }, { "isoform_ac": "H3BUH7-1", "url": "", "sequence": { "sequence": "MPYQYPALTPEQKKELSDIAHRIVAPGKGILAADESTGSIAKRLQSIGTENTEENRRFYRQLLLTADDRVNPCIGGVILFHETLYQKADDGRPFPQVIKSKGGVVGIKVDKGVVPLAGTNGETTTQGLDGLSERCAQYKKDGADFAKWRCVLKIG", "length": 155, "header": "tr|H3BUH7-1|H3BUH7_HUMAN Computationally mapped isoform of Fructose-bisphosphate aldolase A OS=Homo sapiens OX=9606 GN=ALDOA PE=1 SV=1 CANONICAL=P04075-1" }, "locus": { "chromosome": "16", "start_pos": 30068903, "end_pos": 30067255, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000563987.5", "url": "https://www.ensembl.org/id/ENST00000563987.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000457643.1", "url": "https://www.ensembl.org/id/ENSP00000457643.1" } ] } }, { "isoform_ac": "J3KPS3-1", "url": "", "sequence": { "sequence": "MPYQYPALTPEQKKELSDIAHRIVAPGKGILAADESTGSIAKRLQSIGTENTEENRRFYRQLLLTADDRVNPCIGGVILFHETLYQKADDGRPFPQVIKSKGGVVGIKVDKGVVPLAGTNGETTTQGLDGLSERCAQYKKDGADFAKWRCVLKIGEHTPSALAIMENANVLARYASICQQVGLQNGIVPIVEPEILPDGDHDLKRCQYVTEKVLAAVYKALSDHHIYLEGTLLKPNMVTPGHACTQKFSHEEIAMATVTALRRTVPPAVTGITFLSGGQSEEEASINLNAINKCPLLKPWALTFSYGRALQASALKAWGGKKENLKAAQEEYVKRALANSLACQGKYTPSGQAGAAASESLFVSNHAY", "length": 368, "header": "tr|J3KPS3-1|J3KPS3_HUMAN Computationally mapped isoform of Fructose-bisphosphate aldolase OS=Homo sapiens OX=9606 GN=ALDOA PE=1 SV=1 CANONICAL=P04075-1" }, "locus": { "chromosome": "16", "start_pos": 30070209, "end_pos": 30067255, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395240.7", "url": "https://www.ensembl.org/id/ENST00000395240.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000378661.3", "url": "https://www.ensembl.org/id/ENSP00000378661.3" } ] } }, { "isoform_ac": "P04075-1", "url": "", "sequence": { "sequence": "MPYQYPALTPEQKKELSDIAHRIVAPGKGILAADESTGSIAKRLQSIGTENTEENRRFYRQLLLTADDRVNPCIGGVILFHETLYQKADDGRPFPQVIKSKGGVVGIKVDKGVVPLAGTNGETTTQGLDGLSERCAQYKKDGADFAKWRCVLKIGEHTPSALAIMENANVLARYASICQQNGIVPIVEPEILPDGDHDLKRCQYVTEKVLAAVYKALSDHHIYLEGTLLKPNMVTPGHACTQKFSHEEIAMATVTALRRTVPPAVTGITFLSGGQSEEEASINLNAINKCPLLKPWALTFSYGRALQASALKAWGGKKENLKAAQEEYVKRALANSLACQGKYTPSGQAGAAASESLFVSNHAY", "length": 364, "header": "sp|P04075-1|ALDOA_HUMAN Isoform 1 of Fructose-bisphosphate aldolase A OS=Homo sapiens OX=9606 GN=ALDOA PE=1 SV=2 CANONICAL=P04075-1" }, "locus": { "chromosome": "16", "start_pos": 30070209, "end_pos": 30067255, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000412304.6", "url": "https://www.ensembl.org/id/ENST00000412304.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000400452.2", "url": "https://www.ensembl.org/id/ENSP00000400452.2" } ] } }, { "isoform_ac": "P04075-2", "url": "", "sequence": { "sequence": "MARRKPEGSSFNMTHLSMAMAFSFPPVASGQLHPQLGNTQHQTELGKELATTSTMPYQYPALTPEQKKELSDIAHRIVAPGKGILAADESTGSIAKRLQSIGTENTEENRRFYRQLLLTADDRVNPCIGGVILFHETLYQKADDGRPFPQVIKSKGGVVGIKVDKGVVPLAGTNGETTTQGLDGLSERCAQYKKDGADFAKWRCVLKIGEHTPSALAIMENANVLARYASICQQNGIVPIVEPEILPDGDHDLKRCQYVTEKVLAAVYKALSDHHIYLEGTLLKPNMVTPGHACTQKFSHEEIAMATVTALRRTVPPAVTGITFLSGGQSEEEASINLNAINKCPLLKPWALTFSYGRALQASALKAWGGKKENLKAAQEEYVKRALANSLACQGKYTPSGQAGAAASESLFVSNHAY", "length": 418, "header": "sp|P04075-2|ALDOA_HUMAN Isoform 2 of Fructose-bisphosphate aldolase A OS=Homo sapiens OX=9606 GN=ALDOA PE=1 SV=2 CANONICAL=P04075-1" }, "locus": { "chromosome": "16", "start_pos": 30070209, "end_pos": 30066898, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642816.3", "url": "https://www.ensembl.org/id/ENST00000642816.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000496166.1", "url": "https://www.ensembl.org/id/ENSP00000496166.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 344, "start_aa": "Thr", "end_pos": 344, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr344", "evidence": [ { "id": "P04075", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04075" }, { "id": "16408927", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16408927" }, { "id": "14985449", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/14985449" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "20305658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20305658" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 354, "start_aa": "Ser", "end_pos": 354, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser354", "evidence": [ { "id": "P04075", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04075" }, { "id": "16408927", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16408927" }, { "id": "14985449", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/14985449" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "20305658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20305658" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "P04075", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P04075" }, { "id": "32938750", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32938750" } ] } ], "phosphorylation": [ { "start_pos": 132, "end_pos": 132, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "site_lbl": "Ser132" }, { "start_pos": 17, "end_pos": 17, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04075", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser17" }, { "start_pos": 204, "end_pos": 204, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04075", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ], "site_lbl": "Tyr204" }, { "start_pos": 223, "end_pos": 223, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04075", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "phospho.ELM", "id": "P04075", "url": "http://phospho.elm.eu.org/byAccession/P04075.html" } ], "site_lbl": "Tyr223" }, { "start_pos": 235, "end_pos": 235, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04075", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" }, { "database": "phospho.ELM", "id": "P04075", "url": "http://phospho.elm.eu.org/byAccession/P04075.html" } ], "site_lbl": "Thr235" }, { "start_pos": 241, "end_pos": 241, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04075", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" }, { "database": "phospho.ELM", "id": "P04075", "url": "http://phospho.elm.eu.org/byAccession/P04075.html" } ], "site_lbl": "Thr241" }, { "start_pos": 272, "end_pos": 272, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P04075", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075" } ], "site_lbl": "Ser272" }, { "start_pos": 354, "end_pos": 354, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04075", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" }, { "database": "phospho.ELM", "id": "P04075", "url": "http://phospho.elm.eu.org/byAccession/P04075.html" } ], "site_lbl": "Ser354" }, { "start_pos": 356, "end_pos": 356, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04075", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" }, { "database": "phospho.ELM", "id": "P04075", "url": "http://phospho.elm.eu.org/byAccession/P04075.html" } ], "site_lbl": "Ser356" }, { "start_pos": 36, "end_pos": 36, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "P04075", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser36" }, { "start_pos": 37, "end_pos": 37, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04075", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Thr37" }, { "start_pos": 39, "end_pos": 39, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "P04075", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18510355", "url": "https://glygen.org/publication/PubMed/18510355" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18702456", "url": "https://glygen.org/publication/PubMed/18702456" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "phospho.ELM", "id": "P04075", "url": "http://phospho.elm.eu.org/byAccession/P04075.html" } ], "site_lbl": "Ser39" }, { "start_pos": 3, "end_pos": 3, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04075", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "P04075", "url": "http://phospho.elm.eu.org/byAccession/P04075.html" } ], "site_lbl": "Tyr3" }, { "start_pos": 46, "end_pos": 46, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "P04075", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "P04075", "url": "http://phospho.elm.eu.org/byAccession/P04075.html" } ], "site_lbl": "Ser46" }, { "start_pos": 5, "end_pos": 5, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" }, { "database": "iPTMnet", "id": "P04075", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "P04075", "url": "http://phospho.elm.eu.org/byAccession/P04075.html" } ], "site_lbl": "Tyr5" }, { "start_pos": 65, "end_pos": 65, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04075", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "P04075", "url": "http://phospho.elm.eu.org/byAccession/P04075.html" }, { "database": "PubMed", "id": "16097034", "url": "https://glygen.org/publication/PubMed/16097034" } ], "site_lbl": "Thr65" }, { "start_pos": 9, "end_pos": 9, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P04075", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ], "site_lbl": "Thr9" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Crystal structure of human muscle aldolase complexed with fructose 1,6-bisphosphate: mechanistic implications.", "journal": "Protein Sci.", "date": "1999", "authors": "Dalby A, Dauter Z, Littlechild J A", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "reference": [ { "type": "PubMed", "id": "10048322", "url": "https://glygen.org/publication/PubMed/10048322" } ] }, { "title": "Structure, function and regulation of pyruvate carboxylase.", "journal": "The Biochemical journal", "date": "1999", "authors": "Jitrapakdee S, Wallace JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10229653", "url": "https://glygen.org/publication/PubMed/10229653" } ] }, { "title": "The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.", "journal": "Nature genetics", "date": "1999", "authors": "Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, Crackower MA, Kondo I, Tsui LC, Scherer SW, Saheki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10369257", "url": "https://glygen.org/publication/PubMed/10369257" } ] }, { "title": "Organization and sequence of the gene for the human mitochondrial dicarboxylate carrier: evolution of the carrier family.", "journal": "The Biochemical journal", "date": "1999", "authors": "Fiermonte G, Dolce V, Arrigoni R, Runswick MJ, Walker JE, Palmieri F", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10585886", "url": "https://glygen.org/publication/PubMed/10585886" } ] }, { "title": "Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues.", "journal": "The Biochemical journal", "date": "2000", "authors": "Del Arco A, Agudo M, Satrustegui J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10642534", "url": "https://glygen.org/publication/PubMed/10642534" } ] }, { "title": "Human glyceraldehyde 3-phosphate dehydrogenase-2 gene is expressed specifically in spermatogenic cells.", "journal": "Journal of andrology", "date": "2000", "authors": "Welch JE, Brown PL, O'Brien DA, Magyar PL, Bunch DO, Mori C, Eddy EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "10714828", "url": "https://glygen.org/publication/PubMed/10714828" } ] }, { "title": "The crystal structure of human phosphoglucose isomerase at 1.6 A resolution: implications for catalytic mechanism, cytokine activity and haemolytic anaemia.", "journal": "Journal of molecular biology", "date": "2001", "authors": "Read J, Pearce J, Li X, Muirhead H, Chirgwin J, Davies C", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "11371164", "url": "https://glygen.org/publication/PubMed/11371164" } ] }, { "title": "Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.", "journal": "Annals of neurology", "date": "2001", "authors": "Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri L, Torrente Y, Scarlato G, Bresolin N", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11506403", "url": "https://glygen.org/publication/PubMed/11506403" } ] }, { "title": "Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria.", "journal": "The EMBO journal", "date": "2001", "authors": "Palmieri L, Pardo B, Lasorsa FM, del Arco A, Kobayashi K, Iijima M, Runswick MJ, Walker JE, Saheki T, Satrustegui J, Palmieri F", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11566871", "url": "https://glygen.org/publication/PubMed/11566871" } ] }, { "title": "GLUT2 in pancreatic and extra-pancreatic gluco-detection (review).", "journal": "Molecular membrane biology", "date": "2001", "authors": "Thorens B", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "11780755", "url": "https://glygen.org/publication/PubMed/11780755" } ] }, { "title": "Crystal structure of human cytosolic phosphoenolpyruvate carboxykinase reveals a new GTP-binding site.", "journal": "Journal of molecular biology", "date": "2002", "authors": "Dunten P, Belunis C, Crowther R, Hollfelder K, Kammlott U, Levin W, Michel H, Ramsey GB, Swain A, Weber D, Wertheimer SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11851336", "url": "https://glygen.org/publication/PubMed/11851336" } ] }, { "title": "Transport of phosphoenolpyruvate by the tricarboxylate transporting system in mammalian mitochondria.", "journal": "FEBS letters", "date": "1971", "authors": "Robinson BH", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11945784", "url": "https://glygen.org/publication/PubMed/11945784" } ] }, { "title": "Effects of synthetic analogues of phosphoenolpyruvate on muscle and liver pyruvate kinase, muscle enolase, liver phosphoenolpyruvate carboxykinase and on the intra-/extra-mitochondrial tricarboxylic acid carrier transport system.", "journal": "FEBS letters", "date": "1971", "authors": "Soling HD, Walter U, Sauer H, Kleineke J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11946196", "url": "https://glygen.org/publication/PubMed/11946196" } ] }, { "title": "The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Ghosh A, Shieh JJ, Pan CJ, Sun MS, Chou JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "12093795", "url": "https://glygen.org/publication/PubMed/12093795" } ] }, { "title": "Expression and characterization of a human pyruvate carboxylase variant by retroviral gene transfer.", "journal": "The Biochemical journal", "date": "2003", "authors": "Carbone MA, Robinson BH", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "12437512", "url": "https://glygen.org/publication/PubMed/12437512" } ] }, { "title": "Relationship of phosphoenolpyruvate transport, acyl coenzyme A inhibition of adenine nucleotide translocase and calcium ion efflux in guinea pig heart mitochondria.", "journal": "Archives of biochemistry and biophysics", "date": "1976", "authors": "Sul HS, Shrago E, Shug AL", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "1252077", "url": "https://glygen.org/publication/PubMed/1252077" } ] }, { "title": "Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency.", "journal": "Metabolic brain disease", "date": "2002", "authors": "Saheki T, Kobayashi K, Iijima M, Nishi I, Yasuda T, Yamaguchi N, Gao HZ, Jalil MA, Begum L, Li MX", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "12602510", "url": "https://glygen.org/publication/PubMed/12602510" } ] }, { "title": "Cloning and functional characterization of GNPI2, a novel human homolog of glucosamine-6-phosphate isomerase/oscillin.", "journal": "Journal of cellular biochemistry", "date": "2003", "authors": "Zhang J, Zhang W, Zou D, Chen G, Wan T, Li N, Cao X", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "12616532", "url": "https://glygen.org/publication/PubMed/12616532" } ] }, { "title": "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.", "journal": "Nat. Biotechnol.", "date": "2003", "authors": "Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "reference": [ { "type": "PubMed", "id": "12665801", "url": "https://glygen.org/publication/PubMed/12665801" } ] }, { "title": "Characterization of phosphoglycerate kinase from human spermatozoa.", "journal": "Fertility and sterility", "date": "1976", "authors": "Chen SH, Donahue RP, Scott CR", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "1278465", "url": "https://glygen.org/publication/PubMed/1278465" } ] }, { "title": "Two mammalian glucosamine-6-phosphate deaminases: a structural and genetic study.", "journal": "FEBS letters", "date": "2003", "authors": "Arreola R, Valderrama B, Morante ML, Horjales E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "12965206", "url": "https://glygen.org/publication/PubMed/12965206" } ] }, { "title": "Identification and characterisation of a new human glucose-6-phosphatase isoform.", "journal": "FEBS letters", "date": "2003", "authors": "Guionie O, Clottes E, Stafford K, Burchell A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "12965222", "url": "https://glygen.org/publication/PubMed/12965222" } ] }, { "title": "Identification of transglutaminase substrates in HT29 colon cancer cells: use of 5-(biotinamido)pentylamine as a transglutaminase-specific probe.", "journal": "Biochim. Biophys. Acta", "date": "1992", "authors": "Lee K N, Maxwell M D, Patterson M K, Birckbichler P J, Conway E", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "reference": [ { "type": "PubMed", "id": "1353685", "url": "https://glygen.org/publication/PubMed/1353685" } ] }, { "title": "Enzymes of the human erythrocyte. IV. Phosphoglucose isomerase, purification and properties.", "journal": "The Journal of biological chemistry", "date": "1958", "authors": "TSUBOI KK, ESTRADA J, HUDSON PB", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "13538944", "url": "https://glygen.org/publication/PubMed/13538944" } ] }, { "title": "Isolation of dense granules from human platelets.", "journal": "Methods in enzymology", "date": "1992", "authors": "Fukami MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "1435334", "url": "https://glygen.org/publication/PubMed/1435334" } ] }, { "title": "Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase, ALDOA(Arg303X/Cys338Tyr).", "journal": "Blood", "date": "2004", "authors": "Yao DC, Tolan DR, Murray MF, Harris DJ, Darras BT, Geva A, Neufeld EJ", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "reference": [ { "type": "PubMed", "id": "14615364", "url": "https://glygen.org/publication/PubMed/14615364" } ] }, { "title": "Characterization of the proteins released from activated platelets leads to localization of novel platelet proteins in human atherosclerotic lesions.", "journal": "Blood", "date": "2004", "authors": "Coppinger JA, Cagney G, Toomey S, Kislinger T, Belton O, McRedmond JP, Cahill DJ, Emili A, Fitzgerald DJ, Maguire PB", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "14630798", "url": "https://glygen.org/publication/PubMed/14630798" } ] }, { "title": "Proteomic characterization of the human centrosome by protein correlation profiling.", "journal": "Nature", "date": "2003", "authors": "Andersen Jens S, Wilkinson Christopher J, Mayor Thibault, Mortensen Peter, Nigg Erich A, Mann Matthias", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "reference": [ { "type": "PubMed", "id": "14654843", "url": "https://glygen.org/publication/PubMed/14654843" } ] }, { "title": "Histidine 167 is the phosphate acceptor in glucose-6-phosphatase-beta forming a phosphohistidine enzyme intermediate during catalysis.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Ghosh A, Shieh JJ, Pan CJ, Chou JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "14718531", "url": "https://glygen.org/publication/PubMed/14718531" } ] }, { "title": "Enzymatic characterization of the pancreatic islet-specific glucose-6-phosphatase-related protein (IGRP).", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Petrolonis AJ, Yang Q, Tummino PJ, Fish SM, Prack AE, Jain S, Parsons TF, Li P, Dales NA, Ge L, Langston SP, Schuller AG, An WF, Tartaglia LA, Chen H, Hong SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "14722102", "url": "https://glygen.org/publication/PubMed/14722102" } ] }, { "title": "Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function.", "journal": "The Biochemical journal", "date": "2004", "authors": "Esposito G, Vitagliano L, Costanzo P, Borrelli L, Barone R, Pavone L, Izzo P, Zagari A, Salvatore F", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "reference": [ { "type": "PubMed", "id": "14766013", "url": "https://glygen.org/publication/PubMed/14766013" } ] }, { "title": "Identification of O-linked N-acetylglucosamine proteins in rat skeletal muscle using two-dimensional gel electrophoresis and mass spectrometry.", "journal": "Molecular & cellular proteomics : MCP", "date": "2004", "authors": "Cieniewski-Bernard C, Bastide B, Lefebvre T, Lemoine J, Mounier Y, Michalski JC", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04075", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04075" } ], "reference": [ { "type": "PubMed", "id": "14985449", "url": "https://glygen.org/publication/PubMed/14985449" } ] }, { "title": "The nucleotide transporter MRP4 (ABCC4) is highly expressed in human platelets and present in dense granules, indicating a role in mediator storage.", "journal": "Blood", "date": "2004", "authors": "Jedlitschky G, Tirschmann K, Lubenow LE, Nieuwenhuis HK, Akkerman JW, Greinacher A, Kroemer HK", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "15297306", "url": "https://glygen.org/publication/PubMed/15297306" } ] }, { "title": "Developmental regulation and cellular distribution of human cytosolic malate dehydrogenase (MDH1).", "journal": "Journal of cellular biochemistry", "date": "2005", "authors": "Lo AS, Liew CT, Ngai SM, Tsui SK, Fung KP, Lee CY, Waye MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "15565635", "url": "https://glygen.org/publication/PubMed/15565635" } ] }, { "title": "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.", "journal": "Nature biotechnology", "date": "2005", "authors": "Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "P04075-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075-1" } ], "reference": [ { "type": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ] }, { "title": "Phosphoglycerate mutase BB isoenzyme deficiency in a patient with non-spherocytic anemia: familial and metabolic studies.", "journal": "Haematologica", "date": "2005", "authors": "Repiso A, Ramirez Bajo MJ, Corrons JL, Carreras J, Climent F", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "15710582", "url": "https://glygen.org/publication/PubMed/15710582" } ] }, { "title": "Global phosphoproteome analysis on human HepG2 hepatocytes using reversed-phase diagonal LC.", "journal": "Proteomics", "date": "2005", "authors": "Gevaert K, Staes A, Van Damme J, De Groot S, Hugelier K, Demol H, Martens L, Goethals M, Vandekerckhove J", "evidence": [ { "database": "iPTMnet", "id": "P04075", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075" } ], "reference": [ { "type": "PubMed", "id": "16097034", "url": "https://glygen.org/publication/PubMed/16097034" } ] }, { "title": "Global identification of O-GlcNAc-modified proteins.", "journal": "Analytical chemistry", "date": "2006", "authors": "Nandi A, Sprung R, Barma DK, Zhao Y, Kim SC, Falck JR, Zhao Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04075", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04075" } ], "reference": [ { "type": "PubMed", "id": "16408927", "url": "https://glygen.org/publication/PubMed/16408927" } ] }, { "title": "Structure of a high-resolution crystal form of human triosephosphate isomerase: improvement of crystals using the gel-tube method.", "journal": "Acta crystallographica. Section F, Structural biology and crystallization communications", "date": "2005", "authors": "Kinoshita T, Maruki R, Warizaya M, Nakajima H, Nishimura S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "16511037", "url": "https://glygen.org/publication/PubMed/16511037" } ] }, { "title": "An NADH-tetrazolium-coupled sensitive assay for malate dehydrogenase in mitochondria and crude tissue homogenates.", "journal": "Journal of biochemical and biophysical methods", "date": "2006", "authors": "Luo C, Wang X, Long J, Liu J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "16740313", "url": "https://glygen.org/publication/PubMed/16740313" } ] }, { "title": "Porphyrin accumulation in mitochondria is mediated by 2-oxoglutarate carrier.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Kabe Y, Ohmori M, Shinouchi K, Tsuboi Y, Hirao S, Azuma M, Watanabe H, Okura I, Handa H", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "16920706", "url": "https://glygen.org/publication/PubMed/16920706" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" }, { "database": "iPTMnet", "id": "P04075-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Molina H, Horn DM, Tang N, Mathivanan S, Pandey A", "evidence": [ { "database": "iPTMnet", "id": "P04075-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075-1" } ], "reference": [ { "type": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" } ] }, { "title": "Phosphopeptide enrichment by aliphatic hydroxy acid-modified metal oxide chromatography for nano-LC-MS/MS in proteomics applications.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Sugiyama N, Masuda T, Shinoda K, Nakamura A, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "P04075-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075-1" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] }, { "title": "Molecular identification of mammalian phosphopentomutase and glucose-1,6-bisphosphate synthase, two members of the alpha-D-phosphohexomutase family.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Maliekal P, Sokolova T, Vertommen D, Veiga-da-Cunha M, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "17804405", "url": "https://glygen.org/publication/PubMed/17804405" } ] }, { "title": "Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.", "journal": "Cell", "date": "2007", "authors": "Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "P04075-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075-1" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] }, { "title": "Evolutionary conserved N-terminal region of human muscle fructose 1,6-bisphosphatase regulates its activity and the interaction with aldolase.", "journal": "Proteins", "date": "2008", "authors": "Gizak A, Maciaszczyk E, Dzugaj A, Eschrich K, Rakus D", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "reference": [ { "type": "PubMed", "id": "18214967", "url": "https://glygen.org/publication/PubMed/18214967" } ] }, { "title": "The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2008", "authors": "Chen SY, Pan CJ, Nandigama K, Mansfield BC, Ambudkar SV, Chou JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "18337460", "url": "https://glygen.org/publication/PubMed/18337460" } ] }, { "title": "Isozymes of glyceraldehyde-3-phosphate dehydrogenase in man and other mammals.", "journal": "Annals of human genetics", "date": "1976", "authors": "Edwards YH, Clark P, Harris H", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "183598", "url": "https://glygen.org/publication/PubMed/183598" } ] }, { "title": "Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.", "journal": "Human mutation", "date": "2008", "authors": "Chou JY, Mansfield BC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "18449899", "url": "https://glygen.org/publication/PubMed/18449899" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "P04075-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Phosphoproteomic analysis of human brain by calcium phosphate precipitation and mass spectrometry.", "journal": "Journal of proteome research", "date": "2008", "authors": "Xia Q, Cheng D, Duong DM, Gearing M, Lah JJ, Levey AI, Peng J", "evidence": [ { "database": "iPTMnet", "id": "P04075-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075-1" } ], "reference": [ { "type": "PubMed", "id": "18510355", "url": "https://glygen.org/publication/PubMed/18510355" } ] }, { "title": "Structure, mechanism and regulation of pyruvate carboxylase.", "journal": "The Biochemical journal", "date": "2008", "authors": "Jitrapakdee S, St Maurice M, Rayment I, Cleland WW, Wallace JC, Attwood PV", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "18613815", "url": "https://glygen.org/publication/PubMed/18613815" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "P04075-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Characterization of the human cerebrospinal fluid phosphoproteome by titanium dioxide affinity chromatography and mass spectrometry.", "journal": "Analytical chemistry", "date": "2008", "authors": "Bahl JM, Jensen SS, Larsen MR, Heegaard NH", "evidence": [ { "database": "iPTMnet", "id": "P04075-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075-1" } ], "reference": [ { "type": "PubMed", "id": "18702456", "url": "https://glygen.org/publication/PubMed/18702456" } ] }, { "title": "Human liver glucokinase gene: cloning and sequence determination of two alternatively spliced cDNAs.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1991", "authors": "Tanizawa Y, Koranyi LI, Welling CM, Permutt MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "1871135", "url": "https://glygen.org/publication/PubMed/1871135" } ] }, { "title": "Successive and selective release of phosphorylated peptides captured by hydroxy acid-modified metal oxide chromatography.", "journal": "Journal of proteome research", "date": "2008", "authors": "Kyono Y, Sugiyama N, Imami K, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "P04075-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075-1" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] }, { "title": "Crystalline d-glyceraldehyde-3-phosphate dehydrogenase from rabbit muscle.", "journal": "The Journal of biological chemistry", "date": "1948", "authors": "CORI GT, SLEIN MW, CORI CF", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "18910716", "url": "https://glygen.org/publication/PubMed/18910716" } ] }, { "title": "The prosthetic group of crystalline d-glyceraldehyde-3-phosphate dehydrogenase.", "journal": "The Journal of biological chemistry", "date": "1948", "authors": "TAYLOR JF, VELICK SF, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "18910717", "url": "https://glygen.org/publication/PubMed/18910717" } ] }, { "title": "Mammalian phosphomannomutase PMM1 is the brain IMP-sensitive glucose-1,6-bisphosphatase.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Veiga-da-Cunha M, Vleugels W, Maliekal P, Matthijs G, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "18927083", "url": "https://glygen.org/publication/PubMed/18927083" } ] }, { "title": "A syndrome with congenital neutropenia and mutations in G6PC3.", "journal": "The New England journal of medicine", "date": "2009", "authors": "Boztug K, Appaswamy G, Ashikov A, Schaffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanne-Chantelot C, Rezaei N, Monkemoller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "19118303", "url": "https://glygen.org/publication/PubMed/19118303" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "P04075-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P04075-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "P04075-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075-1" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" }, { "database": "iPTMnet", "id": "P04075", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "An additional promoter functions in the human aldolase A gene, but not in rat.", "journal": "Eur. J. Biochem.", "date": "1991", "authors": "Mukai T, Arai Y, Yatsuki H, Joh K, Hori K", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "reference": [ { "type": "PubMed", "id": "1999195", "url": "https://glygen.org/publication/PubMed/1999195" } ] }, { "title": "Exploring the human leukocyte phosphoproteome using a microfluidic reversed-phase-TiO2-reversed-phase high-performance liquid chromatography phosphochip coupled to a quadrupole time-of-flight mass spectrometer.", "journal": "Analytical chemistry", "date": "2010", "authors": "Raijmakers R, Kraiczek K, de Jong AP, Mohammed S, Heck AJ", "evidence": [ { "database": "iPTMnet", "id": "P04075-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075-1" } ], "reference": [ { "type": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" }, { "database": "iPTMnet", "id": "P04075-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "P04075-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "title": "Glycopeptide-specific monoclonal antibodies suggest new roles for O-GlcNAc.", "journal": "Nature chemical biology", "date": "2010", "authors": "Teo CF, Ingale S, Wolfert MA, Elsayed GA, Not LG, Chatham JC, Wells L, Boons GJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04075", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04075" } ], "reference": [ { "type": "PubMed", "id": "20305658", "url": "https://glygen.org/publication/PubMed/20305658" } ] }, { "title": "Activity and specificity of human aldolases.", "journal": "J. Mol. Biol.", "date": "1991", "authors": "Gamblin S J, Davies G J, Grimes J M, Jackson R M, Littlechild J A, Watson H C", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "reference": [ { "type": "PubMed", "id": "2056525", "url": "https://glygen.org/publication/PubMed/2056525" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" }, { "database": "iPTMnet", "id": "P04075", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "The first identification of lysine malonylation substrates and its regulatory enzyme.", "journal": "Molecular & cellular proteomics : MCP", "date": "2011", "authors": "Peng C, Lu Z, Xie Z, Cheng Z, Chen Y, Tan M, Luo H, Zhang Y, He W, Yang K, Zwaans BM, Tishkoff D, Ho L, Lombard D, He TC, Dai J, Verdin E, Ye Y, Zhao Y", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "reference": [ { "type": "PubMed", "id": "21908771", "url": "https://glygen.org/publication/PubMed/21908771" } ] }, { "title": "SLC37A1 and SLC37A2 are phosphate-linked, glucose-6-phosphate antiporters.", "journal": "PloS one", "date": "2011", "authors": "Pan CJ, Chen SY, Jun HS, Lin SR, Mansfield BC, Chou JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "21949678", "url": "https://glygen.org/publication/PubMed/21949678" } ] }, { "title": "Expression and role in glycolysis of human ADP-dependent glucokinase.", "journal": "Molecular and cellular biochemistry", "date": "2012", "authors": "Richter S, Richter JP, Mehta SY, Gribble AM, Sutherland-Smith AJ, Stowell KM, Print CG, Ronimus RS, Wilson WR", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "22219026", "url": "https://glygen.org/publication/PubMed/22219026" } ] }, { "title": "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.", "journal": "Mol. Cell. Proteomics", "date": "2012", "authors": "Bienvenut WV, Sumpton D, Martinez A, Lilla S, Espagne C, Meinnel T, Giglione C", "evidence": [ { "database": "UniProtKB", "id": "H3BQN4", "url": "https://www.uniprot.org/uniprot/H3BQN4" } ], "reference": [ { "type": "PubMed", "id": "22223895", "url": "https://glygen.org/publication/PubMed/22223895" } ] }, { "title": "Human aldolase A of a hemolytic anemia patient with Asp-128----Gly substitution: characteristics of an enzyme generated in E. coli transfected with the expression plasmid pHAAD128G.", "journal": "Journal of biochemistry", "date": "1990", "authors": "Takasaki Y, Takahashi I, Mukai T, Hori K", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "reference": [ { "type": "PubMed", "id": "2229018", "url": "https://glygen.org/publication/PubMed/2229018" } ] }, { "title": "The amino acid sequence of cytosolic aspartate aminotransferase from human liver.", "journal": "The Biochemical journal", "date": "1990", "authors": "Doyle JM, Schinina ME, Bossa F, Doonan S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "2241899", "url": "https://glygen.org/publication/PubMed/2241899" } ] }, { "title": "Resveratrol-induced changes of the human adipocyte secretion profile.", "journal": "J. Proteome Res.", "date": "2012", "authors": "Rosenow Anja, Noben Jean-Paul, Jocken Johan, Kallendrusch Sonja, Fischer-Posovszky Pamela, Mariman Edwin C M, Renes Johan", "evidence": [ { "database": "UniProtKB", "id": "H3BQN4", "url": "https://www.uniprot.org/uniprot/H3BQN4" } ], "reference": [ { "type": "PubMed", "id": "22905912", "url": "https://glygen.org/publication/PubMed/22905912" } ] }, { "title": "T cell activation is driven by an ADP-dependent glucokinase linking enhanced glycolysis with mitochondrial reactive oxygen species generation.", "journal": "Cell reports", "date": "2012", "authors": "Kaminski MM, Sauer SW, Kaminski M, Opp S, Ruppert T, Grigaravicius P, Grudnik P, Grone HJ, Krammer PH, Gulow K", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "23168256", "url": "https://glygen.org/publication/PubMed/23168256" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" }, { "database": "iPTMnet", "id": "P04075", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "The crystal structure of human muscle aldolase at 3.0-A resolution.", "journal": "FEBS Lett.", "date": "1990", "authors": "Gamblin S J, Cooper B, Millar J R, Davies G J, Littlechild J A, Watson H C", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "reference": [ { "type": "PubMed", "id": "2335208", "url": "https://glygen.org/publication/PubMed/2335208" } ] }, { "title": "Disruption of a spermatogenic cell-specific mouse enolase 4 (eno4) gene causes sperm structural defects and male infertility.", "journal": "Biology of reproduction", "date": "2013", "authors": "Nakamura N, Dai Q, Williams J, Goulding EH, Willis WD, Brown PR, Eddy EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "23446454", "url": "https://glygen.org/publication/PubMed/23446454" } ] }, { "title": "The SLC37 family of phosphate-linked sugar phosphate antiporters.", "journal": "Molecular aspects of medicine", "date": "2013", "authors": "Chou JY, Sik Jun H, Mansfield BC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "23506893", "url": "https://glygen.org/publication/PubMed/23506893" } ] }, { "title": "High precision platelet releasate definition by quantitative reversed protein profiling--brief report.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2013", "authors": "Wijten P, van Holten T, Woo LL, Bleijerveld OB, Roest M, Heck AJ, Scholten A", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "23640497", "url": "https://glygen.org/publication/PubMed/23640497" } ] }, { "title": "Proteome profiling of human neutrophil granule subsets, secretory vesicles, and cell membrane: correlation with transcriptome profiling of neutrophil precursors.", "journal": "Journal of leukocyte biology", "date": "2013", "authors": "Rorvig S, Ostergaard O, Heegaard NH, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "23650620", "url": "https://glygen.org/publication/PubMed/23650620" } ] }, { "title": "Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.", "journal": "Mol. Cell. Proteomics", "date": "2014", "authors": "Guo A, Gu H, Zhou J, Mulhern D, Wang Y, Lee KA, Yang V, Aguiar M, Kornhauser J, Jia X, Ren J, Beausoleil SA, Silva JC, Vemulapalli V, Bedford MT, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "H3BQN4", "url": "https://www.uniprot.org/uniprot/H3BQN4" } ], "reference": [ { "type": "PubMed", "id": "24129315", "url": "https://glygen.org/publication/PubMed/24129315" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" }, { "database": "iPTMnet", "id": "P04075", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04075" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Tau-crystallin/alpha-enolase: one gene encodes both an enzyme and a lens structural protein.", "journal": "The Journal of cell biology", "date": "1988", "authors": "Wistow GJ, Lietman T, Williams LA, Stapel SO, de Jong WW, Horwitz J, Piatigorsky J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "2462567", "url": "https://glygen.org/publication/PubMed/2462567" } ] }, { "title": "Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2014", "authors": "Impens F, Radoshevich L, Cossart P, Ribet D", "evidence": [ { "database": "UniProtKB", "id": "H3BQN4", "url": "https://www.uniprot.org/uniprot/H3BQN4" } ], "reference": [ { "type": "PubMed", "id": "25114211", "url": "https://glygen.org/publication/PubMed/25114211" } ] }, { "title": "Coordinated regulatory variation associated with gestational hyperglycaemia regulates expression of the novel hexokinase HKDC1.", "journal": "Nature communications", "date": "2015-02-04", "authors": "Guo Cong, Ludvik Anton E, Arlotto Michelle E, Hayes M Geoffrey, Armstrong Loren L, Scholtens Denise M, Brown Christopher D, Newgard Christopher B, Becker Thomas C, Layden Brian T, Lowe William L, Reddy Timothy E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "25648650", "url": "https://glygen.org/publication/PubMed/25648650" } ] }, { "title": "Identification of a mammalian glycerol-3-phosphate phosphatase: Role in metabolism and signaling in pancreatic beta-cells and hepatocytes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2016", "authors": "Mugabo Y, Zhao S, Seifried A, Gezzar S, Al-Mass A, Zhang D, Lamontagne J, Attane C, Poursharifi P, Iglesias J, Joly E, Peyot ML, Gohla A, Madiraju SR, Prentki M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "26755581", "url": "https://glygen.org/publication/PubMed/26755581" } ] }, { "title": "Refined crystal structure of cytoplasmic malate dehydrogenase at 2.5-A resolution.", "journal": "Biochemistry", "date": "1989", "authors": "Birktoft JJ, Rhodes G, Banaszak LJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "2775751", "url": "https://glygen.org/publication/PubMed/2775751" } ] }, { "title": "Members of the human glyceraldehyde-3-phosphate dehydrogenase-related gene family map to dispersed chromosomal locations.", "journal": "Genomics", "date": "1989", "authors": "Benham FJ, Povey S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "2793178", "url": "https://glygen.org/publication/PubMed/2793178" } ] }, { "title": "Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1987", "authors": "Kishi H, Mukai T, Hirono A, Fujii H, Miwa S, Hori K", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "reference": [ { "type": "PubMed", "id": "2825199", "url": "https://glygen.org/publication/PubMed/2825199" } ] }, { "title": "Sequence of the human erythrocyte phosphoglycerate mutase by microsequencer and mass spectrometry.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Blouquit Y, Calvin MC, Rosa R, Prome D, Prome JC, Pratbernou F, Cohen-Solal M, Rosa J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "2846554", "url": "https://glygen.org/publication/PubMed/2846554" } ] }, { "title": "Landscape of the regulatory elements for lysine 2-hydroxyisobutyrylation pathway.", "journal": "Cell research", "date": "2018", "authors": "Huang H, Luo Z, Qi S, Huang J, Xu P, Wang X, Gao L, Li F, Wang J, Zhao W, Gu W, Chen Z, Dai L, Dai J, Zhao Y", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "reference": [ { "type": "PubMed", "id": "29192674", "url": "https://glygen.org/publication/PubMed/29192674" } ] }, { "title": "SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.", "journal": "Human molecular genetics", "date": "2018", "authors": "Punzi G, Porcelli V, Ruggiu M, Hossain MF, Menga A, Scarcia P, Castegna A, Gorgoglione R, Pierri CL, Laera L, Lasorsa FM, Paradies E, Pisano I, Marobbio CMT, Lamantea E, Ghezzi D, Tiranti V, Giannattasio S, Donati MA, Guerrini R, Palmieri L, Palmieri F, De Grassi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "29211846", "url": "https://glygen.org/publication/PubMed/29211846" } ] }, { "title": "Characterization of the enzymatic defect in late-onset muscle phosphofructokinase deficiency. New subtype of glycogen storage disease type VII.", "journal": "The Journal of clinical investigation", "date": "1987", "authors": "Vora S, DiMauro S, Spear D, Harker D, Danon MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "2960695", "url": "https://glygen.org/publication/PubMed/2960695" } ] }, { "title": "p300-Mediated Lysine 2-Hydroxyisobutyrylation Regulates Glycolysis.", "journal": "Molecular cell", "date": "2018", "authors": "Huang H, Tang S, Ji M, Tang Z, Shimada M, Liu X, Qi S, Locasale JW, Roeder RG, Zhao Y, Li X", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "reference": [ { "type": "PubMed", "id": "29775581", "url": "https://glygen.org/publication/PubMed/29775581" } ] }, { "title": "A new human species of aldolase A mRNA from fibroblasts.", "journal": "Eur. J. Biochem.", "date": "1987", "authors": "Izzo P, Costanzo P, Lupo A, Rippa E, Borghese A M, Paolella G, Salvatore F", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "reference": [ { "type": "PubMed", "id": "3030757", "url": "https://glygen.org/publication/PubMed/3030757" } ] }, { "title": "Combinatorial regulation of hepatic cytoplasmic signaling and nuclear transcriptional events by the OGT/REV-ERBalpha complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Berthier A, Vinod M, Porez G, Steenackers A, Alexandre J, Yamakawa N, Gheeraert C, Ploton M, Marechal X, Dubois-Chevalier J, Hovasse A, Schaeffer-Reiss C, Cianferani S, Rolando C, Bray F, Duez H, Eeckhoute J, Lefebvre T, Staels B, Lefebvre P", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04075", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04075" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "Hepatic HKDC1 Expression Contributes to Liver Metabolism.", "journal": "Endocrinology", "date": "2019", "authors": "Pusec CM, De Jesus A, Khan MW, Terry AR, Ludvik AE, Xu K, Giancola N, Pervaiz H, Daviau Smith E, Ding X, Harrison S, Chandel NS, Becker TC, Hay N, Ardehali H, Cordoba-Chacon J, Layden BT", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "30517626", "url": "https://glygen.org/publication/PubMed/30517626" } ] }, { "title": "Biochemical and genetic identity of alpha-keto acid reductase and cytoplasmic malate dehydrogenase from human erythrocytes.", "journal": "Annals of human genetics", "date": "1988", "authors": "Friedrich CA, Ferrell RE, Siciliano MJ, Kitto GB", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "3052244", "url": "https://glygen.org/publication/PubMed/3052244" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04075", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04075" }, { "database": "O-GlcNAc Atlas", "id": "P04075", "url": "https://oglcnac.org/atlas/detail/P04075" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.", "journal": "American journal of human genetics", "date": "2019", "authors": "van Karnebeek CDM, Ramos RJ, Wen XY, Tarailo-Graovac M, Gleeson JG, Skrypnyk C, Brand-Arzamendi K, Karbassi F, Issa MY, van der Lee R, Drogemoller BI, Koster J, Rousseau J, Campeau PM, Wang Y, Cao F, Li M, Ruiter J, Ciapaite J, Kluijtmans LAJ, Willemsen MAAP, Jans JJ, Ross CJ, Wintjes LT, Rodenburg RJ, Huigen MCDG, Jia Z, Waterham HR, Wasserman WW, Wanders RJA, Verhoeven-Duif NM, Zaki MS, Wevers RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "31422819", "url": "https://glygen.org/publication/PubMed/31422819" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04075", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04075" }, { "database": "O-GlcNAc Atlas", "id": "P04075", "url": "https://oglcnac.org/atlas/detail/P04075" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Isolation and complete sequence of a functional human glyceraldehyde-3-phosphate dehydrogenase gene.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Ercolani L, Florence B, Denaro M, Alexander M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "3170585", "url": "https://glygen.org/publication/PubMed/3170585" } ] }, { "title": "Complete amino acid sequence of the neurone-specific gamma isozyme of enolase (NSE) from human brain and comparison with the non-neuronal alpha form (NNE).", "journal": "European journal of biochemistry", "date": "1988", "authors": "McAleese SM, Dunbar B, Fothergill JE, Hinks LJ, Day IN", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "3208766", "url": "https://glygen.org/publication/PubMed/3208766" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04075", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04075" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "Methods for Enrichment and Assignment of N-Acetylglucosamine Modification Sites.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Maynard JC, Chalkley RJ", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "P04075", "url": "https://oglcnac.org/atlas/detail/P04075" } ], "reference": [ { "type": "PubMed", "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04075", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04075" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "The complete amino acid sequence of human skeletal-muscle fructose-bisphosphate aldolase.", "journal": "Biochem. J.", "date": "1988", "authors": "Freemont PS, Dunbar B, Fothergill-Gilmore LA", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" }, { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "3355497", "url": "https://glygen.org/publication/PubMed/3355497" } ] }, { "title": "Human aldolase A gene. Structural organization and tissue-specific expression by multiple promoters and alternate mRNA processing.", "journal": "Eur. J. Biochem.", "date": "1988", "authors": "Izzo P, Costanzo P, Lupo A, Rippa E, Paolella G, Salvatore F", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "reference": [ { "type": "PubMed", "id": "3391172", "url": "https://glygen.org/publication/PubMed/3391172" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04075", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04075" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Phosphoenolpyruvate carboxykinase in cell metabolism: Roles and mechanisms beyond gluconeogenesis.", "journal": "Molecular metabolism", "date": "2021", "authors": "Yu S, Meng S, Xiang M, Ma H", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "34020084", "url": "https://glygen.org/publication/PubMed/34020084" } ] }, { "title": "Characterization of three optional promoters in the 5' region of the human aldolase A gene.", "journal": "J. Mol. Biol.", "date": "1987", "authors": "Maire P, Gautron S, Hakim V, Gregori C, Mennecier F, Kahn A", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "reference": [ { "type": "PubMed", "id": "3441006", "url": "https://glygen.org/publication/PubMed/3441006" } ] }, { "title": "PCK2 opposes mitochondrial respiration and maintains the redox balance in starved lung cancer cells.", "journal": "Free radical biology & medicine", "date": "2021", "authors": "Bluemel G, Planque M, Madreiter-Sokolowski CT, Haitzmann T, Hrzenjak A, Graier WF, Fendt SM, Olschewski H, Leithner K", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "34520823", "url": "https://glygen.org/publication/PubMed/34520823" } ] }, { "title": "Human testis-specific PGK gene lacks introns and possesses characteristics of a processed gene.", "journal": "Nature", "date": "1987", "authors": "McCarrey JR, Thomas K", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "3453121", "url": "https://glygen.org/publication/PubMed/3453121" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04075", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04075" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Hexokinase domain-containing protein-1 in metabolic diseases and beyond.", "journal": "Trends in endocrinology and metabolism: TEM", "date": "2022-01", "authors": "Zapater Joseph L, Lednovich Kristen R, Khan Md Wasim, Pusec Carolina M, Layden Brian T", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "34782236", "url": "https://glygen.org/publication/PubMed/34782236" } ] }, { "title": "O-GlcNAcylation promotes fatty acid synthase activity under nutritional stress as a pro-survival mechanism in cancer cells.", "journal": "Proteomics", "date": "2022", "authors": "Wong YK, Wang J, Lim TK, Lin Q, Yap CT, Shen HM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04075", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04075" } ], "reference": [ { "type": "PubMed", "id": "35083852", "url": "https://glygen.org/publication/PubMed/35083852" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04075", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04075" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04075", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04075" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04075", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04075" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Molecular cloning and nucleotide sequence of a full-length cDNA for human alpha enolase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1986", "authors": "Giallongo A, Feo S, Moore R, Croce CM, Showe LC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "3529090", "url": "https://glygen.org/publication/PubMed/3529090" } ] }, { "title": "Metabolic cycles and signals for insulin secretion.", "journal": "Cell metabolism", "date": "2022", "authors": "Merrins MJ, Corkey BE, Kibbey RG, Prentki M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "35728586", "url": "https://glygen.org/publication/PubMed/35728586" } ] }, { "title": "Evolutionary implications of the human aldolase-A, -B, -C, and - pseudogene chromosome locations.", "journal": "Am. J. Hum. Genet.", "date": "1987", "authors": "Tolan DR, Niclas J, Bruce BD, Lebo RV", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "reference": [ { "type": "PubMed", "id": "3674018", "url": "https://glygen.org/publication/PubMed/3674018" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04075", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04075" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Nucleotide sequence of a cDNA clone for human aldolase: a messenger RNA in the liver.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1985", "authors": "Sakakibara M, Mukai T, Hori K", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "reference": [ { "type": "PubMed", "id": "3840020", "url": "https://glygen.org/publication/PubMed/3840020" } ] }, { "title": "The primary structure of mitochondrial aspartate aminotransferase from human heart.", "journal": "Biochimica et biophysica acta", "date": "1985", "authors": "Martini F, Angelaccio S, Barra D, Pascarella S, Maras B, Doonan S, Bossa F", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "4052435", "url": "https://glygen.org/publication/PubMed/4052435" } ] }, { "title": "Enolase isoenzymes in rat tissues. Electrophoretic, chromatographic, immunological and kinetic properties.", "journal": "Biochimica et biophysica acta", "date": "1974", "authors": "Rider CC, Taylor CB", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "4413246", "url": "https://glygen.org/publication/PubMed/4413246" } ] }, { "title": "X-ray diffraction study of binding of 2,3-diphosphoglycerate to human deoxyhaemoglobin.", "journal": "Nature", "date": "1972", "authors": "Arnone A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "4555506", "url": "https://glygen.org/publication/PubMed/4555506" } ] }, { "title": "Mechanism of the exchanges catalysed by the oxoglutarate translocator of rat-heart mitochondria. Kinetics of the external-product inhibition.", "journal": "European journal of biochemistry", "date": "1973", "authors": "Sluse FE, Goffart G, Liebecq C", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "4687397", "url": "https://glygen.org/publication/PubMed/4687397" } ] }, { "title": "Inhibition of phosphoenolpyruvate transport via the tricarboxylate and adenine nucleotide carrier systems of rat liver mitochondria.", "journal": "Biochemical and biophysical research communications", "date": "1973", "authors": "Shug AL, Shrago E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "4716993", "url": "https://glygen.org/publication/PubMed/4716993" } ] }, { "title": "On the specificity of the tricarboxylate carrier system in rat liver mitochondria.", "journal": "FEBS letters", "date": "1973", "authors": "Kleineke J, Sauer H, Soling HD", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "4719206", "url": "https://glygen.org/publication/PubMed/4719206" } ] }, { "title": "Relationship between intracellular distribution of phosphoenolpyruvate carboxykinase, regulation of gluconeogenesis, and energy cost of glucose formation.", "journal": "European journal of biochemistry", "date": "1973", "authors": "Soling HD, Kleineke J, Willms B, Janson G, Kuhn A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "4745729", "url": "https://glygen.org/publication/PubMed/4745729" } ] }, { "title": "Phosphoglycerate mutase isozyme marker for tissue differentiation in man.", "journal": "American journal of human genetics", "date": "1974", "authors": "Omenn GS, Cheung SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "4827367", "url": "https://glygen.org/publication/PubMed/4827367" } ] }, { "title": "Human phosphoglycerate kinase. I. Crystallization and characterization of normal enzyme.", "journal": "The Journal of biological chemistry", "date": "1972", "authors": "Yoshida A, Watanabe S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "5009693", "url": "https://glygen.org/publication/PubMed/5009693" } ] }, { "title": "The purification and properties of diphosphoglycerate mutase from human erythrocytes.", "journal": "The Journal of biological chemistry", "date": "1968", "authors": "Rose ZB", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "5687724", "url": "https://glygen.org/publication/PubMed/5687724" } ] }, { "title": "Primary structure of human triosephosphate isomerase.", "journal": "The Journal of biological chemistry", "date": "1984", "authors": "Lu HS, Yuan PM, Gracy RW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "6434534", "url": "https://glygen.org/publication/PubMed/6434534" } ] }, { "title": "Isozymes of human phosphofructokinase: identification and subunit structural characterization of a new system.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1980", "authors": "Vora S, Seaman C, Durham S, Piomelli S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "6444721", "url": "https://glygen.org/publication/PubMed/6444721" } ] }, { "title": "Isozymes of human phosphofructokinase in blood cells and cultured cell lines: molecular and genetic evidence for a trigenic system.", "journal": "Blood", "date": "1981", "authors": "Vora S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "6451249", "url": "https://glygen.org/publication/PubMed/6451249" } ] }, { "title": "Characterization of the proteins of isolated human platelet alpha-granules. Evidence for a separate alpha-granule-pool of the glycoproteins IIb and IIIa.", "journal": "Biochimica et biophysica acta", "date": "1981", "authors": "Gogstad GO, Hagen I, Korsmo R, Solum NO", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "6457647", "url": "https://glygen.org/publication/PubMed/6457647" } ] }, { "title": "Human skeletal-muscle aldolase: N-terminal sequence analysis of CNBr- and o-iodosobenzoic acid-cleavage fragments.", "journal": "Arch. Biochem. Biophys.", "date": "1984", "authors": "Freemont PS, Dunbar B, Fothergill LA", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" }, { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "6696436", "url": "https://glygen.org/publication/PubMed/6696436" } ] }, { "title": "Complete amino acid sequence of human phosphoglycerate kinase. Isolation and amino acid sequence of tryptic peptides.", "journal": "The Journal of biological chemistry", "date": "1980", "authors": "Huang IY, Rubinfien E, Yoshida A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "6771269", "url": "https://glygen.org/publication/PubMed/6771269" } ] }, { "title": "Glyceraldehyde-3-phosphate dehydrogenase from human tissues.", "journal": "Methods in enzymology", "date": "1982", "authors": "Heinz F, Freimuller B", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "7144574", "url": "https://glygen.org/publication/PubMed/7144574" } ] }, { "title": "Compartmentation of hexokinase in human blood cells. Characterization of soluble and particulate enzymes.", "journal": "Biochimica et biophysica acta", "date": "1982", "authors": "Rijksen G, Staal GE, Beks PJ, Streefkerk M, Akkerman JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "7150652", "url": "https://glygen.org/publication/PubMed/7150652" } ] }, { "title": "Complete amino acid sequence of human phosphoglycerate kinase. Cyanogen bromide peptides and complete amino acid sequence.", "journal": "The Journal of biological chemistry", "date": "1980", "authors": "Huang IY, Welch CD, Yoshida A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "7391027", "url": "https://glygen.org/publication/PubMed/7391027" } ] }, { "title": "Citrate transport in liposomes reconstituted with triton extracts from mitochondria.", "journal": "Biochemical and biophysical research communications", "date": "1980", "authors": "Stipani I, Kramer R, Palmieri F, Klingenberg M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "7470147", "url": "https://glygen.org/publication/PubMed/7470147" } ] }, { "title": "Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.", "journal": "American journal of human genetics", "date": "1995", "authors": "Lei KJ, Chen YT, Chen H, Wong LJ, Liu JL, McConkie-Rosell A, Van Hove JL, Ou HC, Yeh NJ, Pan LY, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "7573034", "url": "https://glygen.org/publication/PubMed/7573034" } ] }, { "title": "Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance.", "journal": "American journal of human genetics", "date": "1995", "authors": "Ali M, Cox TM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "7717389", "url": "https://glygen.org/publication/PubMed/7717389" } ] }, { "title": "Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.", "journal": "American journal of human genetics", "date": "1995", "authors": "Raben N, Exelbert R, Spiegel R, Sherman JB, Nakajima H, Plotz P, Heinisch J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "7825568", "url": "https://glygen.org/publication/PubMed/7825568" } ] }, { "title": "The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia.", "journal": "The Journal of clinical investigation", "date": "1994", "authors": "Xu W, Beutler E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "7989588", "url": "https://glygen.org/publication/PubMed/7989588" } ] }, { "title": "Cloning of a complete protein-coding sequence of human platelet-type phosphofructokinase isozyme from pancreatic islet.", "journal": "Biochemical and biophysical research communications", "date": "1994", "authors": "Eto K, Sakura H, Yasuda K, Hayakawa T, Kawasaki E, Moriuchi R, Nagataki S, Yazaki Y, Kadowaki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "8117307", "url": "https://glygen.org/publication/PubMed/8117307" } ] }, { "title": "Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.", "journal": "Science (New York, N.Y.)", "date": "1993", "authors": "Lei KJ, Shelly LL, Pan CJ, Sidbury JB, Chou JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "8211187", "url": "https://glygen.org/publication/PubMed/8211187" } ] }, { "title": "Structure/function studies of human beta-cell glucokinase. Enzymatic properties of a sequence polymorphism, mutations associated with diabetes, and other site-directed mutants.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Takeda J, Gidh-Jain M, Xu LZ, Froguel P, Velho G, Vaxillaire M, Cohen D, Shimada F, Makino H, Nishi S, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "8325892", "url": "https://glygen.org/publication/PubMed/8325892" } ] }, { "title": "The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.", "journal": "American journal of human genetics", "date": "1993", "authors": "Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "8447317", "url": "https://glygen.org/publication/PubMed/8447317" } ] }, { "title": "Platelet alpha-granules.", "journal": "Blood reviews", "date": "1993", "authors": "Harrison P, Cramer EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "8467233", "url": "https://glygen.org/publication/PubMed/8467233" } ] }, { "title": "Molecular analysis of a series of alleles in humans with reduced activity at the triosephosphate isomerase locus.", "journal": "American journal of human genetics", "date": "1996", "authors": "Watanabe M, Zingg BC, Mohrenweiser HW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "8571957", "url": "https://glygen.org/publication/PubMed/8571957" } ] }, { "title": "The formation of a disulfide cross-link between the two subunits demonstrates the dimeric structure of the mitochondrial oxoglutarate carrier.", "journal": "Biochimica et biophysica acta", "date": "1996", "authors": "Bisaccia F, Zara V, Capobianco L, Iacobazzi V, Mazzeo M, Palmieri F", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "8597574", "url": "https://glygen.org/publication/PubMed/8597574" } ] }, { "title": "Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A.", "journal": "The New England journal of medicine", "date": "1996", "authors": "Kreuder J, Borkhardt A, Repp R, Pekrun A, Gottsche B, Gottschalk U, Reichmann H, Schachenmayr W, Schlegel K, Lampert F", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "reference": [ { "type": "PubMed", "id": "8598869", "url": "https://glygen.org/publication/PubMed/8598869" } ] }, { "title": "Molecular cloning, sequencing and expression of the cDNA of the mitochondrial form of phosphoenolpyruvate carboxykinase from human liver.", "journal": "The Biochemical journal", "date": "1996", "authors": "Modaressi S, Christ B, Bratke J, Zahn S, Heise T, Jungermann K", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "8645161", "url": "https://glygen.org/publication/PubMed/8645161" } ] }, { "title": "Targeting of proteins to granule subsets is determined by timing and not by sorting: The specific granule protein NGAL is localized to azurophil granules when expressed in HL-60 cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Le Cabec V, Cowland JB, Calafat J, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "8692836", "url": "https://glygen.org/publication/PubMed/8692836" } ] }, { "title": "Human hexokinase II gene: exon-intron organization, mutation screening in NIDDM, and its relationship to muscle hexokinase activity.", "journal": "Diabetologia", "date": "1995", "authors": "Lehto M, Huang X, Davis EM, Le Beau MM, Laurila E, Eriksson KF, Bell GI, Groop L", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "8786021", "url": "https://glygen.org/publication/PubMed/8786021" } ] }, { "title": "Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.", "journal": "American journal of human genetics", "date": "1997", "authors": "Kikawa Y, Inuzuka M, Jin BY, Kaji S, Koga J, Yamamoto Y, Fujisawa K, Hata I, Nakai A, Shigematsu Y, Mizunuma H, Taketo A, Mayumi M, Sudo M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9382095", "url": "https://glygen.org/publication/PubMed/9382095" } ] }, { "title": "Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.", "journal": "FEBS letters", "date": "1997", "authors": "Gerin I, Veiga-da-Cunha M, Achouri Y, Collet JF, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9428641", "url": "https://glygen.org/publication/PubMed/9428641" } ] }, { "title": "Molecularly cloned mammalian glucosamine-6-phosphate deaminase localizes to transporting epithelium and lacks oscillin activity.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "1998", "authors": "Wolosker H, Kline D, Bian Y, Blackshaw S, Cameron AM, Fralich TJ, Schnaar RL, Snyder SH", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "9438414", "url": "https://glygen.org/publication/PubMed/9438414" } ] }, { "title": "The mechanism of regulation of hexokinase: new insights from the crystal structure of recombinant human brain hexokinase complexed with glucose and glucose-6-phosphate.", "journal": "Structure (London, England : 1993)", "date": "1998", "authors": "Aleshin AE, Zeng C, Bourenkov GP, Bartunik HD, Fromm HJ, Honzatko RB", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "9493266", "url": "https://glygen.org/publication/PubMed/9493266" } ] }, { "title": "Human mitochondrial phosphoenolpyruvate carboxykinase 2 gene. Structure, chromosomal localization and tissue-specific expression.", "journal": "The Biochemical journal", "date": "1998", "authors": "Modaressi S, Brechtel K, Christ B, Jungermann K", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9657976", "url": "https://glygen.org/publication/PubMed/9657976" } ] }, { "title": "Isolation and characterization of an allelic cDNA for human muscle fructose-1,6-bisphosphatase.", "journal": "Gene", "date": "1998", "authors": "Tillmann H, Eschrich K", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9678974", "url": "https://glygen.org/publication/PubMed/9678974" } ] }, { "title": "A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.", "journal": "American journal of human genetics", "date": "1998", "authors": "Veiga-da-Cunha M, Gerin I, Chen YT, de Barsy T, de Lonlay P, Dionisi-Vici C, Fenske CD, Lee PJ, Leonard JV, Maire I, McConkie-Rosell A, Schweitzer S, Vikkula M, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9758626", "url": "https://glygen.org/publication/PubMed/9758626" } ] }, { "title": "Aggregation states of mitochondrial malate dehydrogenase.", "journal": "Protein science : a publication of the Protein Society", "date": "1998", "authors": "Sanchez SA, Hazlett TL, Brunet JE, Jameson DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9792106", "url": "https://glygen.org/publication/PubMed/9792106" } ] } ], "pathway": [ { "id": "hsa:226", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:226", "resource": "KEGG Pathway" }, { "id": "R-HSA-114608", "name": "Platelet degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608", "resource": "Reactome", "description": "Platelet degranulation" }, { "id": "R-HSA-6798695", "name": "Neutrophil degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "resource": "Reactome", "description": "Neutrophil degranulation" }, { "id": "R-HSA-70171", "name": "Glycolysis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171", "resource": "Reactome", "description": "Glycolysis" }, { "id": "R-HSA-70263", "name": "Gluconeogenesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263", "resource": "Reactome", "description": "Gluconeogenesis" } ], "orthologs": [ { "uniprot_canonical_ac": "P05064-1", "protein_name": "Fructose-bisphosphate aldolase A", "gene_name": "Aldoa", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPHPYPALTPEQKKELSDIAHRIVAPGKGILAADESTGSIAKRLQSIGTENTEENRRFYRQLLLTADDRVNPCIGGVILFHETLYQKADDGRPFPQVIKSKGGVVGIKVDKGVVPLAGTNGETTTQGLDGLSERCAQYKKDGADFAKWRCVLKIGEHTPSALAIMENANVLARYASICQQNGIVPIVEPEILPDGDHDLKRCQYVTEKVLAAVYKALSDHHVYLEGTLLKPNMVTPGHACTQKFSNEEIAMATVTALRRTVPPAVTGVTFLSGGQSEEEASINLNAINKCPLLKPWALTFSYGRALQASALKAWGGKKENLKAAQEEYIKRALANSLACQGKYTPSGQSGAAASESLFISNHAY", "length": 364 }, "evidence": [ { "id": "45924960", "url": "http://www.informatics.jax.org/homology/45924960", "database": "MGI" }, { "id": "P04075", "url": "https://omabrowser.org/oma/group/P04075/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P05065-1", "protein_name": "Fructose-bisphosphate aldolase A", "gene_name": "Aldoa", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MPHPYPALTPEQKKELADIAHRIVAPGKGILAADESTGSIAKRLQSIGTENTEENRRFYRQLLLTADDRVNPCIGGVILFHETLYQKADDGRPFPQVIKSKGGVVGIKVDKGVVPLAGTNGETTTQGLDGLSERCAQYKKDGADFAKWRCVLKIGEHTPSSLAIMENANVLARYASICQQNGIVPIVEPEILPDGDHDLKRCQYVTEKVLAAVYKALSDHHVYLEGTLLKPNMVTPGHACTQKFSNEEIAMATVTALRRTVPPAVPGVTFLSGGQSEEEASINLNAINKCPLLKPWALTFSYGRALQASALKAWGGKKENLKAAQEEYIKRALANSLACQGKYTPSGQSGAAASESLFISNHAY", "length": 364 }, "evidence": [ { "id": "45924960", "url": "http://www.informatics.jax.org/homology/45924960", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P07764-1", "protein_name": "Fructose-bisphosphate aldolase", "gene_name": "Ald1", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MTTYFNYPSKELQDELREIAQKIVAPGKGILAADESGPTMGKRLQDIGVENTEDNRRAYRQLLFSTDPKLAENISGVILFHETLYQKADDGTPFAEILKKKGIILGIKVDKGVVPLFGSEDEVTTQGLDDLAARCAQYKKDGCDFAKWRCVLKIGKNTPSYQSILENANVLARYASICQSQRIVPIVEPEVLPDGDHDLDRAQKVTETVLAAVYKALSDHHVYLEGTLLKPNMVTAGQSAKKNTPEEIALATVQALRRTVPAAVTGVTFLSGGQSEEEATVNLSAINNVPLIRPWALTFSYGRALQASVLRAWAGKKENIAAGQNELLKRAKANGDAAQGKYVAGSAGAGSGSLFVANHAY", "length": 361 }, "evidence": [ { "id": "P04075", "url": "https://omabrowser.org/oma/group/P04075/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 8, "go_terms": [ { "name": "fructose-bisphosphate aldolase activity", "id": "GO:0004332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004332", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "cadherin binding", "id": "GO:0045296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045296", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "cytoskeletal protein binding", "id": "GO:0008092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "tubulin binding", "id": "GO:0015631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015631", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "fructose binding", "id": "GO:0070061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070061", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 10, "go_terms": [ { "name": "glycolytic process", "id": "GO:0006096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006096", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "binding of sperm to zona pellucida", "id": "GO:0007339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007339", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "ATP biosynthetic process", "id": "GO:0006754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006754", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "fructose metabolic process", "id": "GO:0006000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006000", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "striated muscle contraction", "id": "GO:0006941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006941", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "fructose 1,6-bisphosphate metabolic process", "id": "GO:0030388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030388", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 14, "go_terms": [ { "name": "sperm head", "id": "GO:0061827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061827", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "platelet alpha granule lumen", "id": "GO:0031093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031093", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "secretory granule lumen", "id": "GO:0034774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034774", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "ficolin-1-rich granule lumen", "id": "GO:1904813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904813", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "tertiary granule lumen", "id": "GO:1904724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904724", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "I band", "id": "GO:0031674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031674", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" }, { "name": "M band", "id": "GO:0031430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031430", "evidence": [ { "database": "UniProtKB", "id": "P04075", "url": "https://www.uniprot.org/uniprot/P04075" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "14729", "name": "", "equation": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P09117-1", "P05065-1", "P00884-1", "Q6AY07-1", "A0A8I6ANB6-1", "P04075-1", "P09972-1", "P05062-1", "A6ZI46-1", "P05064-1", "P05063-1", "Q91Y97-1", "A6ZI47-1", "P14540-1", "Q86A67-1", "P07764-1" ], "evidence": [ { "id": "14729", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/14729" } ] }, { "id": "R-HSA-481007", "name": "Exocytosis of platelet alpha granule contents", "equation": "", "summary": "Alpha granules contain mainly polypeptides such as fibrinogen, von Willebrand factor, growth factors and protease inhibitors that supplement thrombin generation at the site of injury. In addtion to their role in hemostasis, platelets also contain angiogenesis stimulators and inhibitors (Italiano et al. 2008).", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00747-1", "P04075-1", "Q8NBM8-1", "Q8NBX0-1", "P00746-1", "P00488-1", "O00391-1" ], "evidence": [ { "id": "R-HSA-481007", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-481007" } ] }, { "id": "R-HSA-6798745", "name": "Exocytosis of tertiary granule lumen proteins", "equation": "", "summary": "Tertiary (gelatinase) granules are part of a continuum of peroxidase-negative granules formed in myelocytes, metamyelocytes, band cells and segmented neutrophils. They differ from secondary granules by having a low content of antimicrobial substances, and are more readily exocytosed (Sengelov et al. 1995). Tertiary granules are primarily a reservoir of extracellular matrix degrading enzymes and membrane receptors that are needed for neutrophil extravasation and diapedesis (Faurschou & Borregaard 2003).", "cellular_location": "extracellular region, tertiary granule lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P32320-1", "Q92820-1", "Q9NQR4-1", "P36871-1", "P07339-1", "P04075-1", "P09972-1", "Q13510-1", "Q8WVQ1-1", "P29350-1", "Q13231-1", "P14780-1", "Q16769-1", "P61626-1", "P02788-1", "P02794-1", "P98066-1", "P25774-1", "Q9H8H3-1", "P09960-1", "P35030-1", "O75874-1", "P22894-1", "O00391-1" ], "evidence": [ { "id": "R-HSA-6798745", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798745" } ] }, { "id": "R-HSA-6798748", "name": "Exocytosis of secretory granule lumen proteins", "equation": "", "summary": "Secretory vesicles provide a reservoir of secreted proteins and membrane-associated receptors that are required at the earliest stages of the neutrophil-mediated inflammatory response. They are mobilized in response to a wide variety of inflammatory stimuli (Sengelov et al. 1993a,b). Resultant cell surface changes allow the neutrophil to establish firm contact with activated vascular epithelium (Faurschou & Borregaard 2003).", "cellular_location": "extracellular region, secretory granule lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P18669-1", "Q13464-1", "P32320-1", "P09917-1", "O00487-1", "P13639-1", "P12268-1", "P62937-1", "Q96G03-1", "P68402-1", "Q99436-1", "P55072-1", "P68104-1", "P11142-1", "Q9Y315-1", "P13010-1", "P04075-1", "P09972-1", "P07900-1", "P09769-1", "P09211-1", "Q16539-1", "P14618-1", "P07741-1", "Q01432-1", "P12956-1", "Q7Z6Z7-1", "Q9UNP9-1", "P14174-1", "P04040-1", "O00571-1", "P06744-1", "P52790-1", "P11678-1", "P00491-1", "P06737-1", "P00746-1", "Q13162-1", "P17858-1", "P46976-1", "P22392-1", "P13716-1", "O75874-1", "P20839-1", "O00764-1" ], "evidence": [ { "id": "R-HSA-6798748", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798748" } ] }, { "id": "R-HSA-6800434", "name": "Exocytosis of ficolin-rich granule lumen proteins", "equation": "", "summary": "Ficoli-1 rich granules are a relatively new fourth neutrophil granule population that is enriched in the microbial lectin ficolin-1. Ficolin-1 is present in tertiary granules, but ficolin-1 rich granules can be differentiated by having low levels of gelatinases and an elevated exocytosis propensity (Rorvig et al. 2009, 2013). The importance of these granules may be to provide rapid release of pattern recognition molecules to activate the lectin complement pathway (Rorvig et al. 2009).", "cellular_location": "extracellular region, ficolin-1-rich granule lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9UBR2-1", "P18669-1", "P32320-1", "P09917-1", "O00487-1", "P13639-1", "P12268-1", "P62937-1", "P15586-1", "Q96G03-1", "Q9P0J7-1", "P68402-1", "P36871-1", "Q99436-1", "P07339-1", "P13798-1", "P53396-1", "P55072-1", "P68104-1", "P11142-1", "Q9Y315-1", "P04075-1", "P09972-1", "P07900-1", "P09211-1", "Q16539-1", "P07858-1", "P14618-1", "P28482-1", "Q01432-1", "P12956-1", "Q7Z6Z7-1", "Q9UNP9-1", "Q13510-1", "P14174-1", "P15848-1", "P16278-1", "Q8WVQ1-1", "P04040-1", "O00571-1", "P14780-1", "P06744-1", "P52790-1", "P00491-1", "P06737-1", "Q16769-1", "P08236-1", "P02794-1", "P07384-1", "Q14004-1", "P00746-1", "P98066-1", "P25774-1", "Q13162-1", "P17858-1", "P46976-1", "P09960-1", "P22392-1", "P13716-1", "O75874-1", "P20839-1" ], "evidence": [ { "id": "R-HSA-6800434", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6800434" } ] }, { "id": "R-HSA-71495", "name": "Aldolase tetramers convert GA3P and DHAP to F1,6PP", "equation": "", "summary": "In this freely reversible cytosolic reaction, DHAP (dihydroxyacetone phosphate) and GA3P (D-glyceraldehyde 3-phosphate) react to form F1,6PP (D-fructose 1,6-bisphosphate). The active form of aldolase, the enzyme that catalyzes the reaction, is a homotetramer. Three aldolase isozymes have been identified which differ in their patterns of expression in various adult tissues and during development but are otherwise functionally indistinguishable (Ali and Cox 1995; Dunbar and Fothergill-Gilmore 1988).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P04075-1", "P05062-1", "P09972-1" ], "evidence": [ { "id": "R-HSA-71495", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71495" } ] }, { "id": "R-HSA-71496", "name": "D-fructose 1,6-bisphosphate <=> dihydroxyacetone phosphate + D-glyceraldehyde 3-phosphate", "equation": "", "summary": "Cytosolic aldolase catalyzes the cleavage of D-fructose 1,6-bisphosphate to yield dihydroxyacetone phosphate and D-glyceraldehyde 3-phosphate. The active form of aldolase is a homotetramer. Three aldolase isozymes have been identified which differ in their patterns of expression in various adult tissues and during development but are otherwise functionally indistinguishable (Ali and Cox 1995; Freemont et al. 1984, 1988).", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-30014" ], "output_participant_list": [ "R-ALL-75970" ], "enzyme_list": [ "P04075-1", "P05062-1", "P09972-1" ], "evidence": [ { "id": "R-HSA-71496", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71496" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-30014", "participant_name": "F1,6PP [cytosol]", "crossref": [ { "id": "32966", "database": "ChEBI", "url": "" }, { "id": "C00354", "database": "COMPOUND", "url": "" }, { "id": "000004096694", "database": "ZINC", "url": "" }, { "id": "C00354", "database": "COMPOUND", "url": "" }, { "id": "32966", "database": "ChEBI", "url": "" }, { "id": "000004096694", "database": "ZINC", "url": "" }, { "id": "C00354", "database": "COMPOUND", "url": "" }, { "id": "000004096694", "database": "ZINC", "url": "" }, { "id": "32966", "database": "ChEBI", "url": "" }, { "id": "C00354", "database": "COMPOUND", "url": "" }, { "id": "32966", "database": "ChEBI", "url": "" }, { "id": "000004096694", "database": "ZINC", "url": "" }, { "id": "C00354", "database": "COMPOUND", "url": "" }, { "id": "32966", "database": "ChEBI", "url": "" }, { "id": "000004096694", "database": "ZINC", "url": "" }, { "id": "C00354", "database": "COMPOUND", "url": "" }, { "id": "32966", "database": "ChEBI", "url": "" }, { "id": "000004096694", "database": "ZINC", "url": "" }, { "id": "32966", "database": "ChEBI", "url": "" }, { "id": "000004096694", "database": "ZINC", "url": "" }, { "id": "C00354", "database": "COMPOUND", "url": "" } ] }, { "participant_id": "R-ALL-75970", "participant_name": "DHAP [cytosol]", "crossref": [ { "id": "000024492326", "database": "ZINC", "url": "" }, { "id": "C00111", "database": "COMPOUND", "url": "" }, { "id": "57642", "database": "ChEBI", "url": "" }, { "id": "57642", "database": "ChEBI", "url": "" }, { "id": "C00111", "database": "COMPOUND", "url": "" }, { "id": "000024492326", "database": "ZINC", "url": "" }, { "id": "C00111", "database": "COMPOUND", "url": "" }, { "id": "57642", "database": "ChEBI", "url": "" }, { "id": "000024492326", "database": "ZINC", "url": "" }, { "id": "C00111", "database": "COMPOUND", "url": "" }, { "id": "57642", "database": "ChEBI", "url": "" }, { "id": "000024492326", "database": "ZINC", "url": "" }, { "id": "C00111", "database": "COMPOUND", "url": "" }, { "id": "57642", "database": "ChEBI", "url": "" }, { "id": "000024492326", "database": "ZINC", "url": "" }, { "id": "C00111", "database": "COMPOUND", "url": "" }, { "id": "57642", "database": "ChEBI", "url": "" }, { "id": "000024492326", "database": "ZINC", "url": "" }, { "id": "C00111", "database": "COMPOUND", "url": "" }, { "id": "57642", "database": "ChEBI", "url": "" }, { "id": "000024492326", "database": "ZINC", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "A0A8I6ANB6", "gene_name": "ENSRNOG00000063843", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "A0A8I6ANB6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6ANB6" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "A0A8I6ANB6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6ANB6" } ] } ] }, { "uniprot_ac": "A6ZI46", "gene_name": "Aldoart1", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "A6ZI46", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6ZI46" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "A6ZI46", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6ZI46" } ] } ] }, { "uniprot_ac": "A6ZI47", "gene_name": "Aldoart2", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "A6ZI47", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6ZI47" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "A6ZI47", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6ZI47" } ] } ] }, { "uniprot_ac": "O00391", "gene_name": "QSOX1", "activity": [ { "ec_number": "1.8.3.2", "activity": "O2 + 2 R'C(R)SH = H2O2 + R'C(R)S-S(R)CR'.", "evidence": [ { "id": "O00391", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00391" } ] }, { "ec_number": "1.8.3.2", "activity": "", "evidence": [ { "id": "O00391", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00391" } ] } ] }, { "uniprot_ac": "O00487", "gene_name": "PSMD14", "activity": [ { "ec_number": "3.4.19.-", "activity": "", "evidence": [ { "id": "O00487", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00487" } ] } ] }, { "uniprot_ac": "O00571", "gene_name": "DDX3X", "activity": [ { "ec_number": "3.6.4.13", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "O00571", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00571" } ] }, { "ec_number": "3.6.4.13", "activity": "", "evidence": [ { "id": "O00571", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00571" } ] } ] }, { "uniprot_ac": "O00764", "gene_name": "PDXK", "activity": [ { "ec_number": "2.7.1.35", "activity": "ATP + pyridoxal = ADP + H(+) + pyridoxal 5'-phosphate.", "evidence": [ { "id": "O00764", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00764" } ] }, { "ec_number": "2.7.1.35", "activity": "", "evidence": [ { "id": "O00764", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00764" } ] } ] }, { "uniprot_ac": "O75874", "gene_name": "IDH1", "activity": [ { "ec_number": "1.1.1.42", "activity": "D-threo-isocitrate + NADP(+) = 2-oxoglutarate + CO2 + NADPH.", "evidence": [ { "id": "O75874", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75874" } ] }, { "ec_number": "1.1.1.42", "activity": "", "evidence": [ { "id": "O75874", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75874" } ] } ] }, { "uniprot_ac": "P00488", "gene_name": "F13A1", "activity": [ { "ec_number": "2.3.2.13", "activity": "L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L-lysyl-N(6)-5-L-glutamyl-[protein] + NH4(+).", "evidence": [ { "id": "P00488", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00488" } ] }, { "ec_number": "2.3.2.13", "activity": "", "evidence": [ { "id": "P00488", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00488" } ] } ] }, { "uniprot_ac": "P00491", "gene_name": "PNP", "activity": [ { "ec_number": "2.4.2.1", "activity": "a purine 2'-deoxy-D-ribonucleoside + phosphate = 2-deoxy-alpha-D-ribose 1-phosphate + a purine nucleobase.", "evidence": [ { "id": "P00491", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00491" } ] }, { "ec_number": "2.4.2.1", "activity": "", "evidence": [ { "id": "P00491", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00491" } ] } ] }, { "uniprot_ac": "P00746", "gene_name": "CFD", "activity": [ { "ec_number": "3.4.21.46", "activity": "Selective cleavage of Arg-|-Lys bond in complement factor B when in complex with complement subcomponent C3b or with cobra venom factor.", "evidence": [ { "id": "P00746", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00746" } ] }, { "ec_number": "3.4.21.46", "activity": "", "evidence": [ { "id": "P00746", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00746" } ] } ] }, { "uniprot_ac": "P00747", "gene_name": "PLG", "activity": [ { "ec_number": "3.4.21.7", "activity": "Preferential cleavage: Lys-|-Xaa > Arg-|-Xaa, higher selectivity than trypsin. Converts fibrin into soluble products.", "evidence": [ { "id": "P00747", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00747" } ] }, { "ec_number": "3.4.21.7", "activity": "", "evidence": [ { "id": "P00747", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00747" } ] } ] }, { "uniprot_ac": "P00884", "gene_name": "Aldob", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P00884", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00884" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P00884", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00884" } ] } ] }, { "uniprot_ac": "P02788", "gene_name": "LTF", "activity": [ { "ec_number": "3.4.21.-", "activity": "", "evidence": [ { "id": "P02788", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02788" } ] } ] }, { "uniprot_ac": "P02794", "gene_name": "FTH1", "activity": [ { "ec_number": "1.16.3.1", "activity": "4 Fe(2+) + 4 H(+) + O2 = 4 Fe(3+) + 2 H2O.", "evidence": [ { "id": "P02794", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02794" } ] }, { "ec_number": "1.16.3.1", "activity": "", "evidence": [ { "id": "P02794", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02794" } ] } ] }, { "uniprot_ac": "P04040", "gene_name": "CAT", "activity": [ { "ec_number": "1.11.1.6", "activity": "2 H2O2 = 2 H2O + O2.", "evidence": [ { "id": "P04040", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04040" } ] }, { "ec_number": "1.11.1.6", "activity": "", "evidence": [ { "id": "P04040", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04040" } ] } ] }, { "uniprot_ac": "P04075", "gene_name": "ALDOA", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P04075", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04075" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P04075", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04075" } ] } ] }, { "uniprot_ac": "P05062", "gene_name": "ALDOB", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P05062", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05062" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P05062", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05062" } ] } ] }, { "uniprot_ac": "P05063", "gene_name": "Aldoc", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P05063", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05063" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P05063", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05063" } ] } ] }, { "uniprot_ac": "P05064", "gene_name": "Aldoa", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P05064", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05064" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P05064", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05064" } ] } ] }, { "uniprot_ac": "P05065", "gene_name": "Aldoa", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P05065", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05065" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P05065", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05065" } ] } ] }, { "uniprot_ac": "P06737", "gene_name": "PYGL", "activity": [ { "ec_number": "2.4.1.1", "activity": "[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate.", "evidence": [ { "id": "P06737", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06737" } ] }, { "ec_number": "2.4.1.1", "activity": "", "evidence": [ { "id": "P06737", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06737" } ] } ] }, { "uniprot_ac": "P06744", "gene_name": "GPI", "activity": [ { "ec_number": "5.3.1.9", "activity": "alpha-D-glucose 6-phosphate = beta-D-fructose 6-phosphate.", "evidence": [ { "id": "P06744", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06744" } ] }, { "ec_number": "5.3.1.9", "activity": "", "evidence": [ { "id": "P06744", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06744" } ] } ] }, { "uniprot_ac": "P07339", "gene_name": "CTSD", "activity": [ { "ec_number": "3.4.23.5", "activity": "Specificity similar to, but narrower than, that of pepsin A. Does not cleave the 4-Gln-|-His-5 bond in B chain of insulin.", "evidence": [ { "id": "P07339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07339" } ] }, { "ec_number": "3.4.23.5", "activity": "", "evidence": [ { "id": "P07339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07339" } ] } ] }, { "uniprot_ac": "P07384", "gene_name": "CAPN1", "activity": [ { "ec_number": "3.4.22.52", "activity": "Broad endopeptidase specificity.", "evidence": [ { "id": "P07384", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07384" } ] }, { "ec_number": "3.4.22.52", "activity": "", "evidence": [ { "id": "P07384", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07384" } ] } ] }, { "uniprot_ac": "P07741", "gene_name": "APRT", "activity": [ { "ec_number": "2.4.2.7", "activity": "AMP + diphosphate = 5-phospho-alpha-D-ribose 1-diphosphate + adenine.", "evidence": [ { "id": "P07741", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07741" } ] }, { "ec_number": "2.4.2.7", "activity": "", "evidence": [ { "id": "P07741", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07741" } ] } ] }, { "uniprot_ac": "P07764", "gene_name": "Ald1", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P07764", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07764" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P07764", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07764" } ] } ] }, { "uniprot_ac": "P07858", "gene_name": "CTSB", "activity": [ { "ec_number": "3.4.22.1", "activity": "Hydrolysis of proteins with broad specificity for peptide bonds. Preferentially cleaves -Arg-Arg-|-Xaa bonds in small molecule substrates (thus differing from cathepsin L). In addition to being an endopeptidase, shows peptidyl-dipeptidase activity, liberating C-terminal dipeptides.", "evidence": [ { "id": "P07858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07858" } ] }, { "ec_number": "3.4.22.1", "activity": "", "evidence": [ { "id": "P07858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07858" } ] } ] }, { "uniprot_ac": "P07900", "gene_name": "HSP90AA1", "activity": [ { "ec_number": "3.6.4.10", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P07900", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07900" } ] }, { "ec_number": "3.6.4.10", "activity": "", "evidence": [ { "id": "P07900", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07900" } ] } ] }, { "uniprot_ac": "P08236", "gene_name": "GUSB", "activity": [ { "ec_number": "3.2.1.31", "activity": "a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate.", "evidence": [ { "id": "P08236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08236" } ] }, { "ec_number": "3.2.1.31", "activity": "", "evidence": [ { "id": "P08236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08236" } ] } ] }, { "uniprot_ac": "P09117", "gene_name": "Aldoc", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P09117", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09117" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P09117", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09117" } ] } ] }, { "uniprot_ac": "P09211", "gene_name": "GSTP1", "activity": [ { "ec_number": "2.5.1.18", "activity": "glutathione + RX = a halide anion + an S-substituted glutathione + H(+).", "evidence": [ { "id": "P09211", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09211" } ] }, { "ec_number": "2.5.1.18", "activity": "", "evidence": [ { "id": "P09211", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09211" } ] } ] }, { "uniprot_ac": "P09769", "gene_name": "FGR", "activity": [ { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P09769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09769" } ] }, { "ec_number": "2.7.10.2", "activity": "", "evidence": [ { "id": "P09769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09769" } ] } ] }, { "uniprot_ac": "P09917", "gene_name": "ALOX5", "activity": [ { "ec_number": "1.13.11.-", "activity": "", "evidence": [ { "id": "P09917", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09917" } ] }, { "ec_number": "1.13.11.34", "activity": "(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = H2O + leukotriene A4.", "evidence": [ { "id": "P09917", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09917" } ] } ] }, { "uniprot_ac": "P09960", "gene_name": "LTA4H", "activity": [ { "ec_number": "3.3.2.6", "activity": "H2O + leukotriene A4 = leukotriene B4.", "evidence": [ { "id": "P09960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09960" } ] }, { "ec_number": "3.4.11.4", "activity": "Release of the N-terminal residue from a tripeptide.", "evidence": [ { "id": "P09960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09960" } ] }, { "ec_number": "3.3.2.6", "activity": "", "evidence": [ { "id": "P09960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09960" } ] } ] }, { "uniprot_ac": "P09972", "gene_name": "ALDOC", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P09972", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09972" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P09972", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09972" } ] } ] }, { "uniprot_ac": "P11142", "gene_name": "HSPA8", "activity": [ { "ec_number": "3.6.4.10", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P11142", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11142" } ] }, { "ec_number": "3.6.4.10", "activity": "", "evidence": [ { "id": "P11142", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11142" } ] } ] }, { "uniprot_ac": "P11678", "gene_name": "EPX", "activity": [ { "ec_number": "1.11.1.7", "activity": "2 a phenolic donor + H2O2 = 2 a phenolic radical donor + 2 H2O.", "evidence": [ { "id": "P11678", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11678" } ] }, { "ec_number": "1.11.1.7", "activity": "", "evidence": [ { "id": "P11678", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11678" } ] } ] }, { "uniprot_ac": "P12268", "gene_name": "IMPDH2", "activity": [ { "ec_number": "1.1.1.205", "activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.", "evidence": [ { "id": "P12268", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12268" } ] }, { "ec_number": "1.1.1.205", "activity": "", "evidence": [ { "id": "P12268", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12268" } ] } ] }, { "uniprot_ac": "P12956", "gene_name": "XRCC6", "activity": [ { "ec_number": "4.2.99.-", "activity": "", "evidence": [ { "id": "P12956", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12956" } ] }, { "ec_number": "3.6.4.-", "activity": "", "evidence": [ { "id": "P12956", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12956" } ] } ] }, { "uniprot_ac": "P13010", "gene_name": "XRCC5", "activity": [ { "ec_number": "3.6.4.-", "activity": "", "evidence": [ { "id": "P13010", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13010" } ] } ] }, { "uniprot_ac": "P13639", "gene_name": "EEF2", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P13639", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13639" } ] } ] }, { "uniprot_ac": "P13716", "gene_name": "ALAD", "activity": [ { "ec_number": "4.2.1.24", "activity": "2 5-aminolevulinate = H(+) + 2 H2O + porphobilinogen.", "evidence": [ { "id": "P13716", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13716" } ] }, { "ec_number": "4.2.1.24", "activity": "", "evidence": [ { "id": "P13716", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13716" } ] } ] }, { "uniprot_ac": "P13798", "gene_name": "APEH", "activity": [ { "ec_number": "3.4.19.1", "activity": "Internal cleavage of oxidized and glycated proteins.", "evidence": [ { "id": "P13798", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13798" } ] }, { "ec_number": "3.4.19.1", "activity": "", "evidence": [ { "id": "P13798", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13798" } ] } ] }, { "uniprot_ac": "P14174", "gene_name": "MIF", "activity": [ { "ec_number": "5.3.2.1", "activity": "3-phenylpyruvate = enol-phenylpyruvate.", "evidence": [ { "id": "P14174", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14174" } ] }, { "ec_number": "5.3.3.12", "activity": "L-dopachrome = 5,6-dihydroxyindole-2-carboxylate.", "evidence": [ { "id": "P14174", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14174" } ] }, { "ec_number": "5.3.2.1", "activity": "", "evidence": [ { "id": "P14174", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14174" } ] } ] }, { "uniprot_ac": "P14540", "gene_name": "FBA1", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P14540", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14540" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P14540", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14540" } ] } ] }, { "uniprot_ac": "P14618", "gene_name": "PKM", "activity": [ { "ec_number": "2.7.1.40", "activity": "CTP + pyruvate = CDP + H(+) + phosphoenolpyruvate.", "evidence": [ { "id": "P14618", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14618" } ] }, { "ec_number": "2.7.1.40", "activity": "", "evidence": [ { "id": "P14618", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14618" } ] }, { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P14618", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14618" } ] }, { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P14618", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14618" } ] } ] }, { "uniprot_ac": "P14780", "gene_name": "MMP9", "activity": [ { "ec_number": "3.4.24.35", "activity": "Cleavage of gelatin types I and V and collagen types IV and V.", "evidence": [ { "id": "P14780", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14780" } ] }, { "ec_number": "3.4.24.35", "activity": "", "evidence": [ { "id": "P14780", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14780" } ] } ] }, { "uniprot_ac": "P15586", "gene_name": "GNS", "activity": [ { "ec_number": "3.1.6.14", "activity": "Hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate.", "evidence": [ { "id": "P15586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15586" } ] }, { "ec_number": "3.1.6.14", "activity": "", "evidence": [ { "id": "P15586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15586" } ] } ] }, { "uniprot_ac": "P15848", "gene_name": "ARSB", "activity": [ { "ec_number": "3.1.6.12", "activity": "Hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate.", "evidence": [ { "id": "P15848", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15848" } ] }, { "ec_number": "3.1.6.12", "activity": "", "evidence": [ { "id": "P15848", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15848" } ] } ] }, { "uniprot_ac": "P16278", "gene_name": "GLB1", "activity": [ { "ec_number": "3.2.1.23", "activity": "Hydrolysis of terminal non-reducing beta-D-galactose residues in beta-D-galactosides.", "evidence": [ { "id": "P16278", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16278" } ] }, { "ec_number": "3.2.1.23", "activity": "", "evidence": [ { "id": "P16278", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16278" } ] } ] }, { "uniprot_ac": "P17858", "gene_name": "PFKL", "activity": [ { "ec_number": "2.7.1.11", "activity": "ATP + beta-D-fructose 6-phosphate = ADP + beta-D-fructose 1,6-bisphosphate + H(+).", "evidence": [ { "id": "P17858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17858" } ] }, { "ec_number": "2.7.1.11", "activity": "", "evidence": [ { "id": "P17858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17858" } ] } ] }, { "uniprot_ac": "P18669", "gene_name": "PGAM1", "activity": [ { "ec_number": "5.4.2.11", "activity": "(2R)-2-phosphoglycerate = (2R)-3-phosphoglycerate.", "evidence": [ { "id": "P18669", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18669" } ] }, { "ec_number": "5.4.2.4", "activity": "(2R)-3-phospho-glyceroyl phosphate = (2R)-2,3-bisphosphoglycerate + H(+).", "evidence": [ { "id": "P18669", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18669" } ] }, { "ec_number": "5.4.2.4", "activity": "", "evidence": [ { "id": "P18669", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18669" } ] }, { "ec_number": "5.4.2.11", "activity": "", "evidence": [ { "id": "P18669", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18669" } ] } ] }, { "uniprot_ac": "P20839", "gene_name": "IMPDH1", "activity": [ { "ec_number": "1.1.1.205", "activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.", "evidence": [ { "id": "P20839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20839" } ] }, { "ec_number": "1.1.1.205", "activity": "", "evidence": [ { "id": "P20839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20839" } ] } ] }, { "uniprot_ac": "P22392", "gene_name": "NME2", "activity": [ { "ec_number": "2.7.4.6", "activity": "a ribonucleoside 5'-diphosphate + ATP = a ribonucleoside 5'-triphosphate + ADP.", "evidence": [ { "id": "P22392", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22392" } ] }, { "ec_number": "2.7.13.3", "activity": "ATP + protein L-histidine = ADP + protein N-phospho-L-histidine.", "evidence": [ { "id": "P22392", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22392" } ] }, { "ec_number": "2.7.4.6", "activity": "", "evidence": [ { "id": "P22392", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22392" } ] }, { "ec_number": "2.7.13.3", "activity": "", "evidence": [ { "id": "P22392", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22392" } ] } ] }, { "uniprot_ac": "P22894", "gene_name": "MMP8", "activity": [ { "ec_number": "3.4.24.34", "activity": "Cleavage of interstitial collagens in the triple helical domain. Unlike EC 3.4.24.7, this enzyme cleaves type III collagen more slowly than type I.", "evidence": [ { "id": "P22894", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22894" } ] }, { "ec_number": "3.4.24.34", "activity": "", "evidence": [ { "id": "P22894", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22894" } ] } ] }, { "uniprot_ac": "P25774", "gene_name": "CTSS", "activity": [ { "ec_number": "3.4.22.27", "activity": "Similar to cathepsin L, but with much less activity on Z-Phe-Arg-|-NHMec, and more activity on the Z-Val-Val-Arg-|-Xaa compound.", "evidence": [ { "id": "P25774", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25774" } ] }, { "ec_number": "3.4.22.27", "activity": "", "evidence": [ { "id": "P25774", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25774" } ] } ] }, { "uniprot_ac": "P28482", "gene_name": "MAPK1", "activity": [ { "ec_number": "2.7.11.24", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P28482", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28482" } ] }, { "ec_number": "2.7.11.24", "activity": "", "evidence": [ { "id": "P28482", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28482" } ] } ] }, { "uniprot_ac": "P29350", "gene_name": "PTPN6", "activity": [ { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "P29350", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29350" } ] }, { "ec_number": "3.1.3.48", "activity": "", "evidence": [ { "id": "P29350", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29350" } ] } ] }, { "uniprot_ac": "P32320", "gene_name": "CDA", "activity": [ { "ec_number": "3.5.4.5", "activity": "2'-deoxycytidine + H(+) + H2O = 2'-deoxyuridine + NH4(+).", "evidence": [ { "id": "P32320", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32320" } ] }, { "ec_number": "3.5.4.5", "activity": "", "evidence": [ { "id": "P32320", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32320" } ] } ] }, { "uniprot_ac": "P35030", "gene_name": "PRSS3", "activity": [ { "ec_number": "3.4.21.4", "activity": "Preferential cleavage: Arg-|-Xaa, Lys-|-Xaa.", "evidence": [ { "id": "P35030", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35030" } ] }, { "ec_number": "3.4.21.4", "activity": "", "evidence": [ { "id": "P35030", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35030" } ] } ] }, { "uniprot_ac": "P36871", "gene_name": "PGM1", "activity": [ { "ec_number": "5.4.2.2", "activity": "alpha-D-glucose 1-phosphate = alpha-D-glucose 6-phosphate.", "evidence": [ { "id": "P36871", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36871" } ] }, { "ec_number": "5.4.2.2", "activity": "", "evidence": [ { "id": "P36871", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36871" } ] } ] }, { "uniprot_ac": "P46976", "gene_name": "GYG1", "activity": [ { "ec_number": "2.4.1.186", "activity": "[1,4-alpha-D-glucosyl](n)-L-tyrosyl-[glycogenin] + UDP-alpha-D-glucose = [1,4-alpha-D-glucosyl](n+1)-L-tyrosyl-[glycogenin] + H(+) + UDP.", "evidence": [ { "id": "P46976", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46976" } ] }, { "ec_number": "2.4.1.186", "activity": "", "evidence": [ { "id": "P46976", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46976" } ] } ] }, { "uniprot_ac": "P52790", "gene_name": "HK3", "activity": [ { "ec_number": "2.7.1.1", "activity": "ATP + D-fructose = ADP + D-fructose 6-phosphate + H(+).", "evidence": [ { "id": "P52790", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52790" } ] }, { "ec_number": "2.7.1.1", "activity": "", "evidence": [ { "id": "P52790", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52790" } ] }, { "ec_number": "2.7.1.-", "activity": "", "evidence": [ { "id": "P52790", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52790" } ] } ] }, { "uniprot_ac": "P53396", "gene_name": "ACLY", "activity": [ { "ec_number": "2.3.3.8", "activity": "acetyl-CoA + ADP + oxaloacetate + phosphate = ATP + citrate + CoA.", "evidence": [ { "id": "P53396", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53396" } ] }, { "ec_number": "2.3.3.8", "activity": "", "evidence": [ { "id": "P53396", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53396" } ] } ] }, { "uniprot_ac": "P55072", "gene_name": "VCP", "activity": [ { "ec_number": "3.6.4.6", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P55072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55072" } ] }, { "ec_number": "3.6.4.6", "activity": "", "evidence": [ { "id": "P55072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55072" } ] } ] }, { "uniprot_ac": "P61626", "gene_name": "LYZ", "activity": [ { "ec_number": "3.2.1.17", "activity": "Hydrolysis of (1->4)-beta-linkages between N-acetylmuramic acid and N-acetyl-D-glucosamine residues in a peptidoglycan and between N-acetyl-D-glucosamine residues in chitodextrins.", "evidence": [ { "id": "P61626", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61626" } ] }, { "ec_number": "3.2.1.17", "activity": "", "evidence": [ { "id": "P61626", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61626" } ] } ] }, { "uniprot_ac": "P62937", "gene_name": "PPIA", "activity": [ { "ec_number": "5.2.1.8", "activity": "[protein]-peptidylproline (omega=180) = [protein]-peptidylproline (omega=0).", "evidence": [ { "id": "P62937", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62937" } ] }, { "ec_number": "5.2.1.8", "activity": "", "evidence": [ { "id": "P62937", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62937" } ] } ] }, { "uniprot_ac": "P68104", "gene_name": "EEF1A1", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P68104", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P68104" } ] } ] }, { "uniprot_ac": "P68402", "gene_name": "PAFAH1B2", "activity": [ { "ec_number": "3.1.1.47", "activity": "a 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + acetate + H(+).", "evidence": [ { "id": "P68402", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P68402" } ] }, { "ec_number": "3.1.1.47", "activity": "", "evidence": [ { "id": "P68402", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P68402" } ] } ] }, { "uniprot_ac": "P98066", "gene_name": "TNFAIP6", "activity": [ { "ec_number": "3.1.1.-", "activity": "", "evidence": [ { "id": "P98066", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P98066" } ] } ] }, { "uniprot_ac": "Q01432", "gene_name": "AMPD3", "activity": [ { "ec_number": "3.5.4.6", "activity": "AMP + H(+) + H2O = IMP + NH4(+).", "evidence": [ { "id": "Q01432", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q01432" } ] }, { "ec_number": "3.5.4.6", "activity": "", "evidence": [ { "id": "Q01432", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q01432" } ] } ] }, { "uniprot_ac": "Q13162", "gene_name": "PRDX4", "activity": [ { "ec_number": "1.11.1.24", "activity": "[thioredoxin]-dithiol + a hydroperoxide = [thioredoxin]-disulfide + an alcohol + H2O.", "evidence": [ { "id": "Q13162", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13162" } ] }, { "ec_number": "1.11.1.24", "activity": "", "evidence": [ { "id": "Q13162", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13162" } ] } ] }, { "uniprot_ac": "Q13231", "gene_name": "CHIT1", "activity": [ { "ec_number": "3.2.1.14", "activity": "Random endo-hydrolysis of N-acetyl-beta-D-glucosaminide (1->4)-beta-linkages in chitin and chitodextrins.", "evidence": [ { "id": "Q13231", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13231" } ] }, { "ec_number": "3.2.1.14", "activity": "", "evidence": [ { "id": "Q13231", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13231" } ] } ] }, { "uniprot_ac": "Q13464", "gene_name": "ROCK1", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q13464", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13464" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "Q13464", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13464" } ] } ] }, { "uniprot_ac": "Q13510", "gene_name": "ASAH1", "activity": [ { "ec_number": "3.5.1.23", "activity": "an N-acylsphing-4-enine + H2O = a fatty acid + sphing-4-enine.", "evidence": [ { "id": "Q13510", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13510" } ] }, { "ec_number": "3.5.1.23", "activity": "", "evidence": [ { "id": "Q13510", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13510" } ] }, { "ec_number": "3.5.1.-", "activity": "", "evidence": [ { "id": "Q13510", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13510" } ] } ] }, { "uniprot_ac": "Q14004", "gene_name": "CDK13", "activity": [ { "ec_number": "2.7.11.22", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q14004", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14004" } ] }, { "ec_number": "2.7.11.23", "activity": "[DNA-directed RNA polymerase] + ATP = ADP + H(+) + phospho-[DNA-directed RNA polymerase].", "evidence": [ { "id": "Q14004", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14004" } ] }, { "ec_number": "2.7.11.22", "activity": "", "evidence": [ { "id": "Q14004", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14004" } ] }, { "ec_number": "2.7.11.23", "activity": "", "evidence": [ { "id": "Q14004", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14004" } ] } ] }, { "uniprot_ac": "Q16539", "gene_name": "MAPK14", "activity": [ { "ec_number": "2.7.11.24", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q16539", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16539" } ] }, { "ec_number": "2.7.11.24", "activity": "", "evidence": [ { "id": "Q16539", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16539" } ] } ] }, { "uniprot_ac": "Q16769", "gene_name": "QPCT", "activity": [ { "ec_number": "2.3.2.5", "activity": "N-terminal L-glutaminyl-[peptide] = N-terminal 5-oxo-L-prolyl-[peptide] + NH4(+).", "evidence": [ { "id": "Q16769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16769" } ] }, { "ec_number": "2.3.2.5", "activity": "", "evidence": [ { "id": "Q16769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16769" } ] } ] }, { "uniprot_ac": "Q6AY07", "gene_name": "Aldoart2", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "Q6AY07", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6AY07" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "Q6AY07", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6AY07" } ] } ] }, { "uniprot_ac": "Q7Z6Z7", "gene_name": "HUWE1", "activity": [ { "ec_number": "2.3.2.26", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q7Z6Z7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7Z6Z7" } ] }, { "ec_number": "2.3.2.26", "activity": "", "evidence": [ { "id": "Q7Z6Z7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7Z6Z7" } ] } ] }, { "uniprot_ac": "Q86A67", "gene_name": "fba", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "Q86A67", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86A67" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "Q86A67", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86A67" } ] } ] }, { "uniprot_ac": "Q8NBM8", "gene_name": "PCYOX1L", "activity": [ { "ec_number": "1.8.3.-", "activity": "", "evidence": [ { "id": "Q8NBM8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBM8" } ] } ] }, { "uniprot_ac": "Q8NBX0", "gene_name": "SCCPDH", "activity": [ { "ec_number": "1.-.-.-", "activity": "", "evidence": [ { "id": "Q8NBX0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBX0" } ] } ] }, { "uniprot_ac": "Q8WVQ1", "gene_name": "CANT1", "activity": [ { "ec_number": "3.6.1.6", "activity": "ADP + H2O = AMP + H(+) + phosphate.", "evidence": [ { "id": "Q8WVQ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WVQ1" } ] }, { "ec_number": "3.6.1.6", "activity": "", "evidence": [ { "id": "Q8WVQ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WVQ1" } ] } ] }, { "uniprot_ac": "Q91Y97", "gene_name": "Aldob", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "Q91Y97", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91Y97" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "Q91Y97", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91Y97" } ] } ] }, { "uniprot_ac": "Q92820", "gene_name": "GGH", "activity": [ { "ec_number": "3.4.19.9", "activity": "(6S)-5,6,7,8-tetrahydrofolyl-(gamma-L-Glu)(n) + (n-1) H2O = (6S)-5,6,7,8-tetrahydrofolate + (n-1) L-glutamate.", "evidence": [ { "id": "Q92820", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92820" } ] }, { "ec_number": "3.4.19.9", "activity": "", "evidence": [ { "id": "Q92820", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92820" } ] } ] }, { "uniprot_ac": "Q96G03", "gene_name": "PGM2", "activity": [ { "ec_number": "5.4.2.2", "activity": "alpha-D-glucose 1-phosphate = alpha-D-glucose 6-phosphate.", "evidence": [ { "id": "Q96G03", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96G03" } ] }, { "ec_number": "5.4.2.7", "activity": "2-deoxy-alpha-D-ribose 1-phosphate = 2-deoxy-D-ribose 5-phosphate.", "evidence": [ { "id": "Q96G03", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96G03" } ] }, { "ec_number": "5.4.2.7", "activity": "", "evidence": [ { "id": "Q96G03", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96G03" } ] } ] }, { "uniprot_ac": "Q99436", "gene_name": "PSMB7", "activity": [ { "ec_number": "3.4.25.1", "activity": "Cleavage of peptide bonds with very broad specificity.", "evidence": [ { "id": "Q99436", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99436" } ] }, { "ec_number": "3.4.25.1", "activity": "", "evidence": [ { "id": "Q99436", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99436" } ] } ] }, { "uniprot_ac": "Q9H8H3", "gene_name": "TMT1A", "activity": [ { "ec_number": "2.1.1.348", "activity": "an adenosine in mRNA + S-adenosyl-L-methionine = an N(6)-methyladenosine in mRNA + H(+) + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q9H8H3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H8H3" } ] }, { "ec_number": "2.1.1.9", "activity": "a thiol + S-adenosyl-L-methionine = a methyl thioether + H(+) + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q9H8H3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H8H3" } ] }, { "ec_number": "2.1.1.9", "activity": "", "evidence": [ { "id": "Q9H8H3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H8H3" } ] } ] }, { "uniprot_ac": "Q9NQR4", "gene_name": "NIT2", "activity": [ { "ec_number": "3.5.1.3", "activity": "a monoamide of a dicarboxylate + H2O = a dicarboxylate + NH4(+).", "evidence": [ { "id": "Q9NQR4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NQR4" } ] }, { "ec_number": "3.5.1.3", "activity": "", "evidence": [ { "id": "Q9NQR4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NQR4" } ] } ] }, { "uniprot_ac": "Q9P0J7", "gene_name": "KCMF1", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q9P0J7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P0J7" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9P0J7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P0J7" } ] } ] }, { "uniprot_ac": "Q9UBR2", "gene_name": "CTSZ", "activity": [ { "ec_number": "3.4.18.1", "activity": "Release of C-terminal amino acid residues with broad specificity, but lacks action on C-terminal proline. Shows weak endopeptidase activity.", "evidence": [ { "id": "Q9UBR2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UBR2" } ] }, { "ec_number": "3.4.18.1", "activity": "", "evidence": [ { "id": "Q9UBR2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UBR2" } ] } ] }, { "uniprot_ac": "Q9UNP9", "gene_name": "PPIE", "activity": [ { "ec_number": "5.2.1.8", "activity": "[protein]-peptidylproline (omega=180) = [protein]-peptidylproline (omega=0).", "evidence": [ { "id": "Q9UNP9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UNP9" } ] }, { "ec_number": "5.2.1.8", "activity": "", "evidence": [ { "id": "Q9UNP9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UNP9" } ] } ] }, { "uniprot_ac": "Q9Y315", "gene_name": "DERA", "activity": [ { "ec_number": "4.1.2.4", "activity": "2-deoxy-D-ribose 5-phosphate = acetaldehyde + D-glyceraldehyde 3-phosphate.", "evidence": [ { "id": "Q9Y315", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y315" } ] }, { "ec_number": "4.1.2.4", "activity": "", "evidence": [ { "id": "Q9Y315", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y315" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 344, 354 ], "snv_sites": [ 169, 243, 285, 290, 344, 354, 363 ], "glycation_sites": [], "phosphorylation_sites": [ 3, 5, 9, 17, 36, 37, 39, 46, 65, 132, 204, 223, 235, 241, 272, 354, 356 ], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 17 }, { "field": "total_sites", "count": 17 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 10 }, { "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_disease", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 174 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }