{ "uniprot_canonical_ac": "P07741-1", "uniprot_ac": "P07741", "uniprot_id": "APT_HUMAN", "mass": { "chemical_mass": 19608.0, "monoisotopic_mass": 19608.0 }, "refseq": { "ac": "NP_000476", "name": "adenine phosphoribosyltransferase isoform a", "summary": "Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000476" }, "gene_names": [ { "name": "APRT", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P07741", "id": "P07741" }, { "name": "AMP; APRTD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000476", "id": "NP_000476" }, { "name": "APRT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000476", "id": "NP_000476" } ], "protein_names": [ { "name": "Adenine phosphoribosyltransferase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P07741" }, { "name": "2.4.2.7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07741" }, { "name": "APRT", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07741" }, { "name": "adenine phosphoribosyltransferase isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000476", "id": "NP_000476" }, { "name": "transphosphoribosidase; AMP diphosphorylase; AMP pyrophosphorylase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000476", "id": "NP_000476" } ], "function": [ { "annotation": "Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000476", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000476" } ] }, { "annotation": "Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.", "evidence": [ { "database": "RefSeq", "id": "NP_000476", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000476" }, { "database": "PubMed", "id": "33707627", "url": "https://glygen.org/publication/PubMed/33707627" } ] }, { "annotation": "Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma.", "evidence": [ { "database": "RefSeq", "id": "NP_000476", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000476" }, { "database": "PubMed", "id": "36433728", "url": "https://glygen.org/publication/PubMed/36433728" } ] }, { "annotation": "Binding to hAPRT is substrate shape-specific in the forward reaction, whereas it is base-specific in the reverse reaction. The forward reaction is mainly a nucleophilic substitution of type 2 (SN2) with a mix of SN1-type molecular mechanism. Based on our structural analysis, a magnesium-assisted SN2-type mechanism would be involved in the reverse reaction.", "evidence": [ { "database": "RefSeq", "id": "NP_000476", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000476" }, { "database": "PubMed", "id": "31160323", "url": "https://glygen.org/publication/PubMed/31160323" } ] }, { "annotation": "Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741#function" }, { "database": "PubMed", "id": "15196008", "url": "https://glygen.org/publication/PubMed/15196008" } ] } ], "disease": [ { "disease_id": "DOID:0060350", "recommended_name": { "id": "DOID:0060350", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060350", "name": "adenine phosphoribosyltransferase deficiency", "description": "A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24." }, "synonyms": [ { "id": "DOID:0060350", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060350", "name": "2,8-dihydroxyadenine urolithiasis", "description": "" }, { "id": "DOID:0060350", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060350", "name": "APRT deficiency", "description": "" }, { "id": "MONDO:0013869", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013869", "name": "adenine phosphoribosyltransferase deficiency", "description": "Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy." }, { "id": "MONDO:0013869", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013869", "name": "2,8-dihydroxyadenine urolithiasis", "description": "" }, { "id": "MONDO:0013869", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013869", "name": "2,8-dihydroxyadeninuria disease", "description": "" }, { "id": "MONDO:0013869", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013869", "name": "APRT deficiency", "description": "" }, { "id": "MONDO:0013869", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013869", "name": "adenine phosphoribosyltransferase deficiency", "description": "" }, { "id": "MONDO:0013869", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013869", "name": "APRTD", "description": "" }, { "id": "MONDO:0013869", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013869", "name": "Dihydroxyadeninuria", "description": "" }, { "id": "MONDO:0013869", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013869", "name": "nephrolithiasis, Dha", "description": "" }, { "id": "MONDO:0013869", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013869", "name": "urolithiasis, 2,8-dihydroxyadenine", "description": "" }, { "id": "MONDO:0013869", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013869", "name": "urolithiasis, Dha", "description": "" }, { "id": "MIM:614723", "resource": "MIM", "url": "https://www.omim.org/entry/614723", "name": "Adenine phosphoribosyltransferase deficiency", "description": "Adenine phosphoribosyltransferase deficiency" } ], "evidence": [ { "id": "614723", "database": "MIM", "url": "https://www.omim.org/entry/614723" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "92.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198931", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198931" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "93.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198931", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198931" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "92.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198931", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198931" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "88.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198931", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198931" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "97.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198931", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198931" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "95.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198931", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198931" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "91.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198931", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198931" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "93.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198931", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198931" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "96.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198931", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198931" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "78.85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198931", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198931" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "93.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198931", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198931" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "98.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198931", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198931" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "97.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198931", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198931" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P07741", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07741" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P07741", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07741" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P07741", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07741" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P07741", "url": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07741" } ], "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 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07741" } ], "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": [ { 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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": 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"Protein" ] }, { "id": "H3BQF1-1", "url": "https://www.uniprot.org/uniprot/H3BQF1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BQZ9", "url": "https://www.uniprot.org/uniprot/H3BQZ9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BQZ9-1", "url": "https://www.uniprot.org/uniprot/H3BQZ9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BSW3", "url": "https://www.uniprot.org/uniprot/H3BSW3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BSW3-1", "url": "https://www.uniprot.org/uniprot/H3BSW3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07741-1", "url": "https://www.uniprot.org/uniprot/P07741-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07741-2", "url": "https://www.uniprot.org/uniprot/P07741-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGLLARHLKATHGGRIDYIAGLDSRGFLFGPSLAQELGLGCVLIRKRGKLPGPTLWASYSLEYGKAELEIQKDALEPGQRVVVVDDLLATGGTMNAACELLGRLQAEVLECVSLVELTSLKGREKLAPVPFFSLLQYE", "length": 180, "header": "sp|P07741-1|APT_HUMAN Isoform 1 of Adenine phosphoribosyltransferase OS=Homo sapiens OX=9606 GN=APRT PE=1 SV=2 CANONICAL=P07741-1" }, "isoforms": [ { "isoform_ac": "H3BQB1-1", "url": "", "sequence": { "sequence": "XADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGLLARHLKATHGGRIDYIAGLDSRGFLFGPSLAQELGLGCVLIRKRGKLPGPTLWASYSLEYGKAELEIQKDALEPGQRVVVVDDLLATGGAGLEHLLSAAQANWGPHPPIPRNHERCL", "length": 162, "header": "tr|H3BQB1-1|H3BQB1_HUMAN Computationally mapped isoform of adenine phosphoribosyltransferase OS=Homo sapiens OX=9606 GN=APRT PE=1 SV=1 CANONICAL=P07741-1" }, "locus": { "chromosome": "16", "start_pos": 88811897, "end_pos": 88809820, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000569616.1", "url": "https://www.ensembl.org/id/ENST00000569616.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000455692.1", "url": "https://www.ensembl.org/id/ENSP00000455692.1" } ] } }, { "isoform_ac": "H3BQF1-1", "url": "", "sequence": { "sequence": "MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGLLARHLKATHGGRIDYIAGLDSRGFLFGPSLAQELGLGCVLIRKRGKLPGPTLWASYSLEYGKLCFSHTEPNYTQRENAVNSFPTRAVSCPPVPQGREPQDNTR", "length": 148, "header": "tr|H3BQF1-1|APT_HUMAN Computationally mapped isoform of Adenine phosphoribosyltransferase OS=Homo sapiens OX=9606 GN=APRT PE=1 SV=8 CANONICAL=P07741-1" }, "locus": { "chromosome": "16", "start_pos": 88811899, "end_pos": 88809413, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000567713.5", "url": "https://www.ensembl.org/id/ENST00000567713.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000455749.1", "url": "https://www.ensembl.org/id/ENSP00000455749.1" } ] } }, { "isoform_ac": "H3BQZ9-1", "url": "", "sequence": { "sequence": "MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGLLARHLKATHGGRIDYIAGECPVAASRALPPLRAPRAELEIQKDALEPGQRVVVVDDLLATGGTMNAACELLGRLQAEVLECVSLVELTSLKGREKLAPVPFFSLLQYE", "length": 153, "header": "tr|H3BQZ9-1|APT_HUMAN Computationally mapped isoform of Adenine phosphoribosyltransferase OS=Homo sapiens OX=9606 GN=APRT PE=1 SV=1 CANONICAL=P07741-1" }, "locus": { "chromosome": "16", "start_pos": 88811899, "end_pos": 88809701, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000563655.5", "url": "https://www.ensembl.org/id/ENST00000563655.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456012.1", "url": "https://www.ensembl.org/id/ENSP00000456012.1" } ] } }, { "isoform_ac": "H3BSW3-1", "url": "", "sequence": { "sequence": "MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGLLARHLKATHGGRIDYIAG", "length": 63, "header": "tr|H3BSW3-1|H3BSW3_HUMAN Computationally mapped isoform of adenine phosphoribosyltransferase OS=Homo sapiens OX=9606 GN=APRT PE=1 SV=1 CANONICAL=P07741-1" }, "locus": { "chromosome": "16", "start_pos": 88811899, "end_pos": 88810147, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000567391.5", "url": "https://www.ensembl.org/id/ENST00000567391.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000457964.1", "url": "https://www.ensembl.org/id/ENSP00000457964.1" } ] } }, { "isoform_ac": "P07741-1", "url": "", "sequence": { "sequence": "MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGLLARHLKATHGGRIDYIAGLDSRGFLFGPSLAQELGLGCVLIRKRGKLPGPTLWASYSLEYGKAELEIQKDALEPGQRVVVVDDLLATGGTMNAACELLGRLQAEVLECVSLVELTSLKGREKLAPVPFFSLLQYE", "length": 180, "header": "sp|P07741-1|APT_HUMAN Isoform 1 of Adenine phosphoribosyltransferase OS=Homo sapiens OX=9606 GN=APRT PE=1 SV=2 CANONICAL=P07741-1" }, "locus": { "chromosome": "16", "start_pos": 88811899, "end_pos": 88809701, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000378364.8", "url": "https://www.ensembl.org/id/ENST00000378364.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000367615.3", "url": "https://www.ensembl.org/id/ENSP00000367615.3" } ] } }, { "isoform_ac": "P07741-2", "url": "", "sequence": { "sequence": "MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGLLARHLKATHGGRIDYIAGLDSRGFLFGPSLAQELGLGCVLIRKRGKLPGPTLWASYSLEYGKAELEIQKDALEPGQRVVVVDDLLATGV", "length": 134, "header": "sp|P07741-2|APT_HUMAN Isoform 2 of Adenine phosphoribosyltransferase OS=Homo sapiens OX=9606 GN=APRT PE=1 SV=2 CANONICAL=P07741-1" }, "locus": { "chromosome": "16", "start_pos": 88811899, "end_pos": 88809705, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000426324.6", "url": "https://www.ensembl.org/id/ENST00000426324.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000397007.2", "url": "https://www.ensembl.org/id/ENSP00000397007.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P07741", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07741" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" } ] } ], "phosphorylation": [ { "start_pos": 135, "end_pos": 135, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" }, { "database": "PubMed", "id": "19369195", "url": "https://glygen.org/publication/PubMed/19369195" }, { "database": "iPTMnet", "id": "P07741", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07741" } ], "site_lbl": "Thr135" }, { "start_pos": 15, "end_pos": 15, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" }, { "database": "PubMed", "id": "19369195", "url": "https://glygen.org/publication/PubMed/19369195" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P07741", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07741" } ], "site_lbl": "Ser15" }, { "start_pos": 30, "end_pos": 30, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P07741", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07741" } ], "site_lbl": "Ser30" }, { "start_pos": 4, "end_pos": 4, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" }, { "database": "PubMed", "id": "19369195", "url": "https://glygen.org/publication/PubMed/19369195" }, { "database": "iPTMnet", "id": "P07741", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07741" } ], "site_lbl": "Ser4" }, { "start_pos": 60, "end_pos": 60, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" }, { "database": "PubMed", "id": "19369195", "url": "https://glygen.org/publication/PubMed/19369195" }, { "database": "iPTMnet", "id": "P07741", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07741" } ], "site_lbl": "Tyr60" }, { "start_pos": 66, "end_pos": 66, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" }, { "database": "PubMed", "id": "19369195", "url": "https://glygen.org/publication/PubMed/19369195" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P07741", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07741" } ], "site_lbl": "Ser66" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT.", "journal": "Molecular genetics and metabolism", "date": "2001", "authors": "Deng L, Yang M, Frund S, Wessel T, De Abreu RA, Tischfield JA, Sahota A", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" } ], "reference": [ { "type": "PubMed", "id": "11243733", "url": "https://glygen.org/publication/PubMed/11243733" } ] }, { "title": "Structural basis for substrate specificities of cellular deoxyribonucleoside kinases.", "journal": "Nature structural biology", "date": "2001", "authors": "Johansson K, Ramaswamy S, Ljungcrantz C, Knecht W, Piskur J, Munch-Petersen B, Eriksson S, Eklund H", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "11427893", "url": "https://glygen.org/publication/PubMed/11427893" } ] }, { "title": "NADPH-dependent GMP reductase isoenzyme of human (GMPR2). Expression, purification, and kinetic properties.", "journal": "The international journal of biochemistry & cell biology", "date": "2002", "authors": "Deng Y, Wang Z, Ying K, Gu S, Ji C, Huang Y, Gu X, Wang Y, Xu Y, Li Y, Xie Y, Mao Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "12009299", "url": "https://glygen.org/publication/PubMed/12009299" } ] }, { "title": "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.", "journal": "Nature biotechnology", "date": "2003", "authors": "Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" } ], "reference": [ { "type": "PubMed", "id": "12665801", "url": "https://glygen.org/publication/PubMed/12665801" } ] }, { "title": "Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.", "journal": "The Journal of clinical investigation", "date": "1992", "authors": "Kamatani N, Hakoda M, Otsuka S, Yoshikawa H, Kashiwazaki S", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" } ], "reference": [ { "type": "PubMed", "id": "1353080", "url": "https://glygen.org/publication/PubMed/1353080" } ] }, { "title": "Molecular cloning of AMP deaminase isoform L. Sequence and bacterial expression of human AMPD2 cDNA.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Bausch-Jurken MT, Mahnke-Zizelman DK, Morisaki T, Sabina RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "1429593", "url": "https://glygen.org/publication/PubMed/1429593" } ] }, { "title": "Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis.", "journal": "Biochemistry", "date": "2004-06-22", "authors": "Silva Marcio, Silva Carlos Henrique Tomich de Paula, Iulek Jorge, Thiemann Otavio Henrique", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" } ], "reference": [ { "type": "PubMed", "id": "15196008", "url": "https://glygen.org/publication/PubMed/15196008" } ] }, { "title": "Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis.", "journal": "Nucleosides, nucleotides & nucleic acids", "date": "2004", "authors": "Taniguchi A, Tsuchida S, Kuno S, Mita M, Machida T, Ioritani N, Terai C, Yamanaka H, Kamatani N", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" } ], "reference": [ { "type": "PubMed", "id": "15571218", "url": "https://glygen.org/publication/PubMed/15571218" } ] }, { "title": "Crystal structure of human guanosine monophosphate reductase 2 (GMPR2) in complex with GMP.", "journal": "Journal of molecular biology", "date": "2006", "authors": "Li J, Wei Z, Zheng M, Gu X, Deng Y, Qiu R, Chen F, Ji C, Gong W, Xie Y, Mao Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "16359702", "url": "https://glygen.org/publication/PubMed/16359702" } ] }, { "title": "Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient.", "journal": "American journal of human genetics", "date": "1991", "authors": "Chen J, Sahota A, Laxdal T, Scrine M, Bowman S, Cui C, Stambrook PJ, Tischfield JA", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" }, { "database": "Reactome", "id": "R-HSA-9734195", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9734195" } ], "reference": [ { "type": "PubMed", "id": "1746557", "url": "https://glygen.org/publication/PubMed/1746557" } ] }, { "title": "Structural complexes of human adenine phosphoribosyltransferase reveal novel features of the APRT catalytic mechanism.", "journal": "Journal of biomolecular structure & dynamics", "date": "2008", "authors": "Silva CH, Silva M, Iulek J, Thiemann OH", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "18399692", "url": "https://glygen.org/publication/PubMed/18399692" } ] }, { "title": "Large-scale proteomics analysis of the human kinome.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Oppermann FS, Gnad F, Olsen JV, Hornberger R, Greff Z, Keri G, Mann M, Daub H", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" }, { "database": "iPTMnet", "id": "P07741", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07741" } ], "reference": [ { "type": "PubMed", "id": "19369195", "url": "https://glygen.org/publication/PubMed/19369195" } ] }, { "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": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Three-dimensional structure of human erythrocytic purine nucleoside phosphorylase at 3.2 A resolution.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Ealick SE, Rule SA, Carter DC, Greenhough TJ, Babu YS, Cook WJ, Habash J, Helliwell JR, Stoeckler JD, Parks RE Jr, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "2104852", "url": "https://glygen.org/publication/PubMed/2104852" } ] }, { "title": "A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.", "journal": "Acta paediatrica (Oslo, Norway : 1992)", "date": "2011", "authors": "Nozue H, Kamoda T, Saitoh H, Ichikawa K, Taniguchi A", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" } ], "reference": [ { "type": "PubMed", "id": "21635362", "url": "https://glygen.org/publication/PubMed/21635362" } ] }, { "title": "Adenosine deaminase-like protein 1 (ADAL1): characterization and substrate specificity in the hydrolysis of N(6)- or O(6)-substituted purine or 2-aminopurine nucleoside monophosphates.", "journal": "Journal of medicinal chemistry", "date": "2011", "authors": "Murakami E, Bao H, Mosley RT, Du J, Sofia MJ, Furman PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "21755941", "url": "https://glygen.org/publication/PubMed/21755941" } ] }, { "title": "Reaction mechanism and specificity of human GMP reductase. Substrates, inhibitors, activators, and inactivators.", "journal": "The Journal of biological chemistry", "date": "1979", "authors": "Spector T, Jones TE, Miller RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "218932", "url": "https://glygen.org/publication/PubMed/218932" } ] }, { "title": "Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-alpha-acetylation features.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Bienvenut WV, Sumpton D, Martinez A, Lilla S, Espagne C, Meinnel T, Giglione C", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" } ], "reference": [ { "type": "PubMed", "id": "22223895", "url": "https://glygen.org/publication/PubMed/22223895" } ] }, { "title": "Adenine phosphoribosyltransferase 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"database": "OMA" } ], "common_name": "Yeast" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" } ], "pmid": "" }, { "name": "secretory granule lumen", "id": "GO:0034774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034774", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "AMP binding", "id": "GO:0016208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016208", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" } ], "pmid": "" }, { "name": "adenine binding", "id": "GO:0002055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002055", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" } ], "pmid": "" }, { "name": "adenine phosphoribosyltransferase activity", "id": "GO:0003999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003999", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "AMP salvage", "id": "GO:0044209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044209", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" } ], "pmid": "" }, { "name": "IMP salvage", "id": "GO:0032264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032264", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" } ], "pmid": "" }, { "name": "purine ribonucleoside salvage", "id": "GO:0006166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006166", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" } ], "pmid": "" }, { "name": "adenine salvage", "id": "GO:0006168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006168", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" } ], "pmid": "" }, { "name": "grooming behavior", "id": "GO:0007625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007625", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" } ], "pmid": "" }, { "name": "GMP salvage", "id": "GO:0032263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032263", "evidence": [ { "database": "UniProtKB", "id": "P07741", "url": "https://www.uniprot.org/uniprot/P07741" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "16609", "name": "", "equation": "AMP + diphosphate = 5-phospho-alpha-D-ribose 1-diphosphate + adenine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P36972-1", "P07741-1", "P08030-1", "P49435-1", "P36973-1", "Q55C82-1", "Q54JK8-1", "P12426-1" ], "evidence": [ { "id": "16609", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/16609" } ] }, { "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-74213", "name": "APRT catalyzes the conversion of adenine to AMP", "equation": "", "summary": "Cytosolic APRT dimer catalyzes the reaction of adenine and 5-phospho-alpha-D-ribose 1-diphosphate to form AMP and pyrophosphate (Holden et al. 1979; Silva et al. 2008).", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-83951" ], "output_participant_list": [], "enzyme_list": [ "P07741-1" ], "evidence": [ { "id": "R-HSA-74213", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74213" } ] }, { "id": "R-HSA-9734193", "name": "Defective APRT does not convert adenine to AMP", "equation": "", "summary": "Normally in humans, adenine generated in processes such as polyamine biosynthesisis can be salvaged by conversion to AMP, catalyzed by APRT (adenine phosphoribosyltransferase). In the absence of APRT activity, however, accumulated adenine is instead converted to 2,8-dioxo-adenine. Accumulation of insoluble crystals of 2,8-dioxo-adenine in the kidneys causes the kidney damage that is a major symptom of APRT deficiency in humans (Van Acker et al. 1977; Boll\u00e9e et al. 2012). Three missense mutant alleles are annotated here (Chen et al. 1991; Hidaka et al. 1988; Sahota et al. 1994); nonsense, insertion-deletion, and splice-site mutations have also been reported (reviewed by Boll\u00e9e et al. 2012).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P07741-1" ], "evidence": [ { "id": "R-HSA-9734193", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9734193" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-83951", "participant_name": "Ade [cytosol]", "crossref": [ { "id": "C00147", "database": "COMPOUND", "url": "" }, { "id": "16708", "database": "ChEBI", "url": "" }, { "id": "000000000882", "database": "ZINC", "url": "" }, { "id": "4788", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "HMDB0000034", "database": "HMDB Metabolite", "url": "" }, { "id": "8144939", "database": "PubChem Substance", "url": "" }, { "id": "C00147", "database": "COMPOUND", "url": "" }, { "id": "16708", "database": "ChEBI", "url": "" }, { "id": "000000000882", "database": "ZINC", "url": "" }, { "id": "4788", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "HMDB0000034", "database": "HMDB Metabolite", "url": "" }, { "id": "8144939", "database": "PubChem Substance", "url": "" }, { "id": "C00147", "database": "COMPOUND", "url": "" }, { "id": "16708", "database": "ChEBI", "url": "" }, { "id": "000000000882", "database": "ZINC", "url": "" }, { "id": "4788", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "HMDB0000034", "database": "HMDB Metabolite", "url": "" }, { "id": "8144939", "database": "PubChem Substance", "url": "" }, { "id": "C00147", "database": "COMPOUND", "url": "" }, { "id": "16708", "database": "ChEBI", "url": "" }, { "id": "000000000882", "database": "ZINC", "url": "" }, { "id": "4788", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "HMDB0000034", "database": "HMDB Metabolite", "url": "" }, { "id": "8144939", "database": "PubChem Substance", "url": "" }, { "id": "C00147", "database": "COMPOUND", "url": "" }, { "id": "16708", "database": "ChEBI", "url": "" }, { "id": "000000000882", "database": "ZINC", "url": "" }, { "id": "4788", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "HMDB0000034", "database": "HMDB Metabolite", "url": "" }, { "id": "8144939", "database": "PubChem Substance", "url": "" }, { "id": "000000000882", "database": "ZINC", "url": "" }, { "id": "HMDB0000034", "database": "HMDB Metabolite", "url": "" }, { "id": "C00147", "database": "COMPOUND", "url": "" }, { "id": "8144939", "database": "PubChem Substance", "url": "" }, { "id": "4788", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "16708", "database": "ChEBI", "url": "" } ] } ], "reaction_enzymes": [ { "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": "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": "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": "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": "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": "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": "P08030", "gene_name": "Aprt", "activity": [ { "ec_number": "2.4.2.7", "activity": "AMP + diphosphate = 5-phospho-alpha-D-ribose 1-diphosphate + adenine.", "evidence": [ { "id": "P08030", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08030" } ] }, { "ec_number": "2.4.2.7", "activity": "", "evidence": [ { "id": "P08030", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08030" } ] } ] }, { "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": "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": "P12426", "gene_name": "Aprt", "activity": [ { "ec_number": "2.4.2.7", "activity": "AMP + diphosphate = 5-phospho-alpha-D-ribose 1-diphosphate + adenine.", "evidence": [ { "id": "P12426", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12426" } ] }, { "ec_number": "2.4.2.7", "activity": "", "evidence": [ { "id": "P12426", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12426" } ] } ] }, { "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": "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": "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": "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": "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": "P36972", "gene_name": "Aprt", "activity": [ { "ec_number": "2.4.2.7", "activity": "AMP + diphosphate = 5-phospho-alpha-D-ribose 1-diphosphate + adenine.", "evidence": [ { "id": "P36972", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36972" } ] }, { "ec_number": "2.4.2.7", "activity": "", "evidence": [ { "id": "P36972", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36972" } ] } ] }, { "uniprot_ac": "P36973", "gene_name": "APT2", "activity": [ { "ec_number": "2.4.2.7", "activity": "AMP + diphosphate = 5-phospho-alpha-D-ribose 1-diphosphate + adenine.", "evidence": [ { "id": "P36973", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36973" } ] }, { "ec_number": "2.4.2.7", "activity": "", "evidence": [ { "id": "P36973", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36973" } ] } ] }, { "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": "P49435", "gene_name": "APT1", "activity": [ { "ec_number": "2.4.2.7", "activity": "AMP + diphosphate = 5-phospho-alpha-D-ribose 1-diphosphate + adenine.", "evidence": [ { "id": "P49435", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49435" } ] }, { "ec_number": "2.4.2.7", "activity": "", "evidence": [ { "id": "P49435", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49435" } ] } ] }, { "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": "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": "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": "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": "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": "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": "Q54JK8", "gene_name": "", "activity": [ { "ec_number": "2.4.2.7", "activity": "AMP + diphosphate = 5-phospho-alpha-D-ribose 1-diphosphate + adenine.", "evidence": [ { "id": "Q54JK8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54JK8" } ] }, { "ec_number": "2.4.2.7", "activity": "", "evidence": [ { "id": "Q54JK8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54JK8" } ] } ] }, { "uniprot_ac": "Q55C82", "gene_name": "aprt", "activity": [ { "ec_number": "2.4.2.7", "activity": "AMP + diphosphate = 5-phospho-alpha-D-ribose 1-diphosphate + adenine.", "evidence": [ { "id": "Q55C82", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55C82" } ] }, { "ec_number": "2.4.2.7", "activity": "", "evidence": [ { "id": "Q55C82", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55C82" } ] } ] }, { "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": "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": "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": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 4, 15, 30, 60, 66, 135 ], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "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", 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} ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }