{ "uniprot_canonical_ac": "P00491-1", "uniprot_ac": "P00491", "uniprot_id": "PNPH_HUMAN", "mass": { "chemical_mass": 32118.0, "monoisotopic_mass": 32118.0 }, "refseq": { "ac": "NP_000261", "name": "purine nucleoside phosphorylase", "summary": "This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000261" }, "gene_names": [ { "name": "PNP", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P00491", "id": "P00491" }, { "name": "NP; PRO1837; PUNP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000261", "id": "NP_000261" }, { "name": "NP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P00491", "id": "P00491" }, { "name": "PNP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000261", "id": "NP_000261" } ], "protein_names": [ { "name": "Purine nucleoside phosphorylase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P00491" }, { "name": "2.4.2.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00491" }, { "name": "Inosine phosphorylase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00491" }, { "name": "Inosine-guanosine phosphorylase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00491" }, { "name": "PNP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00491" }, { "name": "inosine phosphorylase; purine-nucleoside:orthophosphate ribosyltransferase; HEL-S-156an; inosine-guanosine phosphorylase; epididymis secretory sperm binding protein Li 156an", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000261", "id": "NP_000261" }, { "name": "purine nucleoside phosphorylase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000261", "id": "NP_000261" } ], "function": [ { "annotation": "A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma.", "evidence": [ { "database": "RefSeq", "id": "NP_000261", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000261" }, { "database": "PubMed", "id": "32514656", "url": "https://glygen.org/publication/PubMed/32514656" } ] }, { "annotation": "Catalyzes the phosphorolytic breakdown of the N-glycosidic bond in the beta-(deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and pentose-1-phosphate (PubMed:9305964, PubMed:23438750). Preferentially acts on 6-oxopurine nucleosides including inosine and guanosine (PubMed:9305964).", "evidence": [ { "database": "UniProtKB", "id": "P00491", "url": "https://www.uniprot.org/uniprot/P00491#function" }, { "database": "PubMed", "id": "9305964", "url": "https://glygen.org/publication/PubMed/9305964" }, { "database": "PubMed", "id": "23438750", "url": "https://glygen.org/publication/PubMed/23438750" } ] }, { "annotation": "Connecting Conformational Motions to Rapid Dynamics in Human Purine Nucleoside Phosphorylase.", "evidence": [ { "database": "RefSeq", "id": "NP_000261", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000261" }, { "database": "PubMed", "id": "36538016", "url": "https://glygen.org/publication/PubMed/36538016" } ] }, { "annotation": "The purine nucleoside phosphorylases catalyze the phosphorolytic breakdown of the N-glycosidic bond in the beta-(deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and pentose-1-phosphate.", "evidence": [ { "database": "UniProtKB", "id": "G3V5M2", "url": "https://www.uniprot.org/uniprot/G3V5M2#function" }, { "database": "UniProtKB", "id": "PIRNR000477", "url": "https://www.uniprot.org/uniprot/PIRNR000477#function" } ] }, { "annotation": "This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000261", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000261" } ] } ], "disease": [ { "disease_id": "DOID:5813", "recommended_name": { "id": "DOID:5813", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5813", "name": "purine nucleoside phosphorylase deficiency", "description": "A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has_material_basis_in mutation in the PNP gene and characterized mainly by decreased T-cell function." }, "synonyms": [ { "id": "DOID:5813", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5813", "name": "PNP deficiency", "description": "" }, { "id": "DOID:5813", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5813", "name": "Purine-Nucleoside Phosphorylase deficiency", "description": "" }, { "id": "DOID:5813", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5813", "name": "deficiency of inosine phosphorylase", "description": "" }, { "id": "MONDO:0013171", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013171", "name": "purine nucleoside phosphorylase deficiency", "description": "Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations." }, { "id": "MONDO:0013171", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013171", "name": "PNP deficiency", "description": "" }, { "id": "MONDO:0013171", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013171", "name": "PNPase deficiency", "description": "" }, { "id": "MONDO:0013171", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013171", "name": "deficiency of inosine phosphorylase", "description": "" }, { "id": "MONDO:0013171", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013171", "name": "immunodeficiency due to purine nucleoside phosphorylase deficiency", "description": "" }, { "id": "MONDO:0013171", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013171", "name": "purine nucleoside phosphorylase deficiency", "description": "" }, { "id": "MONDO:0013171", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013171", "name": "purine-nucleoside phosphorylase deficiency", "description": "" }, { "id": "MONDO:0013171", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013171", "name": "nucleoside phosphorylase deficiency", "description": "" }, { "id": "MIM:613179", "resource": "MIM", "url": "https://www.omim.org/entry/613179", "name": "Purine nucleoside phosphorylase deficiency", "description": "Purine nucleoside phosphorylase deficiency" } ], "evidence": [ { "id": "613179", "database": "MIM", "url": "https://www.omim.org/entry/613179" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 201, "end_pos": 201, "sequence_org": "E", "sequence_mut": "A", "comment": "Severe loss of catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "P00491", "url": "https://www.uniprot.org/uniprot/P00491" }, { "database": "PubMed", "id": "9305964", "url": "https://glygen.org/publication/PubMed/9305964" } ] }, { "start_pos": 201, "end_pos": 201, "sequence_org": "E", "sequence_mut": "Q", "comment": "Severe loss of catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "P00491", "url": "https://www.uniprot.org/uniprot/P00491" }, { "database": "PubMed", "id": "9305964", "url": "https://glygen.org/publication/PubMed/9305964" } ] }, { "start_pos": 243, "end_pos": 243, "sequence_org": "N", "sequence_mut": "A", "comment": "Reduces catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "P00491", "url": "https://www.uniprot.org/uniprot/P00491" }, { "database": "PubMed", "id": "9305964", "url": "https://glygen.org/publication/PubMed/9305964" } ] }, { "start_pos": 243, "end_pos": 243, "sequence_org": "N", "sequence_mut": "D", "comment": "Reduces catalytic activity towards inosine, hypoxanthine, guanosine and guanine. Increases catalytic activity towards adenosine and adenine.", "evidence": [ { "database": "UniProtKB", "id": "P00491", "url": "https://www.uniprot.org/uniprot/P00491" }, { "database": "PubMed", "id": "9305964", "url": "https://glygen.org/publication/PubMed/9305964" } ] }, { "start_pos": 257, "end_pos": 257, "sequence_org": "H", "sequence_mut": "W", "comment": "Reduces catalytic activity towards inosine.", "evidence": [ { "database": "UniProtKB", "id": "P00491", "url": "https://www.uniprot.org/uniprot/P00491" }, { "database": "PubMed", "id": "23438750", "url": "https://glygen.org/publication/PubMed/23438750" } ] }, { "start_pos": 64, "end_pos": 64, "sequence_org": "H", "sequence_mut": "W", "comment": "Reduces catalytic activity towards inosine.", "evidence": [ { "database": "UniProtKB", "id": "P00491", "url": "https://www.uniprot.org/uniprot/P00491" }, { "database": "PubMed", "id": "23438750", "url": "https://glygen.org/publication/PubMed/23438750" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "96.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198805", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198805" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "88.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198805", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198805" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198805", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198805" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000198805", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198805" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "90.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198805", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198805" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "96.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198805", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198805" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "71.22", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198805", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198805" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "77.14", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198805", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198805" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "86.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198805", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198805" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "75.06", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198805", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198805" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "87.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198805", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198805" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "82.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198805", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198805" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "88.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198805", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198805" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P00491", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00491" } ], "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 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"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": 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}, { "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", 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"url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P00491", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00491" } ], "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", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P00491", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00491" } ], "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": "P00491", "url": 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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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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P00491", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00491" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00491" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"MENGYTYEDYKNTAEWLLSHTKHRPQVAIICGSGLGGLTDKLTQAQIFDYGEIPNFPRSTVPGHAGRLVFGFLNGRACVMMQGRFHMYEGYPLWKVTFPVRVFHLLGVDTLVVTNAAGGLNPKFEVGDIMLIRDHINLPGFSGQNPLRGPNDERFGDRFPAMSDAYDRTMRQRALSTWKQMGEQRELQEGTYVMVAGPSFETVAECRVLQKLGADAVGMSTVPEVIVARHCGLRVFGFSLITNKVIMDYESLEKANHEEVLAAGKQAAQKLEQFVSILMASIPLPDKAS", "length": 289, "header": "sp|P00491-1|PNPH_HUMAN Isoform 1 of Purine nucleoside phosphorylase OS=Homo sapiens OX=9606 GN=PNP PE=1 SV=2 CANONICAL=P00491-1" }, "isoforms": [ { "isoform_ac": "A0A8V8TL37-1", "url": "", "sequence": { "sequence": "MMQGRFHMYEGYPLWKVTFPVRVFHLLGVDTLVVTNAAGGLNPKFEVGDIMLIRDHINLPGFSGQNPLRGPNDERFGDRFPAMSDAYDRTMRQRALSTWKQMGEQRELQEGTYVMVAGPSFETVAECRVLQKLGADAVGMSTVPEVIVARHCGLRVFGFSLITNKVIMDYESLEKANHEEVLAAGKQAAQKLEQFVSILMASIPLPDKAS", "length": 210, "header": "tr|A0A8V8TL37-1|PNPH_HUMAN Computationally mapped isoform of Purine nucleoside phosphorylase OS=Homo sapiens OX=9606 GN=PNP PE=1 SV=1 CANONICAL=P00491-1" }, "locus": { "chromosome": "14", "start_pos": 20476598, "end_pos": 20474528, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697614.1", "url": "https://www.ensembl.org/id/ENST00000697614.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513360.1", "url": "https://www.ensembl.org/id/ENSP00000513360.1" } ] } }, { "isoform_ac": "G3V2H3-1", "url": "", "sequence": { "sequence": "MENGYTYEDYKNTAEWLLSHTKHRPQVAIICGSGLGGLTDKLTQAQIFDYGEIPNFPRSTVPGHAGRLVFGFLNGRACVMMQGRFHMYEGYPL", "length": 93, "header": "tr|G3V2H3-1|G3V2H3_HUMAN Computationally mapped isoform of Purine nucleoside phosphorylase OS=Homo sapiens OX=9606 GN=PNP PE=1 SV=1 CANONICAL=P00491-1" }, "locus": { "chromosome": "14", "start_pos": 20474569, "end_pos": 20469525, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000553418.5", "url": "https://www.ensembl.org/id/ENST00000553418.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000450663.1", "url": "https://www.ensembl.org/id/ENSP00000450663.1" } ] } }, { "isoform_ac": "G3V393-1", "url": "", "sequence": { "sequence": "MMQGRFHMYEGYPLWKVTFPVRVFHLLGVDTLVVTNAAGGLNPKFEVGDIMLIRDHINLPG", "length": 61, "header": "tr|G3V393-1|PNPH_HUMAN Computationally mapped isoform of Purine nucleoside phosphorylase OS=Homo sapiens OX=9606 GN=PNP PE=1 SV=1 CANONICAL=P00491-1" }, "locus": { "chromosome": "14", "start_pos": 20474907, "end_pos": 20474528, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000554065.1", "url": "https://www.ensembl.org/id/ENST00000554065.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000451108.1", "url": "https://www.ensembl.org/id/ENSP00000451108.1" } ] } }, { "isoform_ac": "G3V5M2-1", "url": "", "sequence": { "sequence": "MQRGLALSLVSGARRQSHAAASAGRDARGNRAGVAPPEQEGDRYTYEDYKNTAEWLLSHTKHRPQVAIICGSGLGGLTDKLTQAQIFDYGEIPNFPRSTVPGHAGRLVFGFLNGRACVMMQGRFHMYEGYPLWKVTFPVRVFHLLGVDTLVVTNAAGGLNPKFEVGDIMLIRDHINLPGFSGQNPLRGPNDERFGDRFPAMSDAYDRTMRQRALSTWKQMGEQRELQEGTYVMVAGPSFETVAECRVLQKLGADAVGMSTVPEVIVARHCGLRVFGFSLITNKVIMDYESLEKANHEEVLAAGKQAAQKLEQFVSILMASIPLPDKAS", "length": 328, "header": "tr|G3V5M2-1|PNPH_HUMAN Computationally mapped isoform of Purine nucleoside phosphorylase OS=Homo sapiens OX=9606 GN=PNP PE=1 SV=2 CANONICAL=P00491-1" }, "locus": { "chromosome": "14", "start_pos": 20476598, "end_pos": 20469648, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000553591.2", "url": "https://www.ensembl.org/id/ENST00000553591.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000452421.2", "url": "https://www.ensembl.org/id/ENSP00000452421.2" } ] } }, { "isoform_ac": "P00491-1", "url": "", "sequence": { "sequence": "MENGYTYEDYKNTAEWLLSHTKHRPQVAIICGSGLGGLTDKLTQAQIFDYGEIPNFPRSTVPGHAGRLVFGFLNGRACVMMQGRFHMYEGYPLWKVTFPVRVFHLLGVDTLVVTNAAGGLNPKFEVGDIMLIRDHINLPGFSGQNPLRGPNDERFGDRFPAMSDAYDRTMRQRALSTWKQMGEQRELQEGTYVMVAGPSFETVAECRVLQKLGADAVGMSTVPEVIVARHCGLRVFGFSLITNKVIMDYESLEKANHEEVLAAGKQAAQKLEQFVSILMASIPLPDKAS", "length": 289, "header": "sp|P00491-1|PNPH_HUMAN Isoform 1 of Purine nucleoside phosphorylase OS=Homo sapiens OX=9606 GN=PNP PE=1 SV=2 CANONICAL=P00491-1" }, "locus": { "chromosome": "HG2526_HG2573_PATCH", "start_pos": 679279, "end_pos": 672206, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000708857.1", "url": "https://www.ensembl.org/id/ENST00000708857.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000517386.1", "url": "https://www.ensembl.org/id/ENSP00000517386.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P00491", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P00491" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "36580660", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36580660" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" } ] } ], "phosphorylation": [ { "start_pos": 251, "end_pos": 251, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P00491", "url": "https://www.uniprot.org/uniprot/P00491" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P00491", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00491" } ], "site_lbl": "Ser251" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Cloning and characterization of human guanine deaminase. Purification and partial amino acid sequence of the mouse protein.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Yuan G, Bin JC, McKay DJ, Snyder FF", "evidence": [ { "database": "Reactome", "id": "R-HSA-74259", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74259" } ], "reference": [ { "type": "PubMed", "id": "10075721", "url": "https://glygen.org/publication/PubMed/10075721" } ] }, { "title": "The mechanism of adenosine formation in cells. Cloning of cytosolic 5'-nucleotidase-I.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Sala-Newby GB, Skladanowski AC, Newby AC", "evidence": [ { "database": "Reactome", "id": "R-HSA-74259", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74259" } ], "reference": [ { "type": "PubMed", "id": "10364222", "url": "https://glygen.org/publication/PubMed/10364222" } ] }, { "title": "Mammalian 5'(3')-deoxyribonucleotidase, cDNA cloning, and overexpression of the enzyme in Escherichia coli and mammalian cells.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Rampazzo C, Johansson M, Gallinaro L, Ferraro P, Hellman U, Karlsson A, Reichard P, Bianchi V", "evidence": [ { "database": "Reactome", "id": "R-HSA-74259", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74259" } ], "reference": [ { "type": "PubMed", "id": "10681516", "url": "https://glygen.org/publication/PubMed/10681516" } ] }, { "title": "Distinct roles for recombinant cytosolic 5'-nucleotidase-I and -II in AMP and IMP catabolism in COS-7 and H9c2 rat myoblast cell lines.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Sala-Newby GB, Freeman NV, Skladanowski AC, Newby AC", "evidence": [ { "database": "Reactome", "id": "R-HSA-74259", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74259" } ], "reference": [ { "type": "PubMed", "id": "10766785", "url": "https://glygen.org/publication/PubMed/10766785" } ] }, { "title": "Cytosolic high K(m) 5'-nucleotidase and 5'(3')-deoxyribonucleotidase in substrate cycles involved in nucleotide metabolism.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Gazziola C, Ferraro P, Moras M, Reichard P, Bianchi V", "evidence": [ { "database": "Reactome", "id": "R-HSA-74259", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74259" } ], "reference": [ { "type": "PubMed", "id": "11083867", "url": "https://glygen.org/publication/PubMed/11083867" } ] }, { "title": "Human cytosolic 5'-nucleotidase I: characterization and role in nucleoside analog resistance.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Hunsucker SA, Spychala J, Mitchell BS", "evidence": [ { "database": "Reactome", "id": "R-HSA-74259", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74259" } ], "reference": [ { "type": "PubMed", "id": "11133996", "url": "https://glygen.org/publication/PubMed/11133996" } ] }, { "title": "Cloning, expression, and characterization of a human inosine triphosphate pyrophosphatase encoded by the itpa gene.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Lin S, McLennan AG, Ying K, Wang Z, Gu S, Jin H, Wu C, Liu W, Yuan Y, Tang R, Xie Y, Mao Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-74259", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74259" } ], "reference": [ { "type": "PubMed", "id": "11278832", "url": "https://glygen.org/publication/PubMed/11278832" } ] }, { "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": "Cloning of a mouse cytosolic 5'-nucleotidase-I identifies a new gene related to human autoimmune infertility-related protein.", "journal": "Biochimica et biophysica acta", "date": "2001", "authors": "Sala-Newby GB, Newby AC", "evidence": [ { "database": "Reactome", "id": "R-HSA-74259", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74259" } ], "reference": [ { "type": "PubMed", "id": "11690631", "url": "https://glygen.org/publication/PubMed/11690631" } ] }, { "title": "NADPH-dependent GMP reductase isoenzyme of human (GMPR2). 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"id": "P00491", "url": "https://www.uniprot.org/uniprot/P00491" } ], "pmid": "" }, { "name": "inosine catabolic process", "id": "GO:0006148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006148", "evidence": [ { "database": "UniProtKB", "id": "P00491", "url": "https://www.uniprot.org/uniprot/P00491" } ], "pmid": "" }, { "name": "nicotinamide riboside catabolic process", "id": "GO:0006738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006738", "evidence": [ { "database": "UniProtKB", "id": "P00491", "url": "https://www.uniprot.org/uniprot/P00491" } ], "pmid": "" }, { "name": "urate biosynthetic process", "id": "GO:0034418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034418", "evidence": [ { "database": "UniProtKB", "id": "P00491", "url": "https://www.uniprot.org/uniprot/P00491" } ], "pmid": "" }, { "name": "nucleotide biosynthetic process", "id": "GO:0009165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009165", "evidence": [ { "database": "UniProtKB", "id": "P00491", "url": "https://www.uniprot.org/uniprot/P00491" } ], "pmid": "" }, { "name": "deoxyinosine catabolic process", "id": "GO:0006149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006149", "evidence": [ { "database": "UniProtKB", "id": "P00491", "url": "https://www.uniprot.org/uniprot/P00491" } ], "pmid": "" }, { "name": "dAMP catabolic process", "id": "GO:0046059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046059", "evidence": [ { "database": "UniProtKB", "id": "P00491", "url": "https://www.uniprot.org/uniprot/P00491" } ], "pmid": "" }, { "name": "IMP catabolic process", "id": "GO:0006204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006204", "evidence": [ { "database": "UniProtKB", "id": "P00491", "url": "https://www.uniprot.org/uniprot/P00491" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "purine-nucleoside phosphorylase activity", "id": "GO:0004731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004731", "evidence": [ { "database": "UniProtKB", "id": "P00491", "url": "https://www.uniprot.org/uniprot/P00491" } ], "pmid": "" }, { "name": "phosphate ion binding", "id": "GO:0042301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042301", "evidence": [ { "database": "UniProtKB", "id": "P00491", "url": "https://www.uniprot.org/uniprot/P00491" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P00491", "url": "https://www.uniprot.org/uniprot/P00491" } ], "pmid": "" }, { "name": "nucleoside binding", "id": "GO:0001882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001882", "evidence": [ { "database": "UniProtKB", "id": "P00491", "url": "https://www.uniprot.org/uniprot/P00491" } ], "pmid": "" }, { "name": "purine nucleobase binding", "id": "GO:0002060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002060", "evidence": [ { "database": "UniProtKB", "id": "P00491", "url": "https://www.uniprot.org/uniprot/P00491" } ], "pmid": "" }, { "name": "guanosine phosphorylase activity", "id": "GO:0047975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047975", "evidence": [ { "database": "UniProtKB", "id": "P00491", "url": "https://www.uniprot.org/uniprot/P00491" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "13233", "name": "", "equation": "guanosine + phosphate = alpha-D-ribose 1-phosphate + guanine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P85973-1", "A0A8I6ANK1-1", "P00491-1", "Q8IV20-1", "P23492-1", "Q9D8C9-1", "Q8BZT9-1", "M9PE19-1", "Q9W1K6-1" ], "evidence": [ { "id": "13233", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/13233" } ] }, { "id": "27646", "name": "", "equation": "inosine + phosphate = alpha-D-ribose 1-phosphate + hypoxanthine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P85973-1", "A0A8I6ANK1-1", "P00491-1", "Q8IV20-1", "P23492-1", "Q9D8C9-1", "Q8BZT9-1", "M9PE19-1", "Q9W1K6-1" ], "evidence": [ { "id": "27646", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/27646" } ] }, { "id": "27738", "name": "", "equation": "2'-deoxyguanosine + phosphate = 2-deoxy-alpha-D-ribose 1-phosphate + guanine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P85973-1", "A0A8I6ANK1-1", "P00491-1", "P23492-1", "Q9D8C9-1", "M9PE19-1", "Q9W1K6-1" ], "evidence": [ { "id": "27738", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/27738" } ] }, { "id": "27750", "name": "", "equation": "2'-deoxyinosine + phosphate = 2-deoxy-alpha-D-ribose 1-phosphate + hypoxanthine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P85973-1", "A0A8I6ANK1-1", "P00491-1", "P23492-1", "Q9D8C9-1", "M9PE19-1", "Q9W1K6-1" ], "evidence": [ { "id": "27750", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/27750" } ] }, { "id": "R-HSA-112033", "name": "PNP catalyzes the conversion of hypoxanthine and (deoxy)ribose to (deoxy)inosine", "equation": "", "summary": "Cytosolic purine nucleoside phosphorylase (PNP) trimer catalyzes the reversible reaction of hypoxanthine with ribose 1-phosphate or deoxyribose 1-phosphate to form inosine or deoxyinosine and orthophosphate (Ealick et al. 1990; Wiginton et al. 1980). While PNP is active with either ribose 1-phosphate or deoxyribose 1-phosphate in vitro, levels of deoxyribose 1-phosphate are normally low in vivo, limiting the extent of this reaction. PNP deficiency in vivo is associated with defects in purine metabolism and leads to immunodeficiency (Williams et al. 1987).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00491-1" ], "evidence": [ { "id": "R-HSA-112033", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-112033" } ] }, { "id": "R-HSA-112034", "name": "PNP catalyzes the conversion of guanine and (deoxy)ribose to (deoxy)guanosine", "equation": "", "summary": "Cytosolic purine nucleoside phosphorylase (PNP) trimer catalyzes the reversible reaction of guanine with ribose 1-phosphate or deoxyribose 1-phosphate to form guanosine or deoxyguanosine and orthophosphate (Ealick et al. 1990; Wiginton et al. 1980). While PNP is active with either ribose 1-phosphate or deoxyribose 1-phosphate in vitro, levels of deoxyribose 1-phosphate are normally low in vivo, limiting the extent of this reaction. PNP deficiency in vivo is associated with defects in purine metabolism and leads to immunodeficiency (Williams et al. 1987).", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-83956" ], "output_participant_list": [], "enzyme_list": [ "P00491-1" ], "evidence": [ { "id": "R-HSA-112034", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-112034" } ] }, { "id": "R-HSA-6798748", "name": "Exocytosis of secretory granule lumen proteins", "equation": "", "summary": "Secretory vesicles provide a reservoir of secreted proteins and membrane-associated receptors that are required at the earliest stages of the neutrophil-mediated inflammatory response. They are mobilized in response to a wide variety of inflammatory stimuli (Sengelov et al. 1993a,b). Resultant cell surface changes allow the neutrophil to establish firm contact with activated vascular epithelium (Faurschou & Borregaard 2003).", "cellular_location": "extracellular region, secretory granule lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P18669-1", "Q13464-1", "P32320-1", "P09917-1", "O00487-1", "P13639-1", "P12268-1", "P62937-1", "Q96G03-1", "P68402-1", "Q99436-1", "P55072-1", "P68104-1", "P11142-1", "Q9Y315-1", "P13010-1", "P04075-1", "P09972-1", "P07900-1", "P09769-1", "P09211-1", "Q16539-1", "P14618-1", "P07741-1", "Q01432-1", "P12956-1", "Q7Z6Z7-1", "Q9UNP9-1", "P14174-1", "P04040-1", "O00571-1", "P06744-1", "P52790-1", "P11678-1", "P00491-1", "P06737-1", "P00746-1", "Q13162-1", "P17858-1", "P46976-1", "P22392-1", "P13716-1", "O75874-1", "P20839-1", "O00764-1" ], "evidence": [ { "id": "R-HSA-6798748", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798748" } ] }, { "id": "R-HSA-6800434", "name": "Exocytosis of ficolin-rich granule lumen proteins", "equation": "", "summary": "Ficoli-1 rich granules are a relatively new fourth neutrophil granule population that is enriched in the microbial lectin ficolin-1. Ficolin-1 is present in tertiary granules, but ficolin-1 rich granules can be differentiated by having low levels of gelatinases and an elevated exocytosis propensity (Rorvig et al. 2009, 2013). The importance of these granules may be to provide rapid release of pattern recognition molecules to activate the lectin complement pathway (Rorvig et al. 2009).", "cellular_location": "extracellular region, ficolin-1-rich granule lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9UBR2-1", "P18669-1", "P32320-1", "P09917-1", "O00487-1", "P13639-1", "P12268-1", "P62937-1", "P15586-1", "Q96G03-1", "Q9P0J7-1", "P68402-1", "P36871-1", "Q99436-1", "P07339-1", "P13798-1", "P53396-1", "P55072-1", "P68104-1", "P11142-1", "Q9Y315-1", "P04075-1", "P09972-1", "P07900-1", "P09211-1", "Q16539-1", "P07858-1", "P14618-1", "P28482-1", "Q01432-1", "P12956-1", "Q7Z6Z7-1", "Q9UNP9-1", "Q13510-1", "P14174-1", "P15848-1", "P16278-1", "Q8WVQ1-1", "P04040-1", "O00571-1", "P14780-1", "P06744-1", "P52790-1", "P00491-1", "P06737-1", "Q16769-1", "P08236-1", "P02794-1", "P07384-1", "Q14004-1", "P00746-1", "P98066-1", "P25774-1", "Q13162-1", "P17858-1", "P46976-1", "P09960-1", "P22392-1", "P13716-1", "O75874-1", "P20839-1" ], "evidence": [ { "id": "R-HSA-6800434", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6800434" } ] }, { "id": "R-HSA-74242", "name": "PNP catalyzes the conversion of (deoxy)inosine to hypoxanthine and (deoxy)ribose", "equation": "", "summary": "Cytosolic purine nucleoside phosphorylase (PNP) trimer catalyzes the reversible reaction of inosine or deoxyinosine with orthophosphate to form hypoxanthine and ribose 1-phosphate or deoxyribose 1-phosphate (Ealick et al. 1990; Wiginton et al. 1980). While PNP is active with either nucleotide in vitro, levels of deoxyinosine are normally low in vivo, limiting the extent of this reaction. PNP deficiency in vivo is associated with accumulation of inosine and deoxyinosine and leads to immunodeficiency (Williams et al. 1987).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00491-1" ], "evidence": [ { "id": "R-HSA-74242", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74242" } ] }, { "id": "R-HSA-74249", "name": "PNP catalyzes the conversion of (deoxy)guanosine to guanine and (deoxy)ribose", "equation": "", "summary": "Cytosolic purine nucleoside phosphorylase (PNP) trimer catalyzes the reversible reaction of guanosine or deoxyguanosine with orthophosphate to form guanine and ribose 1-phosphate or deoxyribose 1-phosphate (Ealick et al. 1990; Wiginton et al. 1980). PNP deficiency in vivo is associated with accumulation of guanosine and deoxyguanosine and leads to immunodeficiency (Williams et al. 1987).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00491-1" ], "evidence": [ { "id": "R-HSA-74249", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74249" } ] }, { "id": "R-HSA-9735775", "name": "Defective PNP does not convert (deoxy)inosine to hypoxanthine and (deoxy)ribose", "equation": "", "summary": "Normally in humans, PNP (purine nucleotide phosphorylase) catalyzes the reaction of (deoxy)inosine with phosphate to yield hypoxanthine and (deoxy)ribose. In the absence of PNP activity, however, inosine and deoxyinosine accumulate. Here, we have annotated the failure of this reaction due to three missense mutant alleles of PNP, identified in patients with severe immunodeficiency and shown to encode catalytically inactive forms of PNP protein (Aust et al. 1992; Williams et al. 1987).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00491-1" ], "evidence": [ { "id": "R-HSA-9735775", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9735775" } ] }, { "id": "R-HSA-9735789", "name": "Defective PNP does not convert (deoxy)guanosine to guanine and (deoxy)ribose", "equation": "", "summary": "Normally in humans, PNP (purine nucleotide phosphorylase) catalyzes the reaction of (deoxy)guanosine with phosphate to yield guanine and (deoxy)ribose. In the absence of PNP activity, however, guanosine and deoxyguanosine accumulate and the formation of deoxy-GTP from the latter is thought to disrupt DNA replication especially in lymphoid cells, leading to severe immunodeficiency. Here, we have annotated the failure of this reaction due to three missense mutant alleles of PNP, identified in patients with severe immunodeficiency and shown to encode catalytically inactive forms of PNP protein (Aust et al. 1992; Williams et al. 1987).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00491-1" ], "evidence": [ { "id": "R-HSA-9735789", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9735789" } ] }, { "id": "R-HSA-9755044", "name": "PNP trimer transforms RBV to T-CONH2", "equation": "", "summary": "Significant amounts of ribavirin (RBV) are phosphorolyzed to 1,2,4-triazole-3-carboxamide (T-CONH2), already in the first pass through intestinal cells. The responsible enzyme purine nucleoside phosphorylase (PNP) is expressed in higher amounts in the small intestine than in the liver, which also correlates with higher cytosolic phosphorolysis activity in intestinal cells. The amount of conversion to T-CONH2 in the liver is additionally reduced by phosphorylation of RBV to RBV-MP. T-CONH2 from this reaction is the major metabolite detectable in urine (Paroni et al, 1989; Furihata et al, 2014).", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-9755011" ], "output_participant_list": [ "R-ALL-9754909" ], "enzyme_list": [ "P00491-1" ], "evidence": [ { "id": "R-HSA-9755044", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9755044" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-83956", "participant_name": "Gua [cytosol]", "crossref": [ { "id": "C00242", "database": "COMPOUND", "url": "" }, { "id": "16235", "database": "ChEBI", "url": "" }, { "id": "HMDB0000132", "database": "HMDB Metabolite", "url": "" }, { "id": "8145637", "database": "PubChem Substance", "url": "" }, { "id": "4556", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "000000895129", "database": "ZINC", "url": "" }, { "id": "C00242", "database": "COMPOUND", "url": "" }, { "id": "16235", "database": "ChEBI", "url": "" }, { "id": "HMDB0000132", "database": "HMDB Metabolite", "url": "" }, { "id": "8145637", "database": "PubChem Substance", "url": "" }, { "id": "4556", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "000000895129", "database": "ZINC", "url": "" }, { "id": "16235", "database": "ChEBI", "url": "" }, { "id": "000000895129", "database": "ZINC", "url": "" }, { "id": "8145637", "database": "PubChem Substance", "url": "" }, { "id": "C00242", "database": "COMPOUND", "url": "" }, { "id": "4556", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "HMDB0000132", "database": "HMDB Metabolite", "url": "" }, { "id": "C00242", "database": "COMPOUND", "url": "" }, { "id": "16235", "database": "ChEBI", "url": "" }, { "id": "HMDB0000132", "database": "HMDB Metabolite", "url": "" }, { "id": "8145637", "database": "PubChem Substance", "url": "" }, { "id": "4556", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "000000895129", "database": "ZINC", "url": "" }, { "id": "C00242", "database": "COMPOUND", "url": "" }, { "id": "16235", "database": "ChEBI", "url": "" }, { "id": "HMDB0000132", "database": "HMDB Metabolite", "url": "" }, { "id": "8145637", "database": "PubChem Substance", "url": "" }, { "id": "4556", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "000000895129", "database": "ZINC", "url": "" }, { "id": "16235", "database": "ChEBI", "url": "" }, { "id": "8145637", "database": "PubChem Substance", "url": "" }, { "id": "000000895129", "database": "ZINC", "url": "" }, { "id": "HMDB0000132", "database": "HMDB Metabolite", "url": "" }, { "id": "C00242", "database": "COMPOUND", "url": "" }, { "id": "4556", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "C00242", "database": "COMPOUND", "url": "" }, { "id": "16235", "database": "ChEBI", "url": "" }, { "id": "HMDB0000132", "database": "HMDB Metabolite", "url": "" }, { "id": "8145637", "database": "PubChem Substance", "url": "" }, { "id": "4556", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "000000895129", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-ALL-9754909", "participant_name": "T-CONH2 [cytosol]", "crossref": [ { "id": "180482", "database": "ChEBI", "url": "" }, { "id": "180482", "database": "ChEBI", "url": "" }, { "id": "180482", "database": "ChEBI", "url": "" }, { "id": "180482", "database": "ChEBI", "url": "" }, { "id": "180482", "database": "ChEBI", "url": "" }, { "id": "180482", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-9755011", "participant_name": "phosphate [cytosol]", "crossref": [ { "id": "18367", "database": "ChEBI", "url": "" }, { "id": "C00009", "database": "COMPOUND", "url": "" }, { "id": "8144764", "database": "PubChem Substance", "url": "" }, { "id": "18367", "database": "ChEBI", "url": "" }, { "id": "C00009", "database": "COMPOUND", "url": "" }, { "id": "8144764", "database": "PubChem Substance", "url": "" }, { "id": "18367", "database": "ChEBI", "url": "" }, { "id": "C00009", "database": "COMPOUND", "url": "" }, { "id": "8144764", "database": "PubChem Substance", "url": "" }, { "id": "C00009", "database": "COMPOUND", "url": "" }, { "id": "8144764", "database": "PubChem Substance", "url": "" }, { "id": "18367", "database": "ChEBI", "url": "" }, { "id": "18367", "database": "ChEBI", "url": "" }, { "id": "C00009", "database": "COMPOUND", "url": "" }, { "id": "8144764", "database": "PubChem Substance", "url": "" }, { "id": "C00009", "database": "COMPOUND", "url": "" }, { "id": "18367", "database": "ChEBI", "url": "" }, { "id": "8144764", "database": "PubChem Substance", "url": "" }, { "id": "8144764", "database": "PubChem Substance", "url": "" }, { "id": "18367", "database": "ChEBI", "url": "" }, { "id": "C00009", "database": "COMPOUND", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "A0A8I6ANK1", "gene_name": "ENSRNOG00000063999", "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": "A0A8I6ANK1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6ANK1" } ] }, { "ec_number": "2.4.2.1", "activity": "", "evidence": [ { "id": "A0A8I6ANK1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6ANK1" } ] } ] }, { "uniprot_ac": "M9PE19", "gene_name": "CG16760", "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": "M9PE19", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/M9PE19" } ] }, { "ec_number": "2.4.2.1", "activity": "", "evidence": [ { "id": "M9PE19", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/M9PE19" } ] } ] }, { "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": "P02794", "gene_name": "FTH1", "activity": [ { "ec_number": "1.16.3.1", "activity": "4 Fe(2+) + 4 H(+) + O2 = 4 Fe(3+) + 2 H2O.", "evidence": [ { "id": "P02794", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02794" } ] }, { "ec_number": "1.16.3.1", "activity": "", "evidence": [ { "id": "P02794", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02794" } ] } ] }, { "uniprot_ac": "P04040", "gene_name": "CAT", "activity": [ { "ec_number": "1.11.1.6", "activity": "2 H2O2 = 2 H2O + O2.", "evidence": [ { "id": "P04040", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04040" } ] }, { "ec_number": "1.11.1.6", "activity": "", "evidence": [ { "id": "P04040", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04040" } ] } ] }, { "uniprot_ac": "P04075", "gene_name": "ALDOA", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P04075", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04075" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P04075", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04075" } ] } ] }, { "uniprot_ac": "P06737", "gene_name": "PYGL", "activity": [ { "ec_number": "2.4.1.1", "activity": "[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate.", "evidence": [ { "id": "P06737", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06737" } ] }, { "ec_number": "2.4.1.1", "activity": "", "evidence": [ { "id": "P06737", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06737" } ] } ] }, { "uniprot_ac": "P06744", "gene_name": "GPI", "activity": [ { "ec_number": "5.3.1.9", "activity": "alpha-D-glucose 6-phosphate = beta-D-fructose 6-phosphate.", "evidence": [ { "id": "P06744", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06744" } ] }, { "ec_number": "5.3.1.9", "activity": "", "evidence": [ { "id": "P06744", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06744" } ] } ] }, { "uniprot_ac": "P07339", "gene_name": "CTSD", "activity": [ { "ec_number": "3.4.23.5", "activity": "Specificity similar to, but narrower than, that of pepsin A. Does not cleave the 4-Gln-|-His-5 bond in B chain of insulin.", "evidence": [ { "id": "P07339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07339" } ] }, { "ec_number": "3.4.23.5", "activity": "", "evidence": [ { "id": "P07339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07339" } ] } ] }, { "uniprot_ac": "P07384", "gene_name": "CAPN1", "activity": [ { "ec_number": "3.4.22.52", "activity": "Broad endopeptidase specificity.", "evidence": [ { "id": "P07384", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07384" } ] }, { "ec_number": "3.4.22.52", "activity": "", "evidence": [ { "id": "P07384", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07384" } ] } ] }, { "uniprot_ac": "P07741", "gene_name": "APRT", "activity": [ { "ec_number": "2.4.2.7", "activity": "AMP + diphosphate = 5-phospho-alpha-D-ribose 1-diphosphate + adenine.", "evidence": [ { "id": "P07741", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07741" } ] }, { "ec_number": "2.4.2.7", "activity": "", "evidence": [ { "id": "P07741", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07741" } ] } ] }, { "uniprot_ac": "P07858", "gene_name": "CTSB", "activity": [ { "ec_number": "3.4.22.1", "activity": "Hydrolysis of proteins with broad specificity for peptide bonds. Preferentially cleaves -Arg-Arg-|-Xaa bonds in small molecule substrates (thus differing from cathepsin L). In addition to being an endopeptidase, shows peptidyl-dipeptidase activity, liberating C-terminal dipeptides.", "evidence": [ { "id": "P07858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07858" } ] }, { "ec_number": "3.4.22.1", "activity": "", "evidence": [ { "id": "P07858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07858" } ] } ] }, { "uniprot_ac": "P07900", "gene_name": "HSP90AA1", "activity": [ { "ec_number": "3.6.4.10", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P07900", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07900" } ] }, { "ec_number": "3.6.4.10", "activity": "", "evidence": [ { "id": "P07900", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07900" } ] } ] }, { "uniprot_ac": "P08236", "gene_name": "GUSB", "activity": [ { "ec_number": "3.2.1.31", "activity": "a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate.", "evidence": [ { "id": "P08236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08236" } ] }, { "ec_number": "3.2.1.31", "activity": "", "evidence": [ { "id": "P08236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08236" } ] } ] }, { "uniprot_ac": "P09211", "gene_name": "GSTP1", "activity": [ { "ec_number": "2.5.1.18", "activity": "glutathione + RX = a halide anion + an S-substituted glutathione + H(+).", "evidence": [ { "id": "P09211", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09211" } ] }, { "ec_number": "2.5.1.18", "activity": "", "evidence": [ { "id": "P09211", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09211" } ] } ] }, { "uniprot_ac": "P09769", "gene_name": "FGR", "activity": [ { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P09769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09769" } ] }, { "ec_number": "2.7.10.2", "activity": "", "evidence": [ { "id": "P09769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09769" } ] } ] }, { "uniprot_ac": "P09917", "gene_name": "ALOX5", "activity": [ { "ec_number": "1.13.11.-", "activity": "", "evidence": [ { "id": "P09917", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09917" } ] }, { "ec_number": "1.13.11.34", "activity": "(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = H2O + leukotriene A4.", "evidence": [ { "id": "P09917", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09917" } ] } ] }, { "uniprot_ac": "P09960", "gene_name": "LTA4H", "activity": [ { "ec_number": "3.3.2.6", "activity": "H2O + leukotriene A4 = leukotriene B4.", "evidence": [ { "id": "P09960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09960" } ] }, { "ec_number": "3.4.11.4", "activity": "Release of the N-terminal residue from a tripeptide.", "evidence": [ { "id": "P09960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09960" } ] }, { "ec_number": "3.3.2.6", "activity": "", "evidence": [ { "id": "P09960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09960" } ] } ] }, { "uniprot_ac": "P09972", "gene_name": "ALDOC", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P09972", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09972" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P09972", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09972" } ] } ] }, { "uniprot_ac": "P11142", "gene_name": "HSPA8", "activity": [ { "ec_number": "3.6.4.10", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P11142", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11142" } ] }, { "ec_number": "3.6.4.10", "activity": "", "evidence": [ { "id": "P11142", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11142" } ] } ] }, { "uniprot_ac": "P11678", "gene_name": "EPX", "activity": [ { "ec_number": "1.11.1.7", "activity": "2 a phenolic donor + H2O2 = 2 a phenolic radical donor + 2 H2O.", "evidence": [ { "id": "P11678", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11678" } ] }, { "ec_number": "1.11.1.7", "activity": "", "evidence": [ { "id": "P11678", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11678" } ] } ] }, { "uniprot_ac": "P12268", "gene_name": "IMPDH2", "activity": [ { "ec_number": "1.1.1.205", "activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.", "evidence": [ { "id": "P12268", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12268" } ] }, { "ec_number": "1.1.1.205", "activity": "", "evidence": [ { "id": "P12268", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12268" } ] } ] }, { "uniprot_ac": "P12956", "gene_name": "XRCC6", "activity": [ { "ec_number": "4.2.99.-", "activity": "", "evidence": [ { "id": "P12956", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12956" } ] }, { "ec_number": "3.6.4.-", "activity": "", "evidence": [ { "id": "P12956", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12956" } ] } ] }, { "uniprot_ac": "P13010", "gene_name": "XRCC5", "activity": [ { "ec_number": "3.6.4.-", "activity": "", "evidence": [ { "id": "P13010", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13010" } ] } ] }, { "uniprot_ac": "P13639", "gene_name": "EEF2", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P13639", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13639" } ] } ] }, { "uniprot_ac": "P13716", "gene_name": "ALAD", "activity": [ { "ec_number": "4.2.1.24", "activity": "2 5-aminolevulinate = H(+) + 2 H2O + porphobilinogen.", "evidence": [ { "id": "P13716", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13716" } ] }, { "ec_number": "4.2.1.24", "activity": "", "evidence": [ { "id": "P13716", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13716" } ] } ] }, { "uniprot_ac": "P13798", "gene_name": "APEH", "activity": [ { "ec_number": "3.4.19.1", "activity": "Internal cleavage of oxidized and glycated proteins.", "evidence": [ { "id": "P13798", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13798" } ] }, { "ec_number": "3.4.19.1", "activity": "", "evidence": [ { "id": "P13798", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13798" } ] } ] }, { "uniprot_ac": "P14174", "gene_name": "MIF", "activity": [ { "ec_number": "5.3.2.1", "activity": "3-phenylpyruvate = enol-phenylpyruvate.", "evidence": [ { "id": "P14174", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14174" } ] }, { "ec_number": "5.3.3.12", "activity": "L-dopachrome = 5,6-dihydroxyindole-2-carboxylate.", "evidence": [ { "id": "P14174", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14174" } ] }, { "ec_number": "5.3.2.1", "activity": "", "evidence": [ { "id": "P14174", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14174" } ] } ] }, { "uniprot_ac": "P14618", "gene_name": "PKM", "activity": [ { "ec_number": "2.7.1.40", "activity": "CTP + pyruvate = CDP + H(+) + phosphoenolpyruvate.", "evidence": [ { "id": "P14618", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14618" } ] }, { "ec_number": "2.7.1.40", "activity": "", "evidence": [ { "id": "P14618", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14618" } ] }, { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P14618", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14618" } ] }, { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P14618", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14618" } ] } ] }, { "uniprot_ac": "P14780", "gene_name": "MMP9", "activity": [ { "ec_number": "3.4.24.35", "activity": "Cleavage of gelatin types I and V and collagen types IV and V.", "evidence": [ { "id": "P14780", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14780" } ] }, { "ec_number": "3.4.24.35", "activity": "", "evidence": [ { "id": "P14780", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14780" } ] } ] }, { "uniprot_ac": "P15586", "gene_name": "GNS", "activity": [ { "ec_number": "3.1.6.14", "activity": "Hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate.", "evidence": [ { "id": "P15586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15586" } ] }, { "ec_number": "3.1.6.14", "activity": "", "evidence": [ { "id": "P15586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15586" } ] } ] }, { "uniprot_ac": "P15848", "gene_name": "ARSB", "activity": [ { "ec_number": "3.1.6.12", "activity": "Hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate.", "evidence": [ { "id": "P15848", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15848" } ] }, { "ec_number": "3.1.6.12", "activity": "", "evidence": [ { "id": "P15848", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15848" } ] } ] }, { "uniprot_ac": "P16278", "gene_name": "GLB1", "activity": [ { "ec_number": "3.2.1.23", "activity": "Hydrolysis of terminal non-reducing beta-D-galactose residues in beta-D-galactosides.", "evidence": [ { "id": "P16278", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16278" } ] }, { "ec_number": "3.2.1.23", "activity": "", "evidence": [ { "id": "P16278", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16278" } ] } ] }, { "uniprot_ac": "P17858", "gene_name": "PFKL", "activity": [ { "ec_number": "2.7.1.11", "activity": "ATP + beta-D-fructose 6-phosphate = ADP + beta-D-fructose 1,6-bisphosphate + H(+).", "evidence": [ { "id": "P17858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17858" } ] }, { "ec_number": "2.7.1.11", "activity": "", "evidence": [ { "id": "P17858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17858" } ] } ] }, { "uniprot_ac": "P18669", "gene_name": "PGAM1", "activity": [ { "ec_number": "5.4.2.11", "activity": "(2R)-2-phosphoglycerate = (2R)-3-phosphoglycerate.", "evidence": [ { "id": "P18669", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18669" } ] }, { "ec_number": "5.4.2.4", "activity": "(2R)-3-phospho-glyceroyl phosphate = (2R)-2,3-bisphosphoglycerate + H(+).", "evidence": [ { "id": "P18669", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18669" } ] }, { "ec_number": "5.4.2.4", "activity": "", "evidence": [ { "id": "P18669", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18669" } ] }, { "ec_number": "5.4.2.11", "activity": "", "evidence": [ { "id": "P18669", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18669" } ] } ] }, { "uniprot_ac": "P20839", "gene_name": "IMPDH1", "activity": [ { "ec_number": "1.1.1.205", "activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.", "evidence": [ { "id": "P20839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20839" } ] }, { "ec_number": "1.1.1.205", "activity": "", "evidence": [ { "id": "P20839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20839" } ] } ] }, { "uniprot_ac": "P22392", "gene_name": "NME2", "activity": [ { "ec_number": "2.7.4.6", "activity": "a ribonucleoside 5'-diphosphate + ATP = a ribonucleoside 5'-triphosphate + ADP.", "evidence": [ { "id": "P22392", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22392" } ] }, { "ec_number": "2.7.13.3", "activity": "ATP + protein L-histidine = ADP + protein N-phospho-L-histidine.", "evidence": [ { "id": "P22392", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22392" } ] }, { "ec_number": "2.7.4.6", "activity": "", "evidence": [ { "id": "P22392", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22392" } ] }, { "ec_number": "2.7.13.3", "activity": "", "evidence": [ { "id": "P22392", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22392" } ] } ] }, { "uniprot_ac": "P23492", "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": "P23492", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23492" } ] }, { "ec_number": "2.4.2.1", "activity": "", "evidence": [ { "id": "P23492", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23492" } ] } ] }, { "uniprot_ac": "P25774", "gene_name": "CTSS", "activity": [ { "ec_number": "3.4.22.27", "activity": "Similar to cathepsin L, but with much less activity on Z-Phe-Arg-|-NHMec, and more activity on the Z-Val-Val-Arg-|-Xaa compound.", "evidence": [ { "id": "P25774", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25774" } ] }, { "ec_number": "3.4.22.27", "activity": "", "evidence": [ { "id": "P25774", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25774" } ] } ] }, { "uniprot_ac": "P28482", "gene_name": "MAPK1", "activity": [ { "ec_number": "2.7.11.24", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P28482", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28482" } ] }, { "ec_number": "2.7.11.24", "activity": "", "evidence": [ { "id": "P28482", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28482" } ] } ] }, { "uniprot_ac": "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": "P36871", "gene_name": "PGM1", "activity": [ { "ec_number": "5.4.2.2", "activity": "alpha-D-glucose 1-phosphate = alpha-D-glucose 6-phosphate.", "evidence": [ { "id": "P36871", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36871" } ] }, { "ec_number": "5.4.2.2", "activity": "", "evidence": [ { "id": "P36871", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36871" } ] } ] }, { "uniprot_ac": "P46976", "gene_name": "GYG1", "activity": [ { "ec_number": "2.4.1.186", "activity": "[1,4-alpha-D-glucosyl](n)-L-tyrosyl-[glycogenin] + UDP-alpha-D-glucose = [1,4-alpha-D-glucosyl](n+1)-L-tyrosyl-[glycogenin] + H(+) + UDP.", "evidence": [ { "id": "P46976", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46976" } ] }, { "ec_number": "2.4.1.186", "activity": "", "evidence": [ { "id": "P46976", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46976" } ] } ] }, { "uniprot_ac": "P52790", "gene_name": "HK3", "activity": [ { "ec_number": "2.7.1.1", "activity": "ATP + D-fructose = ADP + D-fructose 6-phosphate + H(+).", "evidence": [ { "id": "P52790", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52790" } ] }, { "ec_number": "2.7.1.1", "activity": "", "evidence": [ { "id": "P52790", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52790" } ] }, { "ec_number": "2.7.1.-", "activity": "", "evidence": [ { "id": "P52790", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52790" } ] } ] }, { "uniprot_ac": "P53396", "gene_name": "ACLY", "activity": [ { "ec_number": "2.3.3.8", "activity": "acetyl-CoA + ADP + oxaloacetate + phosphate = ATP + citrate + CoA.", "evidence": [ { "id": "P53396", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53396" } ] }, { "ec_number": "2.3.3.8", "activity": "", "evidence": [ { "id": "P53396", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53396" } ] } ] }, { "uniprot_ac": "P55072", "gene_name": "VCP", "activity": [ { "ec_number": "3.6.4.6", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P55072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55072" } ] }, { "ec_number": "3.6.4.6", "activity": "", "evidence": [ { "id": "P55072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55072" } ] } ] }, { "uniprot_ac": "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": "P85973", "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": "P85973", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P85973" } ] }, { "ec_number": "2.4.2.1", "activity": "", "evidence": [ { "id": "P85973", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P85973" } ] } ] }, { "uniprot_ac": "P98066", "gene_name": "TNFAIP6", "activity": [ { "ec_number": "3.1.1.-", "activity": "", "evidence": [ { "id": "P98066", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P98066" } ] } ] }, { "uniprot_ac": "Q01432", "gene_name": "AMPD3", "activity": [ { "ec_number": "3.5.4.6", "activity": "AMP + H(+) + H2O = IMP + NH4(+).", "evidence": [ { "id": "Q01432", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q01432" } ] }, { "ec_number": "3.5.4.6", "activity": "", "evidence": [ { "id": "Q01432", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q01432" } ] } ] }, { "uniprot_ac": "Q13162", "gene_name": "PRDX4", "activity": [ { "ec_number": "1.11.1.24", "activity": "[thioredoxin]-dithiol + a hydroperoxide = [thioredoxin]-disulfide + an alcohol + H2O.", "evidence": [ { "id": "Q13162", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13162" } ] }, { "ec_number": "1.11.1.24", "activity": "", "evidence": [ { "id": "Q13162", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13162" } ] } ] }, { "uniprot_ac": "Q13464", "gene_name": "ROCK1", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q13464", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13464" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "Q13464", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13464" } ] } ] }, { "uniprot_ac": "Q13510", "gene_name": "ASAH1", "activity": [ { "ec_number": "3.5.1.23", "activity": "an N-acylsphing-4-enine + H2O = a fatty acid + sphing-4-enine.", "evidence": [ { "id": "Q13510", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13510" } ] }, { "ec_number": "3.5.1.23", "activity": "", "evidence": [ { "id": "Q13510", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13510" } ] }, { "ec_number": "3.5.1.-", "activity": "", "evidence": [ { "id": "Q13510", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13510" } ] } ] }, { "uniprot_ac": "Q14004", "gene_name": "CDK13", "activity": [ { "ec_number": "2.7.11.22", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q14004", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14004" } ] }, { "ec_number": "2.7.11.23", "activity": "[DNA-directed RNA polymerase] + ATP = ADP + H(+) + phospho-[DNA-directed RNA polymerase].", "evidence": [ { "id": "Q14004", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14004" } ] }, { "ec_number": "2.7.11.22", "activity": "", "evidence": [ { "id": "Q14004", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14004" } ] }, { "ec_number": "2.7.11.23", "activity": "", "evidence": [ { "id": "Q14004", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14004" } ] } ] }, { "uniprot_ac": "Q16539", "gene_name": "MAPK14", "activity": [ { "ec_number": "2.7.11.24", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q16539", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16539" } ] }, { "ec_number": "2.7.11.24", "activity": "", "evidence": [ { "id": "Q16539", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16539" } ] } ] }, { "uniprot_ac": "Q16769", "gene_name": "QPCT", "activity": [ { "ec_number": "2.3.2.5", "activity": "N-terminal L-glutaminyl-[peptide] = N-terminal 5-oxo-L-prolyl-[peptide] + NH4(+).", "evidence": [ { "id": "Q16769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16769" } ] }, { "ec_number": "2.3.2.5", "activity": "", "evidence": [ { "id": "Q16769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16769" } ] } ] }, { "uniprot_ac": "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": "Q8BZT9", "gene_name": "Lacc1", "activity": [ { "ec_number": "3.5.4.4", "activity": "2'-deoxyadenosine + H(+) + H2O = 2'-deoxyinosine + NH4(+).", "evidence": [ { "id": "Q8BZT9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BZT9" } ] }, { "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": "Q8BZT9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BZT9" } ] }, { "ec_number": "2.4.2.28", "activity": "phosphate + S-methyl-5'-thioadenosine = adenine + S-methyl-5-thio-alpha-D-ribose 1-phosphate.", "evidence": [ { "id": "Q8BZT9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BZT9" } ] }, { "ec_number": "2.4.2.1", "activity": "", "evidence": [ { "id": "Q8BZT9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BZT9" } ] } ] }, { "uniprot_ac": "Q8IV20", "gene_name": "LACC1", "activity": [ { "ec_number": "3.5.4.4", "activity": "2'-deoxyadenosine + H(+) + H2O = 2'-deoxyinosine + NH4(+).", "evidence": [ { "id": "Q8IV20", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IV20" } ] }, { "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": "Q8IV20", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IV20" } ] }, { "ec_number": "2.4.2.28", "activity": "phosphate + S-methyl-5'-thioadenosine = adenine + S-methyl-5-thio-alpha-D-ribose 1-phosphate.", "evidence": [ { "id": "Q8IV20", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IV20" } ] }, { "ec_number": "2.4.2.1", "activity": "", "evidence": [ { "id": "Q8IV20", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IV20" } ] } ] }, { "uniprot_ac": "Q8WVQ1", "gene_name": "CANT1", "activity": [ { "ec_number": "3.6.1.6", "activity": "ADP + H2O = AMP + H(+) + phosphate.", "evidence": [ { "id": "Q8WVQ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WVQ1" } ] }, { "ec_number": "3.6.1.6", "activity": "", "evidence": [ { "id": "Q8WVQ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WVQ1" } ] } ] }, { "uniprot_ac": "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": "Q9D8C9", "gene_name": "Pnp2", "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": "Q9D8C9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D8C9" } ] }, { "ec_number": "2.4.2.1", "activity": "", "evidence": [ { "id": "Q9D8C9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D8C9" } ] } ] }, { "uniprot_ac": "Q9P0J7", "gene_name": "KCMF1", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q9P0J7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P0J7" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9P0J7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P0J7" } ] } ] }, { "uniprot_ac": "Q9UBR2", "gene_name": "CTSZ", "activity": [ { "ec_number": "3.4.18.1", "activity": "Release of C-terminal amino acid residues with broad specificity, but lacks action on C-terminal proline. Shows weak endopeptidase activity.", "evidence": [ { "id": "Q9UBR2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UBR2" } ] }, { "ec_number": "3.4.18.1", "activity": "", "evidence": [ { "id": "Q9UBR2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UBR2" } ] } ] }, { "uniprot_ac": "Q9UNP9", "gene_name": "PPIE", "activity": [ { "ec_number": "5.2.1.8", "activity": "[protein]-peptidylproline (omega=180) = [protein]-peptidylproline (omega=0).", "evidence": [ { "id": "Q9UNP9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UNP9" } ] }, { "ec_number": "5.2.1.8", "activity": "", "evidence": [ { "id": "Q9UNP9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UNP9" } ] } ] }, { "uniprot_ac": "Q9W1K6", "gene_name": "Dmel\\CG18128", "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": "Q9W1K6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9W1K6" } ] }, { "ec_number": "2.4.2.1", "activity": "", "evidence": [ { "id": "Q9W1K6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9W1K6" } ] } ] }, { "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": [ 251 ], "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", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "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_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 97 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }