{ "uniprot_canonical_ac": "P05089-1", "uniprot_ac": "P05089", "uniprot_id": "ARGI1_HUMAN", "mass": { "chemical_mass": 34735.0, "monoisotopic_mass": 34735.0 }, "refseq": { "ac": "NP_000036", "name": "arginase-1 isoform 2", "summary": "Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000036" }, "gene_names": [ { "name": "ARG1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P05089", "id": "P05089" }, { "name": "ARG1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000036", "id": "NP_000036" } ], "protein_names": [ { "name": "Arginase-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P05089" }, { "name": "3.5.3.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05089" }, { "name": "Liver-type arginase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05089" }, { "name": "Type I arginase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05089" }, { "name": "arginase-1 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000036", "id": "NP_000036" }, { "name": "type I arginase; liver-type arginase; arginase, liver", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000036", "id": "NP_000036" } ], "function": [ { "annotation": "Arginase 1 is a key driver of immune suppression in pancreatic cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000036", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000036" }, { "database": "PubMed", "id": "36727849", "url": "https://glygen.org/publication/PubMed/36727849" } ] }, { "annotation": "Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_000036", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000036" } ] }, { "annotation": "Arginase-1 promotes lens epithelial-to-mesenchymal transition in different models of anterior subcapsular cataract. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000036", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000036" }, { "database": "PubMed", "id": "37723490", "url": "https://glygen.org/publication/PubMed/37723490" } ] }, { "annotation": "Arginase-1+ bone marrow myeloid cells are reduced in myeloproliferative neoplasms and correlate with clinical phenotype, fibrosis, and molecular driver.", "evidence": [ { "database": "RefSeq", "id": "NP_000036", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000036" }, { "database": "PubMed", "id": "36524315", "url": "https://glygen.org/publication/PubMed/36524315" } ] }, { "annotation": "DDR2-regulated arginase activity in ovarian cancer-associated fibroblasts promotes collagen production and tumor progression.", "evidence": [ { "database": "RefSeq", "id": "NP_000036", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000036" }, { "database": "PubMed", "id": "37996700", "url": "https://glygen.org/publication/PubMed/37996700" } ] }, { "annotation": "Functions in L-arginine homeostasis in nonhepatic tissues characterized by the competition between nitric oxide synthase (NOS) and arginase for the available intracellular substrate arginine. Arginine metabolism is a critical regulator of innate and adaptive immune responses. Involved in an antimicrobial effector pathway in polymorphonuclear granulocytes (PMN). Upon PMN cell death is liberated from the phagolysosome and depletes arginine in the microenvironment leading to suppressed T cell and natural killer (NK) cell proliferation and cytokine secretion (PubMed:15546957, PubMed:16709924, PubMed:19380772). In group 2 innate lymphoid cells (ILC2s) promotes acute type 2 inflammation in the lung and is involved in optimal ILC2 proliferation but not survival (By similarity). In humans, the immunological role in the monocytic/macrophage/dendritic cell (DC) lineage is unsure.", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089#function" }, { "database": "PubMed", "id": "15546957", "url": "https://glygen.org/publication/PubMed/15546957" }, { "database": "PubMed", "id": "19380772", "url": "https://glygen.org/publication/PubMed/19380772" }, { "database": "PubMed", "id": "16709924", "url": "https://glygen.org/publication/PubMed/16709924" }, { "database": "UniProtKB", "id": "Q61176", "url": "https://www.uniprot.org/uniprot/Q61176#function" } ] }, { "annotation": "Key element of the urea cycle converting L-arginine to urea and L-ornithine, which is further metabolized into metabolites proline and polyamides that drive collagen synthesis and bioenergetic pathways critical for cell proliferation, respectively; the urea cycle takes place primarily in the liver and, to a lesser extent, in the kidneys.", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089#function" } ] } ], "disease": [ { "disease_id": "DOID:9278", "recommended_name": { "id": "DOID:9278", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9278", "name": "hyperargininemia", "description": "An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine." }, "synonyms": [ { "id": "DOID:9278", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9278", "name": "Arginase deficiency", "description": "" }, { "id": "DOID:9278", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9278", "name": "argininemia", "description": "" }, { "id": "DOID:9278", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9278", "name": "deficiency of canavanase", "description": "" }, { "id": "MONDO:0008814", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008814", "name": "hyperargininemia", "description": "Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment." }, { "id": "MONDO:0008814", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008814", "name": "arginase deficiency", "description": "" }, { "id": "MONDO:0008814", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008814", "name": "argininemia", "description": "" }, { "id": "MONDO:0008814", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008814", "name": "deficiency of canavanase", "description": "" }, { "id": "MONDO:0008814", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008814", "name": "hyperargininemia", "description": "" }, { "id": "MONDO:0008814", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008814", "name": "Arg1 deficiency", "description": "" }, { "id": "MIM:207800", "resource": "MIM", "url": "https://www.omim.org/entry/207800", "name": "Argininemia", "description": "Argininemia" } ], "evidence": [ { "id": "207800", "database": "MIM", "url": "https://www.omim.org/entry/207800" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "65.8", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000118520", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118520" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "68.54", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000118520", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118520" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "59.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000118520", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118520" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000118520", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118520" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "55.9", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000118520", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118520" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "64.66", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000118520", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118520" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000118520", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118520" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "54.4", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000118520", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118520" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "63.2", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000118520", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118520" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000118520", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118520" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "99.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000118520", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118520" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "61.78", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000118520", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118520" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "66.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000118520", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118520" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P05089", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05089" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P05089", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05089" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P05089", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05089" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P05089", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05089" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P05089", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05089" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P05089", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05089" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P05089", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05089" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P05089", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05089" } ], "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": [ { "database": "BioXpress", "id": "P05089", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05089" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P05089", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05089" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P05089", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05089" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P05089", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05089" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "common_name": "Human" } ], "gene": [ { "name": "ARG1", "url": "https://www.uniprot.org/uniprot/P05089", "locus": { "chromosome": "6", "start_pos": 131584332, "end_pos": 131470832, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000118520", "url": "https://www.ensembl.org/id/ENSG00000118520" } ] } } ], "crossref": [ { "id": "ENSG00000118520", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118520", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "3.5.3.1", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=3.5.3.1&UniProtAcc=P05089", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd11587", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd11587", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL1075097", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL1075097", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "ARG1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARG1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "383", "url": "https://www.ncbi.nlm.nih.gov/gene/383", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "663", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=663", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P05089", "url": "https://www.ebi.ac.uk/intact/interactors/id:P05089*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR006035", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006035", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014033", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014033", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020855", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020855", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023696", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023696", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:383", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:383", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "207800", "url": "http://www.omim.org/entry/207800", "database": "MIM", "categories": [ "Other" ] }, { "id": "608313", "url": "http://www.omim.org/entry/608313", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P05089", "url": "https://www.nextprot.org/entry/NX_P05089", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P05089", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05089", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "YAMDSID", "url": "https://omabrowser.org/oma/group/YAMDSID/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "161483at2759", "url": "http://www.orthodb.org/?query=161483at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR43782", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43782", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR43782:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43782:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1WVA", "url": "https://www.rcsb.org/structure/1WVA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1WVB", "url": "https://www.rcsb.org/structure/1WVB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2AEB", "url": "https://www.rcsb.org/structure/2AEB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2PHA", "url": "https://www.rcsb.org/structure/2PHA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2PHO", "url": "https://www.rcsb.org/structure/2PHO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2PLL", "url": "https://www.rcsb.org/structure/2PLL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2ZAV", "url": "https://www.rcsb.org/structure/2ZAV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3DJ8", "url": "https://www.rcsb.org/structure/3DJ8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3E6K", "url": "https://www.rcsb.org/structure/3E6K", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3E6V", "url": "https://www.rcsb.org/structure/3E6V", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3F80", "url": "https://www.rcsb.org/structure/3F80", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3GMZ", "url": "https://www.rcsb.org/structure/3GMZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3GN0", "url": "https://www.rcsb.org/structure/3GN0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3KV2", "url": "https://www.rcsb.org/structure/3KV2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3LP4", "url": "https://www.rcsb.org/structure/3LP4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3LP7", "url": "https://www.rcsb.org/structure/3LP7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3MFV", "url": "https://www.rcsb.org/structure/3MFV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3MFW", "url": "https://www.rcsb.org/structure/3MFW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3MJL", "url": "https://www.rcsb.org/structure/3MJL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3SJT", "url": "https://www.rcsb.org/structure/3SJT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3SKK", "url": "https://www.rcsb.org/structure/3SKK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3TF3", "url": "https://www.rcsb.org/structure/3TF3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3TH7", "url": "https://www.rcsb.org/structure/3TH7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3THE", "url": "https://www.rcsb.org/structure/3THE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3THH", "url": "https://www.rcsb.org/structure/3THH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3THJ", "url": "https://www.rcsb.org/structure/3THJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4FCI", "url": "https://www.rcsb.org/structure/4FCI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4FCK", "url": "https://www.rcsb.org/structure/4FCK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4GSM", "url": "https://www.rcsb.org/structure/4GSM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4GSV", "url": "https://www.rcsb.org/structure/4GSV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4GSZ", "url": "https://www.rcsb.org/structure/4GSZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4GWC", "url": "https://www.rcsb.org/structure/4GWC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4GWD", "url": "https://www.rcsb.org/structure/4GWD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4HWW", "url": "https://www.rcsb.org/structure/4HWW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4HXQ", "url": "https://www.rcsb.org/structure/4HXQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4IE1", "url": "https://www.rcsb.org/structure/4IE1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6Q92", "url": "https://www.rcsb.org/structure/6Q92", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6Q9P", "url": "https://www.rcsb.org/structure/6Q9P", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6QAF", "url": "https://www.rcsb.org/structure/6QAF", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6V7C", "url": "https://www.rcsb.org/structure/6V7C", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6V7D", "url": "https://www.rcsb.org/structure/6V7D", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6V7E", "url": "https://www.rcsb.org/structure/6V7E", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6V7F", "url": "https://www.rcsb.org/structure/6V7F", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7K4G", "url": "https://www.rcsb.org/structure/7K4G", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7K4H", "url": "https://www.rcsb.org/structure/7K4H", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7K4I", "url": "https://www.rcsb.org/structure/7K4I", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7K4J", "url": "https://www.rcsb.org/structure/7K4J", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7K4K", "url": "https://www.rcsb.org/structure/7K4K", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7KLK", "url": "https://www.rcsb.org/structure/7KLK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7KLL", "url": "https://www.rcsb.org/structure/7KLL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7KLM", "url": "https://www.rcsb.org/structure/7KLM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7LEX", "url": "https://www.rcsb.org/structure/7LEX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7LEY", "url": "https://www.rcsb.org/structure/7LEY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7LEZ", "url": "https://www.rcsb.org/structure/7LEZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7LF0", "url": "https://www.rcsb.org/structure/7LF0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7LF1", "url": "https://www.rcsb.org/structure/7LF1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7LF2", "url": "https://www.rcsb.org/structure/7LF2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8AUP", "url": "https://www.rcsb.org/structure/8AUP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8E5M", "url": "https://www.rcsb.org/structure/8E5M", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8E5N", "url": "https://www.rcsb.org/structure/8E5N", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00491", "url": "http://pfam.xfam.org/family/PF00491", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P05089", "url": "https://pharos.nih.gov/targets/P05089", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P05089", "url": "http://purl.obolibrary.org/obo/PR_P05089", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000036", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000036", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "20569", "url": "https://www.rhea-db.org/rhea/20569", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A5F9ZGN6", "url": "https://www.uniprot.org/uniprot/A0A5F9ZGN6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5F9ZGN6-1", "url": "https://www.uniprot.org/uniprot/A0A5F9ZGN6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5F9ZGY6", "url": "https://www.uniprot.org/uniprot/A0A5F9ZGY6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5F9ZGY6-1", "url": "https://www.uniprot.org/uniprot/A0A5F9ZGY6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5F9ZH78", "url": "https://www.uniprot.org/uniprot/A0A5F9ZH78", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5F9ZH78-1", "url": "https://www.uniprot.org/uniprot/A0A5F9ZH78-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P05089-1", "url": "https://www.uniprot.org/uniprot/P05089-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P05089-2", "url": "https://www.uniprot.org/uniprot/P05089-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P05089-3", "url": "https://www.uniprot.org/uniprot/P05089-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSAKSRTIGIIGAPFSKGQPRGGVEEGPTVLRKAGLLEKLKEQECDVKDYGDLPFADIPNDSPFQIVKNPRSVGKASEQLAGKVAEVKKNGRISLVLGGDHSLAIGSISGHARVHPDLGVIWVDAHTDINTPLTTTSGNLHGQPVSFLLKELKGKIPDVPGFSWVTPCISAKDIVYIGLRDVDPGEHYILKTLGIKYFSMTEVDRLGIGKVMEETLSYLLGRKKRPIHLSFDVDGLDPSFTPATGTPVVGGLTYREGLYITEEIYKTGLLSGLDIMEVNPSLGKTPEEVTRTVNTAVAITLACFGLAREGNHKPIDYLNPPK", "length": 322, "header": "sp|P05089-1|ARGI1_HUMAN Isoform 1 of Arginase-1 OS=Homo sapiens OX=9606 GN=ARG1 PE=1 SV=2 CANONICAL=P05089-1" }, "isoforms": [ { "isoform_ac": "A0A5F9ZGN6-1", "url": "", "sequence": { "sequence": "MAHYSLNLPSSGDPLASASRVAGTTECDVKDYGDLPFADIPNDSPFQIVKNPRSVGKASEQLAGKVAEVKKNGRISLVLGGDHSLAIGSISGHARVHPDLGVIWVDAHTDINTPLTTTSGNLHGQPVSFLLKELKGKIPDVPGFSWVTPCISAKDIVYIGLRDVDPGEHYILKTLGIKYFSMTEVDRLGIGKVMEETLSYLLGRKKRPIHLSFDVDGLDPSFTPATGTPVVGGLTYREGLYITEEIYKTGLLSGLDIMEVNPSLGKTPEEVTRTVNTAVAITLACFGLAREGNHKPIDYLNPPK", "length": 304, "header": "tr|A0A5F9ZGN6-1|A0A5F9ZGN6_HUMAN Computationally mapped isoform of Arginase OS=Homo sapiens OX=9606 GN=ARG1 PE=1 SV=1 CANONICAL=P05089-1" }, "locus": { "chromosome": "6", "start_pos": 131583905, "end_pos": 131547123, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000672233.1", "url": "https://www.ensembl.org/id/ENST00000672233.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000499826.1", "url": "https://www.ensembl.org/id/ENSP00000499826.1" } ] } }, { "isoform_ac": "A0A5F9ZGY6-1", "url": "", "sequence": { "sequence": "MAHYSLNLPSSGDPLASASRVAGTTATRRGGRRPYSIEKGWSA", "length": 43, "header": "tr|A0A5F9ZGY6-1|ARGI1_HUMAN Computationally mapped isoform of Arginase-1 OS=Homo sapiens OX=9606 GN=ARG1 PE=1 SV=1 CANONICAL=P05089-1" }, "locus": { "chromosome": "6", "start_pos": 131576715, "end_pos": 131547123, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000673234.1", "url": "https://www.ensembl.org/id/ENST00000673234.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000499885.1", "url": "https://www.ensembl.org/id/ENSP00000499885.1" } ] } }, { "isoform_ac": "A0A5F9ZH78-1", "url": "", "sequence": { "sequence": "MSAKSRTIGIIGAPFSKGQPRGGVEEGPTVLRKAGLLEKLKEQECDVKDYGDLPFADIPNDSPFQIVKNPRSVGKASEQLAGKVAEVKKNGRISLVLGGDHSYILKTLGIKYFSMTEVDRLGIGKVMEETLSYLLGRKKRPIHLSFDVDGLDPSFTPATGTPVVGGLTYREGLYITEEIYKTGLLSGLDIMEVNPSLGKTPEEVTRTVNTAVAITLACFGLAREGNHKPIDYLNPPK", "length": 237, "header": "tr|A0A5F9ZH78-1|ARGI1_HUMAN Computationally mapped isoform of Arginase-1 OS=Homo sapiens OX=9606 GN=ARG1 PE=1 SV=1 CANONICAL=P05089-1" }, "locus": { "chromosome": "6", "start_pos": 131583905, "end_pos": 131573283, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000673427.1", "url": "https://www.ensembl.org/id/ENST00000673427.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000500160.1", "url": "https://www.ensembl.org/id/ENSP00000500160.1" } ] } }, { "isoform_ac": "P05089-1", "url": "", "sequence": { "sequence": "MSAKSRTIGIIGAPFSKGQPRGGVEEGPTVLRKAGLLEKLKEQECDVKDYGDLPFADIPNDSPFQIVKNPRSVGKASEQLAGKVAEVKKNGRISLVLGGDHSLAIGSISGHARVHPDLGVIWVDAHTDINTPLTTTSGNLHGQPVSFLLKELKGKIPDVPGFSWVTPCISAKDIVYIGLRDVDPGEHYILKTLGIKYFSMTEVDRLGIGKVMEETLSYLLGRKKRPIHLSFDVDGLDPSFTPATGTPVVGGLTYREGLYITEEIYKTGLLSGLDIMEVNPSLGKTPEEVTRTVNTAVAITLACFGLAREGNHKPIDYLNPPK", "length": 322, "header": "sp|P05089-1|ARGI1_HUMAN Isoform 1 of Arginase-1 OS=Homo sapiens OX=9606 GN=ARG1 PE=1 SV=2 CANONICAL=P05089-1" }, "locus": { "chromosome": "6", "start_pos": 131583905, "end_pos": 131573283, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000368087.8", "url": "https://www.ensembl.org/id/ENST00000368087.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000357066.3", "url": "https://www.ensembl.org/id/ENSP00000357066.3" } ] } }, { "isoform_ac": "P05089-2", "url": "", "sequence": { "sequence": "MSAKSRTIGIIGAPFSKGQPRGGVEEGPTVLRKAGLLEKLKEQVTQNFLILECDVKDYGDLPFADIPNDSPFQIVKNPRSVGKASEQLAGKVAEVKKNGRISLVLGGDHSLAIGSISGHARVHPDLGVIWVDAHTDINTPLTTTSGNLHGQPVSFLLKELKGKIPDVPGFSWVTPCISAKDIVYIGLRDVDPGEHYILKTLGIKYFSMTEVDRLGIGKVMEETLSYLLGRKKRPIHLSFDVDGLDPSFTPATGTPVVGGLTYREGLYITEEIYKTGLLSGLDIMEVNPSLGKTPEEVTRTVNTAVAITLACFGLAREGNHKPIDYLNPPK", "length": 330, "header": "sp|P05089-2|ARGI1_HUMAN Isoform 2 of Arginase-1 OS=Homo sapiens OX=9606 GN=ARG1 PE=1 SV=2 CANONICAL=P05089-1" }, "locus": { "chromosome": "6", "start_pos": 131583905, "end_pos": 131573283, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000356962.2", "url": "https://www.ensembl.org/id/ENST00000356962.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000349446.2", "url": "https://www.ensembl.org/id/ENSP00000349446.2" } ] } }, { "isoform_ac": "P05089-3", "url": "", "sequence": { "sequence": "MSAKSRTIGIIGAPFSKGQPRGGVEEGPTVLRKAGLLEKLKEQECDVKDYGDLPFADIPNDSPFQIVKNPRSVGKASEQLAGKVAEVKKNGRISLVLGGDHSLAIGSISGHARVHPDLGVIWVDAHTDINTPLTTTSGNLHGQPVSFLLKELKGKIPDVPGFSWVTPCISAKDIVYIGLRDVDPGEHYILKTLGIKYFSMTEVTRTVNTAVAITLACFGLAREGNHKPIDYLNPPK", "length": 236, "header": "sp|P05089-3|ARGI1_HUMAN Isoform 3 of Arginase-1 OS=Homo sapiens OX=9606 GN=ARG1 PE=1 SV=2 CANONICAL=P05089-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P05089", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05089" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "26374642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26374642" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" } ] } ], "phosphorylation": [ { "start_pos": 163, "end_pos": 163, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P05089", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05089" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser163" }, { "start_pos": 166, "end_pos": 166, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P05089", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05089" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Thr166" }, { "start_pos": 217, "end_pos": 217, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P05089", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05089" } ], "site_lbl": "Ser217" }, { "start_pos": 62, "end_pos": 62, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P05089", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05089" } ], "site_lbl": "Ser62" }, { "start_pos": 72, "end_pos": 72, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "site_lbl": "Ser72" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.", "journal": "Nature genetics", "date": "1999", "authors": "Camacho JA, Obie C, Biery B, Goodman BK, Hu CA, Almashanu S, Steel G, Casey R, Lambert M, Mitchell GA, Valle D", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "10369256", "url": "https://glygen.org/publication/PubMed/10369256" } ] }, { "title": "Human ornithine transcarbamylase: crystallographic insights into substrate recognition and conformational changes.", "journal": "The Biochemical journal", "date": "2001", "authors": "Shi D, Morizono H, Yu X, Tong L, Allewell NM, Tuchman M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "11237854", "url": "https://glygen.org/publication/PubMed/11237854" } ] }, { "title": "Cloning and expression of the human N-acetylglutamate synthase gene.", "journal": "Biochemical and biophysical research communications", "date": "2002", "authors": "Caldovic L, Morizono H, Gracia Panglao M, Gallegos R, Yu X, Shi D, Malamy MH, Allewell NM, Tuchman M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "12459178", "url": "https://glygen.org/publication/PubMed/12459178" } ] }, { "title": "The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Fiermonte G, Dolce V, David L, Santorelli FM, Dionisi-Vici C, Palmieri F, Walker JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "12807890", "url": "https://glygen.org/publication/PubMed/12807890" } ] }, { "title": "Human arginase II: crystal structure and physiological role in male and female sexual arousal.", "journal": "Biochemistry", "date": "2003", "authors": "Cama E, Colleluori DM, Emig FA, Shin H, Kim SW, Kim NN, Traish AM, Ash DE, Christianson DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "12859189", "url": "https://glygen.org/publication/PubMed/12859189" } ] }, { "title": "Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder.", "journal": "Molecular genetics and metabolism", "date": "2003", "authors": "Camacho JA, Rioseco-Camacho N, Andrade D, Porter J, Kong J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "12948741", "url": "https://glygen.org/publication/PubMed/12948741" } ] }, { "title": "Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia.", "journal": "American journal of human genetics", "date": "1992", "authors": "Uchino T, Haraguchi Y, Aparicio JM, Mizutani N, Higashikawa M, Naitoh H, Mori M, Matsuda I", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "reference": [ { "type": "PubMed", "id": "1463019", "url": "https://glygen.org/publication/PubMed/1463019" } ] }, { "title": "Mammalian N-acetylglutamate synthase.", "journal": "Molecular genetics and metabolism", "date": "2004", "authors": "Morizono H, Caldovic L, Shi D, Tuchman M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "15050968", "url": "https://glygen.org/publication/PubMed/15050968" } ] }, { "title": "Arginase I is constitutively expressed in human granulocytes and participates in fungicidal activity.", "journal": "Blood", "date": "2005-03-15", "authors": "Munder Markus, Mollinedo Faustino, Calafat Jero, Canchado Javier, Gil-Lamaignere Cristina, Fuentes Jos\u00e9 M, Luckner Claudia, Doschko Gwendolyn, Soler Germ\u00e1n, Eichmann Klaus, M\u00fcller Frank-Michael, Ho Anthony D, Goerner Martin, Modolell Manuel", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "reference": [ { "type": "PubMed", "id": "15546957", "url": "https://glygen.org/publication/PubMed/15546957" } ] }, { "title": "Molecular genetic study of human arginase deficiency.", "journal": "Am. J. Hum. Genet.", "date": "1992", "authors": "Grody WW, Klein D, Dodson AE, Kern RM, Wissmann PB, Goodman BK, Bassand P, Marescau B, Kang SS, Leonard JV, et al.", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "reference": [ { "type": "PubMed", "id": "1598908", "url": "https://glygen.org/publication/PubMed/1598908" } ] }, { "title": "Crystal structure of human arginase I at 1.29-A resolution and exploration of inhibition in the immune response.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2005", "authors": "Di Costanzo L, Sabio G, Mora A, Rodriguez PC, Ochoa AC, Centeno F, Christianson DW", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" }, { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "16141327", "url": "https://glygen.org/publication/PubMed/16141327" } ] }, { "title": "Suppression of T-cell functions by human granulocyte arginase.", "journal": "Blood", "date": "2006-09-01", "authors": "Munder Markus, Schneider Henriette, Luckner Claudia, Giese Thomas, Langhans Claus-Dieter, Fuentes Jose M, Kropf Pascale, Mueller Ingrid, Kolb Armin, Modolell Manuel, Ho Anthony D", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "reference": [ { "type": "PubMed", "id": "16709924", "url": "https://glygen.org/publication/PubMed/16709924" } ] }, { "title": "Crystal structure of human arginase I complexed with thiosemicarbazide reveals an unusual thiocarbonyl mu-sulfide ligand in the binuclear manganese cluster.", "journal": "J. Am. Chem. Soc.", "date": "2007", "authors": "Di Costanzo L, Pique ME, Christianson DW", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "reference": [ { "type": "PubMed", "id": "17469833", "url": "https://glygen.org/publication/PubMed/17469833" } ] }, { "title": "Restructuring of the dinucleotide-binding fold in an NADP(H) sensor protein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Zheng X, Dai X, Zhao Y, Chen Q, Lu F, Yao D, Yu Q, Liu X, Zhang C, Gu X, Luo M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "17496144", "url": "https://glygen.org/publication/PubMed/17496144" } ] }, { "title": "Expression, purification, assay, and crystal structure of perdeuterated human arginase I.", "journal": "Arch. Biochem. Biophys.", "date": "2007", "authors": "Di Costanzo L, Moulin M, Haertlein M, Meilleur F, Christianson DW", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "reference": [ { "type": "PubMed", "id": "17562323", "url": "https://glygen.org/publication/PubMed/17562323" } ] }, { "title": "An NADPH sensor protein (HSCARG) down-regulates nitric oxide synthesis by association with argininosuccinate synthetase and is essential for epithelial cell viability.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Zhao Y, Zhang J, Li H, Li Y, Ren J, Luo M, Zheng X", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "18263583", "url": "https://glygen.org/publication/PubMed/18263583" } ] }, { "title": "Structure of human argininosuccinate synthetase.", "journal": "Acta crystallographica. Section D, Biological crystallography", "date": "2008", "authors": "Karlberg T, Collins R, van den Berg S, Flores A, Hammarstrom M, Hogbom M, Holmberg Schiavone L, Uppenberg J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "18323623", "url": "https://glygen.org/publication/PubMed/18323623" } ] }, { "title": "Synthesis of (2S)-2-amino-7,8-epoxyoctanoic acid and structure of its metal-bridging complex with human arginase I.", "journal": "Org. Biomol. Chem.", "date": "2008", "authors": "Zakharian TY, Di Costanzo L, Christianson DW", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "reference": [ { "type": "PubMed", "id": "18802628", "url": "https://glygen.org/publication/PubMed/18802628" } ] }, { "title": "Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.", "journal": "Human mutation", "date": "2009", "authors": "Engel K, Hohne W, Haberle J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "19006241", "url": "https://glygen.org/publication/PubMed/19006241" } ] }, { "title": "Regulation of NK cell function by human granulocyte arginase.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2009-05-01", "authors": "Oberlies Johanna, Watzl Carsten, Giese Thomas, Luckner Claudia, Kropf Pascale, M\u00fcller Ingrid, Ho Anthony D, Munder Markus", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "reference": [ { "type": "PubMed", "id": "19380772", "url": "https://glygen.org/publication/PubMed/19380772" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "P05089-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05089-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "title": "Binding of alpha,alpha-disubstituted amino acids to arginase suggests new avenues for inhibitor design.", "journal": "J. Med. Chem.", "date": "2011", "authors": "Ilies Monica, Di Costanzo Luigi, Dowling Daniel P, Thorn Katherine J, Christianson David W", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "reference": [ { "type": "PubMed", "id": "21728378", "url": "https://glygen.org/publication/PubMed/21728378" } ] }, { "title": "Expression of human liver arginase in Escherichia coli. Purification and properties of the product.", "journal": "Biochem. J.", "date": "1990", "authors": "Ikemoto M, Tabata M, Miyake T, Kono T, Mori M, Totani M, Murachi T", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "reference": [ { "type": "PubMed", "id": "2241902", "url": "https://glygen.org/publication/PubMed/2241902" } ] }, { "title": "Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1990", "authors": "Walker DC, McCloskey DA, Simard LR, McInnes RR", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "2263616", "url": "https://glygen.org/publication/PubMed/2263616" } ] }, { "title": "Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes.", "journal": "Gene", "date": "2012", "authors": "Carvalho DR, Brand GD, Brum JM, Takata RI, Speck-Martins CE, Pratesi R", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "reference": [ { "type": "PubMed", "id": "22959135", "url": "https://glygen.org/publication/PubMed/22959135" } ] }, { "title": "Proteome profiling of human neutrophil granule subsets, secretory vesicles, and cell membrane: correlation with transcriptome profiling of neutrophil precursors.", "journal": "Journal of leukocyte biology", "date": "2013", "authors": "Rorvig S, Ostergaard O, Heegaard NH, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "23650620", "url": "https://glygen.org/publication/PubMed/23650620" } ] }, { "title": "Microenvironments in tuberculous granulomas are delineated by distinct populations of macrophage subsets and expression of nitric oxide synthase and arginase isoforms.", "journal": "J. Immunol.", "date": "2013", "authors": "Mattila Joshua T, Ojo Olabisi O, Kepka-Lenhart Diane, Marino Simeone, Kim Jin Hee, Eum Seok Yong, Via Laura E, Barry Clifton E, Klein Edwin, Kirschner Denise E, Morris Sidney M, Lin Philana Ling, Flynn Joanne L", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "reference": [ { "type": "PubMed", "id": "23749634", "url": "https://glygen.org/publication/PubMed/23749634" } ] }, { "title": "Five novel mutations in ARG1 gene in Chinese patients of argininemia.", "journal": "Pediatric neurology", "date": "2013", "authors": "Wu TF, Liu YP, Li XY, Wang Q, Ding Y, Ma YY, Song JQ, Yang YL", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "reference": [ { "type": "PubMed", "id": "23859858", "url": "https://glygen.org/publication/PubMed/23859858" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" }, { "database": "iPTMnet", "id": "P05089", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05089" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Proteomic analysis of O-GlcNAcylated proteins in invasive ductal breast carcinomas with and without lymph node metastasis.", "journal": "Amino acids", "date": "2016", "authors": "Jiang K, Gao Y, Hou W, Tian F, Ying W, Li L, Bai B, Hou G, Wang PG, Zhang L", "evidence": [ { "database": "O-GlcNAc Database", "id": "P05089", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05089" } ], "reference": [ { "type": "PubMed", "id": "26374642", "url": "https://glygen.org/publication/PubMed/26374642" } ] }, { "title": "Arginase 1 is an innate lymphoid-cell-intrinsic metabolic checkpoint controlling type 2 inflammation.", "journal": "Nat. Immunol.", "date": "2016", "authors": "Monticelli Laurel A, Buck Michael D, Flamar Anne-Laure, Saenz Steven A, Tait Wojno Elia D, Yudanin Naomi A, Osborne Lisa C, Hepworth Matthew R, Tran Sara V, Rodewald Hans-Reimer, Shah Hardik, Cross Justin R, Diamond Joshua M, Cantu Edward, Christie Jason D, Pearce Erika L, Artis David", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "reference": [ { "type": "PubMed", "id": "27043409", "url": "https://glygen.org/publication/PubMed/27043409" } ] }, { "title": "CMTM6 maintains the expression of PD-L1 and regulates anti-tumour immunity.", "journal": "Nature", "date": "2017", "authors": "Burr ML, Sparbier CE, Chan YC, Williamson JC, Woods K, Beavis PA, Lam EYN, Henderson MA, Bell CC, Stolzenburg S, Gilan O, Bloor S, Noori T, Morgens DW, Bassik MC, Neeson PJ, Behren A, Darcy PK, Dawson SJ, Voskoboinik I, Trapani JA, Cebon J, Lehner PJ, Dawson MA", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "reference": [ { "type": "PubMed", "id": "28813417", "url": "https://glygen.org/publication/PubMed/28813417" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P05089", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05089" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Combinatorial regulation of hepatic cytoplasmic signaling and nuclear transcriptional events by the OGT/REV-ERBalpha complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Berthier A, Vinod M, Porez G, Steenackers A, Alexandre J, Yamakawa N, Gheeraert C, Ploton M, Marechal X, Dubois-Chevalier J, Hovasse A, Schaeffer-Reiss C, Cianferani S, Rolando C, Bray F, Duez H, Eeckhoute J, Lefebvre T, Staels B, Lefebvre P", "evidence": [ { "database": "O-GlcNAc Database", "id": "P05089", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05089" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "Human liver-type arginase gene: structure of the gene and analysis of the promoter region.", "journal": "Nucleic Acids Res.", "date": "1988", "authors": "Takiguchi M, Haraguchi Y, Mori M", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "reference": [ { "type": "PubMed", "id": "3174433", "url": "https://glygen.org/publication/PubMed/3174433" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P05089", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05089" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Molecular cloning and nucleotide sequence of cDNA for human liver arginase.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1987", "authors": "Haraguchi Y, Takiguchi M, Amaya Y, Kawamoto S, Matsuda I, Mori M", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "reference": [ { "type": "PubMed", "id": "3540966", "url": "https://glygen.org/publication/PubMed/3540966" } ] }, { "title": "Arginase-1+ bone marrow myeloid cells are reduced in myeloproliferative neoplasms and correlate with clinical phenotype, fibrosis, and molecular driver.", "journal": "Cancer medicine", "date": "2022-12-15", "authors": "Bonometti Arturo, Borsani Oscar, Rumi Elisa, Ferretti Virginia Valeria, Dioli Claudia, Lucato Elena, Paulli Marco, Boveri Emanuela", "evidence": [ { "database": "RefSeq", "id": "NP_000036", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000036" } ], "reference": [ { "type": "PubMed", "id": "36524315", "url": "https://glygen.org/publication/PubMed/36524315" } ] }, { "title": "Arginase 1 is a key driver of immune suppression in pancreatic cancer.", "journal": "eLife", "date": "2023-02-02", "authors": "Menjivar Rosa Elena, Nwosu Zeribe C, Du Wenting, Donahue Katelyn L, Hong Hanna S, Espinoza Carlos, Brown Kristee, Velez-Delgado Ashley, Yan Wei, Lima Fatima, Bischoff Allison, Kadiyala Padma, Salas-Escabillas Daniel, Crawford Howard C, Bednar Filip, Carpenter Eileen, Zhang Yaqing, Halbrook Christopher J, Lyssiotis Costas A, Pasca di Magliano Marina", "evidence": [ { "database": "RefSeq", "id": "NP_000036", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000036" } ], "reference": [ { "type": "PubMed", "id": "36727849", "url": "https://glygen.org/publication/PubMed/36727849" } ] }, { "title": "Arginase-1 promotes lens epithelial-to-mesenchymal transition in different models of anterior subcapsular cataract.", "journal": "Cell communication and signaling : CCS", "date": "2023-09-18", "authors": "Li Qingyu, Wang Yuchuan, Shi Luoluo, Wang Qing, Yang Guang, Deng Lin, Tian Ye, Hua Xia, Yuan Xiaoyong", "evidence": [ { "database": "RefSeq", "id": "NP_000036", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000036" } ], "reference": [ { "type": "PubMed", "id": "37723490", "url": "https://glygen.org/publication/PubMed/37723490" } ] }, { "title": "DDR2-regulated arginase activity in ovarian cancer-associated fibroblasts promotes collagen production and tumor progression.", "journal": "Oncogene", "date": "2024-01", "authors": "Akinjiyan Favour A, Ibitoye Zainab, Zhao Peinan, Shriver Leah P, Patti Gary J, Longmore Gregory D, Fuh Katherine C", "evidence": [ { "database": "RefSeq", "id": "NP_000036", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000036" } ], "reference": [ { "type": "PubMed", "id": "37996700", "url": "https://glygen.org/publication/PubMed/37996700" } ] }, { "title": "Isolation and characterization of argininosuccinate synthetase from human liver.", "journal": "Biochemistry", "date": "1979", "authors": "O'Brien WE", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "518841", "url": "https://glygen.org/publication/PubMed/518841" } ] }, { "title": "Human carbamylphosphate synthetase I. Stabilization, purification, and partial characterization of the enzyme from human liver.", "journal": "The Journal of biological chemistry", "date": "1980", "authors": "Pierson DL, Brien JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "6249820", "url": "https://glygen.org/publication/PubMed/6249820" } ] }, { "title": "Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase.", "journal": "Science (New York, N.Y.)", "date": "1984", "authors": "Horwich AL, Fenton WA, Williams KR, Kalousek F, Kraus JP, Doolittle RF, Konigsberg W, Rosenberg LE", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "6372096", "url": "https://glygen.org/publication/PubMed/6372096" } ] }, { "title": "Molecular basis of phenotypic variation in patients with argininemia.", "journal": "Human genetics", "date": "1995", "authors": "Uchino T, Snyderman SE, Lambert M, Qureshi IA, Shapira SK, Sansaricq C, Smit LM, Jakobs C, Matsuda I", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" }, { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "7649538", "url": "https://glygen.org/publication/PubMed/7649538" } ] }, { "title": "Targeting of proteins to granule subsets is determined by timing and not by sorting: The specific granule protein NGAL is localized to azurophil granules when expressed in HL-60 cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Le Cabec V, Cowland JB, Calafat J, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "8692836", "url": "https://glygen.org/publication/PubMed/8692836" } ] }, { "title": "Molecular cloning of cDNA for nonhepatic mitochondrial arginase (arginase II) and comparison of its induction with nitric oxide synthase in a murine macrophage-like cell line.", "journal": "FEBS letters", "date": "1996", "authors": "Gotoh T, Sonoki T, Nagasaki A, Terada K, Takiguchi M, Mori M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "8898077", "url": "https://glygen.org/publication/PubMed/8898077" } ] }, { "title": "Human argininosuccinate lyase: a structural basis for intragenic complementation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Turner MA, Simpson A, McInnes RR, Howell PL", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "9256435", "url": "https://glygen.org/publication/PubMed/9256435" } ] }, { "title": "The human arginases and arginase deficiency.", "journal": "Journal of inherited metabolic disease", "date": "1998", "authors": "Iyer R, Jenkinson CP, Vockley JG, Kern RM, Grody WW, Cederbaum S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "9686347", "url": "https://glygen.org/publication/PubMed/9686347" } ] } ], "pathway": [ { "id": "hsa:383", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:383", "resource": "KEGG Pathway" }, { "id": "R-HSA-6798695", "name": "Neutrophil degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "resource": "Reactome", "description": "Neutrophil degranulation" }, { "id": "R-HSA-70635", "name": "Urea cycle", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635", "resource": "Reactome", "description": "Urea cycle" } ], "orthologs": [ { "uniprot_canonical_ac": "O76895-1", "protein_name": "Arginase", "gene_name": "arg", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MWWSRKFASRSLRLHRLKSTGSTAPREPEQSLGIIGVPFAKGQAKQGVELAPDLLRQSSLRQVLQSSHDGLVIRDYGNLQYAVDEPLLQQQRVHYHHIRNYADFMACNRALIEQVKLMLVENTQFLAIGGDHAIGFGSVAGHLQHTPNLSLVWIDAHADINLHSTSQSGNIHGMPVSFLLEQLRNTWQHAGLQEIAPNCLPKDQLVYIGLRDIDPYEAFILNKVGIRYYAMDTIDRVGVPKIIEMTLDALNPQNKIHVSFDIDALDSNVAPSTGTAVRGGLTLREGISIVEALRDTKRVQGVDLVEINPKLGSERDVRTTVESGLEILKSMFGYRRSGRWSNIDTGILGSD", "length": 351 }, "evidence": [ { "id": "P05089", "url": "https://omabrowser.org/oma/group/P05089/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "P07824-1", "protein_name": "Arginase-1", "gene_name": "Arg1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSSKPKPIEIIGAPFSKGQPRGGVEKGPAALRKAGLVEKLKETEYNVRDHGDLAFVDVPNDSPFQIVKNPRSVGKANEQLAAVVAETQKNGTISVVLGGDHSMAIGSISGHARVHPDLCVIWVDAHTDINTPLTTSSGNLHGQPVAFLLKELKGKFPDVPGFSWVTPCISAKDIVYIGLRDVDPGEHYIIKTLGIKYFSMTEVDKLGIGKVMEETFSYLLGRKKRPIHLSFDVDGLDPVFTPATGTPVVGGLSYREGLYITEEIYKTGLLSGLDIMEVNPTLGKTPEEVTRTVNTAVALTLSCFGTKREGNHKPETDYLKPPK", "length": 323 }, "evidence": [ { "id": "45920227", "url": "http://www.informatics.jax.org/homology/45920227", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q61176-1", "protein_name": "Arginase-1", "gene_name": "Arg1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSSKPKSLEIIGAPFSKGQPRGGVEKGPAALRKAGLLEKLKETEYDVRDHGDLAFVDVPNDSSFQIVKNPRSVGKANEELAGVVAEVQKNGRVSVVLGGDHSLAVGSISGHARVHPDLCVIWVDAHTDINTPLTTSSGNLHGQPVSFLLKELKGKFPDVPGFSWVTPCISAKDIVYIGLRDVDPGEHYIIKTLGIKYFSMTEVDKLGIGKVMEETFSYLLGRKKRPIHLSFDVDGLDPAFTPATGTPVLGGLSYREGLYITEEIYKTGLLSGLDIMEVNPTLGKTAEEVKSTVNTAVALTLACFGTQREGNHKPGTDYLKPPK", "length": 323 }, "evidence": [ { "id": "45920227", "url": "http://www.informatics.jax.org/homology/45920227", "database": "MGI" }, { "id": "P05089", "url": "https://omabrowser.org/oma/group/P05089/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q95JC8-1", "protein_name": "Arginase-1", "gene_name": "ARG1", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MSFKSQSIGIIGAPFSKGQPRGGVEEGPTALRKAGLLEKLKEQECDVKDYGDLCFADVPNDTPFQIVKNPRSVGKANQQLADVVAEIKKNGRTSLVLGGDHSMAIGSISGHARVHPDLCVIWVDAHTDINTPLTTTTGNLHGQPVSFLLKELKEKIPEVPGLSWVTPCLSAKDIVYIGLRDVDPAEHYILKTLGIKYFSMIEVDKLGIGKVMEEAFSYLLGRKKRPIHLSFDVDGLDPFFTPATGTPVHGGLSYREGIYITEEIYKTGLLSGLDIMEVNPSLGKTPEEVTRTVNTAVALVLACFGVAREGNHKPIDYLKPPK", "length": 322 }, "evidence": [ { "id": "P05089", "url": "https://omabrowser.org/oma/group/P05089/", "database": "OMA" } ], "common_name": "Pig" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "pmid": "" }, { "name": "arginase activity", "id": "GO:0004053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004053", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "pmid": "" }, { "name": "hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines", "id": "GO:0016813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016813", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "pmid": "" }, { "name": "manganese ion binding", "id": "GO:0030145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030145", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 12, "go_terms": [ { "name": "urea cycle", "id": "GO:0000050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000050", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "pmid": "" }, { "name": "arginine metabolic process", "id": "GO:0006525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006525", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "pmid": "" }, { "name": "negative regulation of T cell proliferation", "id": "GO:0042130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042130", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "pmid": "" }, { "name": "defense response to protozoan", "id": "GO:0042832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042832", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "pmid": "" }, { "name": "arginine catabolic process", "id": "GO:0006527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006527", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "pmid": "" }, { "name": "arginine catabolic process to ornithine", "id": "GO:0019547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019547", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "pmid": "" }, { "name": "negative regulation of activated T cell proliferation", "id": "GO:0046007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046007", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "pmid": "" }, { "name": "negative regulation of type II interferon-mediated signaling pathway", "id": "GO:0060336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060336", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "pmid": "" }, { "name": "positive regulation of neutrophil mediated killing of fungus", "id": "GO:0070965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070965", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "pmid": "" }, { "name": "negative regulation of T-helper 2 cell cytokine production", "id": "GO:2000552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000552", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "pmid": "" }, { "name": "azurophil granule lumen", "id": "GO:0035578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035578", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "pmid": "" }, { "name": "specific granule lumen", "id": "GO:0035580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035580", "evidence": [ { "database": "UniProtKB", "id": "P05089", "url": "https://www.uniprot.org/uniprot/P05089" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 60, "end_pos": 62, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "20569", "name": "", "equation": "H2O + L-arginine = L-ornithine + urea", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O08701-1", "P07824-1", "Q0D2L3-1", "P78540-1", "P05089-1", "Q9BSE5-1", "Q61176-1", "O08691-1", "A2AS89-1", "P00812-1", "O76895-1" ], "evidence": [ { "id": "20569", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/20569" } ] }, { "id": "R-HSA-6798749", "name": "Exocytosis of specific granule lumen proteins", "equation": "", "summary": "Secondary (specific) granules are peroxidase-negative and rich in antimicrobial substances (Joiner et al. 1989, Rorvig et al. 2012). They are more irregular and elongated in form than azurophil granules (Bainton et al. 1971). This might reflect volume adjustment in azurophil granules, which are known to proteolytically process a significant fraction of the proteins that are targeted to them, while little or no processing and therefore no increase in osmotic activity due to proteolysis has been observed in secondary granules (Borregaard & Cowland 1997). Secondary and tertiary granules have overlapping contents but can be discriminated by their intrinsic buoyant densities when centrifuged on gradient media (Kjeldsen et al. 1994).", "cellular_location": "extracellular region, specific granule lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9UBR2-1", "P09110-1", "P49184-1", "Q92820-1", "Q99519-1", "P08246-1", "P51159-1", "Q9NQR4-1", "P07339-1", "P19801-1", "P05089-1", "Q8WVQ1-1", "P29350-1", "Q13231-1", "Q16769-1", "P61626-1", "P02788-1", "P42685-1", "P22894-1", "Q9Y251-1", "O00764-1", "O00391-1" ], "evidence": [ { "id": "R-HSA-6798749", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798749" } ] }, { "id": "R-HSA-6798751", "name": "Exocytosis of azurophil granule lumen proteins", "equation": "", "summary": "Azurophil or primary granules were originally defined by their high content of myeloperoxidase (MPO) and their affinity for the basic dye azure A (Spicer & Hardin 1969). Azurophil granules are generally described as spherical. Like lysosomes, they contain CD63 in their membrane (Cham et al. 1994) but are regarded as specialized secretory granules rather than lysosomes (Cieutat et al. 1998). Azurophil granules undergo limited exocytosis in response to stimulation (Sengelov et al. 1993, Faurschou et al. 2002), their primary role is believed to be killing and degradation of engulfed microbes in the phagolysosome (Joiner et al. 1989).; ; MPO reacts with H2O2 formed by NADPH oxidase, increasing its toxicity by formation of hypochlorous acid and other chlorination products, tyrosine radicals and reactive nitrogen intermediates which attack the surface of microbes (Klebanoff et al. 2013).;", "cellular_location": "extracellular region, azurophil granule lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q05655-1", "P07686-1", "P12724-1", "P04066-1", "Q92820-1", "Q6XQN6-1", "Q99536-1", "Q9BRF8-1", "Q9UHL4-1", "P08246-1", "P34059-1", "P15586-1", "P24158-1", "Q9Y2J8-1", "P10619-1", "O00584-1", "P53396-1", "P55072-1", "P06280-1", "P28482-1", "Q9NZK5-1", "P20933-1", "P05089-1", "P15289-1", "P15848-1", "P16278-1", "Q9H7Z7-1", "P53634-1", "P08311-1", "Q9BTY2-1", "P00387-1", "P30041-1", "P05164-1", "Q8NBS9-1", "P11216-1", "P10153-1", "P61626-1", "P08236-1", "P42685-1", "P07478-1", "O00754-1", "P20839-1" ], "evidence": [ { "id": "R-HSA-6798751", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798751" } ] }, { "id": "R-HSA-70569", "name": "arginine + H2O => ornithine + urea [ARG1]", "equation": "", "summary": "Cytosolic Arginase 1 (ARG1) trimer catalyzes the hydrolysis of arginine to yield ornithine and urea (DiCostanzo et al. 2005). Patients expressing mutated forms of the enzyme with diminished in vitro arginase activity can accumulate arginine to pathogenic levels in the blood (e.g., Uchino et al. 1995).", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-29468" ], "output_participant_list": [ "R-ALL-29514" ], "enzyme_list": [ "P05089-1" ], "evidence": [ { "id": "R-HSA-70569", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70569" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-29468", "participant_name": "L-Arg [cytosol]", "crossref": [ { "id": "32682", "database": "ChEBI", "url": "" }, { "id": "000001532525", "database": "ZINC", "url": "" }, { "id": "C00062", "database": "COMPOUND", "url": "" }, { "id": "HMDB0062762", "database": "HMDB Metabolite", "url": "" }, { "id": "C00062", "database": "COMPOUND", "url": "" }, { "id": "32682", "database": "ChEBI", "url": "" }, { "id": "HMDB0062762", "database": "HMDB Metabolite", "url": "" }, { "id": "000001532525", "database": "ZINC", "url": "" }, { "id": "32682", "database": "ChEBI", "url": "" }, { "id": "000001532525", "database": "ZINC", "url": "" }, { "id": "HMDB0062762", "database": "HMDB Metabolite", "url": "" }, { "id": "C00062", "database": "COMPOUND", "url": "" }, { "id": "HMDB0062762", "database": "HMDB Metabolite", "url": "" }, { "id": "C00062", "database": "COMPOUND", "url": "" }, { "id": "000001532525", "database": "ZINC", "url": "" }, { "id": "32682", "database": "ChEBI", "url": "" }, { "id": "HMDB0062762", "database": "HMDB Metabolite", "url": "" }, { "id": "C00062", "database": "COMPOUND", "url": "" }, { "id": "000001532525", "database": "ZINC", "url": "" }, { "id": "32682", "database": "ChEBI", "url": "" }, { "id": "C00062", "database": "COMPOUND", "url": "" }, { "id": "32682", "database": "ChEBI", "url": "" }, { "id": "HMDB0062762", "database": "HMDB Metabolite", "url": "" }, { "id": "000001532525", "database": "ZINC", "url": "" }, { "id": "C00062", "database": "COMPOUND", "url": "" }, { "id": "32682", "database": "ChEBI", "url": "" }, { "id": "HMDB0062762", "database": "HMDB Metabolite", "url": "" }, { "id": "000001532525", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-ALL-29514", "participant_name": "Urea [cytosol]", "crossref": [ { "id": "C00086", "database": "COMPOUND", "url": "" }, { "id": "16199", "database": "ChEBI", "url": "" }, { "id": "HMDB0000294", "database": "HMDB Metabolite", "url": "" }, { "id": "000008214514", "database": "ZINC", "url": "" }, { "id": "8144973", "database": "PubChem Substance", "url": "" }, { "id": "4539", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "000008214514", "database": "ZINC", "url": "" }, { "id": "16199", "database": "ChEBI", "url": "" }, { "id": "4539", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "C00086", "database": "COMPOUND", "url": "" }, { "id": "8144973", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0000294", "database": "HMDB Metabolite", "url": "" }, { "id": "C00086", "database": "COMPOUND", "url": "" }, { "id": "16199", "database": "ChEBI", "url": "" }, { "id": "HMDB0000294", "database": "HMDB Metabolite", "url": "" }, { "id": "000008214514", "database": "ZINC", "url": "" }, { "id": "8144973", "database": "PubChem Substance", "url": "" }, { "id": "4539", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "C00086", "database": "COMPOUND", "url": "" }, { "id": "16199", "database": "ChEBI", "url": "" }, { "id": "HMDB0000294", "database": "HMDB Metabolite", "url": "" }, { "id": "000008214514", "database": "ZINC", "url": "" }, { "id": "8144973", "database": "PubChem Substance", "url": "" }, { "id": "4539", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "16199", "database": "ChEBI", "url": "" }, { "id": "4539", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "000008214514", "database": "ZINC", "url": "" }, { "id": "C00086", "database": "COMPOUND", "url": "" }, { "id": "8144973", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0000294", "database": "HMDB Metabolite", "url": "" }, { "id": "C00086", "database": "COMPOUND", "url": "" }, { "id": "16199", "database": "ChEBI", "url": "" }, { "id": "HMDB0000294", "database": "HMDB Metabolite", "url": "" }, { "id": "000008214514", "database": "ZINC", "url": "" }, { "id": "8144973", "database": "PubChem Substance", "url": "" }, { "id": "4539", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "C00086", "database": "COMPOUND", "url": "" }, { "id": "16199", "database": "ChEBI", "url": "" }, { "id": "HMDB0000294", "database": "HMDB Metabolite", "url": "" }, { "id": "000008214514", "database": "ZINC", "url": "" }, { "id": "8144973", "database": "PubChem Substance", "url": "" }, { "id": "4539", "database": "Guide to Pharmacology - Ligands", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "A2AS89", "gene_name": "Agmat", "activity": [ { "ec_number": "3.5.3.1", "activity": "H2O + L-arginine = L-ornithine + urea.", "evidence": [ { "id": "A2AS89", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A2AS89" } ] }, { "ec_number": "3.5.3.-", "activity": "", "evidence": [ { "id": "A2AS89", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A2AS89" } ] }, { "ec_number": "3.5.3.17", "activity": "4-guanidinobutanoate + H2O = 4-aminobutanoate + urea.", "evidence": [ { "id": "A2AS89", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A2AS89" } ] }, { "ec_number": "3.5.3.7", "activity": "4-guanidinobutanoate + H2O = 4-aminobutanoate + urea.", "evidence": [ { "id": "A2AS89", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A2AS89" } ] } ] }, { "uniprot_ac": "O00391", "gene_name": "QSOX1", "activity": [ { "ec_number": "1.8.3.2", "activity": "O2 + 2 R'C(R)SH = H2O2 + R'C(R)S-S(R)CR'.", "evidence": [ { "id": "O00391", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00391" } ] }, { "ec_number": "1.8.3.2", "activity": "", "evidence": [ { "id": "O00391", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00391" } ] } ] }, { "uniprot_ac": "O00584", "gene_name": "RNASET2", "activity": [ { "ec_number": "4.6.1.19", "activity": "a ribonucleotidyl-ribonucleotide-RNA + H2O = a 3'-end 3'-phospho-ribonucleotide-RNA + a 5'-end dephospho-ribonucleoside-RNA + H(+).", "evidence": [ { "id": "O00584", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00584" } ] }, { "ec_number": "4.6.1.19", "activity": "", "evidence": [ { "id": "O00584", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00584" } ] } ] }, { "uniprot_ac": "O00754", "gene_name": "MAN2B1", "activity": [ { "ec_number": "3.2.1.24", "activity": "Hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides.", "evidence": [ { "id": "O00754", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00754" } ] }, { "ec_number": "3.2.1.24", "activity": "", "evidence": [ { "id": "O00754", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00754" } ] } ] }, { "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": "O08691", "gene_name": "Arg2", "activity": [ { "ec_number": "3.5.3.1", "activity": "H2O + L-arginine = L-ornithine + urea.", "evidence": [ { "id": "O08691", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O08691" } ] }, { "ec_number": "3.5.3.1", "activity": "", "evidence": [ { "id": "O08691", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O08691" } ] } ] }, { "uniprot_ac": "O08701", "gene_name": "Arg2", "activity": [ { "ec_number": "3.5.3.1", "activity": "H2O + L-arginine = L-ornithine + urea.", "evidence": [ { "id": "O08701", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O08701" } ] }, { "ec_number": "3.5.3.1", "activity": "", "evidence": [ { "id": "O08701", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O08701" } ] } ] }, { "uniprot_ac": "O76895", "gene_name": "arg", "activity": [ { "ec_number": "3.5.3.1", "activity": "H2O + L-arginine = L-ornithine + urea.", "evidence": [ { "id": "O76895", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O76895" } ] }, { "ec_number": "3.5.3.1", "activity": "", "evidence": [ { "id": "O76895", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O76895" } ] } ] }, { "uniprot_ac": "P00387", "gene_name": "CYB5R3", "activity": [ { "ec_number": "1.6.2.2", "activity": "2 Fe(III)-[cytochrome b5] + NADH = 2 Fe(II)-[cytochrome b5] + H(+) + NAD(+).", "evidence": [ { "id": "P00387", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00387" } ] }, { "ec_number": "1.6.2.2", "activity": "", "evidence": [ { "id": "P00387", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00387" } ] } ] }, { "uniprot_ac": "P00812", "gene_name": "CAR1", "activity": [ { "ec_number": "3.5.3.1", "activity": "H2O + L-arginine = L-ornithine + urea.", "evidence": [ { "id": "P00812", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00812" } ] }, { "ec_number": "3.5.3.1", "activity": "", "evidence": [ { "id": "P00812", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00812" } ] } ] }, { "uniprot_ac": "P02788", "gene_name": "LTF", "activity": [ { "ec_number": "3.4.21.-", "activity": "", "evidence": [ { "id": "P02788", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02788" } ] } ] }, { "uniprot_ac": "P04066", "gene_name": "FUCA1", "activity": [ { "ec_number": "3.2.1.51", "activity": "an alpha-L-fucoside + H2O = an alcohol + L-fucose.", "evidence": [ { "id": "P04066", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04066" } ] }, { "ec_number": "3.2.1.51", "activity": "", "evidence": [ { "id": "P04066", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04066" } ] } ] }, { "uniprot_ac": "P05089", "gene_name": "ARG1", "activity": [ { "ec_number": "3.5.3.1", "activity": "H2O + L-arginine = L-ornithine + urea.", "evidence": [ { "id": "P05089", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05089" } ] }, { "ec_number": "3.5.3.1", "activity": "", "evidence": [ { "id": "P05089", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05089" } ] } ] }, { "uniprot_ac": "P05164", "gene_name": "MPO", "activity": [ { "ec_number": "1.11.2.2", "activity": "chloride + H(+) + H2O2 = H2O + hypochlorous acid.", "evidence": [ { "id": "P05164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05164" } ] }, { "ec_number": "1.11.2.2", "activity": "", "evidence": [ { "id": "P05164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05164" } ] } ] }, { "uniprot_ac": "P06280", "gene_name": "GLA", "activity": [ { "ec_number": "3.2.1.-", "activity": "", "evidence": [ { "id": "P06280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06280" } ] }, { "ec_number": "3.2.1.22", "activity": "a globoside Gb3Cer (d18:1(4E)) + H2O = a beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + D-galactose.", "evidence": [ { "id": "P06280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06280" } ] }, { "ec_number": "3.2.1.22", "activity": "", "evidence": [ { "id": "P06280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06280" } ] } ] }, { "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": "P07478", "gene_name": "PRSS2", "activity": [ { "ec_number": "3.4.21.4", "activity": "Preferential cleavage: Arg-|-Xaa, Lys-|-Xaa.", "evidence": [ { "id": "P07478", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07478" } ] }, { "ec_number": "3.4.21.4", "activity": "", "evidence": [ { "id": "P07478", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07478" } ] } ] }, { "uniprot_ac": "P07686", "gene_name": "HEXB", "activity": [ { "ec_number": "3.2.1.52", "activity": "Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.", "evidence": [ { "id": "P07686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07686" } ] }, { "ec_number": "3.2.1.52", "activity": "", "evidence": [ { "id": "P07686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07686" } ] } ] }, { "uniprot_ac": "P07824", "gene_name": "Arg1", "activity": [ { "ec_number": "3.5.3.1", "activity": "H2O + L-arginine = L-ornithine + urea.", "evidence": [ { "id": "P07824", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07824" } ] }, { "ec_number": "3.5.3.1", "activity": "", "evidence": [ { "id": "P07824", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07824" } ] } ] }, { "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": "P08246", "gene_name": "ELANE", "activity": [ { "ec_number": "3.4.21.37", "activity": "Hydrolysis of proteins, including elastin. Preferential cleavage: Val-|-Xaa > Ala-|-Xaa.", "evidence": [ { "id": "P08246", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08246" } ] }, { "ec_number": "3.4.21.37", "activity": "", "evidence": [ { "id": "P08246", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08246" } ] } ] }, { "uniprot_ac": "P08311", "gene_name": "CTSG", "activity": [ { "ec_number": "3.4.21.20", "activity": "Specificity similar to chymotrypsin C.", "evidence": [ { "id": "P08311", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08311" } ] }, { "ec_number": "3.4.21.20", "activity": "", "evidence": [ { "id": "P08311", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08311" } ] } ] }, { "uniprot_ac": "P09110", "gene_name": "ACAA1", "activity": [ { "ec_number": "2.3.1.9", "activity": "2 acetyl-CoA = acetoacetyl-CoA + CoA.", "evidence": [ { "id": "P09110", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09110" } ] }, { "ec_number": "2.3.1.9", "activity": "", "evidence": [ { "id": "P09110", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09110" } ] }, { "ec_number": "2.3.1.16", "activity": "acetyl-CoA + an acyl-CoA = a 3-oxoacyl-CoA + CoA.", "evidence": [ { "id": "P09110", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09110" } ] }, { "ec_number": "2.3.1.155", "activity": "acetyl-CoA + tetradecanoyl-CoA = 3-oxohexadecanoyl-CoA + CoA.", "evidence": [ { "id": "P09110", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09110" } ] }, { "ec_number": "2.3.1.16", "activity": "", "evidence": [ { "id": "P09110", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09110" } ] } ] }, { "uniprot_ac": "P10153", "gene_name": "RNASE2", "activity": [ { "ec_number": "4.6.1.18", "activity": "an [RNA] containing cytidine + H2O = an [RNA]-3'-cytidine-3'-phosphate + a 5'-hydroxy-ribonucleotide-3'-[RNA].", "evidence": [ { "id": "P10153", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10153" } ] }, { "ec_number": "4.6.1.18", "activity": "", "evidence": [ { "id": "P10153", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10153" } ] } ] }, { "uniprot_ac": "P10619", "gene_name": "CTSA", "activity": [ { "ec_number": "3.4.16.-", "activity": "", "evidence": [ { "id": "P10619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10619" } ] }, { "ec_number": "3.4.16.5", "activity": "Release of a C-terminal amino acid with broad specificity.", "evidence": [ { "id": "P10619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10619" } ] }, { "ec_number": "3.4.16.5", "activity": "", "evidence": [ { "id": "P10619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10619" } ] } ] }, { "uniprot_ac": "P11216", "gene_name": "PYGB", "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": "P11216", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11216" } ] }, { "ec_number": "2.4.1.1", "activity": "", "evidence": [ { "id": "P11216", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11216" } ] } ] }, { "uniprot_ac": "P12724", "gene_name": "RNASE3", "activity": [ { "ec_number": "3.1.27.-", "activity": "", "evidence": [ { "id": "P12724", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12724" } ] } ] }, { "uniprot_ac": "P15289", "gene_name": "ARSA", "activity": [ { "ec_number": "3.1.6.8", "activity": "H2O + N-acyl-1-beta-D-(3-O-sulfo)-galactosyl-sphing-4-enine = a beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine + H(+) + sulfate.", "evidence": [ { "id": "P15289", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15289" } ] }, { "ec_number": "3.1.6.8", "activity": "", "evidence": [ { "id": "P15289", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15289" } ] } ] }, { "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": "P19801", "gene_name": "AOC1", "activity": [ { "ec_number": "1.4.3.22", "activity": "H2O + histamine + O2 = H2O2 + imidazole-4-acetaldehyde + NH4(+).", "evidence": [ { "id": "P19801", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19801" } ] }, { "ec_number": "1.4.3.22", "activity": "", "evidence": [ { "id": "P19801", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19801" } ] }, { "ec_number": "1.4.3.-", "activity": "", "evidence": [ { "id": "P19801", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19801" } ] } ] }, { "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": "P20933", "gene_name": "AGA", "activity": [ { "ec_number": "3.5.1.26", "activity": "H2O + N(4)-(beta-N-acetyl-D-glucosaminyl)-L-asparagine = H(+) + L-aspartate + N-acetyl-beta-D-glucosaminylamine.", "evidence": [ { "id": "P20933", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20933" } ] }, { "ec_number": "3.5.1.26", "activity": "", "evidence": [ { "id": "P20933", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20933" } ] } ] }, { "uniprot_ac": "P22894", "gene_name": "MMP8", "activity": [ { "ec_number": "3.4.24.34", "activity": "Cleavage of interstitial collagens in the triple helical domain. Unlike EC 3.4.24.7, this enzyme cleaves type III collagen more slowly than type I.", "evidence": [ { "id": "P22894", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22894" } ] }, { "ec_number": "3.4.24.34", "activity": "", "evidence": [ { "id": "P22894", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22894" } ] } ] }, { "uniprot_ac": "P24158", "gene_name": "PRTN3", "activity": [ { "ec_number": "3.4.21.76", "activity": "Hydrolysis of proteins, including elastin, by preferential cleavage: -Ala-|-Xaa- > -Val-|-Xaa-.", "evidence": [ { "id": "P24158", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24158" } ] }, { "ec_number": "3.4.21.76", "activity": "", "evidence": [ { "id": "P24158", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24158" } ] } ] }, { "uniprot_ac": "P28482", "gene_name": "MAPK1", "activity": [ { "ec_number": "2.7.11.24", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P28482", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28482" } ] }, { "ec_number": "2.7.11.24", "activity": "", "evidence": [ { "id": "P28482", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28482" } ] } ] }, { "uniprot_ac": "P29350", "gene_name": "PTPN6", "activity": [ { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "P29350", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29350" } ] }, { "ec_number": "3.1.3.48", "activity": "", "evidence": [ { "id": "P29350", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29350" } ] } ] }, { "uniprot_ac": "P30041", "gene_name": "PRDX6", "activity": [ { "ec_number": "1.11.1.27", "activity": "a hydroperoxide + 2 glutathione = an alcohol + glutathione disulfide + H2O.", "evidence": [ { "id": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] }, { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] }, { "ec_number": "2.3.1.23", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphocholine + CoA.", "evidence": [ { "id": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] }, { "ec_number": "1.11.1.27", "activity": "", "evidence": [ { "id": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] } ] }, { "uniprot_ac": "P34059", "gene_name": "GALNS", "activity": [ { "ec_number": "3.1.6.4", "activity": "Hydrolysis of the 6-sulfate groups of the N-acetyl-D-galactosamine 6-sulfate units of chondroitin sulfate and of the D-galactose 6-sulfate units of keratan sulfate.", "evidence": [ { "id": "P34059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P34059" } ] }, { "ec_number": "3.1.6.4", "activity": "", "evidence": [ { "id": "P34059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P34059" } ] } ] }, { "uniprot_ac": "P42685", "gene_name": "FRK", "activity": [ { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P42685", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42685" } ] }, { "ec_number": "2.7.10.2", "activity": "", "evidence": [ { "id": "P42685", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42685" } ] } ] }, { "uniprot_ac": "P49184", "gene_name": "DNASE1L1", "activity": [ { "ec_number": "3.1.21.-", "activity": "", "evidence": [ { "id": "P49184", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49184" } ] } ] }, { "uniprot_ac": "P51159", "gene_name": "RAB27A", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P51159", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51159" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P51159", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51159" } ] } ] }, { "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": "P53634", "gene_name": "CTSC", "activity": [ { "ec_number": "3.4.14.1", "activity": "Release of an N-terminal dipeptide, Xaa-Yaa-|-Zaa-, except when Xaa is Arg or Lys, or Yaa or Zaa is Pro.", "evidence": [ { "id": "P53634", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53634" } ] }, { "ec_number": "3.4.14.1", "activity": "", "evidence": [ { "id": "P53634", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53634" } ] } ] }, { "uniprot_ac": "P55072", "gene_name": "VCP", "activity": [ { "ec_number": "3.6.4.6", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P55072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55072" } ] }, { "ec_number": "3.6.4.6", "activity": "", "evidence": [ { "id": "P55072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55072" } ] } ] }, { "uniprot_ac": "P61626", "gene_name": "LYZ", "activity": [ { "ec_number": "3.2.1.17", "activity": "Hydrolysis of (1->4)-beta-linkages between N-acetylmuramic acid and N-acetyl-D-glucosamine residues in a peptidoglycan and between N-acetyl-D-glucosamine residues in chitodextrins.", "evidence": [ { "id": "P61626", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61626" } ] }, { "ec_number": "3.2.1.17", "activity": "", "evidence": [ { "id": "P61626", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61626" } ] } ] }, { "uniprot_ac": "P78540", "gene_name": "ARG2", "activity": [ { "ec_number": "3.5.3.1", "activity": "H2O + L-arginine = L-ornithine + urea.", "evidence": [ { "id": "P78540", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P78540" } ] }, { "ec_number": "3.5.3.1", "activity": "", "evidence": [ { "id": "P78540", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P78540" } ] } ] }, { "uniprot_ac": "Q05655", "gene_name": "PRKCD", "activity": [ { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "Q05655", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05655" } ] }, { "ec_number": "2.7.11.13", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q05655", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05655" } ] }, { "ec_number": "2.7.11.13", "activity": "", "evidence": [ { "id": "Q05655", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05655" } ] } ] }, { "uniprot_ac": "Q0D2L3", "gene_name": "Agmat", "activity": [ { "ec_number": "3.5.3.1", "activity": "H2O + L-arginine = L-ornithine + urea.", "evidence": [ { "id": "Q0D2L3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q0D2L3" } ] }, { "ec_number": "3.5.3.-", "activity": "", "evidence": [ { "id": "Q0D2L3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q0D2L3" } ] }, { "ec_number": "3.5.3.17", "activity": "4-guanidinobutanoate + H2O = 4-aminobutanoate + urea.", "evidence": [ { "id": "Q0D2L3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q0D2L3" } ] }, { "ec_number": "3.5.3.7", "activity": "4-guanidinobutanoate + H2O = 4-aminobutanoate + urea.", "evidence": [ { "id": "Q0D2L3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q0D2L3" } ] } ] }, { "uniprot_ac": "Q13231", "gene_name": "CHIT1", "activity": [ { "ec_number": "3.2.1.14", "activity": "Random endo-hydrolysis of N-acetyl-beta-D-glucosaminide (1->4)-beta-linkages in chitin and chitodextrins.", "evidence": [ { "id": "Q13231", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13231" } ] }, { "ec_number": "3.2.1.14", "activity": "", "evidence": [ { "id": "Q13231", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13231" } ] } ] }, { "uniprot_ac": "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": "Q61176", "gene_name": "Arg1", "activity": [ { "ec_number": "3.5.3.1", "activity": "H2O + L-arginine = L-ornithine + urea.", "evidence": [ { "id": "Q61176", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q61176" } ] }, { "ec_number": "3.5.3.1", "activity": "", "evidence": [ { "id": "Q61176", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q61176" } ] } ] }, { "uniprot_ac": "Q6XQN6", "gene_name": "NAPRT", "activity": [ { "ec_number": "6.3.4.21", "activity": "5-phospho-alpha-D-ribose 1-diphosphate + ATP + H2O + nicotinate = ADP + diphosphate + nicotinate beta-D-ribonucleotide + phosphate.", "evidence": [ { "id": "Q6XQN6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6XQN6" } ] }, { "ec_number": "6.3.4.21", "activity": "", "evidence": [ { "id": "Q6XQN6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6XQN6" } ] } ] }, { "uniprot_ac": "Q8NBS9", "gene_name": "TXNDC5", "activity": [ { "ec_number": "1.8.4.-", "activity": "", "evidence": [ { "id": "Q8NBS9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBS9" } ] }, { "ec_number": "5.3.4.1", "activity": "Catalyzes the rearrangement of -S-S- bonds in proteins.", "evidence": [ { "id": "Q8NBS9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBS9" } ] }, { "ec_number": "5.3.4.1", "activity": "", "evidence": [ { "id": "Q8NBS9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBS9" } ] } ] }, { "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": "Q92820", "gene_name": "GGH", "activity": [ { "ec_number": "3.4.19.9", "activity": "(6S)-5,6,7,8-tetrahydrofolyl-(gamma-L-Glu)(n) + (n-1) H2O = (6S)-5,6,7,8-tetrahydrofolate + (n-1) L-glutamate.", "evidence": [ { "id": "Q92820", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92820" } ] }, { "ec_number": "3.4.19.9", "activity": "", "evidence": [ { "id": "Q92820", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92820" } ] } ] }, { "uniprot_ac": "Q99519", "gene_name": "NEU1", "activity": [ { "ec_number": "3.2.1.18", "activity": "Hydrolysis of alpha-(2->3)-, alpha-(2->6)-, alpha-(2->8)- glycosidic linkages of terminal sialic acid residues in oligosaccharides, glycoproteins, glycolipids, colominic acid and synthetic substrates.", "evidence": [ { "id": "Q99519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99519" } ] }, { "ec_number": "3.2.1.18", "activity": "", "evidence": [ { "id": "Q99519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99519" } ] } ] }, { "uniprot_ac": "Q99536", "gene_name": "VAT1", "activity": [ { "ec_number": "1.-.-.-", "activity": "", "evidence": [ { "id": "Q99536", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99536" } ] } ] }, { "uniprot_ac": "Q9BRF8", "gene_name": "CPPED1", "activity": [ { "ec_number": "3.1.3.16", "activity": "H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate.", "evidence": [ { "id": "Q9BRF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BRF8" } ] }, { "ec_number": "3.1.3.16", "activity": "", "evidence": [ { "id": "Q9BRF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BRF8" } ] } ] }, { "uniprot_ac": "Q9BSE5", "gene_name": "AGMAT", "activity": [ { "ec_number": "3.5.3.1", "activity": "H2O + L-arginine = L-ornithine + urea.", "evidence": [ { "id": "Q9BSE5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BSE5" } ] }, { "ec_number": "3.5.3.-", "activity": "", "evidence": [ { "id": "Q9BSE5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BSE5" } ] }, { "ec_number": "3.5.3.17", "activity": "4-guanidinobutanoate + H2O = 4-aminobutanoate + urea.", "evidence": [ { "id": "Q9BSE5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BSE5" } ] }, { "ec_number": "3.5.3.7", "activity": "4-guanidinobutanoate + H2O = 4-aminobutanoate + urea.", "evidence": [ { "id": "Q9BSE5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BSE5" } ] } ] }, { "uniprot_ac": "Q9BTY2", "gene_name": "FUCA2", "activity": [ { "ec_number": "3.2.1.51", "activity": "an alpha-L-fucoside + H2O = an alcohol + L-fucose.", "evidence": [ { "id": "Q9BTY2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BTY2" } ] }, { "ec_number": "3.2.1.51", "activity": "", "evidence": [ { "id": "Q9BTY2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BTY2" } ] } ] }, { "uniprot_ac": "Q9H7Z7", "gene_name": "PTGES2", "activity": [ { "ec_number": "5.3.99.3", "activity": "prostaglandin H2 = prostaglandin E2.", "evidence": [ { "id": "Q9H7Z7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H7Z7" } ] }, { "ec_number": "5.3.99.3", "activity": "", "evidence": [ { "id": "Q9H7Z7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H7Z7" } ] } ] }, { "uniprot_ac": "Q9NQR4", "gene_name": "NIT2", "activity": [ { "ec_number": "3.5.1.3", "activity": "a monoamide of a dicarboxylate + H2O = a dicarboxylate + NH4(+).", "evidence": [ { "id": "Q9NQR4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NQR4" } ] }, { "ec_number": "3.5.1.3", "activity": "", "evidence": [ { "id": "Q9NQR4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NQR4" } ] } ] }, { "uniprot_ac": "Q9NZK5", "gene_name": "ADA2", "activity": [ { "ec_number": "3.5.4.4", "activity": "2'-deoxyadenosine + H(+) + H2O = 2'-deoxyinosine + NH4(+).", "evidence": [ { "id": "Q9NZK5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NZK5" } ] }, { "ec_number": "3.5.4.4", "activity": "", "evidence": [ { "id": "Q9NZK5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NZK5" } ] } ] }, { "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": "Q9UHL4", "gene_name": "DPP7", "activity": [ { "ec_number": "3.4.14.2", "activity": "Release of an N-terminal dipeptide, Xaa-Yaa-|-, preferentially when Yaa is Ala or Pro. Substrates are oligopeptides, preferentially tripeptides.", "evidence": [ { "id": "Q9UHL4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UHL4" } ] }, { "ec_number": "3.4.14.2", "activity": "", "evidence": [ { "id": "Q9UHL4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UHL4" } ] } ] }, { "uniprot_ac": "Q9Y251", "gene_name": "HPSE", "activity": [ { "ec_number": "3.2.1.166", "activity": "endohydrolysis of (1->4)-beta-D-glycosidic bonds of heparan sulfate chains in heparan sulfate proteoglycan.", "evidence": [ { "id": "Q9Y251", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y251" } ] }, { "ec_number": "3.2.1.166", "activity": "", "evidence": [ { "id": "Q9Y251", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y251" } ] } ] }, { "uniprot_ac": "Q9Y2J8", "gene_name": "PADI2", "activity": [ { "ec_number": "3.5.3.15", "activity": "H2O + L-arginyl-[protein] = L-citrullyl-[protein] + NH4(+).", "evidence": [ { "id": "Q9Y2J8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2J8" } ] }, { "ec_number": "3.5.3.15", "activity": "", "evidence": [ { "id": "Q9Y2J8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2J8" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 62, 72, 163, 166, 217 ], "sequon_annotation_sites": [ { "start_pos": 60, "end_pos": 62 } ] }, "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": 5 }, { "field": "total_sites", "count": 5 } ], "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": 49 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }