{ "uniprot_canonical_ac": "O00505-1", "uniprot_ac": "O00505", "uniprot_id": "IMA4_HUMAN", "mass": { "chemical_mass": 57811.0, "monoisotopic_mass": 57811.0 }, "refseq": { "ac": "NP_002258", "name": "importin subunit alpha-4", "summary": "The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. [provided by RefSeq, Jan 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002258" }, "gene_names": [ { "name": "KPNA3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00505", "id": "O00505" }, { "name": "KPNA3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002258", "id": "NP_002258" }, { "name": "QIP2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00505", "id": "O00505" }, { "name": "hSRP1; IPOA4; SPG88; SRP1; SRP1gamma; SRP4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002258", "id": "NP_002258" } ], "protein_names": [ { "name": "Importin subunit alpha-4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00505" }, { "name": "Importin alpha Q2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00505" }, { "name": "Karyopherin subunit alpha-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00505" }, { "name": "Qip2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00505" }, { "name": "SRP1-gamma", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00505" }, { "name": "importin alpha 4; importin subunit alpha-3; importin alpha-3; qip2; SRP1-gamma; importin alpha Q2; karyopherin alpha 3 (importin alpha 4)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002258", "id": "NP_002258" }, { "name": "importin subunit alpha-4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002258", "id": "NP_002258" } ], "function": [ { "annotation": "Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia.", "evidence": [ { "database": "RefSeq", "id": "NP_002258", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002258" }, { "database": "PubMed", "id": "34564892", "url": "https://glygen.org/publication/PubMed/34564892" } ] }, { "annotation": "Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS. Recognizes NLSs of influenza A virus nucleoprotein probably through ARM repeats 7-9.", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505#function" } ] }, { "annotation": "KPNA3 promotes epithelial-mesenchymal transition by regulating TGF-beta and AKT signaling pathways in MDA-MB-231, a triple-negative breast cancer cell line.", "evidence": [ { "database": "RefSeq", "id": "NP_002258", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002258" }, { "database": "PubMed", "id": "36593106", "url": "https://glygen.org/publication/PubMed/36593106" } ] }, { "annotation": "SIRT1 promotes the progression and chemoresistance of colorectal cancer through the p53/miR-101/KPNA3 axis.", "evidence": [ { "database": "RefSeq", "id": "NP_002258", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002258" }, { "database": "PubMed", "id": "37575080", "url": "https://glygen.org/publication/PubMed/37575080" } ] }, { "annotation": "The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. [provided by RefSeq, Jan 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_002258", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002258" } ] } ], "disease": [ { "disease_id": "DOID:0070457", "recommended_name": { "id": "DOID:0070457", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070457", "name": "hereditary spastic paraplegia 88", "description": "A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that slowly progresses with variable severity that has_material_basis_in heterozygous mutation in the KPNA3 gene on chromosome 13q14.2." }, "synonyms": [ { "id": "DOID:0070457", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070457", "name": "SPG88", "description": "" }, { "id": "DOID:0070457", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070457", "name": "autosomal dominant spastic paraplegia 88", "description": "" }, { "id": "MONDO:0859309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859309", "name": "spastic paraplegia 88, autosomal dominant", "description": "" }, { "id": "MIM:620106", "resource": "MIM", "url": "https://www.omim.org/entry/620106", "name": "Spastic paraplegia 88, autosomal dominant", "description": "Spastic paraplegia 88, autosomal dominant" } ], "evidence": [ { "id": "620106", "database": "MIM", "url": "https://www.omim.org/entry/620106" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "83.31", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000102753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102753" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "91.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000102753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102753" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "84.84", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000102753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102753" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "87.98", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000102753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102753" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "87.95", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000102753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102753" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "88.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000102753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102753" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "79.56", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000102753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102753" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "88.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000102753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102753" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "84.29", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000102753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102753" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "88.24", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000102753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102753" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "86.75", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000102753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102753" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "80.9", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000102753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102753" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "83.91", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000102753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102753" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00505", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00505" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00505", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00505" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O00505", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00505" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O00505", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00505" } ], "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": "O00505", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00505" } ], "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": "O00505", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00505" } ], "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": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00505", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00505" } ], "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": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O00505", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00505" } ], "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": "O00505", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00505" } ], "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": "No", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O00505", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00505" } ], "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": "O00505", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00505" } ], "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": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O00505", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00505" } ], "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": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" } ], "common_name": "Human" } ], "gene": [ { "name": "KPNA3", "url": "https://www.uniprot.org/uniprot/O00505", "locus": { "chromosome": "13", "start_pos": 49699320, "end_pos": 49792682, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000102753", "url": "https://www.ensembl.org/id/ENSG00000102753" } ] } } ], "crossref": [ { "id": "ENSG00000102753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102753", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "CHEMBL4523119", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL4523119", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "KPNA3", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=KPNA3", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "3839", "url": "https://www.ncbi.nlm.nih.gov/gene/3839", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "6396", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6396", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O00505", "url": "https://www.ebi.ac.uk/intact/interactors/id:O00505*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000225", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000225", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002652", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002652", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011989", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011989", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016024", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016024", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR024931", "url": "https://www.ebi.ac.uk/interpro/entry/IPR024931", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032413", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032413", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036975", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036975", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:3839", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3839", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "601892", "url": "http://www.omim.org/entry/601892", "database": "MIM", "categories": [ "Other" ] }, { "id": "620106", "url": "http://www.omim.org/entry/620106", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O00505", "url": "https://www.nextprot.org/entry/NX_O00505", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O00505", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00505", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "GGNEHIQ", "url": "https://omabrowser.org/oma/group/GGNEHIQ/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "916229at2759", "url": "http://www.orthodb.org/?query=916229at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR23316", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23316", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR23316:SF6", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23316:SF6", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00514", "url": "http://pfam.xfam.org/family/PF00514", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01749", "url": "http://pfam.xfam.org/family/PF01749", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16186", "url": "http://pfam.xfam.org/family/PF16186", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O00505", "url": "https://pharos.nih.gov/targets/O00505", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O00505", "url": "http://purl.obolibrary.org/obo/PR_O00505", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-168276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-168276", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_002258", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002258", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "H0Y4S9", "url": "https://www.uniprot.org/uniprot/H0Y4S9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y4S9-1", "url": "https://www.uniprot.org/uniprot/H0Y4S9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00505-1", "url": "https://www.uniprot.org/uniprot/O00505-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAENPSLENHRIKSFKNKGRDVETMRRHRNEVTVELRKNKRDEHLLKKRNVPQEESLEDSDVDADFKAQNVTLEAILQNATSDNPVVQLSAVQAARKLLSSDRNPPIDDLIKSGILPILVKCLERDDNPSLQFEAAWALTNIASGTSAQTQAVVQSNAVPLFLRLLRSPHQNVCEQAVWALGNIIGDGPQCRDYVISLGVVKPLLSFISPSIPITFLRNVTWVIVNLCRNKDPPPPMETVQEILPALCVLIYHTDINILVDTVWALSYLTDGGNEQIQMVIDSGVVPFLVPLLSHQEVKVQTAALRAVGNIVTGTDEQTQVVLNCDVLSHFPNLLSHPKEKINKEAVWFLSNITAGNQQQVQAVIDAGLIPMIIHQLAKGDFGTQKEAAWAISNLTISGRKDQVEYLVQQNVIPPFCNLLSVKDSQVVQVVLDGLKNILIMAGDEASTIAEIIEECGGLEKIEVLQQHENEDIYKLAFEIIDQYFSGDDIDEDPCLIPEATQGGTYNFDPTANLQTKEFNF", "length": 521, "header": "sp|O00505-1|IMA4_HUMAN Isoform 1 of Importin subunit alpha-4 OS=Homo sapiens OX=9606 GN=KPNA3 PE=1 SV=2 CANONICAL=O00505-1" }, "isoforms": [ { "isoform_ac": "H0Y4S9-1", "url": "", "sequence": { "sequence": "XPFCNLLSVKDSQVVQVVLDGLKNILIMAGDEASTIAEIIEECGGLEKIEVLQQHENEDIYKLAFEIIDQYFSGDDIDEDPCLIPEATQGG", "length": 91, "header": "tr|H0Y4S9-1|H0Y4S9_HUMAN Computationally mapped isoform of Karyopherin subunit alpha 3 OS=Homo sapiens OX=9606 GN=KPNA3 PE=1 SV=1 CANONICAL=O00505-1" }, "locus": { "chromosome": "13", "start_pos": 49705752, "end_pos": 49701525, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000436760.1", "url": "https://www.ensembl.org/id/ENST00000436760.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000393869.1", "url": "https://www.ensembl.org/id/ENSP00000393869.1" } ] } }, { "isoform_ac": "O00505-1", "url": "", "sequence": { "sequence": "MAENPSLENHRIKSFKNKGRDVETMRRHRNEVTVELRKNKRDEHLLKKRNVPQEESLEDSDVDADFKAQNVTLEAILQNATSDNPVVQLSAVQAARKLLSSDRNPPIDDLIKSGILPILVKCLERDDNPSLQFEAAWALTNIASGTSAQTQAVVQSNAVPLFLRLLRSPHQNVCEQAVWALGNIIGDGPQCRDYVISLGVVKPLLSFISPSIPITFLRNVTWVIVNLCRNKDPPPPMETVQEILPALCVLIYHTDINILVDTVWALSYLTDGGNEQIQMVIDSGVVPFLVPLLSHQEVKVQTAALRAVGNIVTGTDEQTQVVLNCDVLSHFPNLLSHPKEKINKEAVWFLSNITAGNQQQVQAVIDAGLIPMIIHQLAKGDFGTQKEAAWAISNLTISGRKDQVEYLVQQNVIPPFCNLLSVKDSQVVQVVLDGLKNILIMAGDEASTIAEIIEECGGLEKIEVLQQHENEDIYKLAFEIIDQYFSGDDIDEDPCLIPEATQGGTYNFDPTANLQTKEFNF", "length": 521, "header": "sp|O00505-1|IMA4_HUMAN Isoform 1 of Importin subunit alpha-4 OS=Homo sapiens OX=9606 GN=KPNA3 PE=1 SV=2 CANONICAL=O00505-1" }, "locus": { "chromosome": "13", "start_pos": 49792506, "end_pos": 49701803, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000261667.8", "url": "https://www.ensembl.org/id/ENST00000261667.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000261667.3", "url": "https://www.ensembl.org/id/ENSP00000261667.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O00505", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00505" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "22121020", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22121020" } ] } ], "phosphorylation": [ { "start_pos": 14, "end_pos": 14, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00505" }, { "database": "PubMed", "id": "27920218", "url": "" } ], "site_lbl": "Ser14" }, { "start_pos": 24, "end_pos": 24, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00505" }, { "database": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" } ], "site_lbl": "Thr24" }, { "start_pos": 484, "end_pos": 484, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00505" } ], "site_lbl": "Tyr484" }, { "start_pos": 56, "end_pos": 56, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00505" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "phospho.ELM", "id": "O00505", "url": "http://phospho.elm.eu.org/byAccession/O00505.html" } ], "site_lbl": "Ser56" }, { "start_pos": 60, "end_pos": 60, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "18318008", "url": "https://glygen.org/publication/PubMed/18318008" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00505" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" }, { "database": "phospho.ELM", "id": "O00505", "url": "http://phospho.elm.eu.org/byAccession/O00505.html" } ], "site_lbl": "Ser60" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Influenza A virus NS1 protein targets poly(A)-binding protein II of the cellular 3'-end processing machinery.", "journal": "The EMBO journal", "date": "1999", "authors": "Chen Z, Li Y, Krug RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-168276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-168276" } ], "reference": [ { "type": "PubMed", "id": "10205180", "url": "https://glygen.org/publication/PubMed/10205180" } ] }, { "title": "Influenza virus NS1 protein counteracts PKR-mediated inhibition of replication.", "journal": "Journal of virology", "date": "2000", "authors": "Bergmann M, Garcia-Sastre A, Carnero E, Pehamberger H, Wolff K, Palese P, Muster T", "evidence": [ { "database": "Reactome", "id": "R-HSA-168276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-168276" } ], "reference": [ { "type": "PubMed", "id": "10846107", "url": "https://glygen.org/publication/PubMed/10846107" } ] }, { "title": "A PPxY motif within the VP40 protein of Ebola virus interacts physically and functionally with a ubiquitin ligase: implications for filovirus budding.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Harty RN, Brown ME, Wang G, Huibregtse J, Hayes FP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "11095724", "url": "https://glygen.org/publication/PubMed/11095724" } ] }, { "title": "Ubiquitination of HIV-1 and MuLV Gag.", "journal": "Virology", "date": "2000", "authors": "Ott DE, Coren LV, Chertova EN, Gagliardi TD, Schubert U", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "11112487", "url": "https://glygen.org/publication/PubMed/11112487" } ] }, { "title": "Influenza B virus NS1 protein inhibits conjugation of the interferon (IFN)-induced ubiquitin-like ISG15 protein.", "journal": "The EMBO journal", "date": "2001", "authors": "Yuan W, Krug RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "11157743", "url": "https://glygen.org/publication/PubMed/11157743" } ] }, { "title": "UBP43 (USP18) specifically removes ISG15 from conjugated proteins.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Malakhov MP, Malakhova OA, Kim KI, Ritchie KJ, Zhang DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "11788588", "url": "https://glygen.org/publication/PubMed/11788588" } ] }, { "title": "Overlapping motifs (PTAP and PPEY) within the Ebola virus VP40 protein function independently as late budding domains: involvement of host proteins TSG101 and VPS-4.", "journal": "Journal of virology", "date": "2003", "authors": "Licata JM, Simpson-Holley M, Wright NT, Han Z, Paragas J, Harty RN", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "12525615", "url": "https://glygen.org/publication/PubMed/12525615" } ] }, { "title": "High-throughput immunoblotting. Ubiquitiin-like protein ISG15 modifies key regulators of signal transduction.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Malakhov MP, Kim KI, Malakhova OA, Jacobs BS, Borden EC, Zhang DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "12582176", "url": "https://glygen.org/publication/PubMed/12582176" } ] }, { "title": "Importin alpha nuclear localization signal binding sites for STAT1, STAT2, and influenza A virus nucleoprotein.", "journal": "J. Biol. Chem.", "date": "2003", "authors": "Melen Krister, Fagerlund Riku, Franke Jacqueline, Kohler Matthias, Kinnunen Leena, Julkunen Ilkka", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" } ], "reference": [ { "type": "PubMed", "id": "12740372", "url": "https://glygen.org/publication/PubMed/12740372" } ] }, { "title": "The UbcH8 ubiquitin E2 enzyme is also the E2 enzyme for ISG15, an IFN-alpha/beta-induced ubiquitin-like protein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Zhao C, Beaudenon SL, Kelley ML, Waddell MB, Yuan W, Schulman BA, Huibregtse JM, Krug RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "15131269", "url": "https://glygen.org/publication/PubMed/15131269" } ] }, { "title": "Interferon-inducible ubiquitin E2, Ubc8, is a conjugating enzyme for protein ISGylation.", "journal": "Molecular and cellular biology", "date": "2004", "authors": "Kim KI, Giannakopoulos NV, Virgin HW, Zhang DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "15485925", "url": "https://glygen.org/publication/PubMed/15485925" } ] }, { "title": "An unconventional NLS is critical for the nuclear import of the influenza A virus nucleoprotein and ribonucleoprotein.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2005", "authors": "Cros JF, Garcia-Sastre A, Palese P", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "15702989", "url": "https://glygen.org/publication/PubMed/15702989" } ] }, { "title": "Human ISG15 conjugation targets both IFN-induced and constitutively expressed proteins functioning in diverse cellular pathways.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Zhao C, Denison C, Huibregtse JM, Gygi S, Krug RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "16009940", "url": "https://glygen.org/publication/PubMed/16009940" } ] }, { "title": "ISG15 modification of Ubc13 suppresses its ubiquitin-conjugating activity.", "journal": "Biochemical and biophysical research communications", "date": "2005", "authors": "Takeuchi T, Yokosawa H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "16112642", "url": "https://glygen.org/publication/PubMed/16112642" } ] }, { "title": "ISG15 modification of ubiquitin E2 Ubc13 disrupts its ability to form thioester bond with ubiquitin.", "journal": "Biochemical and biophysical research communications", "date": "2005", "authors": "Zou W, Papov V, Malakhova O, Kim KI, Dao C, Li J, Zhang DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "16122702", "url": "https://glygen.org/publication/PubMed/16122702" } ] }, { "title": "Proteomic identification of proteins conjugated to ISG15 in mouse and human cells.", "journal": "Biochemical and biophysical research communications", "date": "2005", "authors": "Giannakopoulos NV, Luo JK, Papov V, Zou W, Lenschow DJ, Jacobs BS, Borden EC, Li J, Virgin HW, Zhang DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "16139798", "url": "https://glygen.org/publication/PubMed/16139798" } ] }, { "title": "The interferon-inducible ubiquitin-protein isopeptide ligase (E3) EFP also functions as an ISG15 E3 ligase.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Zou W, Zhang DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "16352599", "url": "https://glygen.org/publication/PubMed/16352599" } ] }, { "title": "Herc5, an interferon-induced HECT E3 enzyme, is required for conjugation of ISG15 in human cells.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Dastur A, Beaudenon S, Kelley M, Krug RM, Huibregtse JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "16407192", "url": "https://glygen.org/publication/PubMed/16407192" } ] }, { "title": "Link between the ubiquitin conjugation system and the ISG15 conjugation system: ISG15 conjugation to the UbcH6 ubiquitin E2 enzyme.", "journal": "Journal of biochemistry", "date": "2005", "authors": "Takeuchi T, Iwahara S, Saeki Y, Sasajima H, Yokosawa H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "16428300", "url": "https://glygen.org/publication/PubMed/16428300" } ] }, { "title": "Negative regulation of interferon-regulatory factor 3-dependent innate antiviral response by the prolyl isomerase Pin1.", "journal": "Nature immunology", "date": "2006", "authors": "Saitoh T, Tun-Kyi A, Ryo A, Yamamoto M, Finn G, Fujita T, Akira S, Yamamoto N, Lu KP, Yamaoka S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "16699525", "url": "https://glygen.org/publication/PubMed/16699525" } ] }, { "title": "Pin-ning down immune responses to RNA viruses.", "journal": "Nature immunology", "date": "2006", "authors": "Goutagny N, Severa M, Fitzgerald KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "16715065", "url": "https://glygen.org/publication/PubMed/16715065" } ] }, { "title": "Cumulative mutations of ubiquitin acceptor sites in human immunodeficiency virus type 1 gag cause a late budding defect.", "journal": "Journal of virology", "date": "2006", "authors": "Gottwein E, Jager S, Habermann A, Krausslich HG", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "16775314", "url": "https://glygen.org/publication/PubMed/16775314" } ] }, { "title": "HERC5 is an IFN-induced HECT-type E3 protein ligase that mediates type I IFN-induced ISGylation of protein targets.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Wong JJ, Pung YF, Sze NS, Chin KC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "16815975", "url": "https://glygen.org/publication/PubMed/16815975" } ] }, { "title": "Negative regulation of protein phosphatase 2Cbeta by ISG15 conjugation.", "journal": "FEBS letters", "date": "2006", "authors": "Takeuchi T, Kobayashi T, Tamura S, Yokosawa H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "16872604", "url": "https://glygen.org/publication/PubMed/16872604" } ] }, { "title": "ISG15 enhances the innate antiviral response by inhibition of IRF-3 degradation.", "journal": "Cellular and molecular biology (Noisy-le-Grand, France)", "date": "2006", "authors": "Lu G, Reinert JT, Pitha-Rowe I, Okumura A, Kellum M, Knobeloch KP, Hassel B, Pitha PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "16914094", "url": "https://glygen.org/publication/PubMed/16914094" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" }, { "database": "iPTMnet", "id": "O00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00505" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "ISG15 modification of the eIF4E cognate 4EHP enhances cap structure-binding activity of 4EHP.", "journal": "Genes & development", "date": "2007", "authors": "Okumura F, Zou W, Zhang DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "17289916", "url": "https://glygen.org/publication/PubMed/17289916" } ] }, { "title": "Phosphopeptide enrichment by aliphatic hydroxy acid-modified metal oxide chromatography for nano-LC-MS/MS in proteomics applications.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Sugiyama N, Masuda T, Shinoda K, Nakamura A, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "O00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00505" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] }, { "title": "Nuclear and nucleolar targeting of influenza A virus NS1 protein: striking differences between different virus subtypes.", "journal": "Journal of virology", "date": "2007", "authors": "Melen K, Kinnunen L, Fagerlund R, Ikonen N, Twu KY, Krug RM, Julkunen I", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "17376915", "url": "https://glygen.org/publication/PubMed/17376915" } ] }, { "title": "Hydrophilic interaction chromatography reduces the complexity of the phosphoproteome and improves global phosphopeptide isolation and detection.", "journal": "Molecular & cellular proteomics : MCP", "date": "2008", "authors": "McNulty DE, Annan RS", "evidence": [ { "database": "iPTMnet", "id": "O00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00505" } ], "reference": [ { "type": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" } ] }, { "title": "ISG15 inhibits Nedd4 ubiquitin E3 activity and enhances the innate antiviral response.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Malakhova OA, Zhang DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "18287095", "url": "https://glygen.org/publication/PubMed/18287095" } ] }, { "title": "ISG15 inhibits Ebola VP40 VLP budding in an L-domain-dependent manner by blocking Nedd4 ligase activity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Okumura A, Pitha PM, Harty RN", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "18305167", "url": "https://glygen.org/publication/PubMed/18305167" } ] }, { "title": "Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography.", "journal": "Proteomics", "date": "2008", "authors": "Han G, Ye M, Zhou H, Jiang X, Feng S, Jiang X, Tian R, Wan D, Zou H, Gu J", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" }, { "database": "iPTMnet", "id": "O00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00505" } ], "reference": [ { "type": "PubMed", "id": "18318008", "url": "https://glygen.org/publication/PubMed/18318008" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00505" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Phosphoproteome analysis of the human Chang liver cells using SCX and a complementary mass spectrometric strategy.", "journal": "Proteomics", "date": "2008", "authors": "Sui S, Wang J, Yang B, Song L, Zhang J, Chen M, Liu J, Lu Z, Cai Y, Chen S, Bi W, Zhu Y, He F, Qian X", "evidence": [ { "database": "iPTMnet", "id": "O00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00505" } ], "reference": [ { "type": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ] }, { "title": "The basis for selective E1-E2 interactions in the ISG15 conjugation system.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Durfee LA, Kelley ML, Huibregtse JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "18583345", "url": "https://glygen.org/publication/PubMed/18583345" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00505" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "ISG15 Arg151 and the ISG15-conjugating enzyme UbE1L are important for innate immune control of Sindbis virus.", "journal": "Journal of virology", "date": "2009", "authors": "Giannakopoulos NV, Arutyunova E, Lai C, Lenschow DJ, Haas AL, Virgin HW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "19073728", "url": "https://glygen.org/publication/PubMed/19073728" } ] }, { "title": "Inhibition of IRF3-dependent antiviral responses by cellular and viral proteins.", "journal": "Cell research", "date": "2009", "authors": "Tsuchida T, Kawai T, Akira S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "19125153", "url": "https://glygen.org/publication/PubMed/19125153" } ] }, { "title": "ISG15 modification of filamin B negatively regulates the type I interferon-induced JNK signalling pathway.", "journal": "EMBO reports", "date": "2009", "authors": "Jeon YJ, Choi JS, Lee JY, Yu KR, Kim SM, Ka SH, Oh KH, Kim KI, Zhang DE, Bang OS, Chung CH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "19270716", "url": "https://glygen.org/publication/PubMed/19270716" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "O00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00505" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Phosphoproteomic analysis of distinct tumor cell lines in response to nocodazole treatment.", "journal": "Proteomics", "date": "2009", "authors": "Nagano K, Shinkawa T, Mutoh H, Kondoh O, Morimoto S, Inomata N, Ashihara M, Ishii N, Aoki Y, Haramura M", "evidence": [ { "database": "iPTMnet", "id": "O00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00505" } ], "reference": [ { "type": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00505" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "O00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00505" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "O00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00505" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" }, { "database": "iPTMnet", "id": "O00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00505" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Exploring the human leukocyte phosphoproteome using a microfluidic reversed-phase-TiO2-reversed-phase high-performance liquid chromatography phosphochip coupled to a quadrupole time-of-flight mass spectrometer.", "journal": "Analytical chemistry", "date": "2010", "authors": "Raijmakers R, Kraiczek K, de Jong AP, Mohammed S, Heck AJ", "evidence": [ { "database": "iPTMnet", "id": "O00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00505" } ], "reference": [ { "type": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" }, { "database": "iPTMnet", "id": "O00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00505" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "ISG15 conjugation system targets the viral NS1 protein in influenza A virus-infected cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Zhao C, Hsiang TY, Kuo RL, Krug RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "20133869", "url": "https://glygen.org/publication/PubMed/20133869" } ] }, { "title": "Species-specific antagonism of host ISGylation by the influenza B virus NS1 protein.", "journal": "Journal of virology", "date": "2010", "authors": "Versteeg GA, Hale BG, van Boheemen S, Wolff T, Lenschow DJ, Garcia-Sastre A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "20219937", "url": "https://glygen.org/publication/PubMed/20219937" } ] }, { "title": "Positive regulation of interferon regulatory factor 3 activation by Herc5 via ISG15 modification.", "journal": "Molecular and cellular biology", "date": "2010", "authors": "Shi HX, Yang K, Liu X, Liu XY, Wei B, Shan YF, Zhu LH, Wang C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "20308324", "url": "https://glygen.org/publication/PubMed/20308324" } ] }, { "title": "Herc5 attenuates influenza A virus by catalyzing ISGylation of viral NS1 protein.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2010", "authors": "Tang Y, Zhong G, Zhu L, Liu X, Shan Y, Feng H, Bu Z, Chen H, Wang C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "20385878", "url": "https://glygen.org/publication/PubMed/20385878" } ] }, { "title": "Importin alpha3 interacts with HIV-1 integrase and contributes to HIV-1 nuclear import and replication.", "journal": "J. Virol.", "date": "2010", "authors": "Ao Zhujun, Danappa Jayappa Kallesh, Wang Binchen, Zheng Yingfeng, Kung Sam, Rassart Eric, Depping Reinhard, Kohler Matthias, Cohen Eric A, Yao Xiaojian", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" } ], "reference": [ { "type": "PubMed", "id": "20554775", "url": "https://glygen.org/publication/PubMed/20554775" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" }, { "database": "iPTMnet", "id": "O00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00505" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "GlcNAcylation of histone H2B facilitates its monoubiquitination.", "journal": "Nature", "date": "2011", "authors": "Fujiki R, Hashiba W, Sekine H, Yokoyama A, Chikanishi T, Ito S, Imai Y, Kim J, He HH, Igarashi K, Kanno J, Ohtake F, Kitagawa H, Roeder RG, Brown M, Kato S", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00505", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00505" } ], "reference": [ { "type": "PubMed", "id": "22121020", "url": "https://glygen.org/publication/PubMed/22121020" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" }, { "database": "iPTMnet", "id": "O00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00505" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00505", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00505" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "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": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" }, { "database": "iPTMnet", "id": "O00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00505" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "mRNA export through an additional cap-binding complex consisting of NCBP1 and NCBP3.", "journal": "Nat. Commun.", "date": "2015", "authors": "Gebhardt A, Habjan M, Benda C, Meiler A, Haas DA, Hein MY, Mann A, Mann M, Habermann B, Pichlmair A", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" } ], "reference": [ { "type": "PubMed", "id": "26382858", "url": "https://glygen.org/publication/PubMed/26382858" } ] }, { "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "date": "2018", "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00505", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00505" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00505", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00505" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "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": "O00505", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00505" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia.", "journal": "Annals of neurology", "date": "2021", "authors": "Schob C, Hempel M, Safka Brozkova D, Jiang H, Kim SY, Batzir NA, Orenstein N, Bierhals T, Johannsen J, Uhrova Meszarosova A, Chae JH, Seeman P, Woidy M, Fang F, Kubisch C, Kindler S, Denecke J", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" }, { "database": "RefSeq", "id": "NP_002258", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002258" } ], "reference": [ { "type": "PubMed", "id": "34564892", "url": "https://glygen.org/publication/PubMed/34564892" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00505", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00505" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Heterozygous De Novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia.", "journal": "Annals of neurology", "date": "2022-05", "authors": "Estiar Mehrdad A, Lail Noor, Dyment David A, Varghaei Parizad, Hartley Taila, Gillespie Meredith K, Yoon Grace, Boycott Kym M, Rouleau Guy A, Gan-Or Ziv", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" } ], "reference": [ { "type": "PubMed", "id": "34825409", "url": "https://glygen.org/publication/PubMed/34825409" } ] }, { "title": "A Recurrent KPNA3 Missense Variant Causing Infantile Pure Spastic Paraplegia.", "journal": "Annals of neurology", "date": "2022-02", "authors": "De Winter Jonathan, Van de Vondel Liedewei, Z\u00fcchner Stephan, Ortibus Els, Baets Jonathan", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" } ], "reference": [ { "type": "PubMed", "id": "34981581", "url": "https://glygen.org/publication/PubMed/34981581" } ] }, { "title": "\ufeff\ufeffKPNA3 promotes epithelial-mesenchymal transition by regulating TGF-\u03b2 and AKT signaling pathways in MDA-MB-231, a triple-negative breast cancer cell line.", "journal": "BMB reports", "date": "2023-01-03", "authors": "Choi Jaesung, Choi Jee-Hye, Lee Ho Woon, Seo Dongbeom, Lkhagvasuren Gavaachimed, Kim Jung-Woong, Seo Sang-Beom, Lee Kangseok, Lee Kwang-Ho", "evidence": [ { "database": "RefSeq", "id": "NP_002258", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002258" } ], "reference": [ { "type": "PubMed", "id": "36593106", "url": "https://glygen.org/publication/PubMed/36593106" } ] }, { "title": "SIRT1 promotes the progression and chemoresistance of colorectal cancer through the p53/miR-101/KPNA3 axis.", "journal": "Cancer biology & therapy", "date": "2023-12-31", "authors": "Wang Xiao-Wei, Jiang Ying-Hao, Ye Wei, Shao Chun-Fa, Xie Jian-Jin, Li Xia", "evidence": [ { "database": "RefSeq", "id": "NP_002258", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002258" } ], "reference": [ { "type": "PubMed", "id": "37575080", "url": "https://glygen.org/publication/PubMed/37575080" } ] }, { "title": "Nuclear import of influenza virus RNA can be mediated by viral nucleoprotein and transport factors required for protein import.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "O'Neill RE, Jaskunas R, Blobel G, Palese P, Moroianu J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "7559393", "url": "https://glygen.org/publication/PubMed/7559393" } ] }, { "title": "Influenza virus NS1 protein inhibits pre-mRNA splicing and blocks mRNA nucleocytoplasmic transport.", "journal": "The EMBO journal", "date": "1994", "authors": "Fortes P, Beloso A, Ortin J", "evidence": [ { "database": "Reactome", "id": "R-HSA-168276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-168276" } ], "reference": [ { "type": "PubMed", "id": "8313914", "url": "https://glygen.org/publication/PubMed/8313914" } ] }, { "title": "Isolation and mapping of karyopherin alpha 3 (KPNA3), a human gene that is highly homologous to genes encoding Xenopus importin, yeast SRP1 and human RCH1.", "journal": "Cytogenet. Cell Genet.", "date": "1997", "authors": "Takeda S, Fujiwara T, Shimizu F, Kawai A, Shinomiya K, Okuno S, Ozaki K, Katagiri T, Shimada Y, Nagata M, Watanabe T, Takaichi A, Kuga Y, Suzuki M, Hishigaki H, Takahashi E, Shin S, Nakamura Y, Hirai Y", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" } ], "reference": [ { "type": "PubMed", "id": "9154134", "url": "https://glygen.org/publication/PubMed/9154134" } ] }, { "title": "Cloning of two novel human importin-alpha subunits and analysis of the expression pattern of the importin-alpha protein family.", "journal": "FEBS Lett.", "date": "1997", "authors": "K\u00f6hler M, Ansieau S, Prehn S, Leutz A, Haller H, Hartmann E", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" } ], "reference": [ { "type": "PubMed", "id": "9395085", "url": "https://glygen.org/publication/PubMed/9395085" } ] }, { "title": "Cloning and characterization of hSRP1 gamma, a tissue-specific nuclear transport factor.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1998", "authors": "Nachury M V, Ryder U W, Lamond A I, Weis K", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" } ], "reference": [ { "type": "PubMed", "id": "9435235", "url": "https://glygen.org/publication/PubMed/9435235" } ] }, { "title": "Ubiquitin is covalently attached to the p6Gag proteins of human immunodeficiency virus type 1 and simian immunodeficiency virus and to the p12Gag protein of Moloney murine leukemia virus.", "journal": "Journal of virology", "date": "1998", "authors": "Ott DE, Coren LV, Copeland TD, Kane BP, Johnson DG, Sowder RC 2nd, Yoshinaka Y, Oroszlan S, Arthur LO, Henderson LE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "9525617", "url": "https://glygen.org/publication/PubMed/9525617" } ] }, { "title": "Influenza virus NS1 protein interacts with the cellular 30 kDa subunit of CPSF and inhibits 3'end formation of cellular pre-mRNAs.", "journal": "Molecular cell", "date": "1998", "authors": "Nemeroff ME, Barabino SM, Li Y, Keller W, Krug RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-168276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-168276" } ], "reference": [ { "type": "PubMed", "id": "9651582", "url": "https://glygen.org/publication/PubMed/9651582" } ] } ], "pathway": [ { "id": "hsa:3839", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3839", "resource": "KEGG Pathway" }, { "id": "R-HSA-1169408", "name": "ISG15 antiviral mechanism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408", "resource": "Reactome", "description": "ISG15 antiviral mechanism" }, { "id": "R-HSA-168276", "name": "NS1 Mediated Effects on Host Pathways", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-168276", "resource": "Reactome", "description": "NS1 Mediated Effects on Host Pathways" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I5ZWC6-1", "protein_name": "Importin subunit alpha", "gene_name": "Kpna3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAENPGLENHRIKSFKNKGRDLKTMRRHRNEVTVELRKNKRDEHLLKKRNVPQEESLEDSDVDADFKAQNVTLEAILQNATSDNPVVQLSAVQAARKLLSSDRNPPIDDLIKSGILPILVKCLERDDNPSLQFEAAWALTNIASGTSAQTQAVVQSNAVPLFLRLLHSPHQNVCEQAVWALGNIIGDGPQCRDYVISLGVVKPLLSFINPSIPITFLRNVTWVIVNLCRNKDPPPPMETVQEILPALCVLIYHTDINILVDTVWALSYLTDGGNEQIQMVIDSGVVPFLVPLLSHQEVKVQTAALRAVGNIVTGTDEQTQVVLNCDVLSHFPNLLSHPKEKINKEAVWFLSNITAGNQQQVQAVIDAGLIPMIIHQLAKGDFGTQKEAAWAISNLTISGRKDQVEYLVQQNVIPPFCNLLSVKDSQVVQVVLDGLKNILIMAGDEASTIAEIIEECGGLEKIEVLQQHENEDIYKLAFEIIDQYFSGDDIDEDPSLIPEATQGGTYNFDPTANLQTKEFNF", "length": 521 }, "evidence": [ { "id": "45918086", "url": "http://www.informatics.jax.org/homology/45918086", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "O35344-1", "protein_name": "Importin subunit alpha-4", "gene_name": "Kpna3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAENPGLENHRIKSFKNKGRDVETMRRHRNEVTVELRKNKRDEHLLKKRNVPQEESLEDSDVDADFKAQNVTLEAILQNATSDNPVVQLSAVQAARKLLSSDRNPPIDDLIKSGILPILVKCLERDDNPSLQFEAAWALTNIASGTSAQTQAVVQSNAVPLFLRLLHSPHQNVCEQAVWALGNIIGDGPQCRDYVISLGVVKPLLSFINPSIPITFLRNVTWVIVNLCRNKDPPPPMETVQEILPALCVLIYHTDINILVDTVWALSYLTDGGNEQIQMVIDSGVVPFLVPLLSHQEVKVQTAALRAVGNIVTGTDEQTQVVLNCDVLSHFPNLLSHPKEKINKEAVWFLSNITAGNQQQVQAVIDAGLIPMIIHQLAKGDFGTQKEAAWAISNLTISGRKDQVEYLVQQNVIPPFCNLLSVKDSQVVQVVLDGLKNILIMAGDEASTIAEIIEECGGLEKIEVLQQHENEDIYKLAFEIIDQYFSGDDIDEDPSLIPEATQGGTYNFDPTANLQTKEFNF", "length": 521 }, "evidence": [ { "id": "45918086", "url": "http://www.informatics.jax.org/homology/45918086", "database": "MGI" }, { "id": "O00505", "url": "https://omabrowser.org/oma/group/O00505/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "viral penetration into host nucleus", "id": "GO:0075732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0075732", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" } ], "pmid": "" }, { "name": "viral entry into host cell", "id": "GO:0046718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046718", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" } ], "pmid": "" }, { "name": "NLS-bearing protein import into nucleus", "id": "GO:0006607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006607", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" } ], "pmid": "" }, { "name": "nuclear pore", "id": "GO:0005643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005643", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" } ], "pmid": "" }, { "name": "host cell", "id": "GO:0043657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043657", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" } ], "pmid": "" }, { "name": "NLS-dependent protein nuclear import complex", "id": "GO:0042564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042564", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "nuclear localization sequence binding", "id": "GO:0008139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008139", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" } ], "pmid": "" }, { "name": "nuclear import signal receptor activity", "id": "GO:0061608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061608", "evidence": [ { "database": "UniProtKB", "id": "O00505", "url": "https://www.uniprot.org/uniprot/O00505" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 219, "end_pos": 221, "annotation": "n_glycosylation_sequon" }, { "start_pos": 352, "end_pos": 354, "annotation": "n_glycosylation_sequon" }, { "start_pos": 394, "end_pos": 396, "annotation": "n_glycosylation_sequon" }, { "start_pos": 70, "end_pos": 72, "annotation": "n_glycosylation_sequon" }, { "start_pos": 79, "end_pos": 81, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 14, 24, 56, 60, 484 ], "sequon_annotation_sites": [ { "start_pos": 219, "end_pos": 221 }, { "start_pos": 352, "end_pos": 354 }, { "start_pos": 394, "end_pos": 396 }, { "start_pos": 70, "end_pos": 72 }, { "start_pos": 79, "end_pos": 81 } ] }, "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": 75 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }