{ "uniprot_canonical_ac": "O00221-1", "uniprot_ac": "O00221", "uniprot_id": "IKBE_HUMAN", "mass": { "chemical_mass": 52864.0, "monoisotopic_mass": 52864.0 }, "refseq": { "ac": "NP_004547", "name": "NF-kappa-B inhibitor epsilon", "summary": "The protein encoded by this gene binds to components of NF-kappa-B, trapping the complex in the cytoplasm and preventing it from activating genes in the nucleus. Phosphorylation of the encoded protein targets it for destruction by the ubiquitin pathway, which activates NF-kappa-B by making it available to translocate to the nucleus. [provided by RefSeq, Sep 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004547" }, "gene_names": [ { "name": "NFKBIE", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00221", "id": "O00221" }, { "name": "IKBE", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004547", "id": "NP_004547" }, { "name": "IKBE", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00221", "id": "O00221" }, { "name": "NFKBIE", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004547", "id": "NP_004547" } ], "protein_names": [ { "name": "NF-kappa-B inhibitor epsilon", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00221" }, { "name": "I-kappa-B-epsilon", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00221" }, { "name": "IkB-E", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00221" }, { "name": "IkB-epsilon", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00221" }, { "name": "IkappaBepsilon", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00221" }, { "name": "NF-kappa-B inhibitor epsilon", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004547", "id": "NP_004547" }, { "name": "NF-kappa-BIE", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00221" }, { "name": "ikB-E; ikB-epsilon; NF-kappa-BIE; ikappaBepsilon; I-kappa-B-epsilon; nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004547", "id": "NP_004547" } ], "function": [ { "annotation": "A NFKBIE polymorphism was associated with increased risk of pneumococcal meningitis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004547", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004547" }, { "database": "PubMed", "id": "26870821", "url": "https://glygen.org/publication/PubMed/26870821" } ] }, { "annotation": "Identify NFKBIE aberrations as a common genetic event across B-cell malignancies and highlight NFKBIE deletions as a novel poor-prognostic marker in PMBL.", "evidence": [ { "database": "RefSeq", "id": "NP_004547", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004547" }, { "database": "PubMed", "id": "27670424", "url": "https://glygen.org/publication/PubMed/27670424" } ] }, { "annotation": "Inhibits NF-kappa-B by complexing with and trapping it in the cytoplasm. Inhibits DNA-binding of NF-kappa-B p50-p65 and p50-c-Rel complexes.", "evidence": [ { "database": "UniProtKB", "id": "O00221", "url": "https://www.uniprot.org/uniprot/O00221#function" }, { "database": "PubMed", "id": "9315679", "url": "https://glygen.org/publication/PubMed/9315679" } ] }, { "annotation": "Newly identified alterations included recurrent promoter mutations of NFKBIE, encoding NF-kappaB inhibitor varepsilon (IkappaBvarepsilon), in 14.5% of samples of desmoplastic melanoma", "evidence": [ { "database": "RefSeq", "id": "NP_004547", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004547" }, { "database": "PubMed", "id": "26343386", "url": "https://glygen.org/publication/PubMed/26343386" } ] }, { "annotation": "The protein encoded by this gene binds to components of NF-kappa-B, trapping the complex in the cytoplasm and preventing it from activating genes in the nucleus. Phosphorylation of the encoded protein targets it for destruction by the ubiquitin pathway, which activates NF-kappa-B by making it available to translocate to the nucleus. [provided by RefSeq, Sep 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_004547", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004547" } ] }, { "annotation": "We suggest that the impairment of NFKBIE gene function can reduce the uptake of methotrexate into cells, suggesting that the gene is an important factor for rheumatoid arthritis outcome", "evidence": [ { "database": "RefSeq", "id": "NP_004547", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004547" }, { "database": "PubMed", "id": "26587663", "url": "https://glygen.org/publication/PubMed/26587663" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O00221", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00221" } ], "glycoeffect": [], "start_pos": 175, "end_pos": 175, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "6", 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"resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ] }, { "disease_id": "DOID:1324", 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"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 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"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" } ] }, { "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": 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"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": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00221", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00221" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00221" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O00221", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00221" } ], "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", 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the ubiquitination of I kappa B alpha.", "journal": "Molecular cell", "date": "1999", "authors": "Tan P, Fuchs SY, Chen A, Wu K, Gomez C, Ronai Z, Pan ZQ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169091", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169091" } ], "reference": [ { "type": "PubMed", "id": "10230406", "url": "https://glygen.org/publication/PubMed/10230406" } ] }, { "title": "HOS, a human homolog of Slimb, forms an SCF complex with Skp1 and Cullin1 and targets the phosphorylation-dependent degradation of IkappaB and beta-catenin.", "journal": "Oncogene", "date": "1999", "authors": "Fuchs SY, Chen A, Xiong Y, Pan ZQ, Ronai Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169091", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169091" } ], "reference": [ { "type": "PubMed", "id": "10321728", "url": "https://glygen.org/publication/PubMed/10321728" } ] }, { "title": "beta-TrCP mediates the signal-induced ubiquitination of IkappaBbeta.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Wu C, Ghosh S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169091", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169091" } ], "reference": [ { "type": "PubMed", "id": "10514424", "url": "https://glygen.org/publication/PubMed/10514424" } ] }, { "title": "Peptides corresponding to the N and C termini of IkappaB-alpha, -beta, and -epsilon as probes of the two catalytic subunits of IkappaB kinase, IKK-1 and IKK-2.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Burke JR, Wood MK, Ryseck RP, Walther S, Meyers CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169091", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169091" } ], "reference": [ { "type": "PubMed", "id": "10593898", "url": "https://glygen.org/publication/PubMed/10593898" } ] }, { "title": "TAK1 is a ubiquitin-dependent kinase of MKK and IKK.", "journal": "Nature", "date": "2001", "authors": "Wang C, Deng L, Hong M, Akkaraju GR, Inoue J, Chen ZJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169091", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169091" } ], "reference": [ { "type": "PubMed", "id": "11460167", "url": "https://glygen.org/publication/PubMed/11460167" } ] }, { "title": "Protein kinase C beta controls nuclear factor kappaB activation in B cells through selective regulation of the IkappaB kinase alpha.", "journal": "The Journal of experimental medicine", "date": "2002", "authors": "Saijo K, Mecklenbrauker I, Santana A, Leitger M, Schmedt C, Tarakhovsky A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169091", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169091" } ], "reference": [ { "type": "PubMed", "id": "12070292", "url": "https://glygen.org/publication/PubMed/12070292" } ] }, { "title": "PKC-beta controls I kappa B kinase lipid raft recruitment and activation in response to BCR signaling.", 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