{ "uniprot_canonical_ac": "P08700-1", "uniprot_ac": "P08700", "uniprot_id": "IL3_HUMAN", "mass": { "chemical_mass": 17233.0, "monoisotopic_mass": 17233.0 }, "refseq": { "ac": "NP_000579", "name": "interleukin-3 precursor", "summary": "The protein encoded by this gene is a potent growth promoting cytokine. This cytokine is capable of supporting the proliferation of a broad range of hematopoietic cell types. It is involved in a variety of cell activities such as cell growth, differentiation and apoptosis. This cytokine has been shown to also possess neurotrophic activity, and it may be associated with neurologic disorders. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000579" }, "gene_names": [ { "name": "IL3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08700", "id": "P08700" }, { "name": "IL-3; MCGF; MULTI-CSF", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000579", "id": "NP_000579" }, { "name": "IL3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000579", "id": "NP_000579" } ], "protein_names": [ { "name": "Interleukin-3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08700" }, { "name": "Hematopoietic growth factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08700" }, { "name": "IL-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08700" }, { "name": "MCGF", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08700" }, { "name": "Mast cell growth factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08700" }, { "name": "Multipotential colony-stimulating factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08700" }, { "name": "P-cell-stimulating factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08700" }, { "name": "hematopoietic growth factor; P-cell stimulating factor; mast-cell growth factor; multilineage-colony-stimulating factor; multipotential colony-stimulating factor; colony-stimulating factor, multiple", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000579", "id": "NP_000579" }, { "name": "interleukin-3 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000579", "id": "NP_000579" } ], "function": [ { "annotation": "An Immunoregulatory Role of Interleukin-3 in Allergic Asthma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000579", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000579" }, { "database": "PubMed", "id": "35281014", "url": "https://glygen.org/publication/PubMed/35281014" } ] }, { "annotation": "Conformational and binding mode assessment of the human IL-3 recognition by its alpha receptor.", "evidence": [ { "database": "RefSeq", "id": "NP_000579", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000579" }, { "database": "PubMed", "id": "36729088", "url": "https://glygen.org/publication/PubMed/36729088" } ] }, { "annotation": "Cytokine secreted predominantly by activated T-lymphocytes as well as mast cells and osteoblastic cells that controls the production and differentiation of hematopoietic progenitor cells into lineage-restricted cells (PubMed:2556442). Stimulates also mature basophils, eosinophils, and monocytes to become functionally activated (PubMed:10779277, PubMed:32889153). In addition, plays an important role in neural cell proliferation and survival (PubMed:23226269). Participates as well in bone homeostasis and inhibits osteoclast differentiation by preventing NF-kappa-B nuclear translocation and activation (PubMed:12816992). Mechanistically, exerts its biological effects through a receptor composed of IL3RA subunit and a signal transducing subunit IL3RB (PubMed:29374162). Receptor stimulation results in the rapid activation of JAK2 kinase activity leading to STAT5-mediated transcriptional program (By similarity). Alternatively, contributes to cell survival under oxidative stress in non-hematopoietic systems by activating pathways mediated by PI3K/AKT and ERK (PubMed:27862234).", "evidence": [ { "database": "UniProtKB", "id": "P08700", "url": "https://www.uniprot.org/uniprot/P08700#function" }, { "database": "PubMed", "id": "29374162", "url": "https://glygen.org/publication/PubMed/29374162" }, { "database": "UniProtKB", "id": "P01586", "url": "https://www.uniprot.org/uniprot/P01586#function" }, { "database": "PubMed", "id": "32889153", "url": "https://glygen.org/publication/PubMed/32889153" }, { "database": "PubMed", "id": "10779277", "url": "https://glygen.org/publication/PubMed/10779277" }, { "database": "PubMed", "id": "2556442", "url": "https://glygen.org/publication/PubMed/2556442" }, { "database": "PubMed", "id": "23226269", "url": "https://glygen.org/publication/PubMed/23226269" }, { "database": "PubMed", "id": "27862234", "url": "https://glygen.org/publication/PubMed/27862234" }, { "database": "PubMed", "id": "12816992", "url": "https://glygen.org/publication/PubMed/12816992" } ] }, { "annotation": "Interleukin-3 coordinates glial-peripheral immune crosstalk to incite multiple sclerosis.", "evidence": [ { "database": "RefSeq", "id": "NP_000579", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000579" }, { "database": "PubMed", "id": "37160117", "url": "https://glygen.org/publication/PubMed/37160117" } ] }, { "annotation": "Interleukin-3 protects against viral pneumonia in sepsis by enhancing plasmacytoid dendritic cell recruitment into the lungs and T cell priming. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000579", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000579" }, { "database": "PubMed", "id": "36911737", "url": "https://glygen.org/publication/PubMed/36911737" } ] }, { "annotation": "Quantitative estimation of TNF-alpha and IL-3 by using ELISA from human lung tissue in fatal asphyxial deaths.", "evidence": [ { "database": "RefSeq", "id": "NP_000579", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000579" }, { "database": "PubMed", "id": "37453342", "url": "https://glygen.org/publication/PubMed/37453342" } ] }, { "annotation": "The protein encoded by this gene is a potent growth promoting cytokine. This cytokine is capable of supporting the proliferation of a broad range of hematopoietic cell types. It is involved in a variety of cell activities such as cell growth, differentiation and apoptosis. This cytokine has been shown to also possess neurotrophic activity, and it may be associated with neurologic disorders. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000579", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000579" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs761361539", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761361539" }, { "id": "rs761361539", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761361539" }, { "id": "rs761361539", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761361539#frequency_tab" }, { "id": "rs761361539", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761361539" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 129, "end_pos": 129, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KLT->NLT).", "chr_id": "5", "chr_pos": "132062719", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K129", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P08700", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08700" } ], "glycoeffect": [], "start_pos": 27, "end_pos": 27, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "132060785", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P27", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "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: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 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"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", 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"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 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"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, 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