{ "uniprot_canonical_ac": "O43524-1", "uniprot_ac": "O43524", "uniprot_id": "FOXO3_HUMAN", "mass": { "chemical_mass": 71277.0, "monoisotopic_mass": 71277.0 }, "refseq": { "ac": "NP_001446", "name": "forkhead box protein O3 isoform 1", "summary": "This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. This gene likely functions as a trigger for apoptosis through expression of genes necessary for cell death. Translocation of this gene with the MLL gene is associated with secondary acute leukemia. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001446" }, "gene_names": [ { "name": "FOXO3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43524", "id": "O43524" }, { "name": "AF6q21; FKHRL1; FKHRL1P2; FOXO2; FOXO3A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001446", "id": "NP_001446" }, { "name": "FKHRL1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43524", "id": "O43524" }, { "name": "FOXO3A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43524", "id": "O43524" }, { "name": "FOXO3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001446", "id": "NP_001446" } ], "protein_names": [ { "name": "Forkhead box protein O3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43524" }, { "name": "AF6q21 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43524" }, { "name": "Forkhead in rhabdomyosarcoma-like 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43524" }, { "name": "forkhead box protein O3 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001446", "id": "NP_001446" }, { "name": "forkhead, Drosophila, homolog of, in rhabdomyosarcoma-like 1; forkhead homolog (rhabdomyosarcoma) like 1; forkhead box O3A; forkhead box protein O3; forkhead in rhabdomyosarcoma-like 1; FOXO3A-", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001446", "id": "NP_001446" } ], "function": [ { "annotation": "FOXO3 and PTEN expression in the ovary of girls with extra-gonadal cancer with or without chemotherapy treatment prior to cryopreservation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001446" }, { "database": "PubMed", "id": "37737182", "url": "https://glygen.org/publication/PubMed/37737182" } ] }, { "annotation": "FOXO3a-regulated arginine metabolic plasticity adaptively promotes esophageal cancer proliferation and metastasis.", "evidence": [ { "database": "RefSeq", "id": "NP_001446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001446" }, { "database": "PubMed", "id": "38049565", "url": "https://glygen.org/publication/PubMed/38049565" } ] }, { "annotation": "FoxO3a Drives the Metabolic Reprogramming in Tamoxifen-Resistant Breast Cancer Cells Restoring Tamoxifen Sensitivity. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001446" }, { "database": "PubMed", "id": "38132097", "url": "https://glygen.org/publication/PubMed/38132097" } ] }, { "annotation": "Pro-carcinogenic actions of miR-155/FOXO3a in colorectal cancer development. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001446" }, { "database": "PubMed", "id": "37953568", "url": "https://glygen.org/publication/PubMed/37953568" } ] }, { "annotation": "This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. This gene likely functions as a trigger for apoptosis through expression of genes necessary for cell death. Translocation of this gene with the MLL gene is associated with secondary acute leukemia. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001446" } ] }, { "annotation": "Transcriptional activator that recognizes and binds to the DNA sequence 5'-[AG]TAAA[TC]A-3' and regulates different processes, such as apoptosis and autophagy (PubMed:10102273, PubMed:16751106, PubMed:21329882, PubMed:30513302). Acts as a positive regulator of autophagy in skeletal muscle: in starved cells, enters the nucleus following dephosphorylation and binds the promoters of autophagy genes, such as GABARAP1L, MAP1LC3B and ATG12, thereby activating their expression, resulting in proteolysis of skeletal muscle proteins (By similarity). Triggers apoptosis in the absence of survival factors, including neuronal cell death upon oxidative stress (PubMed:10102273, PubMed:16751106). Participates in post-transcriptional regulation of MYC: following phosphorylation by MAPKAPK5, promotes induction of miR-34b and miR-34c expression, 2 post-transcriptional regulators of MYC that bind to the 3'UTR of MYC transcript and prevent its translation (PubMed:21329882). In response to metabolic stress, translocates into the mitochondria where it promotes mtDNA transcription (PubMed:23283301). In response to metabolic stress, translocates into the mitochondria where it promotes mtDNA transcription. Also acts as a key regulator of chondrogenic commitment of skeletal progenitor cells in response to lipid availability: when lipids levels are low, translocates to the nucleus and promotes expression of SOX9, which induces chondrogenic commitment and suppresses fatty acid oxidation (By similarity). Also acts as a key regulator of regulatory T-cells (Treg) differentiation by activating expression of FOXP3 (PubMed:30513302).", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524#function" }, { "database": "UniProtKB", "id": "Q9WVH4", "url": "https://www.uniprot.org/uniprot/Q9WVH4#function" }, { "database": "PubMed", "id": "21329882", "url": "https://glygen.org/publication/PubMed/21329882" }, { "database": "PubMed", "id": "16751106", "url": "https://glygen.org/publication/PubMed/16751106" }, { "database": "PubMed", "id": "30513302", "url": "https://glygen.org/publication/PubMed/30513302" }, { "database": "PubMed", "id": "23283301", "url": "https://glygen.org/publication/PubMed/23283301" }, { "database": "PubMed", "id": "10102273", "url": "https://glygen.org/publication/PubMed/10102273" } ] }, { "annotation": "ZIP4 upregulation aggravates nucleus pulposus cell degradation by promoting inflammation and oxidative stress by mediating the HDAC4-FoxO3a axis.", "evidence": [ { "database": "RefSeq", "id": "NP_001446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001446" }, { "database": "PubMed", "id": "38217540", "url": "https://glygen.org/publication/PubMed/38217540" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O43524", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43524" }, { "id": "rs199833934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199833934" }, { "id": "rs199833934", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199833934" }, { "id": "rs199833934", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199833934" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 482, "end_pos": 482, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 2 out of 6 filters: num. of cancers (3); o-glyco-site-loss (S->N).", "chr_id": "6", "chr_pos": "108664278", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S482", "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: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": "" } ] }, { "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1248946365", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1248946365" }, { "id": "rs1248946365", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1248946365" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 284, "end_pos": 284, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->G).", "chr_id": "6", "chr_pos": "108663683", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S284", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772568117", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772568117" }, { "id": "rs772568117", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772568117" }, { "id": "rs772568117", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772568117" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 296, "end_pos": 296, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "6", "chr_pos": "108663719", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T296", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775021576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775021576" }, { "id": "rs775021576", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775021576" }, { "id": "rs775021576", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775021576#frequency_tab" }, { "id": "rs775021576", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775021576" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 296, "end_pos": 296, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->K).", "chr_id": "6", "chr_pos": "108663720", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T296", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775021576", "database": 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"" }, { "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": 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"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, 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"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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43524", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43524" } ], "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 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"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", 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"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": 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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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43524", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43524" } ], "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://www.reactome.org/PathwayBrowser/#R-HSA-9614657", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9615017", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9615017", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9617629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9617629", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9617828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9617828", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9634638", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634638", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001446", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43524-1", "url": "https://www.uniprot.org/uniprot/O43524-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43524-2", "url": "https://www.uniprot.org/uniprot/O43524-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAEAPASPAPLSPLEVELDPEFEPQSRPRSCTWPLQRPELQASPAKPSGETAADSMIPEEEDDEDDEDGGGRAGSAMAIGGGGGSGTLGSGLLLEDSARVLAPGGQDPGSGPATAAGGLSGGTQALLQPQQPLPPPQPGAAGGSGQPRKCSSRRNAWGNLSYADLITRAIESSPDKRLTLSQIYEWMVRCVPYFKDKGDSNSSAGWKNSIRHNLSLHSRFMRVQNEGTGKSSWWIINPDGGKSGKAPRRRAVSMDNSNKYTKSRGRAAKKKAALQTAPESADDSPSQLSKWPGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMASTELDEVQDDDAPLSPMLYSSSASLSPSVSKPCTVELPRLTDMAGTMNLNDGLTENLMDDLLDNITLPPSQPSPTGGLMQRSSSFPYTTKGSGLGSPTSSFNSTVFGPSSLNSLRQSPMQTIQENKPATFSSMSHYGNQTLQDLLTSDSLSHSDVMMTQSDPLMSQASTAVSAQNSRRNVMLRNDPMMSFAAQPNQGSLVNQNLLHHQHQTQGALGGSRALSNSVSNMGLSESSSLGSAKHQQQSPVSQSMQTLSDSLSGSSLYSTSANLPVMGHEKFPSDLDLDMFNGSLECDMESIIRSELMDADGLDFNFDSLISTQNVVGLNVGNFTGAKQASSQSWVPG", "length": 673, "header": "sp|O43524-1|FOXO3_HUMAN Isoform 1 of Forkhead box protein O3 OS=Homo sapiens OX=9606 GN=FOXO3 PE=1 SV=1 CANONICAL=O43524-1" }, "isoforms": [ { "isoform_ac": "O43524-1", "url": "", "sequence": { "sequence": "MAEAPASPAPLSPLEVELDPEFEPQSRPRSCTWPLQRPELQASPAKPSGETAADSMIPEEEDDEDDEDGGGRAGSAMAIGGGGGSGTLGSGLLLEDSARVLAPGGQDPGSGPATAAGGLSGGTQALLQPQQPLPPPQPGAAGGSGQPRKCSSRRNAWGNLSYADLITRAIESSPDKRLTLSQIYEWMVRCVPYFKDKGDSNSSAGWKNSIRHNLSLHSRFMRVQNEGTGKSSWWIINPDGGKSGKAPRRRAVSMDNSNKYTKSRGRAAKKKAALQTAPESADDSPSQLSKWPGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMASTELDEVQDDDAPLSPMLYSSSASLSPSVSKPCTVELPRLTDMAGTMNLNDGLTENLMDDLLDNITLPPSQPSPTGGLMQRSSSFPYTTKGSGLGSPTSSFNSTVFGPSSLNSLRQSPMQTIQENKPATFSSMSHYGNQTLQDLLTSDSLSHSDVMMTQSDPLMSQASTAVSAQNSRRNVMLRNDPMMSFAAQPNQGSLVNQNLLHHQHQTQGALGGSRALSNSVSNMGLSESSSLGSAKHQQQSPVSQSMQTLSDSLSGSSLYSTSANLPVMGHEKFPSDLDLDMFNGSLECDMESIIRSELMDADGLDFNFDSLISTQNVVGLNVGNFTGAKQASSQSWVPG", "length": 673, "header": "sp|O43524-1|FOXO3_HUMAN Isoform 1 of Forkhead box protein O3 OS=Homo sapiens OX=9606 GN=FOXO3 PE=1 SV=1 CANONICAL=O43524-1" }, "locus": { "chromosome": "6", "start_pos": 108664852, "end_pos": 108561209, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000343882.10", "url": "https://www.ensembl.org/id/ENST00000343882.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000339527.6", "url": "https://www.ensembl.org/id/ENSP00000339527.6" } ] } }, { "isoform_ac": "O43524-2", "url": "", "sequence": { "sequence": "MRVQNEGTGKSSWWIINPDGGKSGKAPRRRAVSMDNSNKYTKSRGRAAKKKAALQTAPESADDSPSQLSKWPGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMASTELDEVQDDDAPLSPMLYSSSASLSPSVSKPCTVELPRLTDMAGTMNLNDGLTENLMDDLLDNITLPPSQPSPTGGLMQRSSSFPYTTKGSGLGSPTSSFNSTVFGPSSLNSLRQSPMQTIQENKPATFSSMSHYGNQTLQDLLTSDSLSHSDVMMTQSDPLMSQASTAVSAQNSRRNVMLRNDPMMSFAAQPNQGSLVNQNLLHHQHQTQGALGGSRALSNSVSNMGLSESSSLGSAKHQQQSPVSQSMQTLSDSLSGSSLYSTSANLPVMGHEKFPSDLDLDMFNGSLECDMESIIRSELMDADGLDFNFDSLISTQNVVGLNVGNFTGAKQASSQSWVPG", "length": 453, "header": "sp|O43524-2|FOXO3_HUMAN Isoform 2 of Forkhead box protein O3 OS=Homo sapiens OX=9606 GN=FOXO3 PE=1 SV=1 CANONICAL=O43524-1" }, "locus": { "chromosome": "6", "start_pos": 108680751, "end_pos": 108679866, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000540898.1", "url": "https://www.ensembl.org/id/ENST00000540898.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000446316.1", "url": "https://www.ensembl.org/id/ENSP00000446316.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 284, "start_aa": "Ser", "end_pos": 284, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser284", "evidence": [ { "id": "O43524", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43524" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "29301793", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29301793" }, { "id": "O43524", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O43524" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 286, "start_aa": "Ser", "end_pos": 286, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser286", "evidence": [ { "id": "O43524", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43524" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "29301793", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29301793" }, { "id": "O43524", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O43524" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 296, "start_aa": "Thr", "end_pos": 296, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr296", "evidence": [ { "id": "O43524", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43524" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "29301793", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29301793" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 411, "start_aa": "Ser", "end_pos": 411, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser411", "evidence": [ { "id": "O43524", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43524" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "29301793", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29301793" }, { "id": "O43524", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O43524" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 418, "start_aa": "Thr", 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"GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "response to starvation", "id": "GO:0042594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042594", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "cellular response to nerve growth factor stimulus", "id": "GO:1990090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990090", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "cellular response to glucose starvation", "id": "GO:0042149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042149", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "positive regulation of erythrocyte differentiation", "id": "GO:0045648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045648", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "oocyte maturation", "id": "GO:0001556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001556", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "positive regulation of reactive oxygen species biosynthetic process", "id": "GO:1903428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903428", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell apoptotic process", "id": "GO:2000353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000353", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "brain morphogenesis", "id": "GO:0048854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048854", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "tumor necrosis factor-mediated signaling pathway", "id": "GO:0033209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033209", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "DNA damage response, signal transduction by p53 class mediator", "id": "GO:0030330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030330", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "neuronal stem cell population maintenance", "id": "GO:0097150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097150", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:0097192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097192", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "response to fatty acid", "id": "GO:0070542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070542", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "cellular response to corticosterone stimulus", "id": "GO:0071386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071386", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "positive regulation of regulatory T cell differentiation", "id": "GO:0045591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045591", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "ovulation from ovarian follicle", "id": "GO:0001542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001542", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "response to dexamethasone", "id": "GO:0071548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071548", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "response to water-immersion restraint stress", "id": "GO:1990785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990785", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "regulation of neural precursor cell proliferation", "id": "GO:2000177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000177", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "mitochondrial transcription", "id": "GO:0006390", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006390", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "positive regulation of muscle atrophy", "id": "GO:0014737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014737", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 14, "go_terms": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "transcription coregulator binding", "id": "GO:0001221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001221", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "mitochondrial transcription factor activity", "id": "GO:0034246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034246", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 9, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" }, { "name": "RNA polymerase II transcription repressor complex", "id": "GO:0090571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090571", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 159, "end_pos": 161, "annotation": "n_glycosylation_sequon" }, { "start_pos": 201, "end_pos": 203, "annotation": "n_glycosylation_sequon" }, { "start_pos": 213, "end_pos": 215, "annotation": "n_glycosylation_sequon" }, { "start_pos": 316, "end_pos": 318, "annotation": "n_glycosylation_sequon" }, { "start_pos": 393, "end_pos": 395, "annotation": "n_glycosylation_sequon" }, { "start_pos": 431, "end_pos": 433, "annotation": "n_glycosylation_sequon" }, { "start_pos": 467, "end_pos": 469, "annotation": "n_glycosylation_sequon" }, { "start_pos": 617, "end_pos": 619, "annotation": "n_glycosylation_sequon" }, { "start_pos": 658, "end_pos": 660, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Deacetylation by SIRT1 or SIRT2 stimulates interaction of FOXO3 with SKP2 and facilitates SCF(SKP2)-mediated FOXO3 ubiquitination and proteasomal degradation (PubMed:21841822). Deacetylation by SIRT2 stimulates FOXO3-mediated transcriptional activity in response to oxidative stress (By similarity). Deacetylated by SIRT3 (PubMed:23283301). Deacetylation by SIRT3 stimulates FOXO3-mediated mtDNA transcriptional activity in response to metabolic stress (PubMed:23283301).", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" }, { "database": "PubMed", "id": "21841822", "url": "https://glygen.org/publication/PubMed/21841822" }, { "database": "PubMed", "id": "23283301", "url": "https://glygen.org/publication/PubMed/23283301" } ] }, { "annotation": "Heavily methylated by SET9 which decreases stability, while moderately increasing transcriptional activity. The main methylation site is Lys-271. Methylation doesn't affect subcellular location.", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" }, { "database": "PubMed", "id": "22820736", "url": "https://glygen.org/publication/PubMed/22820736" } ] }, { "annotation": "In the presence of survival factors such as IGF-1, phosphorylated on Thr-32 and Ser-253 by AKT1/PKB (PubMed:10102273). This phosphorylated form then interacts with 14-3-3 proteins and is retained in the cytoplasm (PubMed:10102273). Survival factor withdrawal induces dephosphorylation and promotes translocation to the nucleus where the dephosphorylated protein induces transcription of target genes and triggers apoptosis (PubMed:10102273). Although AKT1/PKB doesn't appear to phosphorylate Ser-315 directly, it may activate other kinases that trigger phosphorylation at this residue (PubMed:10102273, PubMed:11154281). Phosphorylated by STK4/MST1 on Ser-209 upon oxidative stress, which leads to dissociation from YWHAB/14-3-3-beta and nuclear translocation (PubMed:16751106). Phosphorylated by PIM1 (PubMed:18593906). Phosphorylation by AMPK leads to the activation of transcriptional activity without affecting subcellular localization (PubMed:17711846). In response to metabolic stress, phosphorylated by AMPK on Ser-30 which mediates FOXO3 mitochondrial translocation (PubMed:29445193). Phosphorylation by MAPKAPK5 promotes nuclear localization and DNA-binding, leading to induction of miR-34b and miR-34c expression, 2 post-transcriptional regulators of MYC that bind to the 3'UTR of MYC transcript and prevent its translation (PubMed:21329882). Phosphorylated by CHUK/IKKA and IKBKB/IKKB (PubMed:15084260). TNF-induced inactivation of FOXO3 requires its phosphorylation at Ser-644 by IKBKB/IKKB which promotes FOXO3 retention in the cytoplasm, polyubiquitination and ubiquitin-mediated proteasomal degradation (PubMed:15084260). May be dephosphorylated by calcineurin A on Ser-299 which abolishes FOXO3 transcriptional activity (By similarity). In cancer cells, ERK mediated-phosphorylation of Ser-12 is required for mitochondrial translocation of FOXO3 in response to metabolic stress or chemotherapeutic agents (PubMed:29445193). Phosphorylation at Ser-253 promotes its degradation by the proteasome (PubMed:30513302). Dephosphorylation at Ser-253 by protein phosphatase 2A (PPP2CA) promotes its stabilization; interaction with PPP2CA is enhanced by AMBRA1 (PubMed:30513302).", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" }, { "database": "PubMed", "id": "21329882", "url": "https://glygen.org/publication/PubMed/21329882" }, { "database": "PubMed", "id": "16751106", "url": "https://glygen.org/publication/PubMed/16751106" }, { "database": "PubMed", "id": "30513302", "url": "https://glygen.org/publication/PubMed/30513302" }, { "database": "PubMed", "id": "18593906", "url": "https://glygen.org/publication/PubMed/18593906" }, { "database": "PubMed", "id": "11154281", "url": "https://glygen.org/publication/PubMed/11154281" }, { "database": "PubMed", "id": "17711846", "url": "https://glygen.org/publication/PubMed/17711846" }, { "database": "PubMed", "id": "15084260", "url": "https://glygen.org/publication/PubMed/15084260" }, { "database": "PubMed", "id": "29445193", "url": "https://glygen.org/publication/PubMed/29445193" }, { "database": "PubMed", "id": "10102273", "url": "https://glygen.org/publication/PubMed/10102273" } ] }, { "annotation": "Polyubiquitinated. Ubiquitinated by a SCF complex containing SKP2, leading to proteasomal degradation.", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" }, { "database": "PubMed", "id": "21841822", "url": "https://glygen.org/publication/PubMed/21841822" } ] }, { "annotation": "The N-terminus is cleaved following import into the mitochondrion.", "evidence": [ { "database": "UniProtKB", "id": "O43524", "url": "https://www.uniprot.org/uniprot/O43524" }, { "database": "PubMed", "id": "29445193", "url": "https://glygen.org/publication/PubMed/29445193" } ] } ], "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": [ 431 ], "o_linked_sites": [ 284, 286, 296, 411, 418, 475, 476, 482, 551, 666 ], "snv_sites": [ 284, 296, 349, 411, 418, 431, 433, 475, 476, 482, 515, 551, 558, 582 ], "glycation_sites": [], "phosphorylation_sites": [ 7, 12, 26, 30, 32, 43, 173, 179, 209, 215, 243, 253, 280, 284, 286, 289, 294, 299, 311, 315, 318, 321, 325, 330, 344, 355, 399, 413, 421, 425, 427, 551, 555, 574, 588, 626, 644 ], "sequon_annotation_sites": [ { "start_pos": 159, "end_pos": 161 }, { "start_pos": 201, "end_pos": 203 }, { "start_pos": 213, "end_pos": 215 }, { "start_pos": 316, "end_pos": 318 }, { "start_pos": 393, "end_pos": 395 }, { "start_pos": 431, "end_pos": 433 }, { "start_pos": 467, "end_pos": 469 }, { "start_pos": 617, "end_pos": 619 }, { "start_pos": 658, "end_pos": 660 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 11 }, { "field": "total_sites", "count": 11 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 10 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "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": 11 }, { "field": "total_sites", "count": 11 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 10 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "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": 80 }, { "field": "total_sites", "count": 37 } ], "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": 19 }, { "field": "total_sites", "count": 14 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 17 }, { "field": "total_sites", "count": 13 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 466 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }