{ "uniprot_canonical_ac": "O95863-1", "uniprot_ac": "O95863", "uniprot_id": "SNAI1_HUMAN", "mass": { "chemical_mass": 29083.0, "monoisotopic_mass": 29083.0 }, "refseq": { "ac": "NP_005976", "name": "zinc finger protein SNAI1", "summary": "The Drosophila embryonic protein snail is a zinc finger transcriptional repressor which downregulates the expression of ectodermal genes within the mesoderm. The nuclear protein encoded by this gene is structurally similar to the Drosophila snail protein, and is also thought to be critical for mesoderm formation in the developing embryo. At least two variants of a similar processed pseudogene have been found on chromosome 2. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005976" }, "gene_names": [ { "name": "SNAI1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95863", "id": "O95863" }, { "name": "SNAH", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95863", "id": "O95863" }, { "name": "SNAI1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005976", "id": "NP_005976" }, { "name": "dJ710H13.1; SLUGH2; SNA; SNAH; SNAIL; SNAIL1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005976", "id": "NP_005976" } ], "protein_names": [ { "name": "Zinc finger protein SNAI1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95863" }, { "name": "Protein snail homolog 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95863" }, { "name": "Protein sna", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95863" }, { "name": "snail 1 zinc finger protein; snail 1 homolog; snail family zinc finger 1; protein sna; protein snail homolog 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005976", "id": "NP_005976" }, { "name": "zinc finger protein SNAI1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005976", "id": "NP_005976" } ], "function": [ { "annotation": "Decidual stromal cells-derived exosomes incurred insufficient migration and invasion of trophoblast by disturbing of beta-TrCP-mediated snail ubiquitination and degradation in unexplained recurrent spontaneous abortion. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005976", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005976" }, { "database": "PubMed", "id": "38195659", "url": "https://glygen.org/publication/PubMed/38195659" } ] }, { "annotation": "Dual role of Snail1 as transcriptional repressor and activator. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_005976", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005976" }, { "database": "PubMed", "id": "38043804", "url": "https://glygen.org/publication/PubMed/38043804" } ] }, { "annotation": "Expression of Tumor Suppressor FHIT Is Regulated by the LINC00173-SNAIL Axis in Human Lung Adenocarcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005976", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005976" }, { "database": "PubMed", "id": "38069335", "url": "https://glygen.org/publication/PubMed/38069335" } ] }, { "annotation": "Formation of an invasion-permissive matrix requires TGFbeta/SNAIL1-regulated alternative splicing of fibronectin. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005976", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005976" }, { "database": "PubMed", "id": "37964360", "url": "https://glygen.org/publication/PubMed/37964360" } ] }, { "annotation": "GATA6-AS1 suppresses epithelial-mesenchymal transition of pancreatic cancer under hypoxia through regulating SNAI1 mRNA stability. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005976", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005976" }, { "database": "PubMed", "id": "38057853", "url": "https://glygen.org/publication/PubMed/38057853" } ] }, { "annotation": "Involved in induction of the epithelial to mesenchymal transition (EMT), formation and maintenance of embryonic mesoderm, growth arrest, survival and cell migration. Binds to 3 E-boxes of the E-cadherin/CDH1 gene promoter and to the promoters of CLDN7 and KRT8 and, in association with histone demethylase KDM1A which it recruits to the promoters, causes a decrease in dimethylated H3K4 levels and represses transcription (PubMed:20389281, PubMed:20562920). The N-terminal SNAG domain competes with histone H3 for the same binding site on the histone demethylase complex formed by KDM1A and RCOR1, and thereby inhibits demethylation of histone H3 at 'Lys-4' (in vitro) (PubMed:20389281, PubMed:21300290, PubMed:23721412). During EMT, involved with LOXL2 in negatively regulating pericentromeric heterochromatin transcription (By similarity). SNAI1 recruits LOXL2 to pericentromeric regions to oxidize histone H3 and repress transcription which leads to release of heterochromatin component CBX5/HP1A, enabling chromatin reorganization and acquisition of mesenchymal traits (By similarity). Associates with EGR1 and SP1 to mediate tetradecanoyl phorbol acetate (TPA)-induced up-regulation of CDKN2B, possibly by binding to the CDKN2B promoter region 5'-TCACA-3. In addition, may also activate the CDKN2B promoter by itself.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863#function" }, { "database": "PubMed", "id": "20562920", "url": "https://glygen.org/publication/PubMed/20562920" }, { "database": "PubMed", "id": "10655587", "url": "https://glygen.org/publication/PubMed/10655587" }, { "database": "PubMed", "id": "20121949", "url": "https://glygen.org/publication/PubMed/20121949" }, { "database": "PubMed", "id": "21952048", "url": "https://glygen.org/publication/PubMed/21952048" }, { "database": "PubMed", "id": "16096638", "url": "https://glygen.org/publication/PubMed/16096638" }, { "database": "PubMed", "id": "15647282", "url": "https://glygen.org/publication/PubMed/15647282" }, { "database": "PubMed", "id": "20389281", "url": "https://glygen.org/publication/PubMed/20389281" }, { "database": "PubMed", "id": "21300290", "url": "https://glygen.org/publication/PubMed/21300290" }, { "database": "PubMed", "id": "23721412", "url": "https://glygen.org/publication/PubMed/23721412" }, { "database": "UniProtKB", "id": "Q02085", "url": "https://www.uniprot.org/uniprot/Q02085#function" } ] }, { "annotation": "The Drosophila embryonic protein snail is a zinc finger transcriptional repressor which downregulates the expression of ectodermal genes within the mesoderm. The nuclear protein encoded by this gene is structurally similar to the Drosophila snail protein, and is also thought to be critical for mesoderm formation in the developing embryo. At least two variants of a similar processed pseudogene have been found on chromosome 2. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_005976", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005976" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O95863", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95863" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 52, "end_pos": 52, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "R", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NPT->NRT).", "chr_id": "20", "chr_pos": "49983896", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "P52", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 100, "end_pos": 100, "sequence_org": "S", "sequence_mut": "A", "comment": "Lower sensitivity to BTRC-triggered degradation and impaired phosphorylation by GSK3B; when associated with A-96. Lower sensitivity to BTRC-triggered degradation, impaired phosphorylation by GSK3B and loss of cytoplasmic localization; when associated with A-96; A-107; A-111; A-115 and A-119. Does not affect NOTCH1-induced degradation; when associated with A-96. Abolishes phosphorylation at S-96.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "15448698", "url": "https://glygen.org/publication/PubMed/15448698" }, { "database": "PubMed", "id": "20305697", "url": "https://glygen.org/publication/PubMed/20305697" }, { "database": "PubMed", "id": "22128911", "url": "https://glygen.org/publication/PubMed/22128911" } ] }, { "start_pos": 104, "end_pos": 104, "sequence_org": "S", "sequence_mut": "A", "comment": "Increases protein stability, does not affect repressor activity on E-cadherin/CDH1 promoter, preferentially localizes to the nucleus, induces a more aggressive tissue invasion program and impairs phosphorylation by GSK3B, binding to BTRC and ubiquitination; when associated with A-107. Impairs phosphorylation in the serine-rich domain/region; when associated with A-92 and A-107. Abolishes phosphorylation at S-96.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "20305697", "url": "https://glygen.org/publication/PubMed/20305697" }, { "database": "PubMed", "id": "15647282", "url": "https://glygen.org/publication/PubMed/15647282" }, { "database": "PubMed", "id": "19923321", "url": "https://glygen.org/publication/PubMed/19923321" } ] }, { "start_pos": 107, "end_pos": 107, "sequence_org": "S", "sequence_mut": "A", "comment": "Lower sensitivity to BTRC-triggered degradation, impaired phosphorylation by GSK3B and loss of cytoplasmic localization; when associated with A-111; A-115 and A-119. Lower sensitivity to BTRC-triggered degradation, impaired phosphorylation by GSK3B and loss of cytoplasmic localization; when associated with A-96; A-100; A-111; A-115 and A-119. Increases protein stability, does not affect repressor activity on E-cadherin promoter, preferentially localizes to the nucleus, induces a more aggressive tissue invasion program and impairs phosphorylation by GSK3B, binding to BTRC and ubiquitination; when associated with A-104. Impairs phosphorylation in the serine-rich region; when associated with A-92 and A-104. Abolishes phosphorylation at S-96.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "15448698", "url": "https://glygen.org/publication/PubMed/15448698" }, { "database": "PubMed", "id": "20305697", "url": "https://glygen.org/publication/PubMed/20305697" }, { "database": "PubMed", "id": "15647282", "url": "https://glygen.org/publication/PubMed/15647282" }, { "database": "PubMed", "id": "19923321", "url": "https://glygen.org/publication/PubMed/19923321" } ] }, { "start_pos": 107, "end_pos": 107, "sequence_org": "S", "sequence_mut": "E", "comment": "Predominantly localized to the cytoplasm; when associated with E-111; E-115 and E-119.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "15448698", "url": "https://glygen.org/publication/PubMed/15448698" }, { "database": "PubMed", "id": "20305697", "url": "https://glygen.org/publication/PubMed/20305697" }, { "database": "PubMed", "id": "15647282", "url": "https://glygen.org/publication/PubMed/15647282" }, { "database": "PubMed", "id": "19923321", "url": "https://glygen.org/publication/PubMed/19923321" } ] }, { "start_pos": 111, "end_pos": 111, "sequence_org": "S", "sequence_mut": "A", "comment": "Lower sensitivity to BTRC-triggered degradation, impaired phosphorylation by GSK3B and loss of cytoplasmic localization; when associated with A-107; A-115 and A-119. Lower sensitivity to BTRC-triggered degradation, impaired phosphorylation by GSK3B and loss of cytoplasmic localization; when associated with A-96; A-100; A-107; A-115 and A-119.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "15448698", "url": "https://glygen.org/publication/PubMed/15448698" } ] }, { "start_pos": 111, "end_pos": 111, "sequence_org": "S", "sequence_mut": "E", "comment": "Predominantly localized to the cytoplasm; when associated with E-107; E-115 and E-119.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "15448698", "url": "https://glygen.org/publication/PubMed/15448698" } ] }, { "start_pos": 115, "end_pos": 115, "sequence_org": "S", "sequence_mut": "A", "comment": "Lower sensitivity to BTRC-triggered degradation, impaired phosphorylation by GSK3B and loss of cytoplasmic localization; when associated with A-107; A-111 and A-119. Lower sensitivity to BTRC-triggered degradation, impaired phosphorylation by GSK3B and loss of cytoplasmic localization; when associated with A-96; A-100; A-107; A-111 and A-119.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "15448698", "url": "https://glygen.org/publication/PubMed/15448698" } ] }, { "start_pos": 115, "end_pos": 115, "sequence_org": "S", "sequence_mut": "E", "comment": "Predominantly localized to the cytoplasm; when associated with E-107; E-111 and E-119.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "15448698", "url": "https://glygen.org/publication/PubMed/15448698" } ] }, { "start_pos": 119, "end_pos": 119, "sequence_org": "S", "sequence_mut": "A", "comment": "Lower sensitivity to BTRC-triggered degradation, impaired phosphorylation by GSK3B and loss of cytoplasmic localization; when associated with A-107; A-111 and A-119. Lower sensitivity to BTRC-triggered degradation, impaired phosphorylation by GSK3B and loss of cytoplasmic localization; when associated with A-96; A-100; A-107; A-111 and A-115.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "15448698", "url": "https://glygen.org/publication/PubMed/15448698" } ] }, { "start_pos": 119, "end_pos": 119, "sequence_org": "S", "sequence_mut": "E", "comment": "Predominantly localized to the cytoplasm; when associated with E-107; E-111 and E-115.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "15448698", "url": "https://glygen.org/publication/PubMed/15448698" } ] }, { "start_pos": 11, "end_pos": 11, "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes PKA phosphorylation. Strongly decreases repressor activity on E-cadherin/CDH1 and CLDN1 promoters. Increases protein stability. Affects function in EMT.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "19923321", "url": "https://glygen.org/publication/PubMed/19923321" } ] }, { "start_pos": 137, "end_pos": 137, "sequence_org": "K", "sequence_mut": "R", "comment": "Lower sensitivity to FBXL14-triggered degradation. Lower sensitivity to FBXL14-triggered degradation; when associated with R-146. Complete loss of sensitivity to FBXL14- and BTRC-triggered degradation and loss of ability to repress E-cadherin; when associated with R-98 and R-146.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "16096638", "url": "https://glygen.org/publication/PubMed/16096638" }, { "database": "PubMed", "id": "19955572", "url": "https://glygen.org/publication/PubMed/19955572" } ] }, { "start_pos": 146, "end_pos": 146, "sequence_org": "K", "sequence_mut": "R", "comment": "Lower sensitivity to FBXL14-triggered degradation. Lower sensitivity to FBXL14-triggered degradation; when associated with R-137. Complete loss of sensitivity to FBXL14- and BTRC-triggered degradation; when associated with R-98 and R-137.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "19955572", "url": "https://glygen.org/publication/PubMed/19955572" } ] }, { "start_pos": 151, "end_pos": 152, "sequence_org": "RK", "sequence_mut": "EE", "comment": "Does not affect binding to KPNB1, KPNA2, IPO7 or TNPO1.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "19386897", "url": "https://glygen.org/publication/PubMed/19386897" } ] }, { "start_pos": 156, "end_pos": 156, "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes binding to KPNB1, KPNA2, IPO7 and TNPO1 and nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "19386897", "url": "https://glygen.org/publication/PubMed/19386897" } ] }, { "start_pos": 161, "end_pos": 161, "sequence_org": "K", "sequence_mut": "E", "comment": "Does not affect binding to KPNB1, KPNA2, IPO7 or TNPO1. No change in subcellular localization. Impairs binding to KPNB1, KPNA2, IPO7 and TNPO1 and abolishes nuclear localization, DNA binding and repressor activity on E-cadherin/CDH1 promoter; when associated with E-170. Abolishes binding to KPNB1, KPNA2, IPO7 and TNPO1 and nuclear localization; when associated with E-187 and/or E-220.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "19386897", "url": "https://glygen.org/publication/PubMed/19386897" } ] }, { "start_pos": 16, "end_pos": 16, "sequence_org": "K", "sequence_mut": "R", "comment": "Does not affect E-cadherin repression; when associated with R-9.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "16096638", "url": "https://glygen.org/publication/PubMed/16096638" } ] }, { "start_pos": 170, "end_pos": 170, "sequence_org": "K", "sequence_mut": "E", "comment": "Does not affect binding to KPNB1, KPNA2, IPO7 or TNPO1. No change in subcellular localization. Impairs binding to KPNB1, KPNA2, IPO7 and TNPO1 and abolishes nuclear localization, DNA binding and repressor activity on E-cadherin/CDH1 promoter; when associated with E-161.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "19386897", "url": "https://glygen.org/publication/PubMed/19386897" } ] }, { "start_pos": 182, "end_pos": 182, "sequence_org": "C", "sequence_mut": "A", "comment": "Impairs binding to KPNB1, IPO7 and TNPO1 and abolishes binding to KPNA2. Localizes to cytoplasm and nucleus.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "19386897", "url": "https://glygen.org/publication/PubMed/19386897" } ] }, { "start_pos": 187, "end_pos": 187, "sequence_org": "K", "sequence_mut": "E", "comment": "Does not affect binding to KPNB1, KPNA2, IPO7 or TNPO1. Impairs binding to KPNB1, KPNA2, IPO7 and TNPO1 and abolishes nuclear localization, DNA binding and repressor activity on E-cadherin/CDH1 promoter; when associated with E-191. Abolishes binding to KPNB1, KPNA2, IPO7 and TNPO1 and nuclear localization; when associated with E-161 and/or E-220.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "19386897", "url": "https://glygen.org/publication/PubMed/19386897" } ] }, { "start_pos": 191, "end_pos": 191, "sequence_org": "R", "sequence_mut": "E", "comment": "Mildly reduces binding to KPNB1 and nuclear import. Strongly reduces binding to KPNB1 and nuclear import; when associated with A-193. Loss of binding to KPNB1 and nuclear import; when associated with A-193 and A-196.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "24699649", "url": "https://glygen.org/publication/PubMed/24699649" } ] }, { "start_pos": 191, "end_pos": 191, "sequence_org": "R", "sequence_mut": "E", "comment": "Mildly reduces binding to KPNB1. Does not affect binding to KPNA2, IPO7 or TNPO1.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "19386897", "url": "https://glygen.org/publication/PubMed/19386897" } ] }, { "start_pos": 193, "end_pos": 193, "sequence_org": "W", "sequence_mut": "A", "comment": "Mildly reduces binding to KPNB1 and nuclear import. Strongly reduces binding to KPNB1 and nuclear import; when associated with E-191. Loss of binding to KPNB1 and nuclear import; when associated with E-191 and A-196.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "24699649", "url": "https://glygen.org/publication/PubMed/24699649" } ] }, { "start_pos": 196, "end_pos": 196, "sequence_org": "Q", "sequence_mut": "A", "comment": "Loss of binding to KPNB1 and nuclear import; when associated with E-191 and A-193.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "24699649", "url": "https://glygen.org/publication/PubMed/24699649" } ] }, { "start_pos": 203, "end_pos": 203, "sequence_org": "T", "sequence_mut": "A", "comment": "Abolishes LATS2 phosphorylation. Does not affect binding to LATS2. Reduces protein stability. Equally distributed between nucleus and cytoplasm. Increases capacity to associate with nuclear pore importins. Unable to accumulate in the nucleus. Does not abrogate function.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "21952048", "url": "https://glygen.org/publication/PubMed/21952048" } ] }, { "start_pos": 203, "end_pos": 203, "sequence_org": "T", "sequence_mut": "E", "comment": "Exclusively localizes to the cytoplasm. Reduces capacity to associate with nuclear pore importins. Unable to enter the nucleus. Does not abrogate function.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "21952048", "url": "https://glygen.org/publication/PubMed/21952048" } ] }, { "start_pos": 210, "end_pos": 210, "sequence_org": "C", "sequence_mut": "A", "comment": "Impairs binding to KPNB1, IPO7 and TNPO1 and abolishes binding to KPNA2. Localizes to cytoplasm and nucleus.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "19386897", "url": "https://glygen.org/publication/PubMed/19386897" } ] }, { "start_pos": 215, "end_pos": 215, "sequence_org": "R", "sequence_mut": "E", "comment": "Impairs binding to KPNB1, KPNA2, IPO7 and TNPO1. No change in subcellular localization.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "19386897", "url": "https://glygen.org/publication/PubMed/19386897" } ] }, { "start_pos": 220, "end_pos": 220, "sequence_org": "R", "sequence_mut": "E", "comment": "Does not affect binding to KPNB1, KPNA2, IPO7 or TNPO1. No change in subcellular localization. Impairs binding to KPNB1, KPNA2, IPO7 and TNPO1; when associated with E-222 and E-224. Impairs binding to KPNB1, KPNA2, IPO7 and TNPO1 and abolishes nuclear localization, DNA binding and repressor activity on E-cadherin/CDH1 promoter; when associated with E-224. Abolishes binding to KPNB1, KPNA2, IPO7 and TNPO1 and nuclear localization; when associated with E-161 and/or E-187.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "19386897", "url": "https://glygen.org/publication/PubMed/19386897" } ] }, { "start_pos": 222, "end_pos": 222, "sequence_org": "N", "sequence_mut": "E", "comment": "Does not affect binding to KPNB1, KPNA2, IPO7 or TNPO1. No change in subcellular localization. Impairs binding to KPNB1, KPNA2, IPO7 and TNPO1; when associated with E-220 and E-224.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "19386897", "url": "https://glygen.org/publication/PubMed/19386897" } ] }, { "start_pos": 224, "end_pos": 224, "sequence_org": "R", "sequence_mut": "E", "comment": "Does not affect binding to KPNB1, KPNA2, IPO7 or TNPO1. No change in subcellular localization. Impairs binding to KPNB1, KPNA2, IPO7 and TNPO1; when associated with E-220 and E-222. Impairs binding to KPNB1, KPNA2, IPO7 and TNPO1 and abolishes nuclear localization, DNA binding and repressor activity on E-cadherin/CDH1 promoter; when associated with E-220.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "19386897", "url": "https://glygen.org/publication/PubMed/19386897" } ] }, { "start_pos": 224, "end_pos": 224, "sequence_org": "R", "sequence_mut": "E", "comment": "Mildly reduces binding to KPNB1 and nuclear import. Strongly reduces binding to KPNB1 and nuclear import; when associated with A-228.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "24699649", "url": "https://glygen.org/publication/PubMed/24699649" } ] }, { "start_pos": 228, "end_pos": 228, "sequence_org": "Q", "sequence_mut": "A", "comment": "Very minor effect on binding to KPNB1 and nuclear import. Strongly reduces binding to KPNB1 and nuclear import; when associated with E-224.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "24699649", "url": "https://glygen.org/publication/PubMed/24699649" } ] }, { "start_pos": 232, "end_pos": 235, "sequence_org": "DVKK", "sequence_mut": "KVEE", "comment": "Does not affect binding to KPNB1, KPNA2, IPO7 or TNPO1.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "19386897", "url": "https://glygen.org/publication/PubMed/19386897" } ] }, { "start_pos": 238, "end_pos": 238, "sequence_org": "C", "sequence_mut": "A", "comment": "Impairs binding to KPNB1 and IPO7 and abolishes binding to KPNA2 and TNPO1 and nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "19386897", "url": "https://glygen.org/publication/PubMed/19386897" } ] }, { "start_pos": 239, "end_pos": 239, "sequence_org": "Q", "sequence_mut": "E", "comment": "Does not affect binding to KPNB1, KPNA2, IPO7, TNPO1 or DNA.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "19386897", "url": "https://glygen.org/publication/PubMed/19386897" } ] }, { "start_pos": 246, "end_pos": 246, "sequence_org": "S", "sequence_mut": "A", "comment": "Decreases repression activity on E-cadherin/CDH1, occludin and aromatase promoters. Preferentially localizes to the cytoplasm. Abolishes phosphorylation by PAK1.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "15833848", "url": "https://glygen.org/publication/PubMed/15833848" } ] }, { "start_pos": 247, "end_pos": 247, "sequence_org": "R", "sequence_mut": "E", "comment": "Mildly reduces binding to KPNB1 and nuclear import.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "24699649", "url": "https://glygen.org/publication/PubMed/24699649" } ] }, { "start_pos": 2, "end_pos": 2, "sequence_org": "P", "sequence_mut": "A", "comment": "Abolishes repressor activity on E-cadherin/CDH1 promoter and binding to KDM1A.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "20562920", "url": "https://glygen.org/publication/PubMed/20562920" }, { "database": "PubMed", "id": "20389281", "url": "https://glygen.org/publication/PubMed/20389281" } ] }, { "start_pos": 3, "end_pos": 3, "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of interaction with KDM1A.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "20389281", "url": "https://glygen.org/publication/PubMed/20389281" } ] }, { "start_pos": 4, "end_pos": 4, "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of interaction with KDM1A.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "20389281", "url": "https://glygen.org/publication/PubMed/20389281" } ] }, { "start_pos": 5, "end_pos": 5, "sequence_org": "F", "sequence_mut": "A", "comment": "Loss of interaction with KDM1A.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "20389281", "url": "https://glygen.org/publication/PubMed/20389281" } ] }, { "start_pos": 8, "end_pos": 8, "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of interaction with KDM1A.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "20389281", "url": "https://glygen.org/publication/PubMed/20389281" } ] }, { "start_pos": 92, "end_pos": 92, "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes CK2 phosphorylation. Strongly decreases repressor activity on E-cadherin/CDH1 and CLDN1 promoters. Increases protein stability. Affects function in cell survival. Abolishes phosphorylation in the serine-rich region; when associated with A-104 and A-107.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "19923321", "url": "https://glygen.org/publication/PubMed/19923321" } ] }, { "start_pos": 92, "end_pos": 92, "sequence_org": "S", "sequence_mut": "E", "comment": "Does not affect repressor activity on E-cadherin/CDH1 promoter.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "19923321", "url": "https://glygen.org/publication/PubMed/19923321" } ] }, { "start_pos": 96, "end_pos": 96, "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes recognition and ubiquitination by BTRC which increases steady state level and half-life. Preferentially localizes to the nucleus. Induces a more aggressive tissue invasion program. Lower sensitivity to BTRC-triggered degradation, impairs phosphorylation by GSK3B and does not affect NOTCH1-induced degradation; when associated with A-100. Lower sensitivity to BTRC-triggered degradation, impaired phosphorylation by GSK3B and loss of cytoplasmic localization; when associated with A-100; A-107; A-111; A-115 and A-119.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "15448698", "url": "https://glygen.org/publication/PubMed/15448698" }, { "database": "PubMed", "id": "20305697", "url": "https://glygen.org/publication/PubMed/20305697" }, { "database": "PubMed", "id": "22128911", "url": "https://glygen.org/publication/PubMed/22128911" }, { "database": "PubMed", "id": "15647282", "url": "https://glygen.org/publication/PubMed/15647282" } ] }, { "start_pos": 98, "end_pos": 98, "sequence_org": "K", "sequence_mut": "R", "comment": "No change. Complete loss of sensitivity to FBXL14- and BTRC-triggered degradation and loss of ability to repress E-cadherin/CDH1; when associated with R-137 and R-146.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "16096638", "url": "https://glygen.org/publication/PubMed/16096638" }, { "database": "PubMed", "id": "19955572", "url": "https://glygen.org/publication/PubMed/19955572" } ] }, { "start_pos": 9, "end_pos": 9, "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of interaction with KDM1A.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "20389281", "url": "https://glygen.org/publication/PubMed/20389281" } ] }, { "start_pos": 9, "end_pos": 9, "sequence_org": "K", "sequence_mut": "R", "comment": "Does not affect E-cadherin/CDH1 repression; when associated with R-16.", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "16096638", "url": "https://glygen.org/publication/PubMed/16096638" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "66.27", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124216", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124216" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "56.61", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000124216", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124216" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "62.78", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124216", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124216" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "60.85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124216", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124216" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "74.84", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124216", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124216" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "63.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124216", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124216" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "65.42", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124216", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124216" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "67.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124216", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124216" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "81.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124216", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124216" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "65.33", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124216", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124216" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "64.94", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124216", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124216" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "70.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124216", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124216" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "78.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124216", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124216" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95863", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95863" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", 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"https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"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, 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"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 - 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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": "O95863", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95863" } ], "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/O95863" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"subtype": "O-GlcNAcylation", "site_category": "reported", "site_seq": "S", "relation": "attached", "comment": "O-linked (GlcNAc) serine O-GlcNAcylation", "start_pos": 112, "start_aa": "Ser", "end_pos": 112, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser112", "evidence": [ { "id": "O95863", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95863#ptm_processing" }, { "id": "20959806", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20959806" } ] } ], "phosphorylation": [ { "start_pos": 100, "end_pos": 100, "kinase_uniprot_canonical_ac": "P49841-1", "kinase_gene_name": "GSK3B", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95863" }, { "database": "PubMed", "id": "15448698", "url": "https://glygen.org/publication/PubMed/15448698" }, { "database": "PubMed", "id": "20305697", "url": "https://glygen.org/publication/PubMed/20305697" } ], "site_lbl": "Ser100" }, { "start_pos": 100, "end_pos": 100, "kinase_uniprot_canonical_ac": "Q13315-1", "kinase_gene_name": "ATM", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95863" }, { "database": "PubMed", "id": "23891091", "url": "https://glygen.org/publication/PubMed/23891091" } ], "site_lbl": "Ser100" }, { "start_pos": 100, "end_pos": 100, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "15448698", "url": "https://glygen.org/publication/PubMed/15448698" }, { "database": "iPTMnet", "id": "O95863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95863" }, { "database": "PubMed", "id": "22923499", "url": "https://glygen.org/publication/PubMed/22923499" }, { "database": "PubMed", "id": "23449453", "url": "https://glygen.org/publication/PubMed/23449453" }, { "database": "PubMed", "id": "29618518", "url": "https://glygen.org/publication/PubMed/29618518" } ], "site_lbl": "Ser100" }, { "start_pos": 104, "end_pos": 104, "kinase_uniprot_canonical_ac": "P49841-1", "kinase_gene_name": "GSK3B", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95863" }, { "database": "PubMed", "id": "15448698", "url": "https://glygen.org/publication/PubMed/15448698" }, { "database": "PubMed", "id": "20305697", "url": "https://glygen.org/publication/PubMed/20305697" } ], "site_lbl": "Ser104" }, { "start_pos": 104, "end_pos": 104, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "15647282", "url": "https://glygen.org/publication/PubMed/15647282" }, { "database": "PubMed", "id": "19923321", "url": "https://glygen.org/publication/PubMed/19923321" }, { "database": "PubMed", "id": "15448698", "url": "https://glygen.org/publication/PubMed/15448698" }, { "database": "phospho.ELM", "id": "O95863", "url": "http://phospho.elm.eu.org/byAccession/O95863.html" }, { "database": "iPTMnet", "id": "O95863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95863" }, { "database": "PubMed", "id": "23449453", "url": "https://glygen.org/publication/PubMed/23449453" } ], "site_lbl": "Ser104" }, { "start_pos": 107, "end_pos": 107, "kinase_uniprot_canonical_ac": "P49841-1", "kinase_gene_name": "GSK3B", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95863" }, { "database": "PubMed", "id": "15448698", "url": "https://glygen.org/publication/PubMed/15448698" }, { "database": "PubMed", "id": "20305697", "url": "https://glygen.org/publication/PubMed/20305697" } ], "site_lbl": "Ser107" }, { "start_pos": 107, "end_pos": 107, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "15647282", "url": "https://glygen.org/publication/PubMed/15647282" }, { "database": "PubMed", "id": "19923321", "url": "https://glygen.org/publication/PubMed/19923321" }, { "database": "PubMed", "id": "15448698", "url": "https://glygen.org/publication/PubMed/15448698" }, { "database": "phospho.ELM", "id": "O95863", "url": "http://phospho.elm.eu.org/byAccession/O95863.html" }, { "database": "iPTMnet", "id": "O95863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95863" }, { "database": "PubMed", "id": "23449453", "url": "https://glygen.org/publication/PubMed/23449453" } ], "site_lbl": "Ser107" }, { "start_pos": 111, "end_pos": 111, "kinase_uniprot_canonical_ac": "P49841-1", "kinase_gene_name": "GSK3B", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95863" }, { "database": "PubMed", "id": "15448698", "url": "https://glygen.org/publication/PubMed/15448698" }, { "database": "PubMed", "id": "20305697", "url": "https://glygen.org/publication/PubMed/20305697" } ], "site_lbl": "Ser111" }, { "start_pos": 111, "end_pos": 111, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "15448698", "url": "https://glygen.org/publication/PubMed/15448698" }, { "database": "iPTMnet", "id": "O95863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95863" } ], "site_lbl": "Ser111" }, { 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phosphorylation of snail, a master regulator of epithelial-to-mesenchyme transition, modulates snail's subcellular localization and functions.", "journal": "Cancer research", "date": "2005", "authors": "Yang Z, Rayala S, Nguyen D, Vadlamudi RK, Chen S, Kumar R", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "iPTMnet", "id": "O95863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95863" } ], "reference": [ { "type": "PubMed", "id": "15833848", "url": "https://glygen.org/publication/PubMed/15833848" } ] }, { "title": "Zinc finger domain of Snail functions as a nuclear localization signal for importin beta-mediated nuclear import pathway.", "journal": "Genes Cells", "date": "2005", "authors": "Yamasaki Hideki, Sekimoto Toshihiro, Ohkubo Tadashi, Douchi Tsutomu, Nagata Yukihiro, Ozawa Masayuki, Yoneda Yoshihiro", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": 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A cross-talk between stress signaling and insulin signaling in resistin-treated human endothelial cells.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Shen YH, Zhang L, Gan Y, Wang X, Wang J, LeMaire SA, Coselli JS, Wang XL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "16418168", "url": "https://glygen.org/publication/PubMed/16418168" } ] }, { "title": "c-Jun promotes cellular survival by suppression of PTEN.", "journal": "Cell death and differentiation", "date": "2007", "authors": "Hettinger K, Vikhanskaya F, Poh MK, Lee MK, de Belle I, Zhang JT, Reddy SA, Sabapathy K", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "16676006", "url": "https://glygen.org/publication/PubMed/16676006" } ] }, { "title": "Nuclear receptor TLX prevents retinal dystrophy and recruits the corepressor atrophin1.", "journal": "Genes & development", "date": "2006", "authors": "Zhang CL, Zou Y, Yu RT, Gage FH, Evans RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "16702404", "url": "https://glygen.org/publication/PubMed/16702404" } ] }, { "title": "Identification of a Hoxc8-regulated transcriptional network in mouse embryo fibroblast cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006-07-05", "authors": "Lei Haiyan, Juan Aster H, Kim Moo-Sang, Ruddle Frank H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9762293", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9762293" } ], "reference": [ { "type": "PubMed", "id": "16793922", "url": "https://glygen.org/publication/PubMed/16793922" } ] }, { "title": "Orphan nuclear receptor TLX recruits histone deacetylases to repress transcription and regulate neural stem cell proliferation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Sun G, Yu RT, Evans RM, Shi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "17873065", "url": "https://glygen.org/publication/PubMed/17873065" } ] }, { "title": "Suppression of PTEN expression is essential for antiapoptosis and cellular transformation by oncogenic Ras.", "journal": "Cancer research", "date": "2007", "authors": "Vasudevan KM, Burikhanov R, Goswami A, Rangnekar VM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "17974977", "url": "https://glygen.org/publication/PubMed/17974977" } ] }, { "title": "Repression of PTEN phosphatase by Snail1 transcriptional factor during gamma radiation-induced apoptosis.", "journal": "Molecular and cellular biology", "date": "2008", "authors": "Escriva M, Peiro S, Herranz N, Villagrasa P, Dave N, Montserrat-Sentis B, Murray SA, Franci C, Gridley T, Virtanen I, Garcia de Herreros A", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "18172008", "url": "https://glygen.org/publication/PubMed/18172008" } ] }, { "title": "Ajuba LIM proteins are snail/slug corepressors required for neural crest development in Xenopus.", "journal": "Dev. Cell", "date": "2008", "authors": "Langer EM, Feng Y, Zhaoyuan H, Rauscher FJ 3rd, Kroll KL, Longmore GD", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "reference": [ { "type": "PubMed", "id": "18331720", "url": "https://glygen.org/publication/PubMed/18331720" } ] }, { "title": "Transrepressive function of TLX requires the histone demethylase LSD1.", "journal": "Molecular and cellular biology", "date": "2008", "authors": "Yokoyama A, Takezawa S, Schule R, Kitagawa H, Kato S", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "18391013", "url": "https://glygen.org/publication/PubMed/18391013" } ] }, { "title": "SALL4 is a key regulator of survival and apoptosis in human leukemic cells.", "journal": "Blood", "date": "2008", "authors": "Yang J, Chai L, Gao C, Fowles TC, Alipio Z, Dang H, Xu D, Fink LM, Ward DC, Ma Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "18487508", "url": "https://glygen.org/publication/PubMed/18487508" } ] }, { "title": "Characterization of Snail nuclear import pathways as representatives of C2H2 zinc finger transcription factors.", "journal": "Journal of cell science", "date": "2009", "authors": "Mingot JM, Vega S, Maestro B, Sanz JM, Nieto MA", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "reference": [ { "type": "PubMed", "id": "19386897", "url": "https://glygen.org/publication/PubMed/19386897" } ] }, { "title": "Stem cell factor SALL4 represses the transcriptions of PTEN and SALL1 through an epigenetic repressor complex.", "journal": "PloS one", "date": "2009", "authors": "Lu J, Jeong HW, Kong N, Yang Y, Carroll J, Luo HR, Silberstein LE, Yupoma, Chai L", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "19440552", "url": "https://glygen.org/publication/PubMed/19440552" } ] }, { "title": "Alcohol stimulates activation of Snail, epidermal growth factor receptor signaling, and biomarkers of epithelial-mesenchymal transition in colon and breast cancer cells.", "journal": "Alcoholism, clinical and experimental research", "date": "2010", "authors": "Forsyth CB, Tang Y, Shaikh M, Zhang L, Keshavarzian A", "evidence": [ { "database": "iPTMnet", "id": "O95863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95863" } ], "reference": [ { "type": "PubMed", "id": "19860811", "url": "https://glygen.org/publication/PubMed/19860811" } ] }, { "title": "The polycomb group protein Bmi-1 represses the tumor suppressor PTEN and induces epithelial-mesenchymal transition in human nasopharyngeal epithelial cells.", "journal": "The Journal of clinical investigation", "date": "2009", "authors": "Song LB, Li J, Liao WT, Feng Y, Yu CP, Hu LJ, Kong QL, Xu LH, Zhang X, Liu WL, Li MZ, Zhang L, Kang TB, Fu LW, Huang WL, Xia YF, Tsao SW, Li M, Band V, Band H, Shi QH, Zeng YX, Zeng MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "19884659", "url": "https://glygen.org/publication/PubMed/19884659" } ] }, { "title": "Phosphorylation of serine 11 and serine 92 as new positive regulators of human Snail1 function: potential involvement of casein kinase-2 and the cAMP-activated kinase protein kinase A.", "journal": "Molecular biology of the cell", "date": "2010", "authors": "MacPherson MR, Molina P, Souchelnytskyi S, Wernstedt C, Martin-Perez J, Portillo F, Cano A", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": 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Ming-Che, Wu Wen-Sheng", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "reference": [ { "type": "PubMed", "id": "20121949", "url": "https://glygen.org/publication/PubMed/20121949" } ] }, { "title": "Requirement of the mTOR kinase for the regulation of Maf1 phosphorylation and control of RNA polymerase III-dependent transcription in cancer cells.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Shor B, Wu J, Shakey Q, Toral-Barza L, Shi C, Follettie M, Yu K", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "20233713", "url": "https://glygen.org/publication/PubMed/20233713" } ] }, { "title": "Role of CK1 in GSK3beta-mediated phosphorylation and degradation of snail.", "journal": "Oncogene", "date": "2010", "authors": "Xu Y, Lee SH, Kim HS, Kim NH, Piao S, Park SH, Jung YS, Yook JI, Park BJ, Ha NC", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "iPTMnet", "id": "O95863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95863" } ], "reference": [ { "type": "PubMed", "id": "20305697", "url": "https://glygen.org/publication/PubMed/20305697" } ] }, { "title": "p53 inhibits tumor cell invasion via the degradation of snail protein in hepatocellular carcinoma.", "journal": "FEBS letters", "date": "2010", "authors": "Lim SO, Kim H, Jung G", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "reference": [ { "type": "PubMed", "id": "20385133", "url": "https://glygen.org/publication/PubMed/20385133" } ] }, { "title": "The SNAG domain of Snail1 functions as a molecular hook for recruiting lysine-specific demethylase 1.", "journal": "The EMBO journal", "date": "2010", "authors": "Lin Y, Wu Y, Li J, Dong C, Ye X, Chi YI, Evers BM, Zhou BP", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "reference": [ { "type": "PubMed", "id": "20389281", "url": "https://glygen.org/publication/PubMed/20389281" } ] }, { "title": "mTORC1 directly phosphorylates and regulates human MAF1.", "journal": "Molecular and cellular biology", "date": "2010", "authors": "Michels AA, Robitaille AM, Buczynski-Ruchonnet D, Hodroj W, Reina JH, Hall MN, Hernandez N", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "20516213", "url": "https://glygen.org/publication/PubMed/20516213" } ] }, { "title": "Requirement of the histone demethylase LSD1 in Snai1-mediated transcriptional repression during epithelial-mesenchymal transition.", "journal": "Oncogene", "date": "2010", "authors": "Lin T, Ponn A, Hu X, Law BK, Lu J", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "reference": [ { "type": "PubMed", "id": "20562920", "url": "https://glygen.org/publication/PubMed/20562920" } ] }, { "title": "Protein kinase D1 suppresses epithelial-to-mesenchymal transition through phosphorylation of snail.", "journal": "Cancer research", "date": "2010", "authors": "Du C, Zhang C, Hassan S, Biswas MH, Balaji KC", "evidence": [ { "database": "iPTMnet", "id": "O95863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95863" } ], "reference": [ { "type": "PubMed", "id": "20940406", "url": "https://glygen.org/publication/PubMed/20940406" } ] }, { "title": "Snail1 is stabilized by O-GlcNAc modification in hyperglycaemic condition.", "journal": "The EMBO journal", "date": "2010", "authors": "Park SY, Kim HS, Kim NH, Ji S, Cha SY, Kang JG, Ota I, Shimada K, Konishi N, Nam HW, Hong SW, Yang WH, Roth J, Yook JI, Cho JW", "evidence": [ { "database": "UniProtKB", "id": "O95863", 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"https://glygen.org/publication/PubMed/21289308" } ] }, { "title": "Molecular mimicry and ligand recognition in binding and catalysis by the histone demethylase LSD1-CoREST complex.", "journal": "Structure (London, England : 1993)", "date": "2011", "authors": "Baron R, Binda C, Tortorici M, McCammon JA, Mattevi A", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "reference": [ { "type": "PubMed", "id": "21300290", "url": "https://glygen.org/publication/PubMed/21300290" } ] }, { "title": "Importin alpha protein acts as a negative regulator for Snail protein nuclear import.", "journal": "J. Biol. Chem.", "date": "2011", "authors": "Sekimoto Toshihiro, Miyamoto Yoshimi, Arai Shouko, Yoneda Yoshihiro", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "reference": [ { "type": "PubMed", "id": "21454664", "url": "https://glygen.org/publication/PubMed/21454664" } ] }, { "title": "Poly(ADP-ribose)-dependent regulation of Snail1 protein stability.", "journal": "Oncogene", "date": "2011", "authors": "Rodr\u00edguez M I, Gonz\u00e1lez-Flores A, Dantzer F, Collard J, de Herreros A G, Oliver F J", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "reference": [ { "type": "PubMed", "id": "21577210", "url": "https://glygen.org/publication/PubMed/21577210" } ] }, { "title": "Lats2 kinase potentiates Snail1 activity by promoting nuclear retention upon phosphorylation.", "journal": "The EMBO journal", "date": "2012", "authors": "Zhang K, Rodriguez-Aznar E, Yabuta N, Owen RJ, Mingot JM, Nojima H, Nieto MA, Longmore GD", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "iPTMnet", "id": "O95863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95863" } ], "reference": [ { "type": "PubMed", "id": "21952048", "url": "https://glygen.org/publication/PubMed/21952048" } ] }, { "title": "Stem cell gene SALL4 suppresses transcription through recruitment of DNA methyltransferases.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Yang J, Corsello TR, Ma Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "22128185", "url": "https://glygen.org/publication/PubMed/22128185" } ] }, { "title": "Notch1 binds and induces degradation of Snail in hepatocellular carcinoma.", "journal": "BMC biology", "date": "2011", "authors": "Lim SO, Kim HS, Quan X, Ahn SM, Kim H, Hsieh D, Seong JK, Jung G", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "reference": [ { "type": "PubMed", "id": "22128911", "url": "https://glygen.org/publication/PubMed/22128911" } ] }, { "title": "ZEB2 upregulates integrin \u03b15 expression through cooperation with Sp1 to induce invasion during epithelial-mesenchymal transition of human cancer cells.", "journal": "Carcinogenesis", "date": "2012-03", "authors": "Nam Eun-Hee, Lee Yunhee, Park Young-Kyu, Lee Jung Weon, Kim Semi", "evidence": [ { "database": "Reactome", "id": "R-HSA-9762293", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9762293" } ], "reference": [ { "type": "PubMed", "id": "22227038", "url": "https://glygen.org/publication/PubMed/22227038" } ] }, { "title": "Protein kinase D1 maintains the epithelial phenotype by inducing a DNA-bound, inactive SNAI1 transcriptional repressor complex.", "journal": "PloS one", "date": "2012", "authors": "Bastea LI, Doppler H, Balogun B, Storz P", "evidence": [ { "database": "iPTMnet", "id": "O95863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95863" } ], "reference": [ { "type": "PubMed", "id": "22276203", "url": "https://glygen.org/publication/PubMed/22276203" } ] }, { "title": "Protein kinase D1 mediates anchorage-dependent and -independent growth of tumor cells via the zinc finger transcription factor Snail1.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Eiseler T, Kohler C, Nimmagadda SC, Jamali A, Funk N, Joodi G, Storz P, Seufferlein T", "evidence": [ { "database": "iPTMnet", "id": "O95863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95863" } ], "reference": [ { "type": "PubMed", "id": "22791710", "url": "https://glygen.org/publication/PubMed/22791710" } ] }, { "title": "Activation of the ATM-Snail pathway promotes breast cancer metastasis.", "journal": "Journal of molecular cell biology", "date": "2012", "authors": "Sun M, Guo X, Qian X, Wang H, Yang C, Brinkman KL, Serrano-Gonzalez M, Jope RS, Zhou B, Engler DA, Zhan M, Wong ST, Fu L, Xu B", "evidence": [ { "database": "iPTMnet", "id": "O95863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95863" } ], "reference": [ { "type": "PubMed", "id": "22923499", "url": "https://glygen.org/publication/PubMed/22923499" } ] }, { "title": "Targeting transcription factor SALL4 in acute myeloid leukemia by interrupting its interaction with an epigenetic complex.", "journal": "Blood", "date": "2013", "authors": "Gao C, Dimitrov T, Yong KJ, Tatetsu H, Jeong HW, Luo HR, Bradner JE, Tenen DG, Chai L", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "23287862", "url": "https://glygen.org/publication/PubMed/23287862" } ] }, { "title": "Mutual regulation between DNA-PKcs and Snail1 leads to increased genomic instability and aggressive tumor characteristics.", "journal": "Cell death & disease", "date": "2013", "authors": "Pyun BJ, Seo HR, Lee HJ, Jin YB, Kim EJ, Kim NH, Kim HS, Nam HW, Yook JI, Lee YS", "evidence": [ { "database": "iPTMnet", "id": "O95863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95863" } ], "reference": [ { "type": "PubMed", "id": "23449453", "url": "https://glygen.org/publication/PubMed/23449453" } ] }, { "title": "Protein recognition by short peptide reversible inhibitors of the chromatin-modifying LSD1/CoREST lysine demethylase.", "journal": "ACS chemical biology", "date": "2013", "authors": "Tortorici M, Borrello MT, Tardugno M, Chiarelli LR, Pilotto S, Ciossani G, Vellore NA, Bailey SG, Cowan J, O'Connell M, Crabb SJ, Packham G, Mai A, Baron R, Ganesan A, Mattevi A", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "reference": [ { "type": "PubMed", "id": "23721412", "url": "https://glygen.org/publication/PubMed/23721412" } ] }, { "title": "ATM-mediated Snail Serine 100 phosphorylation regulates cellular radiosensitivity.", "journal": "Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology", "date": "2013", "authors": "Boohaker RJ, Cui X, Stackhouse M, Xu B", "evidence": [ { "database": "iPTMnet", "id": "O95863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95863" } ], "reference": [ { "type": "PubMed", "id": "23891091", "url": "https://glygen.org/publication/PubMed/23891091" } ] }, { "title": "ZEB2-Sp1 cooperation induces invasion by upregulating cadherin-11 and integrin \u03b15 expression.", "journal": "Carcinogenesis", "date": "2014-02", "authors": "Nam Eun-Hee, Lee Yunhee, Zhao Xue-Feng, Park Young-Kyu, Lee Jung Weon, Kim Semi", "evidence": [ { "database": "Reactome", "id": "R-HSA-9762293", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9762293" } ], "reference": [ { "type": 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Section D, Biological crystallography", "date": "2014", "authors": "Choi S, Yamashita E, Yasuhara N, Song J, Son SY, Won YH, Hong HR, Shin YS, Sekimoto T, Park IY, Yoneda Y, Lee SJ", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "reference": [ { "type": "PubMed", "id": "24699649", "url": "https://glygen.org/publication/PubMed/24699649" } ] }, { "title": "The tumor suppressor PTEN interacts with p53 in hereditary cancer (Review).", "journal": "International journal of oncology", "date": "2014", "authors": "Nakanishi A, Kitagishi Y, Ogura Y, Matsuda S", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "24718924", "url": "https://glygen.org/publication/PubMed/24718924" } ] }, { "title": "HOXC8 promotes breast tumorigenesis by transcriptionally facilitating cadherin-11 expression.", "journal": "Oncotarget", "date": "2014-05-15", "authors": "Li Yong, Chao Fengmei, Huang Bei, Liu Dahai, Kim Jaejik, Huang Shuang", "evidence": [ { "database": "Reactome", "id": "R-HSA-9762293", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9762293" } ], "reference": [ { "type": "PubMed", "id": "24810778", "url": "https://glygen.org/publication/PubMed/24810778" } ] }, { "title": "PKD1 phosphorylation-dependent degradation of SNAIL by SCF-FBXO11 regulates epithelial-mesenchymal transition and metastasis.", "journal": "Cancer cell", "date": "2014", "authors": "Zheng H, Shen M, Zha YL, Li W, Wei Y, Blanco MA, Ren G, Zhou T, Storz P, Wang HY, Kang Y", "evidence": [ { "database": "iPTMnet", "id": "O95863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95863" } ], "reference": [ { "type": "PubMed", "id": "25203322", "url": "https://glygen.org/publication/PubMed/25203322" } ] }, { "title": "SLUG is a direct transcriptional repressor of PTEN tumor suppressor.", "journal": "The Prostate", "date": "2015", "authors": "Uygur B, Abramo K, Leikina E, Vary C, Liaw L, Wu WS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "25728608", "url": "https://glygen.org/publication/PubMed/25728608" } ] }, { "title": "Syntenin regulates TGF-beta1-induced Smad activation and the epithelial-to-mesenchymal transition by inhibiting caveolin-mediated TGF-beta type I receptor internalization.", "journal": "Oncogene", "date": "2016", "authors": "Hwangbo C, Tae N, Lee S, Kim O, Park OK, Kim J, Kwon SH, Lee JH", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "reference": [ { "type": "PubMed", "id": "25893292", "url": "https://glygen.org/publication/PubMed/25893292" } ] }, { "title": "Wnt5a attenuates the pathogenic effects of the Wnt/beta-catenin pathway in human retinal pigment epithelial cells via down-regulating beta-catenin and Snail.", "journal": "BMB reports", "date": "2015", "authors": "Kim JH, Park S, Chung H, Oh S", "evidence": [ { "database": "iPTMnet", "id": "O95863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95863" } ], "reference": [ { "type": "PubMed", "id": "26246285", "url": "https://glygen.org/publication/PubMed/26246285" } ] }, { "title": "MAF1 suppresses AKT-mTOR signaling and liver cancer through activation of PTEN transcription.", "journal": "Hepatology (Baltimore, Md.)", "date": "2016", "authors": "Li Y, Tsang CK, Wang S, Li XX, Yang Y, Fu L, Huang W, Li M, Wang HY, Zheng XF", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "26910647", "url": "https://glygen.org/publication/PubMed/26910647" } ] }, { "title": "Epithelial-mesenchymal transition induced by GRO-alpha-CXCR2 promotes bladder cancer recurrence after intravesical chemotherapy.", "journal": "Oncotarget", "date": "2017", "authors": "Chen L, Pan XW, Huang H, Gao Y, Yang QW, Wang LH, Cui XG, Xu DF", "evidence": [ { "database": "iPTMnet", "id": "O95863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95863" } ], "reference": [ { "type": "PubMed", "id": "28423359", "url": "https://glygen.org/publication/PubMed/28423359" } ] }, { "title": "Pro-invasive properties of Snail1 are regulated by sumoylation in response to TGFbeta stimulation in cancer.", "journal": "Oncotarget", "date": "2017", "authors": "Gudey SK, Sundar R, Heldin CH, Bergh A, Landstrom M", "evidence": [ { "database": "Entrez", "id": "6615", "url": "https://www.ncbi.nlm.nih.gov/gene/6615" } ], "reference": [ { "type": "PubMed", "id": "29228645", "url": "https://glygen.org/publication/PubMed/29228645" } ] }, { "title": "TGF-beta1 up-regulates cadherin-11 expression through Snail: A potential mechanism for human trophoblast cell differentiation.", "journal": 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}, { "name": "epithelial to mesenchymal transition involved in endocardial cushion formation", "id": "GO:0003198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003198", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "pmid": "" }, { "name": "aortic valve morphogenesis", "id": "GO:0003180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003180", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "pmid": "" }, { "name": "regulation of bicellular tight junction assembly", "id": "GO:2000810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000810", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "pmid": "" }, { "name": "heterochromatin organization", "id": "GO:0070828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070828", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "pmid": "" }, { "name": "pericentric heterochromatin", "id": "GO:0005721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005721", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "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": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": 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Once phosphorylated, it becomes a target for BTRC ubiquitination. Phosphorylation by CSNK1E, probably at Ser-104, provides the priming site for the subsequent phosphorylation by GSK3B, probably at Ser-100 and Ser-96. Phosphorylation by PAK1 may modulate its transcriptional activity by promoting increased accumulation in the nucleus. Phosphorylation at Ser-11 and Ser-92 positively regulates its functions in induction of EMT and cell survival, respectively. Phosphorylation by LATS2, upon mitotic stress, oncogenic stress or Hippo pathway activation, occurs in the nucleus and promotes nuclear retention and stabilization of total cellular protein level (PubMed:24157836).", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "20305697", "url": "https://glygen.org/publication/PubMed/20305697" }, { "database": "PubMed", "id": "15647282", "url": "https://glygen.org/publication/PubMed/15647282" }, { "database": "PubMed", "id": "19923321", "url": "https://glygen.org/publication/PubMed/19923321" }, { "database": "PubMed", "id": "15448698", "url": "https://glygen.org/publication/PubMed/15448698" }, { "database": "PubMed", "id": "24157836", "url": "https://glygen.org/publication/PubMed/24157836" } ] }, { "annotation": "Ubiquitinated on Lys-98, Lys-137 and Lys-146 by FBXL14 and BTRC leading to degradation (PubMed:19955572). BTRC-triggered ubiquitination requires previous GSK3B-mediated SNAI1 phosphorylation. Ubiquitination induced upon interaction with NOTCH1 or TP53/p53 is mediated by MDM2 (PubMed:20385133). Ubiquitinated in a FBXL5-dependent manner; preventing interaction with DNA and promoting its degradation (PubMed:24157836). Deubiquitinated by USP37; leading to stabilization (PubMed:31911859).", "evidence": [ { "database": "UniProtKB", "id": "O95863", "url": "https://www.uniprot.org/uniprot/O95863" }, { "database": "PubMed", "id": "20385133", "url": "https://glygen.org/publication/PubMed/20385133" }, { "database": "PubMed", "id": "19955572", "url": "https://glygen.org/publication/PubMed/19955572" }, { "database": "PubMed", "id": "24157836", "url": "https://glygen.org/publication/PubMed/24157836" }, { "database": "PubMed", "id": "31911859", "url": "https://glygen.org/publication/PubMed/31911859" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 112 ], "snv_sites": [ 52 ], "glycation_sites": [], "phosphorylation_sites": [ 11, 82, 92, 96, 100, 104, 107, 111, 115, 119, 203, 246, 249 ], "sequon_annotation_sites": [ { "start_pos": 18, "end_pos": 20 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "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": 1 }, { "field": "total_sites", "count": 1 }, { "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": 1 } ], "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_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "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": 29 }, { "field": "total_sites", "count": 13 } ], "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": 1 }, { "field": "total_sites", "count": 1 } ], "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": 1 }, { "field": "total_sites", "count": 1 } ], "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 82 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }