{ "uniprot_canonical_ac": "O75925-1", "uniprot_ac": "O75925", "uniprot_id": "PIAS1_HUMAN", "mass": { "chemical_mass": 71836.0, "monoisotopic_mass": 71836.0 }, "refseq": { "ac": "NP_001307616", "name": "E3 SUMO-protein ligase PIAS1 isoform 1", "summary": "This gene encodes a member of the protein inhibitor of activated STAT (PIAS) family. PIAS proteins function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. This protein plays a central role as a transcriptional coregulator of numerous cellular pathways includign the STAT1 and nuclear factor kappaB pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307616" }, "gene_names": [ { "name": "PIAS1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75925", "id": "O75925" }, { "name": "DDXBP1; GBP; GU/RH-II; ZMIZ3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307616", "id": "NP_001307616" }, { "name": "DDXBP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75925", "id": "O75925" }, { "name": "PIAS1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307616", "id": "NP_001307616" } ], "protein_names": [ { "name": "E3 SUMO-protein ligase PIAS1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75925" }, { "name": "2.3.2.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75925" }, { "name": "AR interacting protein; zinc finger, MIZ-type containing 3; DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1; E3 SUMO-protein ligase PIAS1; gu-binding protein; RNA helicase II-binding protein; DEAD/H box-binding protein 1; protein inhibitor of activated STAT protein 1; E3 SUMO-protein transferase PIAS1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307616", "id": "NP_001307616" }, { "name": "DEAD/H box-binding protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75925" }, { "name": "E3 SUMO-protein ligase PIAS1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307616", "id": "NP_001307616" }, { "name": "E3 SUMO-protein transferase PIAS1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75925" }, { "name": "GBP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75925" }, { "name": "Gu-binding protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75925" }, { "name": "Protein inhibitor of activated STAT protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75925" }, { "name": "RNA helicase II-binding protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75925" } ], "function": [ { "annotation": "(Microbial infection) Restricts Epstein-Barr virus (EBV) lytic replication by acting as an inhibitor for transcription factors involved in lytic gene expression (PubMed:29262325). The virus can use apoptotic caspases to antagonize PIAS1-mediated restriction and express its lytic genes (PubMed:29262325).", "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925#function" }, { "database": "PubMed", "id": "29262325", "url": "https://glygen.org/publication/PubMed/29262325" } ] }, { "annotation": "Crosstalk between SUMOylation and ubiquitylation controls DNA end resection by maintaining MRE11 homeostasis on chromatin. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001307616", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307616" }, { "database": "PubMed", "id": "36050397", "url": "https://glygen.org/publication/PubMed/36050397" } ] }, { "annotation": "Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor. Plays a crucial role as a transcriptional coregulation in various cellular pathways, including the STAT pathway, the p53 pathway and the steroid hormone signaling pathway. In vitro, binds A/T-rich DNA. The effects of this transcriptional coregulation, transactivation or silencing, may vary depending upon the biological context. Sumoylates PML (at'Lys-65' and 'Lys-160') and PML-RAR and promotes their ubiquitin-mediated degradation. PIAS1-mediated sumoylation of PML promotes its interaction with CSNK2A1/CK2 which in turn promotes PML phosphorylation and degradation (By similarity). Enhances the sumoylation of MTA1 and may participate in its paralog-selective sumoylation. Plays a dynamic role in adipogenesis by promoting the SUMOylation and degradation of CEBPB (By similarity). Mediates the nuclear mobility and localization of MSX1 to the nuclear periphery, whereby MSX1 is brought into the proximity of target myoblast differentiation factor genes (By similarity). Also required for the binding of MSX1 to the core enhancer region in target gene promoter regions, independent of its sumolyation activity (By similarity). Capable of binding to the core enhancer region TAAT box in the MYOD1 gene promoter (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925#function" }, { "database": "UniProtKB", "id": "O88907", "url": "https://www.uniprot.org/uniprot/O88907#function" }, { "database": "PubMed", "id": "14500712", "url": "https://glygen.org/publication/PubMed/14500712" }, { "database": "PubMed", "id": "21965678", "url": "https://glygen.org/publication/PubMed/21965678" } ] }, { "annotation": "PIAS1 is a SUMO ligase for GATA4 that differentially regulates GATA4 transcriptional activity independent of SUMO ligase activity and GATA4 sumoylation.", "evidence": [ { "database": "RefSeq", "id": "NP_001307616", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307616" }, { "database": "PubMed", "id": "22539995", "url": "https://glygen.org/publication/PubMed/22539995" } ] }, { "annotation": "Roles of the SUMO-related enzymes, PIAS1, PIAS4, and RNF4, in DNA double-strand break repair by homologous recombination.", "evidence": [ { "database": "RefSeq", "id": "NP_001307616", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307616" }, { "database": "PubMed", "id": "35007836", "url": "https://glygen.org/publication/PubMed/35007836" } ] }, { "annotation": "SUMOylation and coupling of eNOS mediated by PIAS1 contribute to maintenance of vascular homeostasis.", "evidence": [ { "database": "RefSeq", "id": "NP_001307616", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307616" }, { "database": "PubMed", "id": "38102979", "url": "https://glygen.org/publication/PubMed/38102979" } ] }, { "annotation": "SUMOylation of SMAD4 by PIAS1 in Conjunction with Vimentin Upregulation Promotes Migration Potential in Non-Small Cell Lung Cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001307616", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307616" }, { "database": "PubMed", "id": "37664931", "url": "https://glygen.org/publication/PubMed/37664931" } ] }, { "annotation": "This gene encodes a member of the protein inhibitor of activated STAT (PIAS) family. PIAS proteins function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. This protein plays a central role as a transcriptional coregulator of numerous cellular pathways includign the STAT1 and nuclear factor kappaB pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001307616", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307616" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O75925", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75925" } ], "glycoeffect": [], "start_pos": 245, "end_pos": 245, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "68146606", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R245", "disease": [ { "disease_id": "DOID:1115", "recommended_name": { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm." }, "synonyms": [ { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "connective and soft tissue neoplasm", "description": "" }, { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "tumor of soft tissue and skeleton", "description": "" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 100, "end_pos": 100, "sequence_org": "D", "sequence_mut": "A", "comment": "Completely blocks cleavage by caspase-3, -6, and -8 and dramatic suppression of EBVDNA replication; when associated with A-433.", "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925" }, { "database": "PubMed", "id": "29262325", "url": "https://glygen.org/publication/PubMed/29262325" } ] }, { "start_pos": 148, "end_pos": 148, "sequence_org": "D", "sequence_mut": "A", "comment": "No effect on cleavages by caspase-6 and -8.", "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925" }, { "database": "PubMed", "id": "29262325", "url": "https://glygen.org/publication/PubMed/29262325" } ] }, { "start_pos": 351, "end_pos": 351, "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of UBE2I-binding; almost complete loss of promotion of TP53 sumoylation; no loss of SUMO1- and TP53-binding.", "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925" }, { "database": "PubMed", "id": "11583632", "url": "https://glygen.org/publication/PubMed/11583632" } ] }, { "start_pos": 351, "end_pos": 351, "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of UBE2I-binding; almost complete loss of promotion of TP53 sumoylation; no loss of SUMO1- and TP53-binding.", "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925" }, { "database": "PubMed", "id": "11583632", "url": "https://glygen.org/publication/PubMed/11583632" } ] }, { "start_pos": 433, "end_pos": 433, "sequence_org": "D", "sequence_mut": "A", "comment": "Completely blocks cleavage by caspase-3, -6, and -8 and dramatic suppression of EBVDNA replication; when associated with A-100.", "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925" }, { "database": "PubMed", "id": "29262325", "url": "https://glygen.org/publication/PubMed/29262325" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "83.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000033800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033800" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "89.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000033800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033800" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "87.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000033800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033800" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "79.35", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000033800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033800" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "92.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000033800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033800" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "89.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000033800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033800" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "76.14", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000033800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033800" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000033800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033800" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "88.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000033800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033800" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "84.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000033800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033800" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "89.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000033800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033800" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "89.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000033800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033800" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "86.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000033800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033800" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75925", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75925" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial 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"https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75925", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75925" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder 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cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": 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}, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75925", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75925" } ], "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://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925" } ], "common_name": "Human" } ], "gene": [ { "name": "PIAS1", "url": "https://www.uniprot.org/uniprot/O75925", "locus": { "chromosome": "15", "start_pos": 68198603, "end_pos": 68054309, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000033800", "url": "https://www.ensembl.org/id/ENSG00000033800" } ] } } ], "crossref": [ { "id": "ENSG00000033800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033800", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O75925", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75925", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd16818", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd16818", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "PIAS1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIAS1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "8554", "url": "https://www.ncbi.nlm.nih.gov/gene/8554", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "2752", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2752", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75925", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75925*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR003034", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003034", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR004181", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004181", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013083", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013083", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023321", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023321", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036361", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036361", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR038654", "url": "https://www.ebi.ac.uk/interpro/entry/IPR038654", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:8554", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8554", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603566", "url": "http://www.omim.org/entry/603566", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75925", "url": "https://www.nextprot.org/entry/NX_O75925", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O75925", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75925", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "LRIVTPC", "url": "https://omabrowser.org/oma/group/LRIVTPC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "20246at2759", "url": "http://www.orthodb.org/?query=20246at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10782", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10782", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10782:SF11", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10782:SF11", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1V66", "url": "https://www.rcsb.org/structure/1V66", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF02891", "url": "http://pfam.xfam.org/family/PF02891", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF14324", "url": "http://pfam.xfam.org/family/PF14324", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75925", "url": "https://pharos.nih.gov/targets/O75925", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75925", "url": "http://purl.obolibrary.org/obo/PR_O75925", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-3108214", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3108214", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3232118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3232118", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3232142", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3232142", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3899300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3899300", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-4551638", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4551638", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5696395", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696395", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-877312", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877312", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001307616", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307616", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "H3BS65", "url": "https://www.uniprot.org/uniprot/H3BS65", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BS65-1", "url": "https://www.uniprot.org/uniprot/H3BS65-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BSI8", "url": "https://www.uniprot.org/uniprot/H3BSI8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BSI8-1", "url": "https://www.uniprot.org/uniprot/H3BSI8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BUL7", "url": "https://www.uniprot.org/uniprot/H3BUL7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BUL7-1", "url": "https://www.uniprot.org/uniprot/H3BUL7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75925-1", "url": "https://www.uniprot.org/uniprot/O75925-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75925-2", "url": "https://www.uniprot.org/uniprot/O75925-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75925-3", "url": "https://www.uniprot.org/uniprot/O75925-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MADSAELKQMVMSLRVSELQVLLGYAGRNKHGRKHELLTKALHLLKAGCSPAVQMKIKELYRRRFPQKIMTPADLSIPNVHSSPMPATLSPSTIPQLTYDGHPASSPLLPVSLLGPKHELELPHLTSALHPVHPDIKLQKLPFYDLLDELIKPTSLASDNSQRFRETCFAFALTPQQVQQISSSMDISGTKCDFTVQVQLRFCLSETSCPQEDHFPPNLCVKVNTKPCSLPGYLPPTKNGVEPKRPSRPINITSLVRLSTTVPNTIVVSWTAEIGRNYSMAVYLVKQLSSTVLLQRLRAKGIRNPDHSRALIKEKLTADPDSEIATTSLRVSLLCPLGKMRLTIPCRALTCSHLQCFDATLYIQMNEKKPTWVCPVCDKKAPYEHLIIDGLFMEILKYCTDCDEIQFKEDGTWAPMRSKKEVQEVSASYNGVDGCLSSTLEHQVASHHQSSNKNKKVEVIDLTIDSSSDEEEEEPSAKRTCPSLSPTSPLNNKGILSLPHQASPVSRTPSLPAVDTSYINTSLIQDYRHPFHMTPMPYDLQGLDFFPFLSGDNQHYNTSLLAAAAAAVSDDQDLLHSSRFFPYTSSQMFLDQLSAGGSTSLPTTNGSSSGSNSSLVSSNSLRESHSHTVTNRSSTDTASIFGIIPDIISLD", "length": 651, "header": "sp|O75925-1|PIAS1_HUMAN Isoform 1 of E3 SUMO-protein ligase PIAS1 OS=Homo sapiens OX=9606 GN=PIAS1 PE=1 SV=2 CANONICAL=O75925-1" }, "isoforms": [ { "isoform_ac": "H3BS65-1", "url": "", "sequence": { "sequence": "XILSLPHQASPVSRTPSLPAVDTSYINTSLIQDYRHPFHMTPMPYDLQALQHLLACRCSSSSFR", "length": 64, "header": "tr|H3BS65-1|H3BS65_HUMAN Computationally mapped isoform of Protein inhibitor of activated STAT 1 OS=Homo sapiens OX=9606 GN=PIAS1 PE=1 SV=1 CANONICAL=O75925-1" }, "locus": { "chromosome": "15", "start_pos": 68187589, "end_pos": 68181211, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000563996.1", "url": "https://www.ensembl.org/id/ENST00000563996.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000456558.1", "url": "https://www.ensembl.org/id/ENSP00000456558.1" } ] } }, { "isoform_ac": "H3BSI8-1", "url": "", "sequence": { "sequence": "MADSAELKQMVMSLRVSELQVLLGYAGRNKHGRKHELLTKALHLLKAGCSPAVQMKIKELYRRRFPQKIMTPADLSIPNVHSSPMPATLSPSTIPQLTYDGHPASSPLLPVSLLGPKHELELPHLTSALHPVHPDIKLQKLPFYDLLDELIKPTSLAEII", "length": 160, "header": "tr|H3BSI8-1|H3BSI8_HUMAN Computationally mapped isoform of Protein inhibitor of activated STAT 1 OS=Homo sapiens OX=9606 GN=PIAS1 PE=1 SV=1 CANONICAL=O75925-1" }, "locus": { "chromosome": "15", "start_pos": 68087852, "end_pos": 68054327, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000564915.5", "url": "https://www.ensembl.org/id/ENST00000564915.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456721.1", "url": "https://www.ensembl.org/id/ENSP00000456721.1" } ] } }, { "isoform_ac": "H3BUL7-1", "url": "", "sequence": { "sequence": "MADSAELKEEEWERRSPSAF", "length": 20, "header": "tr|H3BUL7-1|PIAS1_HUMAN Computationally mapped isoform of E3 SUMO-protein ligase PIAS1 OS=Homo sapiens OX=9606 GN=PIAS1 PE=1 SV=1 CANONICAL=O75925-1" }, "locus": { "chromosome": "15", "start_pos": 68057515, "end_pos": 68054327, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000562190.1", "url": "https://www.ensembl.org/id/ENST00000562190.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000457698.1", "url": "https://www.ensembl.org/id/ENSP00000457698.1" } ] } }, { "isoform_ac": "O75925-1", "url": "", "sequence": { "sequence": "MADSAELKQMVMSLRVSELQVLLGYAGRNKHGRKHELLTKALHLLKAGCSPAVQMKIKELYRRRFPQKIMTPADLSIPNVHSSPMPATLSPSTIPQLTYDGHPASSPLLPVSLLGPKHELELPHLTSALHPVHPDIKLQKLPFYDLLDELIKPTSLASDNSQRFRETCFAFALTPQQVQQISSSMDISGTKCDFTVQVQLRFCLSETSCPQEDHFPPNLCVKVNTKPCSLPGYLPPTKNGVEPKRPSRPINITSLVRLSTTVPNTIVVSWTAEIGRNYSMAVYLVKQLSSTVLLQRLRAKGIRNPDHSRALIKEKLTADPDSEIATTSLRVSLLCPLGKMRLTIPCRALTCSHLQCFDATLYIQMNEKKPTWVCPVCDKKAPYEHLIIDGLFMEILKYCTDCDEIQFKEDGTWAPMRSKKEVQEVSASYNGVDGCLSSTLEHQVASHHQSSNKNKKVEVIDLTIDSSSDEEEEEPSAKRTCPSLSPTSPLNNKGILSLPHQASPVSRTPSLPAVDTSYINTSLIQDYRHPFHMTPMPYDLQGLDFFPFLSGDNQHYNTSLLAAAAAAVSDDQDLLHSSRFFPYTSSQMFLDQLSAGGSTSLPTTNGSSSGSNSSLVSSNSLRESHSHTVTNRSSTDTASIFGIIPDIISLD", "length": 651, "header": "sp|O75925-1|PIAS1_HUMAN Isoform 1 of E3 SUMO-protein ligase PIAS1 OS=Homo sapiens OX=9606 GN=PIAS1 PE=1 SV=2 CANONICAL=O75925-1" }, "locus": { "chromosome": "15", "start_pos": 68187832, "end_pos": 68054327, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000249636.11", "url": "https://www.ensembl.org/id/ENST00000249636.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000249636.6", "url": "https://www.ensembl.org/id/ENSP00000249636.6" } ] } }, { "isoform_ac": "O75925-2", "url": "", "sequence": { "sequence": "MFTLQDSYVKQMVMSLRVSELQVLLGYAGRNKHGRKHELLTKALHLLKAGCSPAVQMKIKELYRRRFPQKIMTPADLSIPNVHSSPMPATLSPSTIPQLTYDGHPASSPLLPVSLLGPKHELELPHLTSALHPVHPDIKLQKLPFYDLLDELIKPTSLASDNSQRFRETCFAFALTPQQVQQISSSMDISGTKCDFTVQVQLRFCLSETSCPQEDHFPPNLCVKVNTKPCSLPGYLPPTKNGVEPKRPSRPINITSLVRLSTTVPNTIVVSWTAEIGRNYSMAVYLVKQLSSTVLLQRLRAKGIRNPDHSRALIKEKLTADPDSEIATTSLRVSLLCPLGKMRLTIPCRALTCSHLQCFDATLYIQMNEKKPTWVCPVCDKKAPYEHLIIDGLFMEILKYCTDCDEIQFKEDGTWAPMRSKKEVQEVSASYNGVDGCLSSTLEHQVASHHQSSNKNKKVEVIDLTIDSSSDEEEEEPSAKRTCPSLSPTSPLNNKGILSLPHQASPVSRTPSLPAVDTSYINTSLIQDYRHPFHMTPMPYDLQGLDFFPFLSGDNQHYNTSLLAAAAAAVSDDQDLLHSSRFFPYTSSQMFLDQLSAGGSTSLPTTNGSSSGSNSSLVSSNSLRESHSHTVTNRSSTDTASIFGIIPDIISLD", "length": 653, "header": "sp|O75925-2|PIAS1_HUMAN Isoform 2 of E3 SUMO-protein ligase PIAS1 OS=Homo sapiens OX=9606 GN=PIAS1 PE=1 SV=2 CANONICAL=O75925-1" }, "locus": { "chromosome": "15", "start_pos": 68187832, "end_pos": 68055884, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000545237.1", "url": "https://www.ensembl.org/id/ENST00000545237.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000438574.1", "url": "https://www.ensembl.org/id/ENSP00000438574.1" } ] } }, { "isoform_ac": "O75925-3", "url": "", "sequence": { "sequence": "MADSAELKQMVMSLRVSELQVLLGYAGRNKHGRKHELLTKALHLLKAGCSPAVQMKIKELYRRRFPQKIMTPADLSIPNVHSSPMPATLSPSTIPQLTYDGHPASSPLLPVSLLGPKHELELPHLTSALHPVHPDIKLQKLPFYDLLDELIKPTSLASDNSQRFRETCFAFALTPQQVQQISSSMDISGTKCDFTVQVQLRFCLSETSCPQEDHFPPNLCVKVNTKPCSLPGYLPPTKNGVEPKRPSRPINITSLVRLSTTVPNTIVVSWTAEIGRNYSMAVYLVKQLSSTVLLQRLRAKGIRNPDHSRALSTYDKLISLIQLFC", "length": 325, "header": "sp|O75925-3|PIAS1_HUMAN Isoform 3 of E3 SUMO-protein ligase PIAS1 OS=Homo sapiens OX=9606 GN=PIAS1 PE=1 SV=2 CANONICAL=O75925-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O75925", "database": 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J.", "date": "2001", "authors": "Weiskirchen R, Moser M, Weiskirchen S, Erdel M, Dahmen S, Buettner R, Gressner AM", "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925" } ], "reference": [ { "type": "PubMed", "id": "11672422", "url": "https://glygen.org/publication/PubMed/11672422" } ] }, { "title": "The nucleoporin RanBP2 has SUMO1 E3 ligase activity.", "journal": "Cell", "date": "2002", "authors": "Pichler A, Gast A, Seeler JS, Dejean A, Melchior F", "evidence": [ { "database": "Reactome", "id": "R-HSA-3108214", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3108214" } ], "reference": [ { "type": "PubMed", "id": "11792325", "url": "https://glygen.org/publication/PubMed/11792325" } ] }, { "title": "The insulin-sensitive glucose transporter, GLUT4, interacts physically with Daxx. 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"Molecular endocrinology (Baltimore, Md.)", "date": "2005", "authors": "Sentis S, Le Romancer M, Bianchin C, Rostan MC, Corbo L", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "15961505", "url": "https://glygen.org/publication/PubMed/15961505" } ] }, { "title": "Proper SUMO-1 conjugation is essential to DJ-1 to exert its full activities.", "journal": "Cell death and differentiation", "date": "2006", "authors": "Shinbo Y, Niki T, Taira T, Ooe H, Takahashi-Niki K, Maita C, Seino C, Iguchi-Ariga SM, Ariga H", "evidence": [ { "database": "Reactome", "id": "R-HSA-3899300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3899300" } ], "reference": [ { "type": "PubMed", "id": "15976810", "url": "https://glygen.org/publication/PubMed/15976810" } ] }, { "title": "DNA repair factor XPC is modified by SUMO-1 and ubiquitin following UV irradiation.", "journal": "Nucleic acids research", "date": "2005", "authors": "Wang QE, Zhu Q, Wani G, El-Mahdy MA, Li J, Wani AA", "evidence": [ { "database": "Reactome", "id": "R-HSA-3108214", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3108214" } ], "reference": [ { "type": "PubMed", "id": "16030353", "url": "https://glygen.org/publication/PubMed/16030353" } ] }, { "title": "Transcriptional activity of megakaryoblastic leukemia 1 (MKL1) is repressed by SUMO modification.", "journal": "Genes to cells : devoted to molecular & cellular mechanisms", "date": "2005", "authors": "Nakagawa K, Kuzumaki N", "evidence": [ { "database": "Reactome", "id": "R-HSA-3899300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3899300" } ], "reference": [ { "type": "PubMed", "id": "16098147", "url": "https://glygen.org/publication/PubMed/16098147" } ] }, { "title": "SUMO modification of human XRCC4 regulates its localization and function in DNA double-strand break repair.", "journal": "Molecular and cellular 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required for its transcriptional activity and is modulated by the KRAB domain.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Mascle XH, Germain-Desprez D, Huynh P, Estephan P, Aubry M", "evidence": [ { "database": "Reactome", "id": "R-HSA-3899300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3899300" } ], "reference": [ { "type": "PubMed", "id": "17298944", "url": "https://glygen.org/publication/PubMed/17298944" } ] }, { "title": "Sumoylation and proteasomal activity determine the transactivation properties of the mineralocorticoid receptor.", "journal": "Molecular and cellular endocrinology", "date": "2007", "authors": "Tirard M, Almeida OF, Hutzler P, Melchior F, Michaelidis TM", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "17314004", "url": "https://glygen.org/publication/PubMed/17314004" } ] }, { "title": "SUMO 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{ "title": "Structural insights into human KAP1 PHD finger-bromodomain and its role in gene silencing.", "journal": "Nature structural & molecular biology", "date": "2008", "authors": "Zeng L, Yap KL, Ivanov AV, Wang X, Mujtaba S, Plotnikova O, Rauscher FJ 3rd, Zhou MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-3899300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3899300" } ], "reference": [ { "type": "PubMed", "id": "18488044", "url": "https://glygen.org/publication/PubMed/18488044" } ] }, { "title": "Nucleotide excision repair driven by the dissociation of CAK from TFIIH.", "journal": "Molecular cell", "date": "2008", "authors": "Coin F, Oksenych V, Mocquet V, Groh S, Blattner C, Egly JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5696395", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696395" } ], "reference": [ { "type": "PubMed", "id": "18614043", "url": "https://glygen.org/publication/PubMed/18614043" } ] }, { "title": "SUMO-modified 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SH, Sharrocks AD, Wotton D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3899300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3899300" } ], "reference": [ { "type": "PubMed", "id": "20098713", "url": "https://glygen.org/publication/PubMed/20098713" } ] }, { "title": "GPS2-dependent corepressor/SUMO pathways govern anti-inflammatory actions of LRH-1 and LXRbeta in the hepatic acute phase response.", "journal": "Genes & development", "date": "2010", "authors": "Venteclef N, Jakobsson T, Ehrlund A, Damdimopoulos A, Mikkonen L, Ellis E, Nilsson LM, Parini P, Janne OA, Gustafsson JA, Steffensen KR, Treuter E", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "20159957", "url": "https://glygen.org/publication/PubMed/20159957" } ] }, { "title": "The SUMO E3 ligase activity of Pc2 is coordinated through a SUMO interaction motif.", "journal": "Molecular and cellular biology", "date": "2010", "authors": "Yang SH, Sharrocks AD", "evidence": [ { "database": "Reactome", "id": "R-HSA-3899300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3899300" } ], "reference": [ { "type": "PubMed", "id": "20176810", "url": "https://glygen.org/publication/PubMed/20176810" } ] }, { "title": "The putative nuclear localization signal of the human RAD52 protein is a potential sumoylation site.", "journal": "Journal of biochemistry", "date": "2010", "authors": "Saito K, Kagawa W, Suzuki T, Suzuki H, Yokoyama S, Saitoh H, Tashiro S, Dohmae N, Kurumizaka H", "evidence": [ { "database": "Reactome", "id": "R-HSA-3108214", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3108214" } ], "reference": [ { "type": "PubMed", "id": "20190268", "url": "https://glygen.org/publication/PubMed/20190268" } ] }, { "title": "The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity.", "journal": "PloS one", "date": "2010", "authors": "Marongiu M, Deiana M, Meloni A, Marcia L, Puddu A, Cao A, Schlessinger D, Crisponi L", "evidence": [ { "database": "Reactome", "id": "R-HSA-3232118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3232118" } ], "reference": [ { "type": "PubMed", "id": "20209145", "url": "https://glygen.org/publication/PubMed/20209145" } ] }, { "title": "Hypoxia inactivates the VHL tumor suppressor through PIASy-mediated SUMO modification.", "journal": "PloS one", "date": "2010", "authors": "Cai Q, Verma SC, Kumar P, Ma M, Robertson ES", "evidence": [ { "database": "Reactome", "id": "R-HSA-3232142", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3232142" } ], "reference": [ { "type": "PubMed", "id": "20300531", "url": "https://glygen.org/publication/PubMed/20300531" } ] }, { "title": "Phosphorylation-dependent interaction of SATB1 and PIAS1 directs SUMO-regulated caspase cleavage of SATB1.", "journal": "Molecular and cellular biology", "date": "2010", "authors": "Tan JA, Song J, Chen Y, Durrin LK", "evidence": [ { "database": "Reactome", "id": "R-HSA-4551638", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4551638" } ], "reference": [ { "type": "PubMed", "id": "20351170", "url": "https://glygen.org/publication/PubMed/20351170" } ] }, { "title": "DDB2 complex-mediated ubiquitylation around DNA damage is oppositely regulated by XPC and Ku and contributes to the recruitment of XPA.", "journal": "Molecular and cellular biology", "date": "2010", "authors": "Takedachi A, Saijo M, Tanaka K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5696395", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696395" } ], "reference": [ { "type": "PubMed", "id": "20368362", "url": "https://glygen.org/publication/PubMed/20368362" } ] }, { "title": "SUMO-specific protease 2 is essential for suppression of polycomb group protein-mediated gene silencing during embryonic development.", "journal": "Molecular cell", "date": "2010", "authors": "Kang X, Qi Y, Zuo Y, Wang Q, Zou Y, Schwartz RJ, Cheng J, Yeh ET", "evidence": [ { "database": "Reactome", "id": "R-HSA-4551638", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4551638" } ], "reference": [ { "type": "PubMed", "id": "20417598", "url": "https://glygen.org/publication/PubMed/20417598" } ] }, { "title": "Differential regulation of HIC1 target genes by CtBP and NuRD, via an acetylation/SUMOylation switch, in quiescent versus proliferating cells.", "journal": "Molecular and cellular biology", "date": "2010", "authors": "Van Rechem C, Boulay G, Pinte S, Stankovic-Valentin N, Guerardel C, Leprince D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3232118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3232118" } ], "reference": [ { "type": "PubMed", "id": "20547755", "url": "https://glygen.org/publication/PubMed/20547755" } ] }, { "title": "Sumoylation of ING2 regulates the transcription mediated by Sin3A.", "journal": "Oncogene", "date": "2010", "authors": "Ythier D, Larrieu D, Binet R, Binda O, Brambilla C, Gazzeri S, Pedeux R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3899300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3899300" } ], "reference": [ { "type": "PubMed", "id": "20676127", "url": "https://glygen.org/publication/PubMed/20676127" } ] }, { "title": "Regulation of DNA repair through deSUMOylation and SUMOylation of replication protein A complex.", "journal": "Molecular cell", "date": "2010", "authors": "Dou H, Huang C, Singh M, Carpenter PB, Yeh ET", "evidence": [ { "database": "Reactome", "id": "R-HSA-3108214", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3108214" } ], "reference": [ { "type": "PubMed", "id": "20705237", "url": "https://glygen.org/publication/PubMed/20705237" } ] }, { "title": "Pregnane X receptor is SUMOylated to repress the inflammatory response.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2010", "authors": "Hu G, Xu C, Staudinger JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "20719936", "url": "https://glygen.org/publication/PubMed/20719936" } ] }, { "title": "Ubiquitin/SUMO modification regulates VHL protein stability and nucleocytoplasmic localization.", "journal": "PloS one", "date": "2010", "authors": "Cai Q, Robertson ES", "evidence": [ { "database": "Reactome", "id": "R-HSA-3232142", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3232142" } ], "reference": [ { "type": "PubMed", "id": "20844582", "url": "https://glygen.org/publication/PubMed/20844582" } ] }, { "title": "Strand- and site-specific DNA lesion demarcation by the xeroderma pigmentosum group D helicase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Mathieu N, Kaczmarek N, Naegeli H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5696395", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696395" } ], "reference": [ { "type": "PubMed", "id": "20876134", "url": "https://glygen.org/publication/PubMed/20876134" } ] }, { "title": "SUMO E3 ligase activity of TRIM proteins.", "journal": "Oncogene", "date": "2011", "authors": "Chu Y, Yang X", "evidence": [ { "database": "Reactome", "id": "R-HSA-3232142", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3232142" } ], "reference": [ { "type": "PubMed", "id": "20972456", "url": "https://glygen.org/publication/PubMed/20972456" } ] }, { "title": "A novel proteomics approach to identify SUMOylated proteins and their modification sites in human cells.", "journal": "Molecular & cellular proteomics : MCP", "date": "2011", "authors": "Galisson F, Mahrouche L, Courcelles M, Bonneil E, Meloche S, Chelbi-Alix MK, Thibault P", "evidence": [ { "database": "Reactome", "id": "R-HSA-3108214", "url": 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antigen 1 (MTA1) synergistically regulate its transcriptional repressor function.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Cong L, Pakala SB, Ohshiro K, Li DQ, Kumar R", "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925" }, { "database": "Reactome", "id": "R-HSA-3232118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3232118" } ], "reference": [ { "type": "PubMed", "id": "21965678", "url": "https://glygen.org/publication/PubMed/21965678" } ] }, { "title": "SUMOylation of the Forkhead transcription factor FOXL2 promotes its stabilization/activation through transient recruitment to PML bodies.", "journal": "PloS one", "date": "2011", "authors": "Georges A, Benayoun BA, Marongiu M, Dipietromaria A, L'Hote D, Todeschini AL, Auer J, Crisponi L, Veitia RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-3232118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3232118" } ], 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General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75925", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75925" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Roles of the SUMO-related enzymes, PIAS1, PIAS4, and RNF4, in DNA double-strand break repair by homologous recombination.", "journal": "Biochemical and biophysical research communications", "date": "2022", "authors": "Han MM, Hirakawa M, Yamauchi M, Matsuda N", "evidence": [ { "database": "RefSeq", "id": "NP_001307616", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307616" } ], "reference": [ { "type": "PubMed", "id": "35007836", "url": "https://glygen.org/publication/PubMed/35007836" } ] }, { "title": "Crosstalk between SUMOylation and ubiquitylation controls DNA end resection by maintaining MRE11 homeostasis on chromatin.", "journal": "Nature communications", "date": "2022", "authors": "Zhang T, Yang H, Zhou Z, Bai Y, Wang J, Wang W", "evidence": [ { "database": "RefSeq", "id": "NP_001307616", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307616" } ], "reference": [ { "type": "PubMed", "id": "36050397", "url": "https://glygen.org/publication/PubMed/36050397" } ] }, { "title": "SUMOylation of SMAD4 by PIAS1 in Conjunction with Vimentin Upregulation Promotes Migration Potential in Non-Small Cell Lung Cancer.", "journal": "Frontiers in bioscience (Landmark edition)", "date": "2023-08-31", "authors": "Wu Chunli, Zhu Xiaoxiao, Dai Qi, Chu Zanbo, Yang Sijia, Dong Zhaoxing", "evidence": [ { "database": "RefSeq", "id": "NP_001307616", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307616" } ], "reference": [ { "type": "PubMed", "id": "37664931", "url": "https://glygen.org/publication/PubMed/37664931" } ] }, { "title": "SUMOylation and coupling of eNOS mediated by PIAS1 contribute to maintenance of vascular homeostasis.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2024-01", "authors": "Wang Li, Zeng Wenjing, Wang Chaowen, Lu Yanli, Xiong Xiaowei, Chen Sheng, Huang Qianqian, Yan Feixing, Huang Qiren", "evidence": [ { "database": "RefSeq", "id": "NP_001307616", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307616" } ], "reference": [ { "type": "PubMed", "id": "38102979", "url": "https://glygen.org/publication/PubMed/38102979" } ] }, { "title": "Purification and characterization of the XPF-ERCC1 complex of human DNA repair excision nuclease.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Park CH, Bessho T, Matsunaga T, Sancar A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5696395", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696395" } ], "reference": [ { "type": "PubMed", "id": "7559382", "url": "https://glygen.org/publication/PubMed/7559382" } ] }, { "title": "RPA involvement in the damage-recognition and incision steps of nucleotide excision repair.", "journal": "Nature", "date": "1995", "authors": "He Z, Henricksen LA, Wold MS, Ingles CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5696395", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696395" } ], "reference": [ { "type": "PubMed", "id": "7700386", "url": "https://glygen.org/publication/PubMed/7700386" } ] }, { "title": "Isolation and characterization of two human transcription factor IIH (TFIIH)-related complexes: ERCC2/CAK and TFIIH.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Reardon JT, Ge H, Gibbs E, Sancar A, Hurwitz J, Pan ZQ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5696395", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696395" } ], "reference": [ { "type": "PubMed", "id": "8692841", "url": "https://glygen.org/publication/PubMed/8692841" } ] }, { "title": "Substrate specificity of the cdk-activating kinase (CAK) is altered upon association with TFIIH.", "journal": "The EMBO journal", "date": "1997", "authors": "Rossignol M, Kolb-Cheynel I, Egly JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5696395", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696395" } ], "reference": [ { "type": "PubMed", "id": "9130708", "url": "https://glygen.org/publication/PubMed/9130708" } ] }, { "title": "Cloning and characterization of Gu/RH-II binding protein.", "journal": "Biochem. 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U.S.A.", "date": "1998", "authors": "Liu B, Liao J, Rao X, Kushner SA, Chung CD, Chang DD, Shuai K", "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925" } ], "reference": [ { "type": "PubMed", "id": "9724754", "url": "https://glygen.org/publication/PubMed/9724754" } ] }, { "title": "Identification of three major sentrinization sites in PML.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Kamitani T, Kito K, Nguyen HP, Wada H, Fukuda-Kamitani T, Yeh ET", "evidence": [ { "database": "Reactome", "id": "R-HSA-3108214", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3108214" } ], "reference": [ { "type": "PubMed", "id": "9756909", "url": "https://glygen.org/publication/PubMed/9756909" } ] }, { "title": "Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH.", "journal": "Nature genetics", "date": "1998", "authors": "Coin 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"pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925" } ], "pmid": "" }, { "name": "G1/S transition of mitotic cell cycle", "id": "GO:0000082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000082", "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925" } ], "pmid": "" }, { "name": "positive regulation of protein sumoylation", "id": "GO:0033235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033235", "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925" } ], "pmid": "" }, { "name": "receptor signaling pathway via JAK-STAT", "id": "GO:0007259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007259", "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925" } ], "pmid": "" }, { "name": "protein-DNA complex assembly", "id": "GO:0065004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065004", "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell differentiation", "id": "GO:0051152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051152", "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925" } ], "pmid": "" }, { "name": "positive regulation of protein localization to cell periphery", "id": "GO:1904377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904377", "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925" } ], "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": "O75925", "url": "https://www.uniprot.org/uniprot/O75925" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925" } ], "pmid": "" }, { "name": "PML body", "id": "GO:0016605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016605", "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925" } ], "pmid": "" }, { "name": "nuclear periphery", "id": "GO:0034399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034399", "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 251, "end_pos": 253, "annotation": "n_glycosylation_sequon" }, { "start_pos": 277, "end_pos": 279, "annotation": "n_glycosylation_sequon" }, { "start_pos": 520, "end_pos": 522, "annotation": "n_glycosylation_sequon" }, { "start_pos": 557, "end_pos": 559, "annotation": "n_glycosylation_sequon" }, { "start_pos": 605, "end_pos": 607, "annotation": "n_glycosylation_sequon" }, { "start_pos": 612, "end_pos": 614, "annotation": "n_glycosylation_sequon" }, { "start_pos": 631, "end_pos": 633, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Sumoylated.", "evidence": [ { "database": "UniProtKB", "id": "O75925", "url": "https://www.uniprot.org/uniprot/O75925" }, { "database": "PubMed", "id": "11867732", "url": "https://glygen.org/publication/PubMed/11867732" }, { "database": "PubMed", "id": "12393906", "url": "https://glygen.org/publication/PubMed/12393906" } ] } ], "interactions": [], "reactions": [ { "id": "R-HSA-2997616", "name": "PIAS1,4 SUMOylates BRCA1 with SUMO2,3", "equation": "", "summary": "PIAS1,4 SUMOylate BRCA1 with SUMO2,3 (Galanty et al. 2009, Morris et al. 2009, Vialter et al. 2011, Hendriks et al. 2014). More SUMO2,3-BRCA1 than SUMO1-BRCA1 is observed in vivo (Morris et al. 2009, Galanty et al. 2009). SUMOylation with SUMO2,3 increases in response to oxidative stress (Vialter et al. 2011). SUMOylation of BRCA1 increases its ubiquitin ligase activity (Morris et al. 2009).", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-50949" ], "output_participant_list": [ "R-HSA-2997624" ], "enzyme_list": [ "P38398-1", "P63279-1", "O75925-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-2997616", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2997616" } ] }, { "id": "R-HSA-2997709", "name": "PIAS1,4 SUMOylates BRCA1 with SUMO1", "equation": "", "summary": "PIAS1,4 SUMOylate BRCA1 with SUMO1 at lysine-109 (Morris et al. 2009, Xu et al. 2009). SUMOylation occurs in response to genotoxic stress and double-strand breaks to which PIAS1 and PIAS4 are recruited (Galanty et al. 2009). SUMOylation enhances the ability of BRCA1 to bind and modulate ESR1 (ERalpha) transcriptional activity (Xu et al. 2009). More SUMO2:BRCA1 than SUMO1:BRCA1 is observed in vivo (Morris et al. 2009, Galanty et al. 2009).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [ "R-HSA-2997644" ], "enzyme_list": [ "P38398-1", "P63279-1", "O75925-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-2997709", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2997709" } ] }, { "id": "R-HSA-3000434", "name": "PML, TRIM27, PIAS1,2-1 SUMOylate MDM2 with SUMO1", "equation": "", "summary": "PML TRIM27, PIAS1, and PIAS2-1 can each SUMOylate MDM2 with SUMO1 at lysine-182 (Miyauchi et al. 2002, Chu and Yang 2011). An unSUMOylatable mutant of MDM2 accumulates in the cytosol so SUMOylation may be part of the process of nuclear import of MDM2 (Miyauchi et al. 2002).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [ "R-HSA-3000408" ], "enzyme_list": [ "P29590-1", "Q00987-1", "P14373-1", "P63279-1", "O75925-1" ], "evidence": [ { "id": "R-HSA-3000434", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000434" } ] }, { "id": "R-HSA-3247493", "name": "PIAS1 SUMOylates SP3 with SUMO1", "equation": "", "summary": "PIAS1 SUMOylates SP3 with SUMO1 at lysine-551 (Ross et al. 2002, Sapetschnig et al. 2002, Sapetschnig et al. 2004, Spengler et al. 2005, Ellis et al. 2006, Impens et al. 2014). A minor amount of SUMOylation is also observed at lysine-120 (Ross et al. 2002). The effects of SUMOylation on the activities of isoforms of SP3 are promoter-dependent (Sapetschnig et al. 2004). Generally SUMOylation reduces the transcription activation capacity of the long and the short isoforms of Sp3 (Ross et al. 2002, Sapetschnig et al 2004, Ellis et al 2006). Mechanistically, SUMO attachment to Sp3 serves as a molecular beacon for the recruitment of chromatin-modifying machineries that impose epigenetic silencing (inferred from Drosophila homologs in Stielow et al. 2008a, inferred from mouse homologs in Stielow et al. 2008b).", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-2160951" ], "output_participant_list": [ "R-HSA-3247472" ], "enzyme_list": [ "P63279-1", "O75925-1" ], "evidence": [ { "id": "R-HSA-3247493", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3247493" } ] }, { "id": "R-HSA-3465545", "name": "PIAS1,3,4 SUMOylate MTA1 with SUMO2,3", "equation": "", "summary": "PIAS1,3,4 SUMOylate MTA1 with SUMO2,3 at lysine-509 (Cong et al. 2011). SUMOylation increases the repressor activity of MTA1 at the PS2 promoter (Cong et al. 2011).", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-3465550" ], "output_participant_list": [ "R-HSA-3465537" ], "enzyme_list": [ "P63279-1", "O75925-1", "Q9Y6X2-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-3465545", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3465545" } ] }, { "id": "R-HSA-3900194", "name": "PIAS1 SUMOylates DDX5 with SUMO2", "equation": "", "summary": "PIAS1 SUMOylates DDX5 at lysine-53 with SUMO2 (Jacobs et al. 2007, Hendriks et al. 2014, Impens et al. 2014). SUMOylation reduces the coactivation activity of DDX5 with p53 but enhances coactivation of the estrogen receptor. SUMOylation also increases stability of DDX5 and promotes interaction of DDX5 with HDAC1. DDX5 is a coactivator of p53 (TP53).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [ "R-HSA-3900186" ], "enzyme_list": [ "P63279-1", "O75925-1", "P17844-1" ], "evidence": [ { "id": "R-HSA-3900194", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3900194" } ] }, { "id": "R-HSA-3968414", "name": "UBE2I (UBC9), PIAS1 SUMOylate FOXL2 with SUMO1", "equation": "", "summary": "UBC9 and PIAS1 SUMOylate FOXL2 with SUMO1 (Kuo et al. 2009, Marongiu et al 2010, Georges et al. 2011). This modification changes its cellular localization, stability and transcriptional activity (Marongiu et al, 2010). SUMOylation localizes FOXL2 to PML bodies in the nucleus. SUMOylation is required for repression of transcription by FOXL2 at the StAR promoter and reduces transactivation by FOXL2 at the PER2 promoter. Hypophosphorylation of serine-33 correlates with SUMOylation and stablization of FOXL2, leading to enhanced transcriptional activation of TNF-R1, FAS, caspase 8, p21, and aromatase (Kim et al. 2014).", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-3968421" ], "output_participant_list": [ "R-HSA-3968395" ], "enzyme_list": [ "P63279-1", "O75925-1" ], "evidence": [ { "id": "R-HSA-3968414", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3968414" } ] }, { "id": "R-HSA-4085347", "name": "PIAS1 SUMOylates SAFB with SUMO1", "equation": "", "summary": "PIAS1 SUMOylates SAFB at lysine-231 and lysine-294 with SUMO1 (Garee et al. 2011). SUMOylation of SAFB is required for co-repressor activity of SAFB at promoters regulated by the estrogen receptor (ER). In contrast, SUMOylated SAFB increases transcription of genes encoding ribosomal proteins (Liu 2015).", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-4085379" ], "output_participant_list": [ "R-HSA-4085343" ], "enzyme_list": [ "P63279-1", "O75925-1" ], "evidence": [ { "id": "R-HSA-4085347", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085347" } ] }, { "id": "R-HSA-4085372", "name": "PIAS1 SUMOylates SAFB with SUMO2,3", "equation": "", "summary": "PIAS1 SUMOylates SAFB at lysine 231 and lysine 294 with SUMO2,3 (Garee et al. 2011). SUMOylation of SAFB is required for co-repressor activity.", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [ "R-HSA-4085357" ], "enzyme_list": [ "P63279-1", "O75925-1" ], "evidence": [ { "id": "R-HSA-4085372", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085372" } ] }, { "id": "R-HSA-4086036", "name": "PIAS1,3 SUMOylate NRIP1 with SUMO1", "equation": "", "summary": "PIAS1,3 SUMOylate NRIP1 (RIP140) at lysine 756 and lysine-1154 with SUMO1 (Rytinki et al. 2008). SUMOylation enhances transcription repression by NRIP1.", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-4086031" ], "output_participant_list": [ "R-HSA-4086057" ], "enzyme_list": [ "P63279-1", "O75925-1", "Q9Y6X2-1" ], "evidence": [ { "id": "R-HSA-4086036", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086036" } ] }, { "id": "R-HSA-4090281", "name": "PIAS1,2-1 SUMOylate HIC1 with SUMO1", "equation": "", "summary": "PIAS1,2-1 SUMOylate deacetylated HIC1 at lysine-333 (lysine 314 of HIC1 isoform 2) with SUMO1 (Stankovic-Valentin et al. 2007). Acetylation of HIC1 at lysine-333 inhibits SUMOylation. SUMOylation increases transcription repression by HIC1 (Stankovic-Valentin et al. 2007) and favors the interaction of HIC1 with MTA1 (Van Rechem et al., Mol Cell Biol, 2010) and MTA3 (Paget et al. 2016) notably during the DNA damage response (DDR) to non-repairable double strand breaks (DSBs).(Dehennaut et al. 2013). This increase of HIC1 SUMOylation during the DDR to DSBs is strictly dependent on the ATM kinase (Paget et al. 2016). SUMOylation of HIC1 is dispensable for DNA repair since the non-SUMOylatable point mutant E316A is as efficient as wt HIC1 in Comet assays which measure the repair of DSBs (Paget et al. 2016).", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-4090364" ], "output_participant_list": [ "R-HSA-4090368" ], "enzyme_list": [ "P63279-1", "O75925-1" ], "evidence": [ { "id": "R-HSA-4090281", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090281" } ] }, { "id": "R-HSA-4090288", "name": "PIAS1,3 SUMOylate MBD1 with SUMO1", "equation": "", "summary": "PIAS1,3 SUMOylates MBD1 at lysine-499 and lysine-538 of the reference sequence (lysine-450 and lysine-489 of isoform 5) with SUMO1 (Lyst et al. 2006, Uchimura et al. 2006). SUMOylated MBD1 does not form a complex with SETDB1 and does not repress transcription.", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-417134" ], "output_participant_list": [ "R-HSA-4090331" ], "enzyme_list": [ "P63279-1", "O75925-1", "Q9Y6X2-1" ], "evidence": [ { "id": "R-HSA-4090288", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090288" } ] }, { "id": "R-HSA-4090390", "name": "PIAS1,2-1 SUMOylates AR with SUMO1", "equation": "", "summary": "PIAS1,2-1 SUMOylate AR at lysine-386 and lysine-520 with SUMO1 (Poukka et al. 2000, Kotaja et al. 2002, Nishida and Yasuda 2002). SUMOylation reduces transcription activation by AR.", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-446174" ], "output_participant_list": [ "R-HSA-4090320" ], "enzyme_list": [ "P63279-1", "O75925-1" ], "evidence": [ { "id": "R-HSA-4090390", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090390" } ] }, { "id": "R-HSA-4090408", "name": "PIAS1,3 SUMOylate ESR1 with SUMO1", "equation": "", "summary": "PIAS1,3 SUMOylate ESR1 (Estrogen Receptor alpha, ER-alpha, ER, NR3A1) at lysines-266,268,299,302,303 with SUMO1 (Sentis et al. 2005). SUMOylation reduces transcription activation by ESR1.", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-446168" ], "output_participant_list": [ "R-HSA-4090302" ], "enzyme_list": [ "P63279-1", "O75925-1", "Q9Y6X2-1" ], "evidence": [ { "id": "R-HSA-4090408", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090408" } ] }, { "id": "R-HSA-4341016", "name": "PIAS1 SUMOylates NR3C2 (Mineralcorticoid Receptor) with SUMO1", "equation": "", "summary": "PIAS1 SUMOylates NR3C2 (Mineralcorticoid receptor, MR) at lysine-89, lysine-399, lysine-428, and lysine 494 with SUMO1 (Tallec et al. 2003, Tirard et al. 2007, Yokota et al. 2007). SUMOylation represses the transcription activation activity of NR3C2.", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-4341124" ], "output_participant_list": [ "R-HSA-4341098" ], "enzyme_list": [ "P63279-1", "O75925-1" ], "evidence": [ { "id": "R-HSA-4341016", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4341016" } ] }, { "id": "R-HSA-4546385", "name": "PIAS1,3 SUMOylates NR5A1 with SUMO2", "equation": "", "summary": "PIAS1,3 SUMOylate NR5A1 (Steroidogenic factor 1, SF1, SF-1) at lysine-119 and lysine-194 with SUMO2 (Chen et al. 2004, Komatsu et al. 2004, Suda et al. 2011). SUMOylation reduces synergistic activation of SOX9 by NR5A1.", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-452955" ], "output_participant_list": [ "R-HSA-4546383" ], "enzyme_list": [ "P63279-1", "O75925-1", "Q9Y6X2-1" ], "evidence": [ { "id": "R-HSA-4546385", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4546385" } ] }, { "id": "R-HSA-4546386", "name": "PIAS1,3 SUMOylates NR5A1 with SUMO1", "equation": "", "summary": "PIAS1,3 SUMOylate NR5A1 (Steroidogenic factor 1, SF1, SF-1) at lysine-119 and lysine-194 with SUMO1 (Chen et al. 2004, Komatsu et al. 2004, Suda et al. 2011). SUMOylation reduces the synergistic activation of SOX9 by NR5A1.", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [ "R-HSA-4546382" ], "enzyme_list": [ "P63279-1", "O75925-1", "Q9Y6X2-1" ], "evidence": [ { "id": "R-HSA-4546386", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4546386" } ] }, { "id": "R-HSA-4568848", "name": "PIAS1,2-1 SUMOylates XRCC4 with SUMO1", "equation": "", "summary": "PIAS1,2-1 SUMOylate XRCC4 at lysine-210 with SUMO1 (Yurchenko et al. 2006). SUMOylation causes localization of XRCC4 to the nucleus. (An unSUMOylatable mutant of XRCC4 is localized to the cytosol.)", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-75911" ], "output_participant_list": [ "R-HSA-4568892" ], "enzyme_list": [ "P63279-1", "O75925-1" ], "evidence": [ { "id": "R-HSA-4568848", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4568848" } ] }, { "id": "R-HSA-4615839", "name": "PIAS1 SUMOylates SATB1 with SUMO2,3", "equation": "", "summary": "PIAS1 SUMOylates SATB1 at lysine-744 with SUMO2,3 (Tan et al. 2008, Tan et al. 2010, Tammsalu et al. 2014). SUMOylation targets SATB1 to PML bodies where it is cleaved by caspase.", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-201593" ], "output_participant_list": [ "R-HSA-4615978" ], "enzyme_list": [ "P63279-1", "O75925-1" ], "evidence": [ { "id": "R-HSA-4615839", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4615839" } ] }, { "id": "R-HSA-4615900", "name": "PIAS1 SUMOylates SATB2 with SUMO3", "equation": "", "summary": "PIAS1 SUMOylates SATB2 at lysine-233 and lysine-350 with SUMO3 (Dobreva et al. 2003, Lamoliatte et al. 2013, Lamoliatte et al. 2014). SUMOylation reduces binding of SATB2 to matrix attachment regions and reduces activation of transcription by SATB2. SUMOylated SATB2 is localized to the nuclear periphery.", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-4615944" ], "output_participant_list": [ "R-HSA-4615865" ], "enzyme_list": [ "P63279-1", "O75925-1" ], "evidence": [ { "id": "R-HSA-4615900", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4615900" } ] }, { "id": "R-HSA-4615905", "name": "PIAS1 SUMOylates SATB1 with SUMO1", "equation": "", "summary": "PIAS1 SUMOylates SATB1 at lysine-744 with SUMO1 (Tan et al. 2008, Tan et al. 2010). SUMOylation targets SATB1 to PML bodies where it is cleaved by caspase.", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [ "R-HSA-4615954" ], "enzyme_list": [ "P63279-1", "O75925-1" ], "evidence": [ { "id": "R-HSA-4615905", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4615905" } ] }, { "id": "R-HSA-4717461", "name": "PIAS1,2-2 SUMOylate PPARG with SUMO1", "equation": "", "summary": "As inferred from mouse homologs, PIAS1,2-2 SUMOylate PPARG with SUMO1 at lysine-107 and lysine-395 (lysine-77 and lysine-365 of the shorter variant 1). SUMOylation decreases the transcriptional activation activity of PPARG. SUMOylation at lysine-395 is ligand-dependent and causes PPARG to recruit corepressors such as NCOR and HDAC3.", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-446172" ], "output_participant_list": [ "R-HSA-4717444" ], "enzyme_list": [ "P63279-1", "O75925-1" ], "evidence": [ { "id": "R-HSA-4717461", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4717461" } ] }, { "id": "R-HSA-4717521", "name": "PIAS1 SUMOylates NR2C1 (TR2)", "equation": "", "summary": "As inferred from mouse homologs, PIAS1 SUMOylates NR2C1 (TR2) with SUMO1 at lysine-250. UnSUMOylated NR2C1 is localized to PML bodies and activates expression of OCT4. SUMOylated NR2C1 delocalizes from PML bodies and acts as a repressor of transcription.", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-376211" ], "output_participant_list": [ "R-HSA-4717448" ], "enzyme_list": [ "P63279-1", "O75925-1" ], "evidence": [ { "id": "R-HSA-4717521", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4717521" } ] }, { "id": "R-HSA-4719424", "name": "PIAS1 SUMOylates THRB with SUMO1.", "equation": "", "summary": "PIAS1 SUMOylates THRB with SUMO1 at lysine-50, lysine-146, and lysine-443 (Liu et al. 2012). SUMOylation is required for induction of gene expression in response to ligand (triiodothyroxine). In the absence of SUMOylation the repressor NCOR is not dismissed in response to ligand binding.", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-446179" ], "output_participant_list": [ "R-HSA-4719421" ], "enzyme_list": [ "P63279-1", "O75925-1" ], "evidence": [ { "id": "R-HSA-4719424", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4719424" } ] }, { "id": "R-HSA-4719448", "name": "PIAS1 SUMOylates THRB with SUMO3", "equation": "", "summary": "PIAS1 SUMOylates THRB with SUMO3 at lysine-50, lysine-146, and lysine-443 (Liu et al. 2012). SUMOylation is required for induction of transcription in response to ligand binding.", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [ "R-HSA-4719433" ], "enzyme_list": [ "P63279-1", "O75925-1" ], "evidence": [ { "id": "R-HSA-4719448", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4719448" } ] }, { "id": "R-HSA-4755494", "name": "PIAS1,2-1 SUMOylate NR5A2 with SUMO1", "equation": "", "summary": "PIAS1,2-1 SUMOylate NR5A2 (LRH-1) with SUMO1 at lysine-270 (lysine-224 in the shorter isoform) (Chalkiadaki and Talianidis 2005, Ogawa et al. 2009, Venteclef et al. 2010). SUMOylation is enhanced when NR5A2 is bound to ligand. SUMOylated NR5A2 acts as a transrepressor of genes involved in inflammation such as haptoglobin, SAA, and CRP.", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P63279-1", "O75925-1" ], "evidence": [ { "id": "R-HSA-4755494", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4755494" } ] }, { "id": "R-HSA-5228521", "name": "PIAS1,4 SUMOylate CASP8AP2 with SUMO1", "equation": "", "summary": "PIAS1, PIAS4 SUMOylate CASP8AP2 (FLASH) at lysine-1813 with SUMO1 (Alm-Kristiansen et al. 2009, Alm-Kristiansen et al. 2011). SUMOylation enhances the transcriptional coactivation activity of CASP8AP2. As inferred from mouse homologs, SUMOylation also appears to trigger proteasomal degradation of CASP8AP2 (Vennemann and Hofmann 2013).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P63279-1", "O75925-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5228521", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5228521" } ] }, { "id": "R-HSA-6790454", "name": "SUMOylation of XPC", "equation": "", "summary": "XPC undergoes SUMOylation following UV irradiation on several consensus SUMOylation sites (van Cuijk et al. 2015). SUMOylation of XPC probably succeeds the UV-DDB mediated ubiquitination of XPC, as the presence of both DDB2 and XPA is required for SUMOylation (Wang et al. 2005), but it has also been reported that SUMOylation of XPC was DDB2-independent (Akita et al. 2015). It is unclear whether XPC is modified by SUMO1 (Wang et al. 2005, Akita et al. 2015) or poly-SUMO2/3 (Poulsen et al. 2013). SUMO conjugases PIAS1 and PIAS3 both interact with XPC and may catalyze XPC SUMOylation (Akita et al. 2015).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P62877-1", "P18074-1", "Q9UGN5-1", "P09874-1", "P63279-1", "Q86WJ1-1", "O75925-1", "P19447-1", "Q9Y6X2-1" ], "evidence": [ { "id": "R-HSA-6790454", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790454" } ] }, { "id": "R-HSA-6804468", "name": "PIAS1 SUMOylates SP3 with SUMO2", "equation": "", "summary": "PIAS1 SUMOylates SP3 with SUMO2 at lysine-551 (Sapetschnig et al. 2002, Galisson et al. 2011, Tammsalu et al. 2014, Hendriks et al. 2015). SUMOylation reduces the transcription activation capacity of the long and the short isoforms of Sp3 (Sapetschnig et al 2004). Mechanistically, SUMO attachment to Sp3 serves as a molecular beacon for the recruitment of chromatin-modifying machineries that impose epigenetic silencing (inferred from Drosophila homologs in Stielow et al. 2008a, inferred from mouse homologs in Stielow et al. 2008b).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [ "R-HSA-6804456" ], "enzyme_list": [ "P63279-1", "O75925-1" ], "evidence": [ { "id": "R-HSA-6804468", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804468" } ] }, { "id": "R-HSA-6804485", "name": "PIAS1 SUMOylates L3MBTL2 with SUMO2", "equation": "", "summary": "PIAS1 and possibly other SUMO E3 ligases SUMOylates L3MBTL2 with SUMO2 at lysine-675 and lysine-700 near the C-terminus (Stielow et al. 2014, Tammsalu et al. 2014). SUMOylation of L3MBTL2 does not appear to affect its chromatin binding activity, however SUMOylation does enhance transcriptional repression of a subset of L3MBTL2-target genes, particularly those with low L3MBTL2 occupancy including pro-inflammatory genes (Stielow et al. 2014). SUMOylated L3MBTL2 appears to increase the level of local ubiquitinated histone H2A (Stielow et al. 2014).", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-6804477" ], "output_participant_list": [ "R-HSA-6804480" ], "enzyme_list": [ "P63279-1", "O75925-1" ], "evidence": [ { "id": "R-HSA-6804485", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804485" } ] }, { "id": "R-HSA-877281", "name": "PIAS1 binds p-STAT1 dimer", "equation": "", "summary": "PIAS1 protein interacts directly with phoshorylated STAT1 dimers and inhibit the transcriptional activity of STAT1 by blocking the DNA-binding domain of STAT1. It has also been suggested that PIAS proteins might regulate transcription by promoting small ubiquitin-related modifier (SUMO1) conjugation of STAT1. The significance of STAT1 sumoylation in regulating STAT1 activity is controversial and needs to be clarified.", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75925-1" ], "evidence": [ { "id": "R-HSA-877281", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877281" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-201593", "participant_name": "SATB1 [nucleoplasm]", "crossref": [ { "id": "Q01826", "database": "UniProt", "url": "" }, { "id": "2MW8", "database": "PDB", "url": "" }, { "id": "2L1P", "database": "PDB", "url": "" }, { "id": "NP_001182399.1", "database": "RefSeq", "url": "" }, { "id": "NP_001124482.1", "database": "RefSeq", "url": "" }, { "id": "28533", "database": "Orphanet", "url": "" }, { "id": "3NZL", "database": "PDB", "url": "" }, { "id": "ENSG00000182568", "database": "OpenTargets", "url": "" }, { "id": "2O4A", "database": "PDB", "url": "" }, { "id": "Q01826", "database": "GeneCards", "url": "" }, { "id": "ENST00000415069", "database": "Ensembl", "url": "" }, { "id": "ENSP00000341024", "database": "Ensembl", "url": "" }, { "id": "NP_001309802.1", "database": "RefSeq", "url": "" }, { "id": "NP_001309801.1", "database": "RefSeq", "url": "" }, { "id": "2O49", "database": "PDB", "url": "" }, { "id": "NP_001309800.1", "database": "RefSeq", "url": "" }, { "id": "ENST00000454909", "database": "Ensembl", "url": "" }, { "id": "NP_002962.1", "database": "RefSeq", "url": "" }, { "id": "ENSG00000182568-SATB1", "database": "HPA", "url": "" }, { "id": "XP_011532290.1", "database": "RefSeq", "url": "" }, { "id": "Q01826", "database": "PRO", "url": "" }, { "id": "ENSG00000182568", "database": "Ensembl", "url": "" }, { "id": "1YSE", "database": "PDB", "url": "" }, { "id": "Q01826", "database": "Pharos - Targets", "url": "" }, { "id": "XP_011532291.1", "database": "RefSeq", "url": "" }, { "id": "NP_001309803.1", "database": "RefSeq", "url": "" }, { "id": "ENST00000700179", "database": "Ensembl", "url": "" }, { "id": "ENST00000700177", "database": "Ensembl", "url": "" }, { "id": "NP_001309804.1", "database": "RefSeq", "url": "" }, { "id": "ENSP00000398072", "database": "Ensembl", "url": "" }, { "id": "ENST00000457005", "database": "Ensembl", "url": "" }, { "id": "ENSP00000514846", "database": "Ensembl", "url": "" }, { "id": "ENSP00000514845", "database": "Ensembl", "url": "" }, { "id": "3TUO", "database": "PDB", "url": "" }, { "id": "ENSP00000514848", "database": "Ensembl", "url": "" }, { "id": "6LFF", "database": "PDB", "url": "" }, { "id": "ENSP00000514847", "database": "Ensembl", "url": "" }, { "id": "ENSP00000390529", "database": "Ensembl", "url": "" }, { "id": "ENSP00000399518", "database": "Ensembl", "url": "" }, { "id": "ENST00000417717", "database": "Ensembl", "url": "" }, { "id": "ENST00000700180", "database": "Ensembl", "url": "" }, { "id": "ENST00000338745", "database": "Ensembl", "url": "" }, { "id": "ENSP00000399708", 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"ENSP00000282268", "database": "Ensembl", "url": "" }, { "id": "ENST00000282268", "database": "Ensembl", "url": "" }, { "id": "ENST00000396027", "database": "Ensembl", "url": "" }, { "id": "ENSG00000152422-XRCC4", "database": "HPA", "url": "" }, { "id": "ENSP00000379344", "database": "Ensembl", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O75925", "gene_name": "PIAS1", "activity": [ { "ec_number": "2.3.2.-", "activity": "", "evidence": [ { "id": "O75925", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75925" } ] } ] }, { "uniprot_ac": "P09874", "gene_name": "PARP1", "activity": [ { "ec_number": "2.4.2.-", "activity": "", "evidence": [ { "id": "P09874", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09874" } ] }, { "ec_number": "2.4.2.30", "activity": "NAD(+) + (ADP-D-ribosyl)n-acceptor = nicotinamide + (ADP-D-ribosyl)n+1-acceptor + H(+).", "evidence": [ { "id": "P09874", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09874" } ] }, { "ec_number": "2.4.2.30", "activity": "", "evidence": [ { "id": "P09874", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09874" } ] } ] }, { "uniprot_ac": "P14373", "gene_name": "TRIM27", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "P14373", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14373" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "P14373", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14373" } ] } ] }, { "uniprot_ac": "P17844", "gene_name": "DDX5", "activity": [ { "ec_number": "3.6.4.13", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P17844", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17844" } ] }, { "ec_number": "3.6.4.13", "activity": "", "evidence": [ { "id": "P17844", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17844" } ] } ] }, { "uniprot_ac": "P18074", "gene_name": "ERCC2", "activity": [ { "ec_number": "3.6.4.12", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P18074", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18074" } ] }, { "ec_number": "3.6.4.12", "activity": "", "evidence": [ { "id": "P18074", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18074" } ] } ] }, { "uniprot_ac": "P19447", "gene_name": "ERCC3", "activity": [ { "ec_number": "3.6.4.12", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P19447", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19447" } ] }, { "ec_number": "3.6.4.12", "activity": "", "evidence": [ { "id": "P19447", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19447" } ] } ] }, { "uniprot_ac": "P29590", "gene_name": "PML", "activity": [ { "ec_number": "2.3.2.-", "activity": "", "evidence": [ { "id": "P29590", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29590" } ] } ] }, { "uniprot_ac": "P38398", "gene_name": "BRCA1", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "P38398", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38398" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "P38398", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38398" } ] } ] }, { "uniprot_ac": "P62877", "gene_name": "RBX1", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "P62877", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62877" } ] }, { "ec_number": "2.3.2.32", "activity": "S-[NEDD8-protein]-yl-[E2 NEDD8-conjugating enzyme]-L-cysteine + [cullin]-L-lysine = [E2 NEDD8-conjugating enzyme]-L-cysteine + N(6)-[NEDD8-protein]-yl-[cullin]-L-lysine.", "evidence": [ { "id": "P62877", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62877" } ] }, { "ec_number": "2.3.2.32", "activity": "", "evidence": [ { "id": "P62877", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62877" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "P62877", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62877" } ] } ] }, { "uniprot_ac": "P63279", "gene_name": "UBE2I", "activity": [ { "ec_number": "2.3.2.-", "activity": "", "evidence": [ { "id": "P63279", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P63279" } ] } ] }, { "uniprot_ac": "Q00987", "gene_name": "MDM2", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q00987", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q00987" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q00987", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q00987" } ] } ] }, { "uniprot_ac": "Q86WJ1", "gene_name": "CHD1L", "activity": [ { "ec_number": "3.6.4.-", "activity": "", "evidence": [ { "id": "Q86WJ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86WJ1" } ] } ] }, { "uniprot_ac": "Q8N2W9", "gene_name": "PIAS4", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 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"end_pos": 633 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", 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