{ "uniprot_canonical_ac": "O75928-1", "uniprot_ac": "O75928", "uniprot_id": "PIAS2_HUMAN", "mass": { "chemical_mass": 68240.0, "monoisotopic_mass": 68240.0 }, "refseq": { "ac": "NP_001310989", "name": "E3 SUMO-protein ligase PIAS2 isoform NY", "summary": "This gene encodes a member of the protein inhibitor of activated STAT family, which function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Isoforms of the encoded protein enhance the sumoylation of specific target proteins including the p53 tumor suppressor protein, c-Jun, and the androgen receptor. A pseudogene of this gene is located on the short arm of chromosome 4. The symbol MIZ1 has also been associated with ZBTB17 which is a different gene located on chromosome 1. [provided by RefSeq, Aug 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310989" }, "gene_names": [ { "name": "PIAS2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75928", "id": "O75928" }, { "name": "ARIP3; DIP; MIZ1; PIASX; SIZ2; ZMIZ4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310989", "id": "NP_001310989" }, { "name": "PIAS2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310989", "id": "NP_001310989" }, { "name": "PIASX", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75928", "id": "O75928" } ], "protein_names": [ { "name": "E3 SUMO-protein ligase PIAS2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75928" }, { "name": "2.3.2.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75928" }, { "name": "ARIP3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75928" }, { "name": "Androgen receptor-interacting protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75928" }, { "name": "DAB2-interacting protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75928" }, { "name": "DIP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75928" }, { "name": "E3 SUMO-protein ligase PIAS2 isoform NY", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310989", "id": "NP_001310989" }, { "name": "E3 SUMO-protein transferase PIAS2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75928" }, { "name": "Miz1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75928" }, { "name": "Msx-interacting zinc finger protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75928" }, { "name": "PIAS-NY protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75928" }, { "name": "Protein inhibitor of activated STAT x", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75928" }, { "name": "Protein inhibitor of activated STAT2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75928" }, { "name": "zinc finger, MIZ-type containing 4; E3 SUMO-protein ligase PIAS2; DAB2-interacting protein; msx-interacting zinc finger protein; androgen receptor-interacting protein 3; protein inhibitor of activated STAT X; E3 SUMO-protein transferase PIAS2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310989", "id": "NP_001310989" } ], "function": [ { "annotation": "Expression of PIAS Genes in Migraine Patients.", "evidence": [ { "database": "RefSeq", "id": "NP_001310989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310989" }, { "database": "PubMed", "id": "33763841", "url": "https://glygen.org/publication/PubMed/33763841" } ] }, { "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 coregulator in various cellular pathways, including the STAT pathway, the p53 pathway and the steroid hormone signaling pathway. The effects of this transcriptional coregulation, transactivation or silencing may vary depending upon the biological context and the PIAS2 isoform studied. However, it seems to be mostly involved in gene silencing. Binds to sumoylated ELK1 and enhances its transcriptional activity by preventing recruitment of HDAC2 by ELK1, thus reversing SUMO-mediated repression of ELK1 transactivation activity. Isoform PIAS2-beta, but not isoform PIAS2-alpha, promotes MDM2 sumoylation. Isoform PIAS2-alpha promotes PARK7 sumoylation. Isoform PIAS2-beta promotes NCOA2 sumoylation more efficiently than isoform PIAS2-alpha. Isoform PIAS2-alpha sumoylates PML at'Lys-65' and 'Lys-160'.", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928#function" }, { "database": "PubMed", "id": "15920481", "url": "https://glygen.org/publication/PubMed/15920481" }, { "database": "PubMed", "id": "15976810", "url": "https://glygen.org/publication/PubMed/15976810" }, { "database": "PubMed", "id": "22406621", "url": "https://glygen.org/publication/PubMed/22406621" } ] }, { "annotation": "Integrative transcriptome analysis reveals TEKT2 and PIAS2 involvement in diabetic nephropathy.", "evidence": [ { "database": "RefSeq", "id": "NP_001310989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310989" }, { "database": "PubMed", "id": "36251411", "url": "https://glygen.org/publication/PubMed/36251411" } ] }, { "annotation": "PIAS2-mediated blockade of IFN-beta signaling: a basis for sporadic Parkinson disease dementia.", "evidence": [ { "database": "RefSeq", "id": "NP_001310989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310989" }, { "database": "PubMed", "id": "34234281", "url": "https://glygen.org/publication/PubMed/34234281" } ] }, { "annotation": "SUMOylation of the transcription factor ZFHX3 at Lys-2806 requires SAE1, UBC9, and PIAS2 and enhances its stability and function in cell proliferation.", "evidence": [ { "database": "RefSeq", "id": "NP_001310989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310989" }, { "database": "PubMed", "id": "32249212", "url": "https://glygen.org/publication/PubMed/32249212" } ] }, { "annotation": "This gene encodes a member of the protein inhibitor of activated STAT family, which function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Isoforms of the encoded protein enhance the sumoylation of specific target proteins including the p53 tumor suppressor protein, c-Jun, and the androgen receptor. A pseudogene of this gene is located on the short arm of chromosome 4. The symbol MIZ1 has also been associated with ZBTB17 which is a different gene located on chromosome 1. [provided by RefSeq, Aug 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_001310989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310989" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O75928", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75928" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 519, "end_pos": 519, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "18", "chr_pos": "46821025", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S519", "disease": [ { "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:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "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": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 362, "end_pos": 362, "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of MDM2 and TP53 sumoylation and of autosumoylation; no loss of JUN- and TP53-binding.", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" }, { "database": "PubMed", "id": "11867732", "url": "https://glygen.org/publication/PubMed/11867732" }, { "database": "PubMed", "id": "12393906", "url": "https://glygen.org/publication/PubMed/12393906" } ] }, { "start_pos": 362, "end_pos": 362, "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of MDM2 and TP53 sumoylation and of autosumoylation; no loss of JUN- and TP53-binding.", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" }, { "database": "PubMed", "id": "11867732", "url": "https://glygen.org/publication/PubMed/11867732" }, { "database": "PubMed", 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"K7EMP6-1", "url": "https://www.uniprot.org/uniprot/K7EMP6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQX5", "url": "https://www.uniprot.org/uniprot/K7EQX5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQX5-1", "url": "https://www.uniprot.org/uniprot/K7EQX5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ER97", "url": "https://www.uniprot.org/uniprot/K7ER97", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ER97-1", "url": "https://www.uniprot.org/uniprot/K7ER97-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75928-1", "url": "https://www.uniprot.org/uniprot/O75928-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75928-2", "url": "https://www.uniprot.org/uniprot/O75928-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75928-3", "url": "https://www.uniprot.org/uniprot/O75928-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MADFEELRNMVSSFRVSELQVLLGFAGRNKSGRKHDLLMRALHLLKSGCSPAVQIKIRELYRRRYPRTLEGLSDLSTIKSSVFSLDGGSSPVEPDLAVAGIHSLPSTSVTPHSPSSPVGSVLLQDTKPTFEMQQPSPPIPPVHPDVQLKNLPFYDVLDVLIKPTSLVQSSIQRFQEKFFIFALTPQQVREICISRDFLPGGRRDYTVQVQLRLCLAETSCPQEDNYPNSLCIKVNGKLFPLPGYAPPPKNGIEQKRPGRPLNITSLVRLSSAVPNQISISWASEIGKNYSMSVYLVRQLTSAMLLQRLKMKGIRNPDHSRALIKEKLTADPDSEIATTSLRVSLMCPLGKMRLTIPCRAVTCTHLQCFDAALYLQMNEKKPTWICPVCDKKAAYESLILDGLFMEILNDCSDVDEIKFQEDGSWCPMRPKKEAMKVSSQPCTKIESSSVLSKPCSVTVASEASKKKVDVIDLTIESSSDEEEDPPAKRKCIFMSETQSSPTKGVLMYQPSSVRVPSVTSVDPAAIPPSLTDYSVPFHHTPISSMSSDLPGLDFLSLIPVDPQYCPPMFLDSLTSPLTASSTSVTTTSSHESSTHVSSSSSRSETGVITSSGSNIPDIISLD", "length": 621, "header": "sp|O75928-1|PIAS2_HUMAN Isoform 1 of E3 SUMO-protein ligase PIAS2 OS=Homo sapiens OX=9606 GN=PIAS2 PE=1 SV=3 CANONICAL=O75928-1" }, "isoforms": [ { "isoform_ac": "A0A087WUY7-1", "url": "", "sequence": { "sequence": "HMAVPFYIPTSNVWSDPVSQHPRQHLVLSVFFILAILNMVSSFRVSELQVLLGFAGRNKSGRKHDLLMRALHLLKSGCSPAVQIKIRELYRRRYPRTLEGLSDLSTIKSSVFSLDGGSSPVEPDLAVAGIHSLPSTSVTPHSPSSPVGSVLLQDTKPTFEMQQPSPPIPPVHPDVQLKNLPFYDVLDVLIKPTSLVQSSIQRFQEKFFIFALTPQQVREICISRDFLPGGRRDYTVQVQLRLCLAETSCPQEDNYPNSLCIKVNGKLFPLPGYAPPPKNGIEQKRPGRPLNITSLVRLSSAVPNQISISWASEIGKNYSMSVYLVRQLTSAMLLQRLKMKGIRNPDHSRALIKEKLTADPDSEIATTSLRVSLMCPLGKMRLTIPCRAVTCTHLQCFDAALYLQMNEKKPTWICPVCDKKAAYESLILDGLFMEILNDCSDVDEIKFQEDGSWCPMRPKKEAMKVSSQPCTKIESSSVLSKPCSVTVASEASKKKVDVIDLTIESSSDEEEDPPAKRKCIFMSETQSSPTKGFVNL", "length": 536, "header": "tr|A0A087WUY7-1|A0A087WUY7_HUMAN Computationally mapped isoform of Protein inhibitor of activated STAT 2 OS=Homo sapiens OX=9606 GN=PIAS2 PE=1 SV=1 CANONICAL=O75928-1" }, "locus": { "chromosome": "18", "start_pos": 46906230, "end_pos": 46827946, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000592212.5", "url": "https://www.ensembl.org/id/ENST00000592212.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000479025.1", "url": "https://www.ensembl.org/id/ENSP00000479025.1" } ] } }, { "isoform_ac": "A0A0A0MS92-1", "url": "", "sequence": { "sequence": "MADFEELRNMVSSFRVSELQVLLGFAGRNKSGRKHDLLMRALHLLKSGCSPAVQIKIRELYRRRYPRTLEGLSDLSTIKSSVFSLDGGSSPVEPDLAVAGIHSLPSTSVTPHSPSSPVGSVLLQDTKPTFEMQQPSPPIPPVHPDVQLKNLPFYDVLDVLIKPTSLGIFCQVVGEIIQSKFS", "length": 182, "header": "tr|A0A0A0MS92-1|PIAS2_HUMAN Computationally mapped isoform of E3 SUMO-protein ligase PIAS2 OS=Homo sapiens OX=9606 GN=PIAS2 PE=1 SV=1 CANONICAL=O75928-1" }, "locus": { "chromosome": "18", "start_pos": 46917345, "end_pos": 46855569, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000398654.7", "url": "https://www.ensembl.org/id/ENST00000398654.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000381648.3", "url": "https://www.ensembl.org/id/ENSP00000381648.3" } ] } }, { "isoform_ac": "B4DGW0-1", "url": "", "sequence": { "sequence": "MSVYLVRQLTSAMLLQRLKMKGIRNPDHSRALIKEKLTADPDSEIATTSLRVSLMCPLGKMRLTIPCRAVTCTHLQCFDAALYLQMNEKKPTWICPVCDKKAAYESLILDGLFMEILNDCSDVDEIKFQEDGSWCPMRPKKEAMKVSSQPCTKIESSSVLSKPCSVTVASEASKKKVDVIDLTIESSSDEEEDPPAKRKCIFMSETQSSPTKGVLMYQPSSVRVPSVTSVDPAAIPPSLTDYSVPFHHTPISSMSSDLPGEQRRNDINNELKLGTSSDTVQQ", "length": 282, "header": "tr|B4DGW0-1|PIAS2_HUMAN Computationally mapped isoform of E3 SUMO-protein ligase PIAS2 OS=Homo sapiens OX=9606 GN=PIAS2 PE=1 SV=1 CANONICAL=O75928-1" }, "locus": { "chromosome": "18", "start_pos": 46844830, "end_pos": 46818380, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000545673.5", "url": "https://www.ensembl.org/id/ENST00000545673.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000443238.1", "url": "https://www.ensembl.org/id/ENSP00000443238.1" } ] } }, { "isoform_ac": "K7EJT4-1", "url": "", "sequence": { "sequence": "MVSSFRVSELQVLLGFAGRNKSGRKHDLLMRALHLLKSGCSPAVQIKIRELYRRRYPRTLEGLSDLSTIKSSVFSLDGGSSPVEPDLAVAGIHSLPSTSVTPHSPSSPVGSVLLQDTKPTFE", "length": 122, "header": "tr|K7EJT4-1|PIAS2_HUMAN Computationally mapped isoform of E3 SUMO-protein ligase PIAS2 OS=Homo sapiens OX=9606 GN=PIAS2 PE=1 SV=1 CANONICAL=O75928-1" }, "locus": { "chromosome": "18", "start_pos": 46891051, "end_pos": 46890686, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589917.1", "url": "https://www.ensembl.org/id/ENST00000589917.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000465312.1", "url": "https://www.ensembl.org/id/ENSP00000465312.1" } ] } }, { "isoform_ac": "K7EMP6-1", "url": "", "sequence": { "sequence": "MAVPFYIPTSNVWSDPVSQHPRQHLVLSVFFILAILNMVSSFRVSELQVLLGFAGRNKSGRKHDLLMRALHLLKSGCSPAVQIKIRELY", "length": 89, "header": "tr|K7EMP6-1|PIAS2_HUMAN Computationally mapped isoform of E3 SUMO-protein ligase PIAS2 OS=Homo sapiens OX=9606 GN=PIAS2 PE=1 SV=1 CANONICAL=O75928-1" }, "locus": { "chromosome": "18", "start_pos": 46904102, "end_pos": 46890896, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000592221.5", "url": "https://www.ensembl.org/id/ENST00000592221.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000466596.1", "url": "https://www.ensembl.org/id/ENSP00000466596.1" } ] } }, { "isoform_ac": "K7EQX5-1", "url": "", "sequence": { "sequence": "MLSKFHMAVPFYIPTSNVWSDPVSQHPRQHLVLSVFFILAILNMVSSFRVSELQVLLGFAGRNKSGRKHDLLMRALHLLKSGCSPAVQIKIRELY", "length": 95, "header": "tr|K7EQX5-1|PIAS2_HUMAN Computationally mapped isoform of E3 SUMO-protein ligase PIAS2 OS=Homo sapiens OX=9606 GN=PIAS2 PE=1 SV=1 CANONICAL=O75928-1" }, "locus": { "chromosome": "18", "start_pos": 46906245, "end_pos": 46890896, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000587810.1", "url": "https://www.ensembl.org/id/ENST00000587810.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000468017.1", "url": "https://www.ensembl.org/id/ENSP00000468017.1" } ] } }, { "isoform_ac": "K7ER97-1", "url": "", "sequence": { "sequence": "MLPFSQNMVSSFRVSELQVLLGFAGRNKSGRKHDLLMRALHLLKSGCSPAVQIKIRELYRRRYPRTLEGLSDLSTIKSSVFSLDGGSS", "length": 88, "header": "tr|K7ER97-1|PIAS2_HUMAN Computationally mapped isoform of E3 SUMO-protein ligase PIAS2 OS=Homo sapiens OX=9606 GN=PIAS2 PE=1 SV=1 CANONICAL=O75928-1" }, "locus": { "chromosome": "18", "start_pos": 46916846, "end_pos": 46890809, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000586953.1", "url": "https://www.ensembl.org/id/ENST00000586953.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000468166.1", "url": "https://www.ensembl.org/id/ENSP00000468166.1" } ] } }, { "isoform_ac": "O75928-1", "url": "", "sequence": { "sequence": "MADFEELRNMVSSFRVSELQVLLGFAGRNKSGRKHDLLMRALHLLKSGCSPAVQIKIRELYRRRYPRTLEGLSDLSTIKSSVFSLDGGSSPVEPDLAVAGIHSLPSTSVTPHSPSSPVGSVLLQDTKPTFEMQQPSPPIPPVHPDVQLKNLPFYDVLDVLIKPTSLVQSSIQRFQEKFFIFALTPQQVREICISRDFLPGGRRDYTVQVQLRLCLAETSCPQEDNYPNSLCIKVNGKLFPLPGYAPPPKNGIEQKRPGRPLNITSLVRLSSAVPNQISISWASEIGKNYSMSVYLVRQLTSAMLLQRLKMKGIRNPDHSRALIKEKLTADPDSEIATTSLRVSLMCPLGKMRLTIPCRAVTCTHLQCFDAALYLQMNEKKPTWICPVCDKKAAYESLILDGLFMEILNDCSDVDEIKFQEDGSWCPMRPKKEAMKVSSQPCTKIESSSVLSKPCSVTVASEASKKKVDVIDLTIESSSDEEEDPPAKRKCIFMSETQSSPTKGVLMYQPSSVRVPSVTSVDPAAIPPSLTDYSVPFHHTPISSMSSDLPGLDFLSLIPVDPQYCPPMFLDSLTSPLTASSTSVTTTSSHESSTHVSSSSSRSETGVITSSGSNIPDIISLD", "length": 621, "header": "sp|O75928-1|PIAS2_HUMAN Isoform 1 of E3 SUMO-protein ligase PIAS2 OS=Homo sapiens OX=9606 GN=PIAS2 PE=1 SV=3 CANONICAL=O75928-1" }, "locus": { "chromosome": "18", "start_pos": 46917345, "end_pos": 46812436, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000585916.6", "url": "https://www.ensembl.org/id/ENST00000585916.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000465676.1", "url": "https://www.ensembl.org/id/ENSP00000465676.1" } ] } }, { "isoform_ac": "O75928-2", "url": "", "sequence": { "sequence": "MADFEELRNMVSSFRVSELQVLLGFAGRNKSGRKHDLLMRALHLLKSGCSPAVQIKIRELYRRRYPRTLEGLSDLSTIKSSVFSLDGGSSPVEPDLAVAGIHSLPSTSVTPHSPSSPVGSVLLQDTKPTFEMQQPSPPIPPVHPDVQLKNLPFYDVLDVLIKPTSLVQSSIQRFQEKFFIFALTPQQVREICISRDFLPGGRRDYTVQVQLRLCLAETSCPQEDNYPNSLCIKVNGKLFPLPGYAPPPKNGIEQKRPGRPLNITSLVRLSSAVPNQISISWASEIGKNYSMSVYLVRQLTSAMLLQRLKMKGIRNPDHSRALIKEKLTADPDSEIATTSLRVSLMCPLGKMRLTIPCRAVTCTHLQCFDAALYLQMNEKKPTWICPVCDKKAAYESLILDGLFMEILNDCSDVDEIKFQEDGSWCPMRPKKEAMKVSSQPCTKIESSSVLSKPCSVTVASEASKKKVDVIDLTIESSSDEEEDPPAKRKCIFMSETQSSPTKGVLMYQPSSVRVPSVTSVDPAAIPPSLTDYSVPFHHTPISSMSSDLPGEQRRNDINNELKLGTSSDTVQQ", "length": 572, "header": "sp|O75928-2|PIAS2_HUMAN Isoform 2 of E3 SUMO-protein ligase PIAS2 OS=Homo sapiens OX=9606 GN=PIAS2 PE=1 SV=3 CANONICAL=O75928-1" }, "locus": { "chromosome": "18", "start_pos": 46917345, "end_pos": 46818380, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000324794.11", "url": "https://www.ensembl.org/id/ENST00000324794.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000317163.6", "url": "https://www.ensembl.org/id/ENSP00000317163.6" } ] } }, { "isoform_ac": "O75928-3", "url": "", "sequence": { "sequence": "MNAGKQLQRTLHNMVSSFRVSELQVLLGFAGRNKSGRKHDLLMRALHLLKSGCSPAVQIKIRELYRRRYPRTLEGLSDLSTIKSSVFSLDGGSSPVEPDLAVAGIHSLPSTSVTPHSPSSPVGSVLLQDTKPTFEMQQPSPPIPPVHPDVQLKNLPFYDVLDVLIKPTSLVQSSIQRFQEKFFIFALTPQQVREICISRDFLPGGRRDYTVQVQLRLCLAETSCPQEDNYPNSLCIKVNGKLFPLPGYAPPPKNGIEQKRPGRPLNITSLVRLSSAVPNQISISWASEIGKNYSMSVYLVRQLTSAMLLQRLKMKGIRNPDHSRALIKEKLTADPDSEIATTSLRVSLMCPLGKMRLTIPCRAVTCTHLQCFDAALYLQMNEKKPTWICPVCDKKAAYESLILDG", "length": 405, "header": "sp|O75928-3|PIAS2_HUMAN Isoform 3 of E3 SUMO-protein ligase PIAS2 OS=Homo sapiens OX=9606 GN=PIAS2 PE=1 SV=3 CANONICAL=O75928-1" }, "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": "O75928", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" } ] } ], "phosphorylation": [ { "start_pos": 113, "end_pos": 113, "kinase_uniprot_canonical_ac": "Q15759-1", "kinase_gene_name": "MAPK11", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75928", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75928" }, { "database": "PubMed", "id": "16713578", "url": "https://glygen.org/publication/PubMed/16713578" } ], "site_lbl": "Ser113" }, { "start_pos": 113, "end_pos": 113, "kinase_uniprot_canonical_ac": "Q16539-1", "kinase_gene_name": "MAPK14", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75928", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75928" }, { "database": "PubMed", "id": "16713578", "url": "https://glygen.org/publication/PubMed/16713578" } ], "site_lbl": "Ser113" }, { "start_pos": 116, "end_pos": 116, "kinase_uniprot_canonical_ac": "Q15759-1", "kinase_gene_name": "MAPK11", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75928", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75928" }, { "database": "PubMed", "id": "16713578", "url": "https://glygen.org/publication/PubMed/16713578" } ], "site_lbl": "Ser116" }, { "start_pos": 116, "end_pos": 116, "kinase_uniprot_canonical_ac": "Q16539-1", "kinase_gene_name": "MAPK14", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75928", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75928" }, { "database": "PubMed", "id": "16713578", "url": "https://glygen.org/publication/PubMed/16713578" } ], "site_lbl": "Ser116" }, { "start_pos": 476, "end_pos": 476, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O75928", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75928" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser476" }, { "start_pos": 477, "end_pos": 477, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O75928", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75928" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser477" }, { "start_pos": 478, "end_pos": 478, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O75928", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75928" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser478" }, { "start_pos": 499, "end_pos": 499, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" }, { "database": "iPTMnet", "id": "O75928", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75928" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser499" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Recruitment of nuclear receptor corepressor and coactivator to the retinoic acid receptor by retinoid ligands. Influence of DNA-heterodimer interactions.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Klein ES, Wang JW, Khalifa B, Gavigan SA, Chandraratna RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "10777502", "url": "https://glygen.org/publication/PubMed/10777502" } ] }, { "title": "Covalent modification of p73alpha by SUMO-1. Two-hybrid screening with p73 identifies novel SUMO-1-interacting proteins and a SUMO-1 interaction motif.", "journal": "J. Biol. Chem.", "date": "2000", "authors": "Minty A, Dumont X, Kaghad M, Caput D", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "reference": [ { "type": "PubMed", "id": "10961991", "url": "https://glygen.org/publication/PubMed/10961991" } ] }, { "title": "Distinct effects of PIAS proteins on androgen-mediated gene activation in prostate cancer cells.", "journal": "Oncogene", "date": "2001", "authors": "Gross M, Liu B, Tan J, French FS, Carey M, Shuai K", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "reference": [ { "type": "PubMed", "id": "11439351", "url": "https://glygen.org/publication/PubMed/11439351" } ] }, { "title": "DJ-1 positively regulates the androgen receptor by impairing the binding of PIASx alpha to the receptor.", "journal": "J. Biol. Chem.", "date": "2001", "authors": "Takahashi K, Taira T, Niki T, Seino C, Iguchi-Ariga SM, Ariga H", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "reference": [ { "type": "PubMed", "id": "11477070", "url": "https://glygen.org/publication/PubMed/11477070" } ] }, { "title": "Members of the PIAS family act as SUMO ligases for c-Jun and p53 and repress p53 activity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Schmidt D, Muller S", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "reference": [ { "type": "PubMed", "id": "11867732", "url": "https://glygen.org/publication/PubMed/11867732" } ] }, { "title": "SUMO-1 modification of the C-terminal KVEKVD of Axin is required for JNK activation but has no effect on Wnt signaling.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Rui HL, Fan E, Zhou HM, Xu Z, Zhang Y, Lin SC", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "reference": [ { "type": "PubMed", "id": "12223491", "url": "https://glygen.org/publication/PubMed/12223491" } ] }, { "title": "Sumoylation of Mdm2 by protein inhibitor of activated STAT (PIAS) and RanBP2 enzymes.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Miyauchi Y, Yogosawa S, Honda R, Nishida T, Yasuda H", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "reference": [ { "type": "PubMed", "id": "12393906", "url": "https://glygen.org/publication/PubMed/12393906" } ] }, { "title": "PIASx is a transcriptional co-repressor of signal transducer and activator of transcription 4.", "journal": "J. Biol. Chem.", "date": "2003", "authors": "Arora Taruna, Liu Bin, He Hongchin, Kim Jenny, Murphy Theresa L, Murphy Kenneth M, Modlin Robert L, Shuai Ke", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "reference": [ { "type": "PubMed", "id": "12716907", "url": "https://glygen.org/publication/PubMed/12716907" } ] }, { "title": "Repression of the transactivating capacity of the oncoprotein PLAG1 by SUMOylation.", "journal": "J. Biol. Chem.", "date": "2004", "authors": "Van Dyck F, Delvaux EL, Van de Ven WJ, Chavez MV", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "reference": [ { "type": "PubMed", "id": "15208321", "url": "https://glygen.org/publication/PubMed/15208321" } ] }, { "title": "Molecular cloning and characterization of a novel splicing variant of PIASx.", "journal": "Acta Pharmacol. Sin.", "date": "2004", "authors": "Zheng Ying, Zhou Zuo-Min, Yin Lan-Lan, Li Jian-Min, Sha Jia-Hao", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "reference": [ { "type": "PubMed", "id": "15301740", "url": "https://glygen.org/publication/PubMed/15301740" } ] }, { "title": "Expression of HOXB2, a retinoic acid signaling target in pancreatic cancer and pancreatic intraepithelial neoplasia.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2005", "authors": "Segara D, Biankin AV, Kench JG, Langusch CC, Dawson AC, Skalicky DA, Gotley DC, Coleman MJ, Sutherland RL, Henshall SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "15867264", "url": "https://glygen.org/publication/PubMed/15867264" } ] }, { "title": "PIASx acts as an Elk-1 coactivator by facilitating derepression.", "journal": "The EMBO journal", "date": "2005-06-15", "authors": "Yang Shen-Hsi, Sharrocks Andrew D", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "reference": [ { "type": "PubMed", "id": "15920481", "url": "https://glygen.org/publication/PubMed/15920481" } ] }, { "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": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "reference": [ { "type": "PubMed", "id": "15976810", "url": "https://glygen.org/publication/PubMed/15976810" } ] }, { "title": "HoxB2 binds mutant SOD1 and is altered in transgenic model of ALS.", "journal": "Human molecular genetics", "date": "2005", "authors": "Zhai J, Lin H, Canete-Soler R, Schlaepfer WW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "16079151", "url": "https://glygen.org/publication/PubMed/16079151" } ] }, { "title": "Small ubiquitin-like modifier (SUMO) recognition of a SUMO binding motif: a reversal of the bound orientation.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Song J, Zhang Z, Hu W, Chen Y", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "reference": [ { "type": "PubMed", "id": "16204249", "url": "https://glygen.org/publication/PubMed/16204249" } ] }, { "title": "MicroRNA fingerprints during human megakaryocytopoiesis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Garzon R, Pichiorri F, Palumbo T, Iuliano R, Cimmino A, Aqeilan R, Volinia S, Bhatt D, Alder H, Marcucci G, Calin GA, Liu CG, Bloomfield CD, Andreeff M, Croce CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "16549775", "url": "https://glygen.org/publication/PubMed/16549775" } ] }, { "title": "Sumoylation delimits KLF8 transcriptional activity associated with the cell cycle regulation.", "journal": "J. Biol. Chem.", "date": "2006", "authors": "Wei H, Wang X, Gan B, Urvalek AM, Melkoumian ZK, Guan JL, Zhao J", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "reference": [ { "type": "PubMed", "id": "16617055", "url": "https://glygen.org/publication/PubMed/16617055" } ] }, { "title": "PIASxalpha differentially regulates the amplitudes of transcriptional responses following activation of the ERK and p38 MAPK pathways.", "journal": "Molecular cell", "date": "2006", "authors": "Yang SH, Sharrocks AD", "evidence": [ { "database": "iPTMnet", "id": "O75928", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75928" } ], "reference": [ { "type": "PubMed", "id": "16713578", "url": "https://glygen.org/publication/PubMed/16713578" } ] }, { "title": "Noncoding RNA synthesis and loss of Polycomb group repression accompanies the colinear activation of the human HOXA cluster.", "journal": "RNA (New York, N.Y.)", "date": "2007", "authors": "Sessa L, Breiling A, Lavorgna G, Silvestri L, Casari G, Orlando V", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "17185360", "url": "https://glygen.org/publication/PubMed/17185360" } ] }, { "title": "Overlapping roles of the methylated DNA-binding protein MBD1 and polycomb group proteins in transcriptional repression of HOXA genes and heterochromatin foci formation.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Sakamoto Y, Watanabe S, Ichimura T, Kawasuji M, Koseki H, Baba H, Nakao M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "17428788", "url": "https://glygen.org/publication/PubMed/17428788" } ] }, { "title": "HOX4 genes encode transcription factors with potential auto- and cross-regulatory capacities.", "journal": "The EMBO journal", "date": "1991", "authors": "Zappavigna V, Renucci A, Izpisua-Belmonte JC, Urier G, Peschle C, Duboule D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "1756725", "url": "https://glygen.org/publication/PubMed/1756725" } ] }, { "title": "DNA methylation regulates MicroRNA expression.", "journal": "Cancer biology & therapy", "date": "2007", "authors": "Han L, Witmer PD, Casey E, Valle D, Sukumar S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "17660710", "url": "https://glygen.org/publication/PubMed/17660710" } ] }, { "title": "UTX and JMJD3 are histone H3K27 demethylases involved in HOX gene regulation and development.", "journal": "Nature", "date": "2007", "authors": "Agger K, Cloos PA, Christensen J, Pasini D, Rose S, Rappsilber J, Issaeva I, Canaani E, Salcini AE, Helin K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "17713478", "url": "https://glygen.org/publication/PubMed/17713478" } ] }, { "title": "Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Lee MG, Villa R, Trojer P, Norman J, Yan KP, Reinberg D, Di Croce L, Shiekhattar R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "17761849", "url": "https://glygen.org/publication/PubMed/17761849" } ] }, { "title": "A histone H3 lysine 27 demethylase regulates animal posterior development.", "journal": "Nature", "date": "2007", "authors": "Lan F, Bayliss PE, Rinn JL, Whetstine JR, Wang JK, Chen S, Iwase S, Alpatov R, Issaeva I, Canaani E, Roberts TM, Chang HY, Shi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "17851529", "url": "https://glygen.org/publication/PubMed/17851529" } ] }, { "title": "MicroRNAs in the Hox network: an apparent link to posterior prevalence.", "journal": "Nature reviews. Genetics", "date": "2008", "authors": "Yekta S, Tabin CJ, Bartel DP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "18781158", "url": "https://glygen.org/publication/PubMed/18781158" } ] }, { "title": "The truncated Hoxa1 protein interacts with Hoxa1 and Pbx1 in stem cells.", "journal": "Journal of cellular biochemistry", "date": "2009", "authors": "Fernandez CC, Gudas LJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "19115252", "url": "https://glygen.org/publication/PubMed/19115252" } ] }, { "title": "Transcriptional inhibiton of Hoxd4 expression by miRNA-10a in human breast cancer cells.", "journal": "BMC molecular biology", "date": "2009", "authors": "Tan Y, Zhang B, Wu T, Skogerbo G, Zhu X, Guo X, He S, Chen R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "19232136", "url": "https://glygen.org/publication/PubMed/19232136" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O75928-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75928-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "O75928-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75928-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Retinoic acid receptor antagonists inhibit miR-10a expression and block metastatic behavior of pancreatic cancer.", "journal": "Gastroenterology", "date": "2009", "authors": "Weiss FU, Marques IJ, Woltering JM, Vlecken DH, Aghdassi A, Partecke LI, Heidecke CD, Lerch MM, Bagowski CP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "19747919", "url": "https://glygen.org/publication/PubMed/19747919" } ] }, { "title": "Sequential activation of HOX2 homeobox genes by retinoic acid in human embryonal carcinoma cells.", "journal": "Nature", "date": "1990", "authors": "Simeone A, Acampora D, Arcioni L, Andrews PW, Boncinelli E, Mavilio F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "1975088", "url": "https://glygen.org/publication/PubMed/1975088" } ] }, { "title": "Hypoxia-inducible mir-210 regulates normoxic gene expression involved in tumor initiation.", "journal": "Molecular cell", "date": "2009", "authors": "Huang X, Ding L, Bennewith KL, Tong RT, Welford SM, Ang KK, Story M, Le QT, Giaccia AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "19782034", "url": "https://glygen.org/publication/PubMed/19782034" } ] }, { "title": "Epigenetic silencing of the RASSF1A tumor suppressor gene through HOXB3-mediated induction of DNMT3B expression.", "journal": "Molecular cell", "date": "2009", "authors": "Palakurthy RK, Wajapeyee N, Santra MK, Gazin C, Lin L, Gobeil S, Green MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "19854132", "url": "https://glygen.org/publication/PubMed/19854132" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O75928-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75928-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Regulation of HOXA2 gene expression by the ATP-dependent chromatin remodeling enzyme CHD8.", "journal": "FEBS letters", "date": "2010", "authors": "Yates JA, Menon T, Thompson BA, Bochar DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "20085832", "url": "https://glygen.org/publication/PubMed/20085832" } ] }, { "title": "MDA5 is SUMOylated by PIAS2? in the upregulation of type I interferon signaling.", "journal": "Mol. Immunol.", "date": "2011", "authors": "Fu J, Xiong Y, Xu Y, Cheng G, Tang H", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "reference": [ { "type": "PubMed", "id": "21156324", "url": "https://glygen.org/publication/PubMed/21156324" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" }, { "database": "iPTMnet", "id": "O75928", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75928" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "The SUMO E3-ligase PIAS1 regulates the tumor suppressor PML and its oncogenic counterpart PML-RARA.", "journal": "Cancer research", "date": "2012", "authors": "Rabellino A, Carter B, Konstantinidou G, Wu SY, Rimessi A, Byers LA, Heymach JV, Girard L, Chiang CM, Teruya-Feldstein J, Scaglioni PP", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "reference": [ { "type": "PubMed", "id": "22406621", "url": "https://glygen.org/publication/PubMed/22406621" } ] }, { "title": "Hydroxylation of 5-methylcytosine by TET2 maintains the active state of the mammalian HOXA cluster.", "journal": "Nature communications", "date": "2012", "authors": "Bocker MT, Tuorto F, Raddatz G, Musch T, Yang FC, Xu M, Lyko F, Breiling A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "22569366", "url": "https://glygen.org/publication/PubMed/22569366" } ] }, { "title": "miR-7 and miR-218 epigenetically control tumor suppressor genes RASSF1A and Claudin-6 by targeting HoxB3 in breast cancer.", "journal": "Biochemical and biophysical research communications", "date": "2012", "authors": "Li Q, Zhu F, Chen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "22705304", "url": "https://glygen.org/publication/PubMed/22705304" } ] }, { "title": "Functional dissection of HOXD cluster genes in regulation of neuroblastoma cell proliferation and differentiation.", "journal": "PloS one", "date": "2012", "authors": "Zha Y, Ding E, Yang L, Mao L, Wang X, McCarthy BA, Huang S, Ding HF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "22879880", "url": "https://glygen.org/publication/PubMed/22879880" } ] }, { "title": "HoxB3 promotes prostate cancer cell progression by transactivating CDCA3.", "journal": "Cancer letters", "date": "2013", "authors": "Chen J, Zhu S, Jiang N, Shang Z, Quan C, Niu Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "23219899", "url": "https://glygen.org/publication/PubMed/23219899" } ] }, { "title": "Let-7c inhibits NSCLC cell proliferation by targeting HOXA1.", "journal": "Asian Pacific journal of cancer prevention : APJCP", "date": "2013", "authors": "Zhan M, Qu Q, Wang G, Liu YZ, Tan SL, Lou XY, Yu J, Zhou HH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "23534758", "url": "https://glygen.org/publication/PubMed/23534758" } ] }, { "title": "Identification of the transcription factor HOXB4 as a novel target of miR-23a.", "journal": "Genes, chromosomes & cancer", "date": "2013", "authors": "Koller K, Das S, Leuschner I, Korbelius M, Hoefler G, Guertl B", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "23630040", "url": "https://glygen.org/publication/PubMed/23630040" } ] }, { "title": "Hox in motion: tracking HoxA cluster conformation during differentiation.", "journal": "Nucleic acids research", "date": "2014", "authors": "Rousseau M, Crutchley JL, Miura H, Suderman M, Blanchette M, Dostie J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "24174538", "url": "https://glygen.org/publication/PubMed/24174538" } ] }, { "title": "MicroRNA-99 family members suppress Homeobox A1 expression in epithelial cells.", "journal": "PloS one", "date": "2013", "authors": "Chen D, Chen Z, Jin Y, Dragas D, Zhang L, Adjei BS, Wang A, Dai Y, Zhou X", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "24312487", "url": "https://glygen.org/publication/PubMed/24312487" } ] }, { "title": "miR-100 induces epithelial-mesenchymal transition but suppresses tumorigenesis, migration and invasion.", "journal": "PLoS genetics", "date": "2014", "authors": "Chen D, Sun Y, Yuan Y, Han Z, Zhang P, Zhang J, You MJ, Teruya-Feldstein J, Wang M, Gupta S, Hung MC, Liang H, Ma L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "24586203", "url": "https://glygen.org/publication/PubMed/24586203" } ] }, { "title": "KDM6 demethylase independent loss of histone H3 lysine 27 trimethylation during early embryonic development.", "journal": "PLoS genetics", "date": "2014", "authors": "Shpargel KB, Starmer J, Yee D, Pohlers M, Magnuson T", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "25101834", "url": "https://glygen.org/publication/PubMed/25101834" } ] }, { "title": "CTCF controls HOXA cluster silencing and mediates PRC2-repressive higher-order chromatin structure in NT2/D1 cells.", "journal": "Molecular and cellular biology", "date": "2014", "authors": "Xu M, Zhao GN, Lv X, Liu G, Wang LY, Hao DL, Wang J, Liu DP, Liang CC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "25135475", "url": "https://glygen.org/publication/PubMed/25135475" } ] }, { "title": "Uncovering global SUMOylation signaling networks in a site-specific manner.", "journal": "Nat. Struct. Mol. Biol.", "date": "2014", "authors": "Hendriks IA, D'Souza RC, Yang B, Verlaan-de Vries M, Mann M, Vertegaal AC", "evidence": [ { "database": "UniProtKB", "id": "B4DGW0", "url": "https://www.uniprot.org/uniprot/B4DGW0" } ], "reference": [ { "type": "PubMed", "id": "25218447", "url": "https://glygen.org/publication/PubMed/25218447" } ] }, { "title": "Differential expression of human HOX-2 genes along the anterior-posterior axis in embryonic central nervous system.", "journal": "Differentiation; research in biological diversity", "date": "1989", "authors": "Giampaolo A, Acampora D, Zappavigna V, Pannese M, D'Esposito M, Care A, Faiella A, Stornaiuolo A, Russo G, Simeone A, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "2570724", "url": "https://glygen.org/publication/PubMed/2570724" } ] }, { "title": "System-wide analysis of SUMOylation dynamics in response to replication stress reveals novel small ubiquitin-like modified target proteins and acceptor lysines relevant for genome stability.", "journal": "Mol. Cell. Proteomics", "date": "2015", "authors": "Xiao Zhenyu, Chang Jer-Gung, Hendriks Ivo A, Sigur\u00f0sson J\u00f3n Otti, Olsen Jesper V, Vertegaal Alfred C O", "evidence": [ { "database": "UniProtKB", "id": "A0A087WUY7", "url": "https://www.uniprot.org/uniprot/A0A087WUY7" } ], "reference": [ { "type": "PubMed", "id": "25755297", "url": "https://glygen.org/publication/PubMed/25755297" } ] }, { "title": "SUMO-2 orchestrates chromatin modifiers in response to DNA damage.", "journal": "Cell Rep.", "date": "2015", "authors": "Hendriks Ivo A, Treffers Louise W, Verlaan-de Vries Matty, Olsen Jesper V, Vertegaal Alfred C O", "evidence": [ { "database": "UniProtKB", "id": "B4DGW0", "url": "https://www.uniprot.org/uniprot/B4DGW0" } ], "reference": [ { "type": "PubMed", "id": "25772364", "url": "https://glygen.org/publication/PubMed/25772364" } ] }, { "title": "Structure, function and evolution of topologically associating domains (TADs) at HOX loci.", "journal": "FEBS letters", "date": "2015", "authors": "Lonfat N, Duboule D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "25913784", "url": "https://glygen.org/publication/PubMed/25913784" } ] }, { "title": "HSP70-Hrd1 axis precludes the oncorepressor potential of N-terminal misfolded Blimp-1s in lymphoma cells.", "journal": "Nat. Commun.", "date": "2017", "authors": "Wang WF, Yan L, Liu Z, Liu LX, Lin J, Liu ZY, Chen XP, Zhang W, Xu ZZ, Shi T, Li JM, Zhao YL, Meng G, Xia Y, Li JY, Zhu J", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "reference": [ { "type": "PubMed", "id": "28842558", "url": "https://glygen.org/publication/PubMed/28842558" } ] }, { "title": "SUMOylation of the transcription factor ZFHX3 at Lys-2806 requires SAE1, UBC9, and PIAS2 and enhances its stability and function in cell proliferation.", "journal": "The Journal of biological chemistry", "date": "2020", "authors": "Wu R, Fang J, Liu M, A J, Liu J, Chen W, Li J, Ma G, Zhang Z, Zhang B, Fu L, Dong JT", "evidence": [ { "database": "RefSeq", "id": "NP_001310989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310989" } ], "reference": [ { "type": "PubMed", "id": "32249212", "url": "https://glygen.org/publication/PubMed/32249212" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75928", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75928" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "Expression of PIAS Genes in Migraine Patients.", "journal": "Journal of molecular neuroscience : MN", "date": "2021", "authors": "Ghafouri-Fard S, Hesami O, Nazer N, Sayad A, Taheri M", "evidence": [ { "database": "RefSeq", "id": "NP_001310989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310989" } ], "reference": [ { "type": "PubMed", "id": "33763841", "url": "https://glygen.org/publication/PubMed/33763841" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. 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": "O75928", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75928" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "PIAS2-mediated blockade of IFN-beta signaling: a basis for sporadic Parkinson disease dementia.", "journal": "Molecular psychiatry", "date": "2021", "authors": "Magalhaes J, Tresse E, Ejlerskov P, Hu E, Liu Y, Marin A, Montalant A, Satriano L, Rundsten CF, Carlsen EMM, Rydbirk R, Sharifi-Zarchi A, Andersen JB, Aznar S, Brudek T, Khodosevich K, Prinz M, Perrier JM, Sharma M, Gasser T, Issazadeh-Navikas S", "evidence": [ { "database": "RefSeq", "id": "NP_001310989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310989" } ], "reference": [ { "type": "PubMed", "id": "34234281", "url": "https://glygen.org/publication/PubMed/34234281" } ] }, { "title": "Integrative transcriptome analysis reveals TEKT2 and PIAS2 involvement in diabetic nephropathy.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2022-11", "authors": "Li Yuanqing, Lin Hongchun, Shu Shuangshuang, Sun Yuxiang, Lai Weiyan, Chen Wenfang, Hu Zhaoyong, Peng Hui", "evidence": [ { "database": "RefSeq", "id": "NP_001310989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310989" } ], "reference": [ { "type": "PubMed", "id": "36251411", "url": "https://glygen.org/publication/PubMed/36251411" } ] }, { "title": "Retinoic acid induces three newly cloned HOXA1 transcripts in MCF7 breast cancer cells.", "journal": "Biochemical and biophysical research communications", "date": "1995", "authors": "Chariot A, Moreau L, Senterre G, Sobel ME, Castronovo V", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "7488013", "url": "https://glygen.org/publication/PubMed/7488013" } ] }, { "title": "Up-regulation of HOXC6, HOXD1, and HOXD8 homeobox gene expression in human neuroblastoma cells following chemical induction of differentiation.", "journal": "Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine", "date": "1996", "authors": "Manohar CF, Salwen HR, Furtado MR, Cohn SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "7501971", "url": "https://glygen.org/publication/PubMed/7501971" } ] }, { "title": "A retinoic acid-triggered cascade of HOXB1 gene activation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1995", "authors": "Ogura T, Evans RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "7831296", "url": "https://glygen.org/publication/PubMed/7831296" } ] }, { "title": "The 87-kD A gamma-globin enhancer-binding protein is a product of the HOXB2(HOX2H) locus.", "journal": "Blood", "date": "1994", "authors": "Sengupta PK, Lavelle DE, DeSimone J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "7906964", "url": "https://glygen.org/publication/PubMed/7906964" } ] }, { "title": "Regulation of the human HOXD4 gene by retinoids.", "journal": "Mechanisms of development", "date": "1993", "authors": "Moroni MC, Vigano MA, Mavilio F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "7908827", "url": "https://glygen.org/publication/PubMed/7908827" } ] }, { "title": "In vitro and transgenic analysis of a human HOXD4 retinoid-responsive enhancer.", "journal": "Development (Cambridge, England)", "date": "1996", "authors": "Morrison A, Moroni MC, Ariza-McNaughton L, Krumlauf R, Mavilio F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "8674428", "url": "https://glygen.org/publication/PubMed/8674428" } ] }, { "title": "Functional interaction between a RARE and an AP-2 binding site in the regulation of the human HOX A4 gene promoter.", "journal": "Nucleic acids research", "date": "1996", "authors": "Doerksen LF, Bhattacharya A, Kannan P, Pratt D, Tainsky MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "8759021", "url": "https://glygen.org/publication/PubMed/8759021" } ] }, { "title": "Functional dissection of a transcriptionally active, target-specific Hox-Pbx complex.", "journal": "The EMBO journal", "date": "1997", "authors": "Di Rocco G, Mavilio F, Zappavigna V", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "9218805", "url": "https://glygen.org/publication/PubMed/9218805" } ] }, { "title": "HOXD4 and regulation of the group 4 paralog genes.", "journal": "Development (Cambridge, England)", "date": "1997", "authors": "Morrison A, Ariza-McNaughton L, Gould A, Featherstone M, Krumlauf R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "9272954", "url": "https://glygen.org/publication/PubMed/9272954" } ] }, { "title": "The novel homeoprotein Prep1 modulates Pbx-Hox protein cooperativity.", "journal": "The EMBO journal", "date": "1998", "authors": "Berthelsen J, Zappavigna V, Ferretti E, Mavilio F, Blasi F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "9482740", "url": "https://glygen.org/publication/PubMed/9482740" } ] }, { "title": "Inhibition of Stat1-mediated gene activation by PIAS1.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1998", "authors": "Liu B, Liao J, Rao X, Kushner SA, Chung CD, Chang DD, Shuai K", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "reference": [ { "type": "PubMed", "id": "9724754", "url": "https://glygen.org/publication/PubMed/9724754" } ] }, { "title": "A testis-specific androgen receptor coregulator that belongs to a novel family of nuclear proteins.", "journal": "J. Biol. Chem.", "date": "1999", "authors": "Moilanen AM, Karvonen U, Poukka H, Yan W, Toppari J, Janne OA, Palvimo JJ", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "reference": [ { "type": "PubMed", "id": "9920921", "url": "https://glygen.org/publication/PubMed/9920921" } ] } ], "pathway": [ { "id": "R-HSA-5617472", "name": "Activation of anterior HOX genes in hindbrain development during early embryogenesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472", "resource": "Reactome", "description": "Activation of anterior HOX genes in hindbrain development during early embryogenesis" } ], "orthologs": [ { "uniprot_canonical_ac": "Q6AZ28-1", "protein_name": "E3 SUMO-protein ligase PIAS2", "gene_name": "Pias2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MADFEELRNMVSSFRVSELQVLLGFAGRNKSGRKHDLLMRALHLLKSGCTPAVQIKIRELYRRRYPRTLEGLSDLSTIKSSVFSLDGSSSPVEPDLAVAGIHSLPSTSIAPHSPSSPVASVLLQDTKPTFEMQQPSPPIPPVHPDVQLKTLPFYDVLDVLIKPTSLVQSSIQRFQEKFFIFALTPQQVREICISRDFLPGGRRDYTVQVQLRLCLAETSCPQEDNYPNSLCIKVNGKLFPLPGYAPPPKNGIEQKRPGRPLNITSLVRLSSAVPNQISISWASEIGKNYSMSVYLVRQLTSAMLLQRLKMKGIRNPDHSRALIKEKLTADPDSEIATTSLRVSLMCPLGKMRLTIPCRAVTCTHLQCFDAALYLQMNEKKPTWICPVCDKKAAYESLILDGLFMEILNDCSDVDEIKFQEDGSWCPMRPKKEAMKVTSQPCTKVESSSVFSKPCSVTVASDASKKKIDVIDLTIESSSDEEEDPPAKRKCIFMSETQSSPTKGVLMYQPSSVRVPSVTSVDPAAIPPSLTDYSVPFHHTPVSSMSSDLPGEQRRNDINNEVQLGTSSDTVQQ", "length": 572 }, "evidence": [ { "id": "45920578", "url": "http://www.informatics.jax.org/homology/45920578", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8C5D8-1", "protein_name": "E3 SUMO-protein ligase PIAS2", "gene_name": "Pias2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MADFEELRNMVSSFRVSELQVLLGFAGRNKSGRKHDLLMRALHLLKSGCSPAVQIKIRELYRRRYPRTLEGLCDLSTIKSSVFSLDGSSSPVEPDLPVAGIHSLPSTSITPHSPSSPVGSVLLQDTKPTFEMQQPSPPIPPVHPDVQLKNLPFYDVLDVLIKPTSLVQSSIQRFQEKFFIFALTPQQVREICISRDFLPGGRRDYTVQVQLRLCLAETSCPQEDNYPNSLCIKVNGKLFPLPGYAPPPKNGIEQKRPGRPLNITSLVRLSSAVPNQISISWASEIGKNYSMSVYLVRQLTSAMLLQRLKMKGIRNPDHSRALIKEKLTADPDSEIATTSLRVSLMCPLGKMRLTIPCRAVTCTHLQCFDAALYLQMNEKKPTWICPVCDKKAAYESLILDGLFMEILNDCSDVDEIKFQEDGSWCPMRPKKEAMKVTSQPCTKVESSSVFSKPCSVTVASDASKKKIDVIDLTIESSSDEEEDPPAKRKCIFMSETQSSPTKGVLMYQPSSVRVPSVTSVDPAAIPPSLTDYSVPFHHTPVSSMSSDLPGLDFLSLIPVDPQYCPPMFLDSLTSPLTASSTSVTTTSPHESSTHVSSSSSRSETGVITSSGRNIPDIISLD", "length": 621 }, "evidence": [ { "id": "45920578", "url": "http://www.informatics.jax.org/homology/45920578", "database": "MGI" }, { "id": "O75928", "url": "https://omabrowser.org/oma/group/O75928/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "pmid": "" }, { "name": "PML body", "id": "GO:0016605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016605", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 8, "go_terms": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "pmid": "" }, { "name": "SUMO ligase activity", "id": "GO:0061665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061665", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "pmid": "" }, { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "pmid": "" }, { "name": "SUMO transferase activity", "id": "GO:0019789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019789", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "pmid": "" }, { "name": "transferase activity", "id": "GO:0016740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016740", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "pmid": "" }, { "name": "protein sumoylation", "id": "GO:0016925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016925", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "pmid": "" }, { "name": "negative regulation of DNA-binding transcription factor activity", "id": "GO:0043433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043433", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "pmid": "" }, { "name": "negative regulation of androgen receptor signaling pathway", "id": "GO:0060766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060766", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 262, "end_pos": 264, "annotation": "n_glycosylation_sequon" }, { "start_pos": 288, "end_pos": 290, "annotation": "n_glycosylation_sequon" }, { "start_pos": 29, "end_pos": 31, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Sumoylated.", "evidence": [ { "database": "UniProtKB", "id": "O75928", "url": "https://www.uniprot.org/uniprot/O75928" }, { "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-5617454", "name": "HOXB1 gene is transcribed", "equation": "", "summary": "After activation by retinoic acid, the HOXB1 gene is transcribed to yield mRNA (in embryos in Giampaolo et al. 1989, in human embryonal carcinoma cells in Simeone et al. 1990, Ogura and Evans 1995).
In mouse embryos, Hoxb1 is expressed in mesoderm and neurectoderm of primitive streak stage embryos and then becomes restricted to rhombomeres of the hindbrain. Before rhombomere formation Hoxb1 is initially expressed in the region that becomes r3-7. After rhombomere formation Hoxb1 becomes restricted to r4 and is also observed in caudal mesoderm.", "cellular_location": "cytosol, nucleoplasm", "input_participant_list": [ "R-HSA-5617450" ], "output_participant_list": [], "enzyme_list": [ "O15550-1", "O75928-1", "Q09472-1", "O14686-1", "P24928-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P30876-1", "P11161-1" ], "evidence": [ { "id": "R-HSA-5617454", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617454" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-5617450", "participant_name": "HOXB1 gene [nucleoplasm]", "crossref": [ { "id": "ENSG00000120094", "database": "ENSEMBL", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O14686", "gene_name": "KMT2D", "activity": [ { "ec_number": "2.1.1.364", "activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "O14686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14686" } ] }, { "ec_number": "2.1.1.364", "activity": "", "evidence": [ { "id": "O14686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14686" } ] } ] }, { "uniprot_ac": "O15550", "gene_name": "KDM6A", "activity": [ { "ec_number": "1.14.11.68", "activity": "2 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(27)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + N(6)-methyl-L-lysyl(27)-[histone H3] + 2 succinate.", "evidence": [ { "id": "O15550", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15550" } ] }, { "ec_number": "1.14.11.68", "activity": "", "evidence": [ { "id": "O15550", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15550" } ] } ] }, { "uniprot_ac": "O75928", "gene_name": "PIAS2", "activity": [ { "ec_number": "2.3.2.-", "activity": "", "evidence": [ { "id": "O75928", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75928" } ] } ] }, { "uniprot_ac": "P11161", "gene_name": "EGR2", "activity": [ { "ec_number": "2.3.2.-", "activity": "", "evidence": [ { "id": "P11161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11161" } ] } ] }, { "uniprot_ac": "P24928", "gene_name": "POLR2A", "activity": [ { "ec_number": "2.7.7.6", "activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).", "evidence": [ { "id": "P24928", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24928" } ] }, { "ec_number": "2.7.7.6", "activity": "", "evidence": [ { "id": "P24928", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24928" } ] }, { "ec_number": "2.7.7.48", "activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).", "evidence": [ { "id": "P24928", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24928" } ] } ] }, { "uniprot_ac": "P30876", "gene_name": "POLR2B", "activity": [ { "ec_number": "2.7.7.6", "activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).", "evidence": [ { "id": "P30876", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30876" } ] }, { "ec_number": "2.7.7.6", "activity": "", "evidence": [ { "id": "P30876", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30876" } ] } ] }, { "uniprot_ac": "Q09472", "gene_name": "EP300", "activity": [ { "ec_number": "2.3.1.48", "activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].", "evidence": [ { "id": "Q09472", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q09472" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q09472", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q09472" } ] }, { "ec_number": "2.3.1.48", "activity": "", "evidence": [ { "id": "Q09472", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q09472" } ] } ] }, { "uniprot_ac": "Q8NEZ4", "gene_name": "KMT2C", "activity": [ { "ec_number": "2.1.1.364", "activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q8NEZ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NEZ4" } ] }, { "ec_number": "2.1.1.364", "activity": "", "evidence": [ { "id": "Q8NEZ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NEZ4" } ] } ] }, { "uniprot_ac": "Q9Y6Q9", "gene_name": "NCOA3", "activity": [ { "ec_number": "2.3.1.48", "activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].", "evidence": [ { "id": "Q9Y6Q9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y6Q9" } ] }, { "ec_number": "2.3.1.48", "activity": "", "evidence": [ { "id": "Q9Y6Q9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y6Q9" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 519 ], "glycation_sites": [], "phosphorylation_sites": [ 113, 116, 476, 477, 478, 499 ], "sequon_annotation_sites": [ { "start_pos": 262, "end_pos": 264 }, { "start_pos": 288, "end_pos": 290 }, { "start_pos": 29, "end_pos": 31 } ] }, "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", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 74 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }