{ "uniprot_canonical_ac": "O15446-1", "uniprot_ac": "O15446", "uniprot_id": "RPA34_HUMAN", "mass": { "chemical_mass": 54986.0, "monoisotopic_mass": 54986.0 }, "refseq": { "ac": "NP_001284519", "name": "DNA-directed RNA polymerase I subunit RPA34 isoform 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284519" }, "gene_names": [ { "name": "POLR1G", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15446", "id": "O15446" }, { "name": "ASE-1; ASE1; CAST; CD3EAP; PAF49; RPA34", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284519", "id": "NP_001284519" }, { "name": "ASE1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15446", "id": "O15446" }, { "name": "CAST", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15446", "id": "O15446" }, { "name": "CD3EAP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15446", "id": "O15446" }, { "name": "PAF49", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15446", "id": "O15446" }, { "name": "POLR1G", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284519", "id": "NP_001284519" } ], "protein_names": [ { "name": "DNA-directed RNA polymerase I subunit RPA34", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15446" }, { "name": "A34.5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15446" }, { "name": "ASE-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15446" }, { "name": "Antisense to ERCC-1 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15446" }, { "name": "CD3-epsilon-associated protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15446" }, { "name": "CD3E-associated protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15446" }, { "name": "CD3e antigen, epsilon polypeptide associated protein; DNA-directed RNA polymerase I subunit RPA34; antisense to ERCC-1 protein; RNA polymerase I-associated factor PAF49; CD3e molecule, epsilon associated protein; CD3e molecule associated protein; DNA-directed RNA polymerase I subunit G", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284519", "id": "NP_001284519" }, { "name": "DNA-directed RNA polymerase I subunit G", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15446" }, { "name": "DNA-directed RNA polymerase I subunit RPA34 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284519", "id": "NP_001284519" }, { "name": "RNA polymerase I-associated factor PAF49", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15446" } ], "function": [ { "annotation": "ASE-1 co-localises with the RNA polymerase I transcription initiation factor UBF/NOR-90 throughout all stages of the cell cycle and these two proteins associate with each other in vitro.", "evidence": [ { "database": "RefSeq", "id": "NP_001284519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284519" }, { "database": "PubMed", "id": "9426281", "url": "https://glygen.org/publication/PubMed/9426281" } ] }, { "annotation": "Common variants of pro-inflammatory gene IL1B and interactions with PPP1R13L and POLR1G in relation to lung cancer among Northeast Chinese. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001284519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284519" }, { "database": "PubMed", "id": "37147350", "url": "https://glygen.org/publication/PubMed/37147350" } ] }, { "annotation": "DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Isoform 1 is involved in UBTF-activated transcription, presumably at a step following PIC formation.", "evidence": [ { "database": "UniProtKB", "id": "O15446", "url": "https://www.uniprot.org/uniprot/O15446#function" } ] }, { "annotation": "Isoform 2 has been described as a component of preformed T-cell receptor (TCR) complex.", "evidence": [ { "database": "UniProtKB", "id": "O15446", "url": "https://www.uniprot.org/uniprot/O15446#function" } ] }, { "annotation": "PAF49: An RNA Polymerase I subunit essential for rDNA transcription and stabilization of PAF53.", "evidence": [ { "database": "RefSeq", "id": "NP_001284519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284519" }, { "database": "PubMed", "id": "37356716", "url": "https://glygen.org/publication/PubMed/37356716" } ] }, { "annotation": "STAT3 potentiates RNA polymerase I-directed transcription and tumor growth by activating RPA34 expression.", "evidence": [ { "database": "RefSeq", "id": "NP_001284519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284519" }, { "database": "PubMed", "id": "36526675", "url": "https://glygen.org/publication/PubMed/36526675" } ] }, { "annotation": "TP53 common variants and interaction with PPP1R13L and CD3EAP SNPs and lung cancer risk and smoking behavior in a Chinese population.", "evidence": [ { "database": "RefSeq", "id": "NP_001284519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284519" }, { "database": "PubMed", "id": "35351459", "url": "https://glygen.org/publication/PubMed/35351459" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "66.11", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000117877", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117877" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "60.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000117877", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117877" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "63.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000117877", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117877" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "74.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117877", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117877" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "72.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000117877", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117877" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "64.8", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000117877", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117877" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "58.21", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000117877", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117877" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "66.45", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000117877", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117877" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "65.77", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000117877", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117877" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "58.56", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000117877", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117877" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "65.8", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000117877", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117877" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "66.34", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000117877", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117877" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "67.14", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000117877", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117877" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O15446", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15446" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", 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"description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": 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"https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15446", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15446" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O15446", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15446" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O15446", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15446" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O15446", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15446" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"https://www.uniprot.org/uniprot/K7EMH2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQC8", "url": "https://www.uniprot.org/uniprot/K7EQC8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQC8-1", "url": "https://www.uniprot.org/uniprot/K7EQC8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15446", "url": "https://www.uniprot.org/uniprot/O15446", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15446-1", "url": "https://www.uniprot.org/uniprot/O15446-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15446-2", "url": "https://www.uniprot.org/uniprot/O15446-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEEPQAGDAARFSCPPNFTAKPPASESPRFSLEALTGPDTELWLIQAPADFAPECFNGRHVPLSGSQIVKGKLAGKRHRYRVLSSCPQAGEATLLAPSTEAGGGLTCASAPQGTLRILEGPQQSLSGSPLQPIPASPPPQIPPGLRPRFCAFGGNPPVTGPRSALAPNLLTSGKKKKEMQVTEAPVTQEAVNGHGALEVDMALGSPEMDVRKKKKKKNQQLKEPEAAGPVGTEPTVETLEPLGVLFPSTTKKRKKPKGKETFEPEDKTVKQEQINTEPLEDTVLSPTKKRKRQKGTEGMEPEEGVTVESQPQVKVEPLEEAIPLPPTKKRKKEKGQMAMMEPGTEAMEPVEPEMKPLESPGGTMAPQQPEGAKPQAQAALAAPKKKTKKEKQQDATVEPETEVVGPELPDDLEPQAAPTSTKKKKKKKERGHTVTEPIQPLEPELPGEGQPEARATPGSTKKRKKQSQESRMPETVPQEEMPGPPLNSESGEEAPTGRDKKRKQQQQQPV", "length": 510, "header": "sp|O15446-1|RPA34_HUMAN Isoform 1 of DNA-directed RNA polymerase I subunit RPA34 OS=Homo sapiens OX=9606 GN=POLR1G PE=1 SV=1 CANONICAL=O15446-1" }, "isoforms": [ { "isoform_ac": "K7EMH2-1", "url": "", "sequence": { "sequence": "XEEPQAGASMGGMCLSLAPRSSRANWQASGTAIESSAAVPKLEKRPCWPPQRRQEVDSPVPQPPRAP", "length": 67, "header": "tr|K7EMH2-1|K7EMH2_HUMAN Computationally mapped isoform of RNA polymerase I subunit G OS=Homo sapiens OX=9606 GN=POLR1G PE=4 SV=1 CANONICAL=O15446-1" }, "locus": { "chromosome": "19", "start_pos": 45408313, "end_pos": 45406699, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000590794.1", "url": "https://www.ensembl.org/id/ENST00000590794.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000466503.1", "url": "https://www.ensembl.org/id/ENSP00000466503.1" } ] } }, { "isoform_ac": "K7EQC8-1", "url": "", "sequence": { "sequence": "MQVTEAPVTQEAVNGHGALEVDMALGSPEMDVRKKKKKK", "length": 39, "header": "tr|K7EQC8-1|K7EQC8_HUMAN Computationally mapped isoform of RNA polymerase I subunit G OS=Homo sapiens OX=9606 GN=POLR1G PE=4 SV=1 CANONICAL=O15446-1" }, "locus": { "chromosome": "19", "start_pos": 45408619, "end_pos": 45408503, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000592852.1", "url": "https://www.ensembl.org/id/ENST00000592852.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000467771.1", "url": "https://www.ensembl.org/id/ENSP00000467771.1" } ] } }, { "isoform_ac": "O15446-1", "url": "", "sequence": { "sequence": "MEEPQAGDAARFSCPPNFTAKPPASESPRFSLEALTGPDTELWLIQAPADFAPECFNGRHVPLSGSQIVKGKLAGKRHRYRVLSSCPQAGEATLLAPSTEAGGGLTCASAPQGTLRILEGPQQSLSGSPLQPIPASPPPQIPPGLRPRFCAFGGNPPVTGPRSALAPNLLTSGKKKKEMQVTEAPVTQEAVNGHGALEVDMALGSPEMDVRKKKKKKNQQLKEPEAAGPVGTEPTVETLEPLGVLFPSTTKKRKKPKGKETFEPEDKTVKQEQINTEPLEDTVLSPTKKRKRQKGTEGMEPEEGVTVESQPQVKVEPLEEAIPLPPTKKRKKEKGQMAMMEPGTEAMEPVEPEMKPLESPGGTMAPQQPEGAKPQAQAALAAPKKKTKKEKQQDATVEPETEVVGPELPDDLEPQAAPTSTKKKKKKKERGHTVTEPIQPLEPELPGEGQPEARATPGSTKKRKKQSQESRMPETVPQEEMPGPPLNSESGEEAPTGRDKKRKQQQQQPV", "length": 510, "header": "sp|O15446-1|RPA34_HUMAN Isoform 1 of DNA-directed RNA polymerase I subunit RPA34 OS=Homo sapiens OX=9606 GN=POLR1G PE=1 SV=1 CANONICAL=O15446-1" }, "locus": { "chromosome": "19", "start_pos": 45409498, "end_pos": 45406697, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000309424.8", "url": "https://www.ensembl.org/id/ENST00000309424.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000310966.3", "url": "https://www.ensembl.org/id/ENSP00000310966.3" } ] } }, { "isoform_ac": "O15446-2", "url": "", "sequence": { "sequence": "MEEPQAGGEDAARFSCPPNFTAKPPASESPRFSLEALTGPDTELWLIQAPADFAPECFNGRHVPLSGSQIVKGKLAGKRHRYRVLSSCPQAGEATLLAPSTEAGGGLTCASAPQGTLRILEGPQQSLSGSPLQPIPASPPPQIPPGLRPRFCAFGGNPPVTGPRSALAPNLLTSGKKKKEMQVTEAPVTQEAVNGHGALEVDMALGSPEMDVRKKKKKKNQQLKEPEAAGPVGTEPTVETLEPLGVLFPSTTKKRKKPKGKETFEPEDKTVKQEQINTEPLEDTVLSPTKKRKRQKGTEGMEPEEGVTVESQPQVKVEPLEEAIPLPPTKKRKKEKGQMAMMEPGTEAMEPVEPEMKPLESPGGTMAPQQPEGAKPQAQAALAAPKKKTKKEKQQDATVEPETEVVGPELPDDLEPQAAPTSTKKKKKKKERGHTVTEPIQPLEPELPGEGQPEARATPGSTKKRKKQSQESRMPETVPQEEMPGPPLNSESGEEAPTGRDKKRKQQQQQPV", "length": 512, "header": "sp|O15446-2|RPA34_HUMAN Isoform 2 of DNA-directed RNA polymerase I subunit RPA34 OS=Homo sapiens OX=9606 GN=POLR1G PE=1 SV=1 CANONICAL=O15446-1" }, "locus": { "chromosome": "19", "start_pos": 45409498, "end_pos": 45406697, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589804.1", "url": "https://www.ensembl.org/id/ENST00000589804.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000465099.1", "url": "https://www.ensembl.org/id/ENSP00000465099.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O15446", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15446" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 124, "end_pos": 124, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15446", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O15446", "url": "http://phospho.elm.eu.org/byAccession/O15446.html" } ], "site_lbl": "Ser124" }, { "start_pos": 126, "end_pos": 126, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15446", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O15446", "url": "http://phospho.elm.eu.org/byAccession/O15446.html" } ], "site_lbl": "Ser126" }, { "start_pos": 128, "end_pos": 128, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15446", "url": "https://www.uniprot.org/uniprot/O15446" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O15446", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O15446", "url": "http://phospho.elm.eu.org/byAccession/O15446.html" } ], "site_lbl": "Ser128" }, { "start_pos": 136, "end_pos": 136, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15446", "url": "https://www.uniprot.org/uniprot/O15446" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O15446", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O15446", "url": "http://phospho.elm.eu.org/byAccession/O15446.html" } ], "site_lbl": "Ser136" }, { "start_pos": 171, "end_pos": 171, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15446", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr171" }, { "start_pos": 172, "end_pos": 172, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15446", "url": "https://www.uniprot.org/uniprot/O15446" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O15446", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446" }, { "database": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "phospho.ELM", "id": "O15446", "url": "http://phospho.elm.eu.org/byAccession/O15446.html" } ], "site_lbl": "Ser172" }, { "start_pos": 205, "end_pos": 205, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15446", "url": "https://www.uniprot.org/uniprot/O15446" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O15446", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446" }, { "database": "phospho.ELM", "id": "O15446", "url": "http://phospho.elm.eu.org/byAccession/O15446.html" } ], "site_lbl": "Ser205" }, { "start_pos": 248, "end_pos": 248, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15446", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O15446", "url": "http://phospho.elm.eu.org/byAccession/O15446.html" } ], "site_lbl": "Ser248" }, { "start_pos": 249, "end_pos": 249, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15446", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O15446", "url": "http://phospho.elm.eu.org/byAccession/O15446.html" } ], "site_lbl": "Thr249" }, { "start_pos": 27, "end_pos": 27, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15446", "url": "https://www.uniprot.org/uniprot/O15446" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O15446", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446" }, { "database": "phospho.ELM", "id": "O15446", "url": "http://phospho.elm.eu.org/byAccession/O15446.html" } ], "site_lbl": "Ser27" }, { "start_pos": 282, "end_pos": 282, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15446", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr282" }, { "start_pos": 285, "end_pos": 285, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15446", "url": "https://www.uniprot.org/uniprot/O15446" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O15446", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" }, { "database": "phospho.ELM", "id": "O15446", "url": "http://phospho.elm.eu.org/byAccession/O15446.html" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser285" }, { "start_pos": 287, "end_pos": 287, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O15446", "url": "https://www.uniprot.org/uniprot/O15446" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O15446", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "phospho.ELM", "id": "O15446", "url": "http://phospho.elm.eu.org/byAccession/O15446.html" } ], "site_lbl": "Thr287" }, { "start_pos": 309, "end_pos": 309, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15446", "url": "https://www.uniprot.org/uniprot/O15446" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" }, { "database": "iPTMnet", "id": "O15446", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446" }, { "database": "phospho.ELM", "id": "O15446", "url": "http://phospho.elm.eu.org/byAccession/O15446.html" } ], "site_lbl": "Ser309" }, { "start_pos": 359, "end_pos": 359, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15446", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser359" }, { "start_pos": 419, "end_pos": 419, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15446", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O15446", "url": "http://phospho.elm.eu.org/byAccession/O15446.html" } ], "site_lbl": "Thr419" }, { "start_pos": 421, "end_pos": 421, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15446", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O15446", "url": "http://phospho.elm.eu.org/byAccession/O15446.html" } ], "site_lbl": "Thr421" }, { "start_pos": 488, "end_pos": 488, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15446", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser488" }, { "start_pos": 490, "end_pos": 490, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15446", "url": "https://www.uniprot.org/uniprot/O15446" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O15446", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446" } ], "site_lbl": "Ser490" }, { "start_pos": 64, "end_pos": 64, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15446", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446" }, { "database": "PubMed", "id": "20068231", "url": 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"J. Biol. Chem.", "date": "1999", "authors": "Yamazaki T, Hamano Y, Tashiro H, Itoh K, Nakano H, Miyatake S, Saito T", "evidence": [ { "database": "UniProtKB", "id": "O15446", "url": "https://www.uniprot.org/uniprot/O15446" }, { "database": "iPTMnet", "id": "O15446-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446-1" } ], "reference": [ { "type": "PubMed", "id": "10373416", "url": "https://glygen.org/publication/PubMed/10373416" } ] }, { "title": "MBD2 is a transcriptional repressor belonging to the MeCP1 histone deacetylase complex.", "journal": "Nature genetics", "date": "1999", "authors": "Ng HH, Zhang Y, Hendrich B, Johnson CA, Turner BM, Erdjument-Bromage H, Tempst P, Reinberg D, Bird A", "evidence": [ { "database": "Reactome", "id": "R-HSA-427413", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427413" } ], "reference": [ { "type": "PubMed", "id": "10471499", "url": "https://glygen.org/publication/PubMed/10471499" } ] }, { "title": "Repression of RNA 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"journal": "EMBO reports", "date": "2002", "authors": "Yuan X, Zhao J, Zentgraf H, Hoffmann-Rohrer U, Grummt I", "evidence": [ { "database": "Reactome", "id": "R-HSA-73762", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73762" } ], "reference": [ { "type": "PubMed", "id": "12393749", "url": "https://glygen.org/publication/PubMed/12393749" } ] }, { "title": "Rrn3 becomes inactivated in the process of ribosomal DNA transcription.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Hirschler-Laszkiewicz I, Cavanaugh AH, Mirza A, Lun M, Hu Q, Smink T, Rothblum LI", "evidence": [ { "database": "Reactome", "id": "R-HSA-73772", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73772" } ], "reference": [ { "type": "PubMed", "id": "12646563", "url": "https://glygen.org/publication/PubMed/12646563" } ] }, { "title": "Role of human ribosomal RNA (rRNA) promoter methylation and of methyl-CpG-binding protein MBD2 in the suppression of rRNA gene expression.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Ghoshal K, Majumder S, Datta J, Motiwala T, Bai S, Sharma SM, Frankel W, Jacob ST", "evidence": [ { "database": "Reactome", "id": "R-HSA-427413", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427413" } ], "reference": [ { "type": "PubMed", "id": "14610093", "url": "https://glygen.org/publication/PubMed/14610093" } ] }, { "title": "Mechanism of RNA polymerase I transcription.", "journal": "Advances in protein chemistry", "date": "2004", "authors": "Comai L", "evidence": [ { "database": "Reactome", "id": "R-HSA-73772", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73772" } ], "reference": [ { "type": "PubMed", "id": "14969726", "url": "https://glygen.org/publication/PubMed/14969726" } ] }, { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O15446-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446-1" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "The TATA-binding protein and associated factors are integral components of the RNA polymerase I transcription factor, SL1.", "journal": "Cell", "date": "1992", "authors": "Comai L, Tanese N, Tjian R", "evidence": [ { "database": "Reactome", "id": "R-HSA-73762", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73762" } ], "reference": [ { "type": "PubMed", "id": "1547496", "url": "https://glygen.org/publication/PubMed/1547496" } ] }, { "title": "Nuclear actin and myosin I are required for RNA polymerase I transcription.", "journal": "Nature cell biology", "date": "2004", "authors": "Philimonenko VV, Zhao J, Iben S, Dingova H, Kysela K, Kahle M, Zentgraf H, Hofmann WA, de Lanerolle P, Hozak P, Grummt I", "evidence": [ { "database": "Reactome", "id": "R-HSA-5250924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5250924" } ], "reference": [ { "type": "PubMed", "id": "15558034", "url": "https://glygen.org/publication/PubMed/15558034" } ] }, { "title": "The chromatin remodelling complex WSTF-SNF2h interacts with nuclear myosin 1 and has a role in RNA polymerase I transcription.", "journal": "EMBO reports", "date": "2006", "authors": "Percipalle P, Fomproix N, Cavellan E, Voit R, Reimer G, Kruger T, Thyberg J, Scheer U, Grummt I, Farrants AK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5250924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5250924" } ], "reference": [ { "type": "PubMed", "id": "16514417", "url": "https://glygen.org/publication/PubMed/16514417" } ] }, { "title": "The WSTF-SNF2h chromatin remodeling complex interacts with several nuclear proteins in transcription.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Cavellan E, Asp P, Percipalle P, Farrants AK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5250924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5250924" } ], "reference": [ { "type": "PubMed", "id": "16603771", "url": "https://glygen.org/publication/PubMed/16603771" } ] }, { "title": "Role of DNA methyltransferases in regulation of human ribosomal RNA gene transcription.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Majumder S, Ghoshal K, Datta J, Smith DS, Bai S, Jacob ST", "evidence": [ { "database": "Reactome", "id": "R-HSA-427413", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427413" } ], "reference": [ { "type": "PubMed", "id": "16735507", "url": "https://glygen.org/publication/PubMed/16735507" } ] }, { "title": "RNA polymerase I-specific subunit CAST/hPAF49 has a role in the activation of transcription by upstream binding factor.", "journal": "Molecular and cellular biology", "date": "2006", "authors": "Panov KI, Panova TB, Gadal O, Nishiyama K, Saito T, Russell J, Zomerdijk JC", "evidence": [ { "database": "UniProtKB", "id": "O15446", "url": "https://www.uniprot.org/uniprot/O15446" }, { "database": "iPTMnet", "id": "O15446", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446" } ], "reference": [ { "type": "PubMed", "id": "16809778", "url": "https://glygen.org/publication/PubMed/16809778" } ] }, { "title": "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.", "journal": "Nature biotechnology", "date": "2006", "authors": "Beausoleil SA, Villen J, Gerber SA, Rush J, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O15446-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446-1" } ], "reference": [ { "type": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" } ] }, { "title": 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Y, Gygi SP, Elledge SJ", "evidence": [ { "database": "UniProtKB", "id": "O15446", "url": "https://www.uniprot.org/uniprot/O15446" }, { "database": "iPTMnet", "id": "O15446-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446-1" } ], "reference": [ { "type": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O15446-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O15446", "url": "https://www.uniprot.org/uniprot/O15446" }, { "database": "iPTMnet", "id": "O15446-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "O15446-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Phosphoproteomic analysis of distinct tumor cell lines in response to nocodazole treatment.", "journal": "Proteomics", "date": "2009", "authors": "Nagano K, Shinkawa T, Mutoh H, Kondoh O, Morimoto S, Inomata N, Ashihara M, Ishii N, Aoki Y, Haramura M", "evidence": [ { "database": "iPTMnet", "id": "O15446-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446-1" } ], "reference": [ { "type": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "O15446-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446-1" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic 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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": "O15446", "url": "https://www.uniprot.org/uniprot/O15446" }, { "database": "iPTMnet", "id": "O15446", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15446" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "The chromatin remodelling complex B-WICH changes the chromatin structure and recruits histone acetyl-transferases to active rRNA genes.", "journal": "PloS one", "date": "2011", "authors": "Vintermist A, Bohm S, Sadeghifar F, Louvet E, Mansen A, Percipalle P, Ostlund Farrants AK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5250924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5250924" } ], "reference": [ { "type": "PubMed", 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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": "O15446", "url": "https://www.uniprot.org/uniprot/O15446" } ], "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": "O15446", "url": "https://www.uniprot.org/uniprot/O15446" } ], "reference": [ { "type": "PubMed", "id": "25772364", "url": "https://glygen.org/publication/PubMed/25772364" } ] }, { "title": "A novel RNA binding surface of the TAM domain of TIP5/BAZ2A mediates epigenetic regulation of rRNA genes.", "journal": "Nucleic acids research", 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"sort_fields": [] }, { "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": 58 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }