{ "uniprot_canonical_ac": "P05423-1", "uniprot_ac": "P05423", "uniprot_id": "RPC4_HUMAN", "mass": { "chemical_mass": 44396.0, "monoisotopic_mass": 44396.0 }, "refseq": { "ac": "NP_001713", "name": "DNA-directed RNA polymerase III subunit RPC4", "summary": "This gene complements a temperature-sensitive mutant isolated from the BHK-21 Syrian hamster cell line. It leads to a block in progression through the G1 phase of the cell cycle at nonpermissive temperatures. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001713" }, "gene_names": [ { "name": "POLR3D", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P05423", "id": "P05423" }, { "name": "BN51T; C53; RPC4; RPC53; TSBN51", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001713", "id": "NP_001713" }, { "name": "BN51T", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05423", "id": "P05423" }, { "name": "BN51", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05423", "id": "P05423" }, { "name": "POLR3D", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001713", "id": "NP_001713" } ], "protein_names": [ { "name": "DNA-directed RNA polymerase III subunit RPC4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P05423" }, { "name": "BN51 (BHK21) temperature sensitivity complementing; polymerase (RNA) III (DNA directed) polypeptide D, 44kDa; temperature sensitive complementation, cell cycle specific, tsBN51; RNA polymerase III subunit C4; DNA-directed RNA polymerase III subunit D; DNA-directed RNA polymerase III 47 kDa polypeptide; RPC53 homolog; RNA polymerase III 47 kDa subunit; polymerase (RNA) III subunit D", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001713", "id": "NP_001713" }, { "name": "DNA-directed RNA polymerase III subunit D", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05423" }, { "name": "DNA-directed RNA polymerase III subunit RPC4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001713", "id": "NP_001713" }, { "name": "Protein BN51", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05423" }, { "name": "RNA polymerase III 47 kDa subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05423" }, { "name": "RNA polymerase III subunit C4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05423" }, { "name": "RPC53 homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05423" } ], "function": [ { "annotation": "DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates (PubMed:20413673, PubMed:12391170, PubMed:35637192, PubMed:34675218, PubMed:33558764). Specific peripheric component of RNA polymerase III (Pol III) which synthesizes small non-coding RNAs including 5S rRNA, snRNAs, tRNAs and miRNAs from at least 500 distinct genomic loci. Assembles with POLR3E/RPC5 forming a subcomplex that binds the Pol III core. Enables recruitment of Pol III at transcription initiation site and drives transcription initiation from both type 2 and type 3 DNA promoters. Required for efficient transcription termination and reinitiation (PubMed:20413673, PubMed:12391170, PubMed:35637192) (By similarity). Pol III plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF-kappa-B through the RIG-I pathway (PubMed:19609254, PubMed:19631370).", "evidence": [ { "database": "UniProtKB", "id": "P05423", "url": "https://www.uniprot.org/uniprot/P05423#function" }, { "database": "PubMed", "id": "19631370", "url": "https://glygen.org/publication/PubMed/19631370" }, { "database": "PubMed", "id": "19609254", "url": "https://glygen.org/publication/PubMed/19609254" }, { "database": "PubMed", "id": "12391170", "url": "https://glygen.org/publication/PubMed/12391170" }, { "database": "PubMed", "id": "34675218", "url": "https://glygen.org/publication/PubMed/34675218" }, { "database": "PubMed", "id": "35637192", "url": "https://glygen.org/publication/PubMed/35637192" }, { "database": "PubMed", "id": "20413673", "url": "https://glygen.org/publication/PubMed/20413673" }, { "database": "UniProtKB", "id": "P25441", "url": "https://www.uniprot.org/uniprot/P25441#function" }, { "database": "PubMed", "id": "33558764", "url": "https://glygen.org/publication/PubMed/33558764" } ] }, { "annotation": "Studies indicate that aatients with anti-RNAP have an increased risk of malignancy within a 5-year timeframe before or after onset of systemic sclerosis (SSc) skin changes.", "evidence": [ { "database": "RefSeq", "id": "NP_001713", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001713" }, { "database": "PubMed", "id": "22189167", "url": "https://glygen.org/publication/PubMed/22189167" } ] }, { "annotation": "This gene complements a temperature-sensitive mutant isolated from the BHK-21 Syrian hamster cell line. It leads to a block in progression through the G1 phase of the cell cycle at nonpermissive temperatures. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001713", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001713" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "71.14", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168495", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168495" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "67.71", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168495", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168495" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "72.71", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168495", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168495" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "63.85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168495", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168495" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "81.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168495", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168495" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "85.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168495", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168495" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "57.39", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000168495", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168495" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "75.66", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168495", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168495" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "80.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168495", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168495" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "57.82", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000168495", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168495" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "76.42", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168495", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168495" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "82.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168495", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168495" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "80.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168495", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168495" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P05423", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05423" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"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": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant 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"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": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P05423", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05423" } ], "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": "P05423", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05423" } ], "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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OS=Homo sapiens OX=9606 GN=POLR3D PE=1 SV=1 CANONICAL=P05423-1" }, "locus": { "chromosome": "8", "start_pos": 22248615, "end_pos": 22245450, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000519237.5", "url": "https://www.ensembl.org/id/ENST00000519237.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000429677.1", "url": "https://www.ensembl.org/id/ENSP00000429677.1" } ] } }, { "isoform_ac": "E7EQ68-1", "url": "", "sequence": { "sequence": "MSEGNAAGEPSTPGGPRPLLTGARGLIGRRPAPPLTPGRLPSIRSRDLTLGGVKKKTFTPNIISRKIKEEPKEEVTVKKEKRERDRDRQREGHGRGRGRPEVIQSHSIFEQGPAEMMKKKVPR", "length": 123, "header": "tr|E7EQ68-1|RPC4_HUMAN Computationally mapped isoform of DNA-directed RNA polymerase III subunit RPC4 OS=Homo sapiens OX=9606 GN=POLR3D PE=1 SV=1 CANONICAL=P05423-1" }, "locus": { "chromosome": "8", "start_pos": 22248488, "end_pos": 22245450, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000518039.1", "url": "https://www.ensembl.org/id/ENST00000518039.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000429821.1", "url": "https://www.ensembl.org/id/ENSP00000429821.1" } ] } }, { "isoform_ac": "P05423-1", "url": "", "sequence": { "sequence": "MSEGNAAGEPSTPGGPRPLLTGARGLIGRRPAPPLTPGRLPSIRSRDLTLGGVKKKTFTPNIISRKIKEEPKEEVTVKKEKRERDRDRQREGHGRGRGRPEVIQSHSIFEQGPAEMMKKKGNWDKTVDVSDMGPSHIINIKKEKRETDEETKQILRMLEKDDFLDDPGLRNDTRNMPVQLPLAHSGWLFKEENDEPDVKPWLAGPKEEDMEVDIPAVKVKEEPRDEEEEAKMKAPPKAARKTPGLPKDVSVAELLRELSLTKEEELLFLQLPDTLPGQPPTQDIKPIKTEVQGEDGQVVLIKQEKDREAKLAENACTLADLTEGQVGKLLIRKSGRVQLLLGKVTLDVTMGTACSFLQELVSVGLGDSRTGEMTVLGHVKHKLVCSPDFESLLDHKHR", "length": 398, "header": "sp|P05423-1|RPC4_HUMAN Isoform 1 of DNA-directed RNA polymerase III subunit RPC4 OS=Homo sapiens OX=9606 GN=POLR3D PE=1 SV=2 CANONICAL=P05423-1" }, "locus": { "chromosome": "8", "start_pos": 22250515, "end_pos": 22245450, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397802.8", "url": "https://www.ensembl.org/id/ENST00000397802.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000380904.3", "url": "https://www.ensembl.org/id/ENSP00000380904.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P05423", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05423" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "phosphorylation": [ { "start_pos": 250, "end_pos": 250, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P05423", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05423" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser250" }, { "start_pos": 386, "end_pos": 386, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P05423", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05423" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "phospho.ELM", "id": "P05423", "url": "http://phospho.elm.eu.org/byAccession/P05423.html" } ], "site_lbl": "Ser386" }, { "start_pos": 42, "end_pos": 42, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P05423", "url": "https://www.uniprot.org/uniprot/P05423" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P05423", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05423" } ], "site_lbl": "Ser42" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "SNAP(c): a core promoter factor with a built-in DNA-binding damper that is deactivated by the Oct-1 POU domain.", "journal": "Genes & development", "date": "1999", "authors": "Mittal V, Ma B, Hernandez N", "evidence": [ { "database": "Reactome", "id": "R-HSA-76071", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-76071" } ], "reference": [ { "type": "PubMed", "id": "10421633", "url": "https://glygen.org/publication/PubMed/10421633" } ] }, { "title": "A map of protein-protein contacts within the small nuclear RNA-activating protein complex SNAPc.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Ma B, Hernandez N", "evidence": [ { "database": "Reactome", "id": "R-HSA-76071", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-76071" } ], "reference": [ { "type": "PubMed", "id": "11056176", "url": "https://glygen.org/publication/PubMed/11056176" } ] }, { "title": "Nuclear factor 1 (NF1) affects accurate termination and multiple-round transcription by human RNA polymerase III.", "journal": "The EMBO journal", "date": "2000", "authors": "Wang Z, Bai L, Hsieh YJ, Roeder RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-73980", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73980" } ], "reference": [ { "type": "PubMed", "id": "11118217", "url": "https://glygen.org/publication/PubMed/11118217" } ] }, { "title": "Reconstitution of transcription from the human U6 small nuclear RNA promoter with eight recombinant polypeptides and a partially purified RNA polymerase III complex.", "journal": "J. Biol. Chem.", "date": "2001", "authors": "Chong S S, Hu P, Hernandez N", "evidence": [ { "database": "UniProtKB", "id": "P05423", "url": "https://www.uniprot.org/uniprot/P05423" } ], "reference": [ { "type": "PubMed", "id": "11279001", "url": "https://glygen.org/publication/PubMed/11279001" } ] }, { "title": "The RNA polymerase III transcription apparatus.", "journal": "Journal of molecular biology", "date": "2001", "authors": "Geiduschek EP, Kassavetis GA", "evidence": [ { "database": "Reactome", "id": "R-HSA-76066", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-76066" } ], "reference": [ { "type": "PubMed", "id": "11419933", "url": "https://glygen.org/publication/PubMed/11419933" } ] }, { "title": "A positioned nucleosome on the human U6 promoter allows recruitment of SNAPc by the Oct-1 POU domain.", "journal": "Molecular cell", "date": "2001", "authors": "Zhao X, Pendergrast PS, Hernandez N", "evidence": [ { "database": "Reactome", "id": "R-HSA-76071", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-76071" } ], "reference": [ { "type": "PubMed", "id": "11463379", "url": "https://glygen.org/publication/PubMed/11463379" } ] }, { "title": "Recruitment of RNA polymerase III to its target promoters.", "journal": "Genes & development", "date": "2002", "authors": "Schramm L, Hernandez N", "evidence": [ { "database": "Reactome", "id": "R-HSA-76066", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-76066" } ], "reference": [ { "type": "PubMed", "id": "12381659", "url": "https://glygen.org/publication/PubMed/12381659" } ] }, { "title": "Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunits.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Hu P, Wu S, Sun Y, Yuan CC, Kobayashi R, Myers MP, Hernandez N", "evidence": [ { "database": "UniProtKB", "id": "P05423", "url": "https://www.uniprot.org/uniprot/P05423" } ], "reference": [ { "type": "PubMed", "id": "12391170", "url": "https://glygen.org/publication/PubMed/12391170" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P05423", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05423" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "AIM2 recognizes cytosolic dsDNA and forms a caspase-1-activating inflammasome with ASC.", "journal": "Nature", "date": "2009", "authors": "Hornung V, Ablasser A, Charrel-Dennis M, Bauernfeind F, Horvath G, Caffrey DR, Latz E, Fitzgerald KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1834949", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1834949" } ], "reference": [ { "type": "PubMed", "id": "19158675", "url": "https://glygen.org/publication/PubMed/19158675" } ] }, { "title": "AIM2 activates the inflammasome and cell death in response to cytoplasmic DNA.", "journal": "Nature", "date": "2009", "authors": "Fernandes-Alnemri T, Yu JW, Datta P, Wu J, Alnemri ES", "evidence": [ { "database": "Reactome", "id": "R-HSA-1834949", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1834949" } ], "reference": [ { "type": "PubMed", "id": "19158676", "url": "https://glygen.org/publication/PubMed/19158676" } ] }, { "title": "An orthogonal proteomic-genomic screen identifies AIM2 as a cytoplasmic DNA sensor for the inflammasome.", "journal": "Nature immunology", "date": "2009", "authors": "Burckstummer T, Baumann C, Bluml S, Dixit E, Durnberger G, Jahn H, Planyavsky M, Bilban M, Colinge J, Bennett KL, Superti-Furga G", "evidence": [ { "database": "Reactome", "id": "R-HSA-1834949", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1834949" } ], "reference": [ { "type": "PubMed", "id": "19158679", "url": "https://glygen.org/publication/PubMed/19158679" } ] }, { "title": "The small subunit of transcription factor IIF recruits RNA polymerase II into the preinitiation complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1991", "authors": "Flores O, Lu H, Killeen M, Greenblatt J, Burton ZF, Reinberg D", "evidence": [ { "database": "Reactome", "id": "R-HSA-76061", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-76061" } ], "reference": [ { "type": "PubMed", "id": "1946469", "url": "https://glygen.org/publication/PubMed/1946469" } ] }, { "title": "RIG-I-dependent sensing of poly(dA:dT) through the induction of an RNA polymerase III-transcribed RNA intermediate.", "journal": "Nature immunology", "date": "2009", "authors": "Ablasser A, Bauernfeind F, Hartmann G, Latz E, Fitzgerald KA, Hornung V", "evidence": [ { "database": "UniProtKB", "id": "P05423", "url": "https://www.uniprot.org/uniprot/P05423" }, { "database": "Reactome", "id": "R-HSA-1834949", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1834949" } ], "reference": [ { "type": "PubMed", "id": "19609254", "url": "https://glygen.org/publication/PubMed/19609254" } ] }, { "title": "RNA polymerase III detects cytosolic DNA and induces type I interferons through the RIG-I pathway.", "journal": "Cell", "date": "2009", "authors": "Chiu YH, Macmillan JB, Chen ZJ", "evidence": [ { "database": "UniProtKB", "id": "P05423", "url": "https://www.uniprot.org/uniprot/P05423" }, { "database": "Reactome", "id": "R-HSA-1834949", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1834949" } ], "reference": [ { "type": "PubMed", "id": "19631370", "url": "https://glygen.org/publication/PubMed/19631370" } ] }, { "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": "P05423", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05423" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Defining the RNA polymerase III transcriptome: Genome-wide localization of the RNA polymerase III transcription machinery in human cells.", "journal": "Genome research", "date": "2010-06", "authors": "Canella Donatella, Praz Viviane, Reina Jaime H, Cousin Pascal, Hernandez Nouria", "evidence": [ { "database": "UniProtKB", "id": "P05423", "url": "https://www.uniprot.org/uniprot/P05423" } ], "reference": [ { "type": "PubMed", "id": "20413673", "url": "https://glygen.org/publication/PubMed/20413673" } ] }, { "title": "Cutting edge: Ku70 is a novel cytosolic DNA sensor that induces type III rather than type I IFN.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2011", "authors": "Zhang X, Brann TW, Zhou M, Yang J, Oguariri RM, Lidie KB, Imamichi H, Huang DW, Lempicki RA, Baseler MW, Veenstra TD, Young HA, Lane HC, Imamichi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1834949", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1834949" } ], "reference": [ { "type": "PubMed", "id": "21398614", "url": "https://glygen.org/publication/PubMed/21398614" } ] }, { "title": "Prevalence, correlates and clinical usefulness of antibodies to RNA polymerase III in systemic sclerosis: a cross-sectional analysis of data from an Australian cohort.", "journal": "Arthritis research & therapy", "date": "2011", "authors": "Nikpour M, Hissaria P, Byron J, Sahhar J, Micallef M, Paspaliaris W, Roddy J, Nash P, Sturgess A, Proudman S, Stevens W", "evidence": [ { "database": "RefSeq", "id": "NP_001713", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001713" } ], "reference": [ { "type": "PubMed", "id": "22189167", "url": 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"url": "https://glygen.org/publication/PubMed/23251783" } ] }, { "title": "DNA damage sensor MRE11 recognizes cytosolic double-stranded DNA and induces type I interferon by regulating STING trafficking.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2013", "authors": "Kondo T, Kobayashi J, Saitoh T, Maruyama K, Ishii KJ, Barber GN, Komatsu K, Akira S, Kawai T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1834949", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1834949" } ], "reference": [ { "type": "PubMed", "id": "23388631", "url": "https://glygen.org/publication/PubMed/23388631" } ] }, { "title": "S. cerevisiae TFIIIB is the transcription initiation factor proper of RNA polymerase III, while TFIIIA and TFIIIC are assembly factors.", "journal": "Cell", "date": "1990", "authors": "Kassavetis GA, Braun BR, Nguyen LH, Geiduschek EP", "evidence": [ { "database": "Reactome", "id": "R-HSA-76061", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-76061" } ], "reference": [ { "type": "PubMed", "id": "2404611", "url": "https://glygen.org/publication/PubMed/2404611" } ] }, { "title": "Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Guo A, Gu H, Zhou J, Mulhern D, Wang Y, Lee KA, Yang V, Aguiar M, Kornhauser J, Jia X, Ren J, Beausoleil SA, Silva JC, Vemulapalli V, Bedford MT, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "P05423", "url": "https://www.uniprot.org/uniprot/P05423" } ], "reference": [ { "type": "PubMed", "id": "24129315", "url": "https://glygen.org/publication/PubMed/24129315" } ] }, { "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": "P05423", "url": "https://www.uniprot.org/uniprot/P05423" } ], "reference": [ { "type": "PubMed", "id": "25218447", "url": "https://glygen.org/publication/PubMed/25218447" } ] }, { "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": "P05423", "url": "https://www.uniprot.org/uniprot/P05423" } ], "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": "P05423", "url": "https://www.uniprot.org/uniprot/P05423" } ], "reference": [ { "type": "PubMed", "id": "25772364", "url": "https://glygen.org/publication/PubMed/25772364" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P05423", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05423" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Structure of human RNA polymerase III.", "journal": "Nat. Commun.", "date": "2020", "authors": "Ramsay Ewan Phillip, Abascal-Palacios Guillermo, Dai\u00df Julia L, King Helen, Gouge Jerome, Pilsl Michael, Beuron Fabienne, Morris Edward, Gunkel Philip, Engel Christoph, Vannini Alessandro", "evidence": [ { "database": "UniProtKB", "id": "P05423", "url": "https://www.uniprot.org/uniprot/P05423" } ], "reference": [ { "type": "PubMed", "id": "33335104", "url": "https://glygen.org/publication/PubMed/33335104" } ] }, { "title": "Cryo-EM structures of human RNA polymerase III in its unbound and transcribing states.", "journal": "Nature structural & molecular biology", "date": "2021", "authors": "Girbig M, Misiaszek AD, Vorlander MK, Lafita A, Grotsch H, Baudin F, Bateman A, Muller CW", "evidence": [ { "database": "UniProtKB", "id": "P05423", "url": "https://www.uniprot.org/uniprot/P05423" } ], "reference": [ { "type": "PubMed", "id": "33558764", "url": "https://glygen.org/publication/PubMed/33558764" } ] }, { "title": "Structural insights into transcriptional regulation of human RNA polymerase III.", "journal": "Nat. Struct. Mol. 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