{ "uniprot_canonical_ac": "O75569-1", "uniprot_ac": "O75569", "uniprot_id": "PRKRA_HUMAN", "mass": { "chemical_mass": 34404.0, "monoisotopic_mass": 34404.0 }, "refseq": { "ac": "NP_001132989", "name": "interferon-inducible double-stranded RNA-dependent protein kinase activator A isoform 2", "summary": "This gene encodes a protein kinase activated by double-stranded RNA which mediates the effects of interferon in response to viral infection. Mutations in this gene have been associated with dystonia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132989" }, "gene_names": [ { "name": "PRKRA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75569", "id": "O75569" }, { "name": "DYT16; HSD14; PACT; RAX", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132989", "id": "NP_001132989" }, { "name": "HSD-14", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75569", "id": "O75569" }, { "name": "HSD14", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75569", "id": "O75569" }, { "name": "PACT", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75569", "id": "O75569" }, { "name": "PRKRA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132989", "id": "NP_001132989" }, { "name": "RAX", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75569", "id": "O75569" }, { "name": "hCG_43233", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75569", "id": "O75569" } ], "protein_names": [ { "name": "Interferon-inducible double-stranded RNA-dependent protein kinase activator A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75569" }, { "name": "PKR-associated protein X", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75569" }, { "name": "PKR-associating protein X", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75569" }, { "name": "Protein activator of the interferon-induced protein kinase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75569" }, { "name": "Protein kinase, interferon-inducible double-stranded RNA-dependent activator", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75569" }, { "name": "interferon-inducible double-stranded RNA-dependent protein kinase activator A isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132989", "id": "NP_001132989" }, { "name": "protein activator of the interferon-induced protein kinase; PKR-associated protein X; PKR-associating protein X; interferon-inducible double-stranded RNA-dependent protein kinase activator A; protein kinase, interferon-inducible double-stranded RNA-dependent activator", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132989", "id": "NP_001132989" } ], "function": [ { "annotation": "Activates EIF2AK2/PKR in the absence of double-stranded RNA (dsRNA), leading to phosphorylation of EIF2S1/EFI2-alpha and inhibition of translation and induction of apoptosis. Required for siRNA production by DICER1 and for subsequent siRNA-mediated post-transcriptional gene silencing. Does not seem to be required for processing of pre-miRNA to miRNA by DICER1. Promotes UBC9-p53/TP53 association and sumoylation and phosphorylation of p53/TP53 at 'Lys-386' at 'Ser-392' respectively and enhances its activity in a EIF2AK2/PKR-dependent manner (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O75569", "url": "https://www.uniprot.org/uniprot/O75569#function" }, { "database": "PubMed", "id": "16424907", "url": "https://glygen.org/publication/PubMed/16424907" }, { "database": "PubMed", "id": "10336432", "url": "https://glygen.org/publication/PubMed/10336432" }, { "database": "PubMed", "id": "9687506", "url": "https://glygen.org/publication/PubMed/9687506" }, { "database": "PubMed", "id": "17452327", "url": "https://glygen.org/publication/PubMed/17452327" }, { "database": "PubMed", "id": "11238927", "url": "https://glygen.org/publication/PubMed/11238927" }, { "database": "PubMed", "id": "16982605", "url": "https://glygen.org/publication/PubMed/16982605" } ] }, { "annotation": "DYT-PRKRA Mutation P222L Enhances PACT's Stimulatory Activity on Type I Interferon Induction. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001132989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132989" }, { "database": "PubMed", "id": "35625640", "url": "https://glygen.org/publication/PubMed/35625640" } ] }, { "annotation": "PACT inhibits the replication of SARS-CoV-2 through the blockage of GSK-3beta-N-nsp3 cascade.", "evidence": [ { "database": "RefSeq", "id": "NP_001132989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132989" }, { "database": "PubMed", "id": "37264691", "url": "https://glygen.org/publication/PubMed/37264691" } ] }, { "annotation": "PACT promotes the metastasis of basal-like breast cancer through Rac1 SUMOylation and activation.", "evidence": [ { "database": "RefSeq", "id": "NP_001132989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132989" }, { "database": "PubMed", "id": "35974143", "url": "https://glygen.org/publication/PubMed/35974143" } ] }, { "annotation": "This gene encodes a protein kinase activated by double-stranded RNA which mediates the effects of interferon in response to viral infection. Mutations in this gene have been associated with dystonia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001132989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132989" } ] } ], "disease": [ { "disease_id": "DOID:0090048", "recommended_name": { "id": "DOID:0090048", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090048", "name": "dystonia 16", "description": "A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31." }, "synonyms": [ { "id": "MONDO:0012789", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012789", "name": "dystonia 16", "description": "Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." }, { "id": "MONDO:0012789", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012789", "name": "DYT-PRKRA", "description": "" }, { "id": "MONDO:0012789", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012789", "name": "DYT16", "description": "" }, { "id": "MONDO:0012789", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012789", "name": "PRKRA dystonic disorder", "description": "" }, { "id": "MONDO:0012789", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012789", "name": "dystonia 16", "description": "" }, { "id": "MONDO:0012789", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012789", "name": "dystonia type 16", "description": "" }, { "id": "MONDO:0012789", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012789", "name": "dystonic disorder caused by mutation in PRKRA", "description": "" }, { "id": "MONDO:0012789", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012789", "name": "early-onset dystonia parkinsonism", "description": "" }, { "id": "MONDO:0012789", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012789", "name": "Young-onset dystonia-(parkinsonism)", "description": "" }, { "id": "MIM:612067", "resource": "MIM", "url": "https://www.omim.org/entry/612067", "name": "Dystonia 16", "description": "Dystonia 16" } ], "evidence": [ { "id": "612067", "database": "MIM", "url": "https://www.omim.org/entry/612067" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 18, "end_pos": 18, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on apoptosis induction under conditions of stress.", "evidence": [ { "database": "UniProtKB", "id": "O75569", "url": "https://www.uniprot.org/uniprot/O75569" }, { "database": "PubMed", "id": "16982605", "url": "https://glygen.org/publication/PubMed/16982605" } ] }, { "start_pos": 18, "end_pos": 18, "sequence_org": "S", "sequence_mut": "D", "comment": "Does not induce apoptosis.", "evidence": [ { "database": "UniProtKB", "id": "O75569", "url": "https://www.uniprot.org/uniprot/O75569" }, { "database": "PubMed", "id": "16982605", "url": "https://glygen.org/publication/PubMed/16982605" } ] }, { "start_pos": 243, "end_pos": 243, "sequence_org": "Q", "sequence_mut": "A", "comment": "Abrogates apoptosis induction under conditions of stress.", "evidence": [ { "database": "UniProtKB", "id": "O75569", "url": "https://www.uniprot.org/uniprot/O75569" }, { "database": "PubMed", "id": "16982605", "url": "https://glygen.org/publication/PubMed/16982605" } ] }, { "start_pos": 246, "end_pos": 246, "sequence_org": "S", "sequence_mut": "A", "comment": "Abrogates apoptosis induction under conditions of stress and binding to EIF2AK2. Prevents activation of EIF2AK2 in stressed cells; when associated with A-287.", "evidence": [ { "database": "UniProtKB", "id": "O75569", "url": "https://www.uniprot.org/uniprot/O75569" }, { "database": "PubMed", "id": "16982605", "url": "https://glygen.org/publication/PubMed/16982605" } ] }, { "start_pos": 246, "end_pos": 246, "sequence_org": "S", "sequence_mut": "D", "comment": "Induces activation of EIF2AK2 and apoptosis in unstressed cells; when associated with D-287.", "evidence": [ { "database": "UniProtKB", "id": "O75569", "url": "https://www.uniprot.org/uniprot/O75569" }, { "database": "PubMed", "id": "16982605", "url": "https://glygen.org/publication/PubMed/16982605" } ] }, { "start_pos": 260, "end_pos": 260, "sequence_org": "D", "sequence_mut": "A", "comment": "Abrogates apoptosis induction under conditions of stress.", "evidence": [ { "database": "UniProtKB", "id": "O75569", "url": "https://www.uniprot.org/uniprot/O75569" }, { "database": "PubMed", "id": "16982605", "url": "https://glygen.org/publication/PubMed/16982605" } ] }, { "start_pos": 262, "end_pos": 262, "sequence_org": "D", "sequence_mut": "A", "comment": "Abrogates apoptosis induction under conditions of stress.", "evidence": [ { "database": "UniProtKB", "id": "O75569", "url": "https://www.uniprot.org/uniprot/O75569" }, { "database": "PubMed", "id": "16982605", "url": "https://glygen.org/publication/PubMed/16982605" } ] }, { "start_pos": 265, "end_pos": 265, "sequence_org": "S", "sequence_mut": "A", "comment": "Abrogates apoptosis induction under conditions of stress.", "evidence": [ { "database": "UniProtKB", "id": "O75569", "url": "https://www.uniprot.org/uniprot/O75569" }, { "database": "PubMed", "id": "16982605", "url": "https://glygen.org/publication/PubMed/16982605" } ] }, { "start_pos": 271, "end_pos": 271, "sequence_org": "Q", "sequence_mut": "A", "comment": "Abrogates apoptosis induction under conditions of stress.", "evidence": [ { "database": "UniProtKB", "id": "O75569", "url": "https://www.uniprot.org/uniprot/O75569" }, { "database": "PubMed", "id": "16982605", "url": "https://glygen.org/publication/PubMed/16982605" } ] }, { "start_pos": 279, "end_pos": 279, "sequence_org": "S", "sequence_mut": "A", "comment": "Abrogates apoptosis induction under conditions of stress.", "evidence": [ { "database": "UniProtKB", "id": "O75569", "url": "https://www.uniprot.org/uniprot/O75569" }, { "database": "PubMed", "id": "16982605", "url": "https://glygen.org/publication/PubMed/16982605" } ] }, { "start_pos": 287, "end_pos": 287, "sequence_org": "S", "sequence_mut": "A", "comment": "Abrogates apoptosis induction under conditions of stress. Prevents activation of EIF2AK2 in stressed cells; when associated with A-246.", "evidence": [ { "database": "UniProtKB", "id": "O75569", "url": "https://www.uniprot.org/uniprot/O75569" }, { "database": "PubMed", "id": "16982605", "url": "https://glygen.org/publication/PubMed/16982605" } ] }, { "start_pos": 287, "end_pos": 287, "sequence_org": "S", "sequence_mut": "D", "comment": "Induces activation of EIF2AK2 and apoptosis in unstressed cells; when associated with D-246.", "evidence": [ { "database": "UniProtKB", "id": "O75569", "url": "https://www.uniprot.org/uniprot/O75569" }, { "database": "PubMed", "id": "16982605", "url": "https://glygen.org/publication/PubMed/16982605" } ] }, { "start_pos": 288, "end_pos": 288, "sequence_org": "G", "sequence_mut": "A", "comment": "Abrogates apoptosis induction under conditions of stress.", "evidence": [ { "database": "UniProtKB", "id": "O75569", "url": "https://www.uniprot.org/uniprot/O75569" }, { "database": "PubMed", "id": "16982605", "url": "https://glygen.org/publication/PubMed/16982605" } ] }, { "start_pos": 291, "end_pos": 291, "sequence_org": "C", "sequence_mut": "A", "comment": "Abrogates apoptosis induction under conditions of stress.", "evidence": [ { "database": "UniProtKB", "id": "O75569", "url": "https://www.uniprot.org/uniprot/O75569" }, { "database": "PubMed", "id": "16982605", "url": "https://glygen.org/publication/PubMed/16982605" } ] }, { "start_pos": 298, "end_pos": 299, "sequence_org": "AA", "sequence_mut": "KK", "comment": "Abrogates interaction with DICER1 but does not affect interaction with AGO2.", "evidence": [ { "database": "UniProtKB", "id": "O75569", "url": "https://www.uniprot.org/uniprot/O75569" }, { "database": "PubMed", "id": "16424907", "url": "https://glygen.org/publication/PubMed/16424907" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "86.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000180228", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180228" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "91.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000180228", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180228" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "86.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000180228", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180228" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "82.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000180228", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180228" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "94.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000180228", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180228" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "93.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000180228", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180228" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "88.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000180228", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180228" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "94.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000180228", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180228" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "92.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000180228", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180228" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "88.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000180228", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180228" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "89.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000180228", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180228" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "93.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000180228", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180228" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "93.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000180228", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180228" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75569", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75569" } ], "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", 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"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, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75569", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75569" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75569", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75569" } ], "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", 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"UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V5C2-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V5C2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V5H3", "url": "https://www.uniprot.org/uniprot/A0A7I2V5H3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V5H3-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V5H3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2YQ87", "url": "https://www.uniprot.org/uniprot/A0A7I2YQ87", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2YQ87-1", "url": "https://www.uniprot.org/uniprot/A0A7I2YQ87-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2YQP2", "url": "https://www.uniprot.org/uniprot/A0A7I2YQP2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2YQP2-1", "url": "https://www.uniprot.org/uniprot/A0A7I2YQP2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B4DJC7", 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GN=PRKRA PE=1 SV=1 CANONICAL=O75569-1" }, "isoforms": [ { "isoform_ac": "A0A7I2V2I8-1", "url": "", "sequence": { "sequence": "MQVFGELNFFVFSSSKISWLSFAVPDPLMPDPSKQPKNQLNPIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYTTICRLESFMETGKGASKKQAKRNAAEKFLAKFSNISPENHISLTNVVGHSLGCTWHSLRNSPGEKINLLKRSLLSIPNTDYIQLLSEIAKEQGFNITYLDIDELSANGQYQCLAELSTSPITVCHGSGISCGNAQSDAAHNALQYLKIIAERK", "length": 228, "header": "tr|A0A7I2V2I8-1|A0A7I2V2I8_HUMAN Computationally mapped isoform of Protein activator of interferon induced protein kinase EIF2AK2 OS=Homo sapiens OX=9606 GN=PRKRA PE=1 SV=1 CANONICAL=O75569-1" }, "locus": { "chromosome": "2", "start_pos": 178447517, "end_pos": 178432100, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677689.1", "url": "https://www.ensembl.org/id/ENST00000677689.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502919.1", "url": "https://www.ensembl.org/id/ENSP00000502919.1" } ] } }, { "isoform_ac": "A0A7I2V2P4-1", "url": "", "sequence": { "sequence": "MQSTPFCGFCSLGKMITAKPGKTPIQVLHEYGMKTKNIPVYECERSDVQIHVPTFTFRVTVGDITCTGEGTSKKLAKHRAAEAAINILKANASI", "length": 94, "header": "tr|A0A7I2V2P4-1|A0A7I2V2P4_HUMAN Computationally mapped isoform of Protein activator of interferon induced protein kinase EIF2AK2 OS=Homo sapiens OX=9606 GN=PRKRA PE=1 SV=1 CANONICAL=O75569-1" }, "locus": { "chromosome": "2", "start_pos": 178450443, "end_pos": 178447505, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677206.1", "url": "https://www.ensembl.org/id/ENST00000677206.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503034.1", "url": "https://www.ensembl.org/id/ENSP00000503034.1" } ] } }, { "isoform_ac": "A0A7I2V315-1", "url": "", "sequence": { "sequence": "VYECERSDVQIHVPTFTFRVTVGDITCTGEGTSKKLAKHRAAEAAINILKANLCSS", "length": 56, "header": "tr|A0A7I2V315-1|PRKRA_HUMAN Computationally mapped isoform of Interferon-inducible double-stranded RNA-dependent protein kinase activator A OS=Homo sapiens OX=9606 GN=PRKRA PE=1 SV=1 CANONICAL=O75569-1" }, "locus": { "chromosome": "2", "start_pos": 178450326, "end_pos": 178444489, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678058.1", "url": "https://www.ensembl.org/id/ENST00000678058.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503203.1", "url": "https://www.ensembl.org/id/ENSP00000503203.1" } ] } }, { "isoform_ac": "A0A7I2V332-1", "url": "", "sequence": { "sequence": "MSQSRHRAEAPPLEREDSGTFSLGKMITAKPGKTPIQVKVQVRSWRNIELQRLP", "length": 54, "header": "tr|A0A7I2V332-1|PRKRA_HUMAN Computationally mapped isoform of Interferon-inducible double-stranded RNA-dependent protein kinase activator A OS=Homo sapiens OX=9606 GN=PRKRA PE=1 SV=1 CANONICAL=O75569-1" }, "locus": { "chromosome": "2", "start_pos": 178451030, "end_pos": 178447536, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676832.1", "url": "https://www.ensembl.org/id/ENST00000676832.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503231.1", "url": "https://www.ensembl.org/id/ENSP00000503231.1" } ] } }, { "isoform_ac": "A0A7I2V3J2-1", "url": "", "sequence": { "sequence": "MSQSRHRAEAPPLEREDSGTFSFAVPDPLMPDPSKQPKNQLNPIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYTTICRLESFMETGKGASKKQAKRNAAEKFLAKFSNISPENHISLTNVVGHSLGCTWHSLRNSPGEKINLLKRSLLSIPNTDYIQLLSEIAKEQGFNITYLDIDELSANGQYQCLAELSTSPITVCHGSGISCGNAQSDAAHNALQYLKIIAERK", "length": 229, "header": "tr|A0A7I2V3J2-1|PRKRA_HUMAN Computationally mapped isoform of Interferon-inducible double-stranded RNA-dependent protein kinase activator A OS=Homo sapiens OX=9606 GN=PRKRA PE=1 SV=1 CANONICAL=O75569-1" }, "locus": { "chromosome": "2", "start_pos": 178451030, "end_pos": 178432100, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677981.1", "url": "https://www.ensembl.org/id/ENST00000677981.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503536.1", "url": "https://www.ensembl.org/id/ENSP00000503536.1" } ] } }, { "isoform_ac": "A0A7I2V3L6-1", "url": "", "sequence": { "sequence": "MSQSRHRAEAPPLEREDSGTFSLGKMITAKPGKTPIQVLHEYGMKTKNIPVYECERSDVQIHVPTFTFRVTVGDITCTGEGTSKKLAKHRAAEAAINILKANASIW", "length": 106, "header": "tr|A0A7I2V3L6-1|PRKRA_HUMAN Computationally mapped isoform of Interferon-inducible double-stranded RNA-dependent protein kinase activator A OS=Homo sapiens OX=9606 GN=PRKRA PE=1 SV=1 CANONICAL=O75569-1" }, "locus": { "chromosome": "2", "start_pos": 178451030, "end_pos": 178447504, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678167.1", "url": "https://www.ensembl.org/id/ENST00000678167.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504479.1", "url": "https://www.ensembl.org/id/ENSP00000504479.1" } ] } }, { "isoform_ac": "A0A7I2V593-1", "url": "", "sequence": { "sequence": "XSDVQIHVPTFTFRVTVGDITCTGEGTSKKLAKHRAAEAAINILKANASICFAVPDPLMPDPSKQPKNQLNPIGSLQPHLDFIGIGYSSWLETS", "length": 94, "header": "tr|A0A7I2V593-1|PRKRA_HUMAN Computationally mapped isoform of Interferon-inducible double-stranded RNA-dependent protein kinase activator A OS=Homo sapiens OX=9606 GN=PRKRA PE=1 SV=1 CANONICAL=O75569-1" }, "locus": { "chromosome": "2", "start_pos": 178450310, "end_pos": 178443352, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677859.1", "url": "https://www.ensembl.org/id/ENST00000677859.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504465.1", "url": "https://www.ensembl.org/id/ENSP00000504465.1" } ] } }, { "isoform_ac": "A0A7I2V5C2-1", "url": "", "sequence": { "sequence": "MSQSRHRAEAPPLEREDSGTFSLGKMITAKPGKTPIQVLHEYGMKTKNIPVYECERSDVQIHVPTFTFRVTVGDITCTGEGTSKKLAKHRAAEAAINILKANLCSS", "length": 106, "header": "tr|A0A7I2V5C2-1|PRKRA_HUMAN Computationally mapped isoform of Interferon-inducible double-stranded RNA-dependent protein kinase activator A OS=Homo sapiens OX=9606 GN=PRKRA PE=1 SV=1 CANONICAL=O75569-1" }, "locus": { "chromosome": "2", "start_pos": 178451030, "end_pos": 178444489, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000679037.1", "url": "https://www.ensembl.org/id/ENST00000679037.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504421.1", "url": "https://www.ensembl.org/id/ENSP00000504421.1" } ] } }, { "isoform_ac": "A0A7I2V5H3-1", "url": "", "sequence": { "sequence": "MSQSRHRAEAPPLEREDSGTFSLGKMITAKPGKTPIQVLHEYGMKTKNIPVYECERSDVQIHVPTFTFRVTVGDITCTGEGTSKKLAKHRAAEAAINILKANASICFAVPDPLMPDPSKQPKNQLNPIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYTTICRLESFMETDKCSRTFFRMYLAFLEEFSW", "length": 191, "header": "tr|A0A7I2V5H3-1|A0A7I2V5H3_HUMAN Computationally mapped isoform of Protein activator of interferon induced protein kinase EIF2AK2 OS=Homo sapiens OX=9606 GN=PRKRA PE=1 SV=1 CANONICAL=O75569-1" }, "locus": { "chromosome": "2", "start_pos": 178451030, "end_pos": 178436261, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677460.1", "url": "https://www.ensembl.org/id/ENST00000677460.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504507.1", "url": "https://www.ensembl.org/id/ENSP00000504507.1" } ] } }, { "isoform_ac": "A0A7I2YQ87-1", "url": "", "sequence": { "sequence": "MSQSRHRAEAPPLEREDSGTFSLGKMITAKPGKTPIQVLHEYGMKTKNIPVYECERSDVQIHVPTFTFRVTVGDITCTGEGTSKKLAKHRAAEAAINILKANASICFAVPDPLMPDPSKQPKNQLNPIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYTTICRKGGIKKASQKECC", "length": 177, "header": "tr|A0A7I2YQ87-1|PRKRA_HUMAN Computationally mapped isoform of Interferon-inducible double-stranded RNA-dependent protein kinase activator A OS=Homo sapiens OX=9606 GN=PRKRA PE=1 SV=1 CANONICAL=O75569-1" }, "locus": { "chromosome": "2", "start_pos": 178451030, "end_pos": 178441665, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677386.1", "url": "https://www.ensembl.org/id/ENST00000677386.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503003.1", "url": "https://www.ensembl.org/id/ENSP00000503003.1" } ] } }, { "isoform_ac": "A0A7I2YQP2-1", "url": "", "sequence": { "sequence": "MQSTPFCGFCSLGKMITAKPGKTPIQVKVQVRSWRNIELQRLP", "length": 43, "header": "tr|A0A7I2YQP2-1|A0A7I2YQP2_HUMAN Computationally mapped isoform of Protein activator of interferon induced protein kinase EIF2AK2 OS=Homo sapiens OX=9606 GN=PRKRA PE=1 SV=1 CANONICAL=O75569-1" }, "locus": { "chromosome": "2", "start_pos": 178450443, "end_pos": 178447536, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676505.1", "url": "https://www.ensembl.org/id/ENST00000676505.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504163.1", "url": "https://www.ensembl.org/id/ENSP00000504163.1" } ] } }, { "isoform_ac": "B4DJC7-1", "url": "", "sequence": { "sequence": "MPDPSKQPKNQLNPIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYTTICRLESFMETGKGASKKQAKRNAAEKFLAKFSNISPENHISLTNVVGHSLGCTWHSLRNSPGEKINLLKRSLLSIPNTDYIQLLSEIAKEQGFNITYLDIDELSANGQYQCLAELSTSPITVCHGSGISCGNAQSDAAHNALQYLKIIAERK", "length": 200, "header": "tr|B4DJC7-1|PRKRA_HUMAN Computationally mapped isoform of Interferon-inducible double-stranded RNA-dependent protein kinase activator A OS=Homo sapiens OX=9606 GN=PRKRA PE=1 SV=1 CANONICAL=O75569-1" }, "locus": { "chromosome": "2", "start_pos": 178444478, "end_pos": 178432100, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678775.1", "url": "https://www.ensembl.org/id/ENST00000678775.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504030.1", "url": "https://www.ensembl.org/id/ENSP00000504030.1" } ] } }, { "isoform_ac": "C9JMM3-1", "url": "", "sequence": { "sequence": "MQSTPFCGFCSLGKMITAKPGKTPIQVLHEYGMKTKNIPVYECERSDVQIHVPTFTFRVTVGDITCTGEGTSKKLAKHRAAEAAINILKANASIWNWLFIMAGDFLNIPFPRREDLLIRENILQFAG", "length": 127, "header": "tr|C9JMM3-1|PRKRA_HUMAN Computationally mapped isoform of Interferon-inducible double-stranded RNA-dependent protein kinase activator A OS=Homo sapiens OX=9606 GN=PRKRA PE=1 SV=9 CANONICAL=O75569-1" }, "locus": { "chromosome": "2", "start_pos": 178450443, "end_pos": 178443288, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000457633.2", "url": "https://www.ensembl.org/id/ENST00000457633.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000408668.2", "url": "https://www.ensembl.org/id/ENSP00000408668.2" } ] } }, { "isoform_ac": "F8WEG8-1", "url": "", "sequence": { "sequence": "MQSTPFCGFCSLGKMITAKPGKTPIQVLHEYGMKTKNIPVYECERSDVQIHVPTFTFRVTVGDITCTGEGTSKKLAKHRAAEAAINILKANASIW", "length": 95, "header": "tr|F8WEG8-1|PRKRA_HUMAN Computationally mapped isoform of Interferon-inducible double-stranded RNA-dependent protein kinase activator A OS=Homo sapiens OX=9606 GN=PRKRA PE=1 SV=1 CANONICAL=O75569-1" }, "locus": { "chromosome": "2", "start_pos": 178450443, "end_pos": 178447504, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000448279.2", "url": "https://www.ensembl.org/id/ENST00000448279.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000388455.1", "url": "https://www.ensembl.org/id/ENSP00000388455.1" } ] } }, { "isoform_ac": "G5E9Q4-1", "url": "", "sequence": { "sequence": "MSQSRHRAEAPPLEREDSGTFSLGKMITAKPGKTPIQVLHEYGMKTKNIPVYECERSDVQIHVPTFTFRVTVGDITCTGEGTSKKLAKHRAAEAAINILKANASI", "length": 105, "header": "tr|G5E9Q4-1|PRKRA_HUMAN Computationally mapped isoform of Interferon-inducible double-stranded RNA-dependent protein kinase activator A OS=Homo sapiens OX=9606 GN=PRKRA PE=1 SV=1 CANONICAL=O75569-1" }, "locus": { "chromosome": "2", "start_pos": 178451030, "end_pos": 178447505, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000424699.5", "url": "https://www.ensembl.org/id/ENST00000424699.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000408029.1", "url": "https://www.ensembl.org/id/ENSP00000408029.1" } ] } }, { "isoform_ac": "O75569-1", "url": "", "sequence": { "sequence": "MSQSRHRAEAPPLEREDSGTFSLGKMITAKPGKTPIQVLHEYGMKTKNIPVYECERSDVQIHVPTFTFRVTVGDITCTGEGTSKKLAKHRAAEAAINILKANASICFAVPDPLMPDPSKQPKNQLNPIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYTTICRLESFMETGKGASKKQAKRNAAEKFLAKFSNISPENHISLTNVVGHSLGCTWHSLRNSPGEKINLLKRSLLSIPNTDYIQLLSEIAKEQGFNITYLDIDELSANGQYQCLAELSTSPITVCHGSGISCGNAQSDAAHNALQYLKIIAERK", "length": 313, "header": "sp|O75569-1|PRKRA_HUMAN Isoform 1 of Interferon-inducible double-stranded RNA-dependent protein kinase activator A OS=Homo sapiens OX=9606 GN=PRKRA PE=1 SV=1 CANONICAL=O75569-1" }, "locus": { "chromosome": "2", "start_pos": 178451030, "end_pos": 178432100, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000325748.9", "url": "https://www.ensembl.org/id/ENST00000325748.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000318176.4", "url": "https://www.ensembl.org/id/ENSP00000318176.4" } ] } }, { "isoform_ac": "O75569-2", "url": "", "sequence": { "sequence": "MQSTPFCGFCSLGKMITAKPGKTPIQVLHEYGMKTKNIPVYECERSDVQIHVPTFTFRVTVGDITCTGEGTSKKLAKHRAAEAAINILKANASICFAVPDPLMPDPSKQPKNQLNPIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYTTICRLESFMETGKGASKKQAKRNAAEKFLAKFSNISPENHISLTNVVGHSLGCTWHSLRNSPGEKINLLKRSLLSIPNTDYIQLLSEIAKEQGFNITYLDIDELSANGQYQCLAELSTSPITVCHGSGISCGNAQSDAAHNALQYLKIIAERK", "length": 302, "header": "sp|O75569-2|PRKRA_HUMAN Isoform 2 of Interferon-inducible double-stranded RNA-dependent protein kinase activator A OS=Homo sapiens OX=9606 GN=PRKRA PE=1 SV=1 CANONICAL=O75569-1" }, "locus": { "chromosome": "2", "start_pos": 178450443, "end_pos": 178432100, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000432031.6", "url": "https://www.ensembl.org/id/ENST00000432031.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000393883.2", "url": "https://www.ensembl.org/id/ENSP00000393883.2" } ] } }, { "isoform_ac": "O75569-3", "url": "", "sequence": { "sequence": "MITAKPGKTPIQVLHEYGMKTKNIPVYECERSDVQIHVPTFTFRVTVGDITCTGEGTSKKLAKHRAAEAAINILKANASICFAVPDPLMPDPSKQPKNQLNPIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYTTICRLESFMETGKGASKKQAKRNAAEKFLAKFSNISPENHISLTNVVGHSLGCTWHSLRNSPGEKINLLKRSLLSIPNTDYIQLLSEIAKEQGFNITYLDIDELSANGQYQCLAELSTSPITVCHGSGISCGNAQSDAAHNALQYLKIIAERK", "length": 288, "header": "sp|O75569-3|PRKRA_HUMAN Isoform 3 of Interferon-inducible double-stranded RNA-dependent protein kinase activator A OS=Homo sapiens OX=9606 GN=PRKRA PE=1 SV=1 CANONICAL=O75569-1" }, "locus": { "chromosome": "2", "start_pos": 178450401, "end_pos": 178432100, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000487082.5", "url": "https://www.ensembl.org/id/ENST00000487082.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000430604.1", "url": "https://www.ensembl.org/id/ENSP00000430604.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O75569", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75569" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [ { "start_pos": 167, "end_pos": 167, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75569", "url": "https://www.uniprot.org/uniprot/O75569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75569" } ], "site_lbl": "Ser167" }, { "start_pos": 18, "end_pos": 18, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75569", "url": "https://www.uniprot.org/uniprot/O75569" }, { "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": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O75569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75569" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" }, { "database": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "PubMed", "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923" }, { "database": "PubMed", "id": "27920218", "url": "" }, { "database": "phospho.ELM", "id": "O75569", "url": "http://phospho.elm.eu.org/byAccession/O75569.html" } ], "site_lbl": "Ser18" }, { "start_pos": 20, "end_pos": 20, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75569" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923" }, { "database": "PubMed", "id": "27920218", "url": "" }, { "database": "phospho.ELM", "id": "O75569", "url": "http://phospho.elm.eu.org/byAccession/O75569.html" } ], "site_lbl": "Thr20" }, { "start_pos": 22, "end_pos": 22, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75569" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923" } ], "site_lbl": "Ser22" }, { "start_pos": 246, "end_pos": 246, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75569", "url": "https://www.uniprot.org/uniprot/O75569" }, { "database": "PubMed", "id": "16982605", "url": "https://glygen.org/publication/PubMed/16982605" }, { "database": "iPTMnet", "id": "O75569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75569" }, { "database": "PubMed", "id": "22473766", "url": "https://glygen.org/publication/PubMed/22473766" } ], "site_lbl": "Ser246" }, { "start_pos": 287, "end_pos": 287, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75569", "url": "https://www.uniprot.org/uniprot/O75569" }, { "database": "PubMed", "id": "16982605", "url": "https://glygen.org/publication/PubMed/16982605" }, { "database": "iPTMnet", "id": "O75569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75569" }, { "database": "PubMed", "id": "21526770", "url": "https://glygen.org/publication/PubMed/21526770" }, { "database": "PubMed", "id": "22473766", "url": "https://glygen.org/publication/PubMed/22473766" } ], "site_lbl": "Ser287" }, { "start_pos": 34, "end_pos": 34, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75569" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr34" }, { "start_pos": 71, "end_pos": 71, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75569" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr71" }, { "start_pos": 78, "end_pos": 78, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75569", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75569" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr78" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Double-stranded-RNA-activated protein kinase PKR enhances transcriptional activation by tumor suppressor p53.", "journal": "Molecular and cellular biology", "date": "1999-04", "authors": "Cuddihy A R, Li S, Tam N W, Wong A H, Taya Y, Abraham N, Bell J C, Koromilas A E", "evidence": [ { "database": "Reactome", 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