{ "uniprot_canonical_ac": "P0CG47-1", "uniprot_ac": "P0CG47", "uniprot_id": "UBB_HUMAN", "mass": { "chemical_mass": 25762.0, "monoisotopic_mass": 25762.0 }, "refseq": { "ac": "NP_001268645", "name": "polyubiquitin-B precursor", "summary": "This gene encodes ubiquitin, one of the most conserved proteins known. Ubiquitin has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene consists of three direct repeats of the ubiquitin coding sequence with no spacer sequence. Consequently, the protein is expressed as a polyubiquitin precursor with a final amino acid after the last repeat. An aberrant form of this protein has been detected in patients with Alzheimer's disease and Down syndrome. Pseudogenes of this gene are located on chromosomes 1, 2, 13, and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268645" }, "gene_names": [ { "name": "UBB", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0CG47", "id": "P0CG47" }, { "name": "HEL-S-50", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268645", "id": "NP_001268645" }, { "name": "UBB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268645", "id": "NP_001268645" } ], "protein_names": [ { "name": "Polyubiquitin-B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P0CG47" }, { "name": "polyubiquitin B; epididymis secretory protein Li 50", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268645", "id": "NP_001268645" }, { "name": "polyubiquitin-B precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268645", "id": "NP_001268645" } ], "function": [ { "annotation": "Bioinformatics analysis of mRNA and miRNA microarray to identify the key miRNA-mRNA pairs in cisplatin-resistant ovarian cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001268645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268645" }, { "database": "PubMed", "id": "33892654", "url": "https://glygen.org/publication/PubMed/33892654" } ] }, { "annotation": "Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in proteotoxic stress response and cell cycle; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signaling processes leading to activation of the transcription factor NF-kappa-B. Linear polymer chains formed via attachment by the initiator Met lead to cell signaling. Ubiquitin is usually conjugated to Lys residues of target proteins, however, in rare cases, conjugation to Cys or Ser residues has been observed. When polyubiquitin is free (unanchored-polyubiquitin), it also has distinct roles, such as in activation of protein kinases, and in signaling.", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47#function" }, { "database": "PubMed", "id": "16543144", "url": "https://glygen.org/publication/PubMed/16543144" }, { "database": "PubMed", "id": "34239127", "url": "https://glygen.org/publication/PubMed/34239127" }, { "database": "PubMed", "id": "19754430", "url": "https://glygen.org/publication/PubMed/19754430" } ] }, { "annotation": "High Expression of UBB, RAC1, and ITGB1 Predicts Worse Prognosis among Nonsmoking Patients with Lung Adenocarcinoma through Bioinformatics Analysis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001268645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268645" }, { "database": "PubMed", "id": "33134373", "url": "https://glygen.org/publication/PubMed/33134373" } ] }, { "annotation": "This gene encodes ubiquitin, one of the most conserved proteins known. Ubiquitin has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene consists of three direct repeats of the ubiquitin coding sequence with no spacer sequence. Consequently, the protein is expressed as a polyubiquitin precursor with a final amino acid after the last repeat. An aberrant form of this protein has been detected in patients with Alzheimer's disease and Down syndrome. Pseudogenes of this gene are located on chromosomes 1, 2, 13, and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001268645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268645" } ] }, { "annotation": "UBB(+1) reduces amyloid-beta cytotoxicity by activation of autophagy in yeast.", "evidence": [ { "database": "RefSeq", "id": "NP_001268645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268645" }, { "database": "PubMed", "id": "34751669", "url": "https://glygen.org/publication/PubMed/34751669" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 48, "end_pos": 48, "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on HLTF-mediated polyubiquitination of PCNA.", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" }, { "database": "PubMed", "id": "18719106", "url": "https://glygen.org/publication/PubMed/18719106" } ] }, { "start_pos": 63, "end_pos": 63, "sequence_org": "K", "sequence_mut": "R", "comment": "Abolishes HLTF-mediated polyubiquitination of PCNA.", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" }, { "database": "PubMed", "id": "18719106", "url": "https://glygen.org/publication/PubMed/18719106" } ] }, { "start_pos": 65, "end_pos": 65, "sequence_org": "S", "sequence_mut": "A", "comment": "Prevents phosphorylation in case of mitophagy. Decreased localization of PRKN to mitochondria.", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" }, { "database": "PubMed", "id": "24784582", "url": "https://glygen.org/publication/PubMed/24784582" }, { "database": "PubMed", "id": "24751536", "url": "https://glygen.org/publication/PubMed/24751536" }, { "database": "PubMed", "id": "24660806", "url": "https://glygen.org/publication/PubMed/24660806" } ] }, { "start_pos": 65, "end_pos": 65, "sequence_org": "S", "sequence_mut": "D", "comment": "Phosphomimetic mutant that binds and activates PRKN.", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" }, { "database": "PubMed", "id": "24751536", "url": "https://glygen.org/publication/PubMed/24751536" } ] }, { "start_pos": 65, "end_pos": 65, "sequence_org": "S", "sequence_mut": "E", "comment": "Phosphomimetic mutant that binds and activates PRKN.", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" }, { "database": "PubMed", "id": "24751536", "url": "https://glygen.org/publication/PubMed/24751536" } ] }, { "start_pos": 68, "end_pos": 68, "sequence_org": "H", "sequence_mut": "G", "comment": "Loss of DTX3L-mediated polyubiquitination of histone H3 and H4.", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" }, { "database": "PubMed", "id": "28525742", "url": "https://glygen.org/publication/PubMed/28525742" } ] }, { "start_pos": 72, "end_pos": 72, "sequence_org": "R", "sequence_mut": "G", "comment": "No effect on ADP-ribosylation.", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" }, { "database": "PubMed", "id": "28525742", "url": "https://glygen.org/publication/PubMed/28525742" } ] }, { "start_pos": 72, "end_pos": 72, "sequence_org": "R", "sequence_mut": "K", "comment": "No effect on ADP-ribosylation, when associated with K-74.", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" }, { "database": "PubMed", "id": "28525742", "url": "https://glygen.org/publication/PubMed/28525742" } ] }, { "start_pos": 74, "end_pos": 74, "sequence_org": "R", "sequence_mut": "G", "comment": "No effect on ADP-ribosylation.", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" }, { "database": "PubMed", "id": "28525742", "url": "https://glygen.org/publication/PubMed/28525742" } ] }, { "start_pos": 74, "end_pos": 74, "sequence_org": "R", "sequence_mut": "K", "comment": "No effect on ADP-ribosylation, when associated with K-72.", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" }, { "database": "PubMed", "id": "28525742", "url": "https://glygen.org/publication/PubMed/28525742" } ] }, { "start_pos": 76, "end_pos": 76, "sequence_org": "G", "sequence_mut": "A", "comment": "Loss of ADP-ribosylation.", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" }, { "database": "PubMed", "id": "28525742", "url": "https://glygen.org/publication/PubMed/28525742" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "99.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170315", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170315" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "99.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170315", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170315" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "99.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170315", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170315" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "99.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170315", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170315" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170315", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170315" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "99.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170315", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170315" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "99.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170315", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170315" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "99.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170315", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170315" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "99.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170315", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170315" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "99.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170315", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170315" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "99.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170315", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170315" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "99.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170315", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170315" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "99.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170315", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170315" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P0CG47", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0CG47" } ], "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", 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"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 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"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", 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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 - 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"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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"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", 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"name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P0CG47", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0CG47" } ], "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": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P0CG47", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0CG47" } ], "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": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P0CG47", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0CG47" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P0CG47", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0CG47" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P0CG47", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0CG47" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P0CG47", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0CG47" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P0CG47", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0CG47" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", 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"MQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFVKTLTGKTITLEV", "length": 93, "header": "tr|J3QS39-1|J3QS39_HUMAN Computationally mapped isoform of Ubiquitin B OS=Homo sapiens OX=9606 GN=UBB PE=1 SV=1 CANONICAL=P0CG47-1" }, "locus": { "chromosome": "17", "start_pos": 16382186, "end_pos": 16381908, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000578706.5", "url": "https://www.ensembl.org/id/ENST00000578706.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000464510.1", "url": "https://www.ensembl.org/id/ENSP00000464510.1" } ] } }, { "isoform_ac": "J3QSA3-1", "url": "", "sequence": { "sequence": "MQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRL", "length": 43, "header": "tr|J3QSA3-1|UBB_HUMAN Computationally mapped isoform of Polyubiquitin-B OS=Homo sapiens OX=9606 GN=UBB PE=1 SV=1 CANONICAL=P0CG47-1" }, "locus": { "chromosome": "17", "start_pos": 16382036, "end_pos": 16381908, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000577958.1", "url": "https://www.ensembl.org/id/ENST00000577958.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000464594.1", "url": "https://www.ensembl.org/id/ENSP00000464594.1" } ] } }, { "isoform_ac": "P0CG47-1", "url": "", "sequence": { "sequence": "MQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGC", "length": 229, "header": "sp|P0CG47-1|UBB_HUMAN Isoform 1 of Polyubiquitin-B OS=Homo sapiens OX=9606 GN=UBB PE=1 SV=1 CANONICAL=P0CG47-1" }, "locus": { "chromosome": "17", "start_pos": 16382594, "end_pos": 16381908, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395837.1", "url": "https://www.ensembl.org/id/ENST00000395837.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000379178.1", "url": "https://www.ensembl.org/id/ENSP00000379178.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P0CG47", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P0CG47" }, { "id": "35008409", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35008409" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" } ] } ], "phosphorylation": [ { "start_pos": 65, "end_pos": 65, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PINK1", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" }, { "database": "iPTMnet", "id": "P0CG47", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P0CG47" }, { "database": "PubMed", "id": "24751536", "url": "https://glygen.org/publication/PubMed/24751536" }, { "database": "PubMed", "id": "24784582", "url": "https://glygen.org/publication/PubMed/24784582" }, { "database": "PubMed", "id": "25527291", "url": "https://glygen.org/publication/PubMed/25527291" }, { "database": "PubMed", "id": "24660806", "url": "https://glygen.org/publication/PubMed/24660806" } ], "site_lbl": "Ser65" }, { "start_pos": 9, "end_pos": 9, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P0CG47", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P0CG47" }, { "database": "PubMed", "id": "32357974", "url": "" } ], "site_lbl": "Thr9" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Smad3-Smad4 and AP-1 complexes synergize in transcriptional activation of the c-Jun promoter by transforming growth factor beta.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Wong C, Rougier-Chapman EM, Frederick JP, Datto MB, Liberati NT, Li JM, Wang XF", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "10022869", "url": "https://glygen.org/publication/PubMed/10022869" } ] }, { "title": "Activation of IkappaB kinase beta by protein kinase C isoforms.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Lallena MJ, Diaz-Meco MT, Bren G, Paya CV, Moscat J", "evidence": [ { "database": "Reactome", "id": "R-HSA-209560", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209560" } ], "reference": [ { "type": "PubMed", "id": "10022904", "url": "https://glygen.org/publication/PubMed/10022904" } ] }, { "title": "Identification and characterization of the human orthologue of yeast Pex14p.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Will GK, Soukupova M, Hong X, Erdmann KS, Kiel JA, Dodt G, Kunau WH, Erdmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "10022913", "url": "https://glygen.org/publication/PubMed/10022913" } ] }, { "title": "The human F box protein beta-Trcp associates with the Cul1/Skp1 complex and regulates the stability of beta-catenin.", "journal": "Oncogene", "date": "1999", "authors": "Latres E, Chiaur DS, Pagano M", "evidence": [ { "database": "Reactome", "id": "R-HSA-174113", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174113" } ], "reference": [ { "type": "PubMed", "id": "10023660", "url": "https://glygen.org/publication/PubMed/10023660" } ] }, { "title": "IkappaBalpha ubiquitination is catalyzed by an SCF-like complex containing Skp1, cullin-1, and two F-box/WD40-repeat proteins, betaTrCP1 and betaTrCP2.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Suzuki H, Chiba T, Kobayashi M, Takeuchi M, Suzuki T, Ichiyama A, Ikenoue T, Omata M, Furuichi K, Tanaka K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169091", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169091" } ], "reference": [ { "type": "PubMed", "id": "10066435", "url": "https://glygen.org/publication/PubMed/10066435" } ] }, { "title": "Inducible degradation of IkappaBalpha by the proteasome requires interaction with the F-box protein h-betaTrCP.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Kroll M, Margottin F, Kohl A, Renard P, Durand H, Concordet JP, Bachelerie F, Arenzana-Seisdedos F, Benarous R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9020702", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9020702" } ], "reference": [ { "type": "PubMed", "id": "10075690", "url": "https://glygen.org/publication/PubMed/10075690" } ] }, { "title": "Human ligands of the Notch receptor.", "journal": "The American journal of pathology", "date": "1999", "authors": "Gray GE, Mann RS, Mitsiadis E, Henrique D, Carcangiu ML, Banks A, Leiman J, Ward D, Ish-Horowitz D, Artavanis-Tsakonas S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013507", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013507" } ], "reference": [ { "type": "PubMed", "id": "10079256", "url": "https://glygen.org/publication/PubMed/10079256" } ] }, { "title": "Cloning and characterization of a mammalian prenyl protein-specific protease.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Otto JC, Kim E, Young SG, Casey PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9648002", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9648002" } ], "reference": [ { "type": "PubMed", "id": "10085068", "url": "https://glygen.org/publication/PubMed/10085068" } ] }, { "title": "Disruption of the mouse Rce1 gene results in defective Ras processing and mislocalization of Ras within cells.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Kim E, Ambroziak P, Otto JC, Taylor B, Ashby M, Shannon K, Casey PJ, Young SG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9648002", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9648002" } ], "reference": [ { "type": "PubMed", "id": "10085069", "url": "https://glygen.org/publication/PubMed/10085069" } ] }, { "title": "Noncanonical MMS2-encoded ubiquitin-conjugating enzyme functions in assembly of novel polyubiquitin chains for DNA repair.", "journal": "Cell", "date": "1999", "authors": "Hofmann RM, Pickart CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9646399", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9646399" } ], "reference": [ { "type": "PubMed", "id": "10089880", "url": "https://glygen.org/publication/PubMed/10089880" } ] }, { "title": "Regulation of beta-catenin signaling by the B56 subunit of protein phosphatase 2A.", "journal": "Science (New York, N.Y.)", "date": "1999", "authors": "Seeling JM, Miller JR, Gil R, Moon RT, White R, Virshup DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-195253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-195253" } ], "reference": [ { "type": "PubMed", "id": "10092233", "url": "https://glygen.org/publication/PubMed/10092233" } ] }, { "title": "The beta2-adrenergic receptor/betaarrestin complex recruits the clathrin adaptor AP-2 during endocytosis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Laporte SA, Oakley RH, Zhang J, Holt JA, Ferguson SS, Caron MG, Barak LS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856825", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825" } ], "reference": [ { "type": "PubMed", "id": "10097102", "url": "https://glygen.org/publication/PubMed/10097102" } ] }, { "title": "Constitutive and regulated alpha-secretase cleavage of Alzheimer's amyloid precursor protein by a disintegrin metalloprotease.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Lammich S, Kojro E, Postina R, Gilbert S, Pfeiffer R, Jasionowski M, Haass C, Fahrenholz F", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "10097139", "url": "https://glygen.org/publication/PubMed/10097139" } ] }, { "title": "CIPER, a novel NF kappaB-activating protein containing a caspase recruitment domain with homology to Herpesvirus-2 protein E10.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Koseki T, Inohara N, Chen S, Carrio R, Merino J, Hottiger MO, Nabel GJ, Nunez G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5607764", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5607764" } ], "reference": [ { "type": "PubMed", "id": "10187770", "url": "https://glygen.org/publication/PubMed/10187770" } ] }, { "title": "Phosphorylation of axin, a Wnt signal negative regulator, by glycogen synthase kinase-3beta regulates its stability.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Yamamoto H, Kishida S, Kishida M, Ikeda S, Takada S, Kikuchi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-195253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-195253" } ], "reference": [ { "type": "PubMed", "id": "10196136", "url": "https://glygen.org/publication/PubMed/10196136" } ] }, { "title": "A mechanism of repression of TGFbeta/ Smad signaling by oncogenic Ras.", "journal": "Genes & development", "date": "1999", "authors": "Kretzschmar M, Doody J, Timokhina I, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "10197981", "url": "https://glygen.org/publication/PubMed/10197981" } ] }, { "title": "beta-catenin can be transported into the nucleus in a Ran-unassisted manner.", "journal": "Molecular biology of the cell", "date": "1999", "authors": "Yokoya F, Imamoto N, Tachibana T, Yoneda Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-201681", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201681" } ], "reference": [ { "type": "PubMed", "id": "10198061", "url": "https://glygen.org/publication/PubMed/10198061" } ] }, { "title": "Molecular cloning and characterization of the human CLOCK gene: expression in the suprachiasmatic nuclei.", "journal": "Genomics", "date": "1999", "authors": "Steeves TD, King DP, Zhao Y, Sangoram AM, Du F, Bowcock AM, Moore RY, Takahashi JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-400253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400253" } ], "reference": [ { "type": "PubMed", "id": "10198158", "url": "https://glygen.org/publication/PubMed/10198158" } ] }, { "title": "A Smad transcriptional corepressor.", "journal": "Cell", "date": "1999", "authors": "Wotton D, Lo RS, Lee S, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "10199400", "url": "https://glygen.org/publication/PubMed/10199400" } ] }, { "title": "Control of mRNA decay by heat shock-ubiquitin-proteasome pathway.", "journal": "Science (New York, N.Y.)", "date": "1999", "authors": "Laroia G, Cuesta R, Brewer G, Schneider RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-450408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-450408" } ], "reference": [ { "type": "PubMed", "id": "10205060", "url": "https://glygen.org/publication/PubMed/10205060" } ] }, { "title": "A presenilin-1-dependent gamma-secretase-like protease mediates release of Notch intracellular domain.", "journal": "Nature", "date": "1999", "authors": "De Strooper B, Annaert W, Cupers P, Saftig P, Craessaerts K, Mumm JS, Schroeter EH, Schrijvers V, Wolfe MS, Ray WJ, Goate A, Kopan R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "10206645", "url": "https://glygen.org/publication/PubMed/10206645" } ] }, { "title": "Inhibition of T cell signaling by mitogen-activated protein kinase-targeted hematopoietic tyrosine phosphatase (HePTP).", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Saxena M, Williams S, Brockdorff J, Gilman J, Mustelin T", "evidence": [ { "database": "Reactome", "id": "R-HSA-5675221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5675221" } ], "reference": [ { "type": "PubMed", "id": "10206983", "url": "https://glygen.org/publication/PubMed/10206983" } ] }, { "title": "Cumulative effect of phosphorylation of pRB on regulation of E2F activity.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Brown VD, Phillips RA, Gallie BL", "evidence": [ { "database": "Reactome", "id": "R-HSA-69231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69231" } ], "reference": [ { "type": "PubMed", "id": "10207050", "url": "https://glygen.org/publication/PubMed/10207050" } ] }, { "title": "A Cbfa1-dependent genetic pathway controls bone formation beyond embryonic development.", "journal": "Genes & development", "date": "1999", "authors": "Ducy P, Starbuck M, Priemel M, Shen J, Pinero G, Geoffroy V, Amling M, Karsenty G", "evidence": [ { "database": "Reactome", "id": "R-HSA-8939902", 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Ito S, Wada T, Hayashida M, Lee L, Saijo M, Nakatsu Y, Matsumoto M, Matsunaga T, Handa H, Qin J, Nakatani Y, Tanaka K", "evidence": [ { "database": "Reactome", "id": "R-HSA-6781823", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6781823" } ], "reference": [ { "type": "PubMed", "id": "17981804", "url": "https://glygen.org/publication/PubMed/17981804" } ] }, { "title": "DUBA: a deubiquitinase that regulates type I interferon production.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Kayagaki N, Phung Q, Chan S, Chaudhari R, Quan C, O'Rourke KM, Eby M, Pietras E, Cheng G, Bazan JF, Zhang Z, Arnott D, Dixit VM", "evidence": [ { "database": "Reactome", "id": "R-HSA-936440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936440" } ], "reference": [ { "type": "PubMed", "id": "17991829", "url": "https://glygen.org/publication/PubMed/17991829" } ] }, { "title": "The molecular functions of Shp2 in the Ras/Mitogen-activated protein kinase (ERK1/2) pathway.", 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player in the early steps of protein N-glycosylation.", "journal": "Molecular biology of the cell", "date": "2008", "authors": "Schallus T, Jaeckh C, Feher K, Palma AS, Liu Y, Simpson JC, Mackeen M, Stier G, Gibson TJ, Feizi T, Pieler T, Muhle-Goll C", "evidence": [ { "database": "Reactome", "id": "R-HSA-532668", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-532668" } ], "reference": [ { "type": "PubMed", "id": "18524852", "url": "https://glygen.org/publication/PubMed/18524852" } ] }, { "title": "Hhat is a palmitoylacyltransferase with specificity for N-palmitoylation of Sonic Hedgehog.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Buglino JA, Resh MD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5358346", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5358346" } ], "reference": [ { "type": "PubMed", "id": "18534984", "url": "https://glygen.org/publication/PubMed/18534984" } ] }, { "title": "CHIP promotes Runx2 degradation and negatively regulates osteoblast differentiation.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Li X, Huang M, Zheng H, Wang Y, Ren F, Shang Y, Zhai Y, Irwin DM, Shi Y, Chen D, Chang Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-8939902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8939902" } ], "reference": [ { "type": "PubMed", "id": "18541707", "url": "https://glygen.org/publication/PubMed/18541707" } ] }, { "title": "Characterization of the topology and functional domains of RKTG.", "journal": "The Biochemical journal", "date": "2008", "authors": "Luo X, Feng L, Jiang X, Xiao F, Wang Z, Feng GS, Chen Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-5675221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5675221" } ], "reference": [ { "type": "PubMed", "id": "18547165", "url": "https://glygen.org/publication/PubMed/18547165" } ] }, { "title": "Chemokine signaling via the CXCR2 receptor reinforces senescence.", 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Zhou W, London WB, McGrady P, Xue L, Zozulya S, Gregor VE, Webb TR, Gray NS, Gilliland DG, Diller L, Greulich H, Morris SW, Meyerson M, Look AT", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "18923525", "url": "https://glygen.org/publication/PubMed/18923525" } ] }, { "title": "The COP9 signalosome: more than a protease.", "journal": "Trends in biochemical sciences", "date": "2008", "authors": "Wei N, Serino G, Deng XW", "evidence": [ { "database": "Reactome", "id": "R-HSA-8951664", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8951664" } ], "reference": [ { "type": "PubMed", "id": "18926707", "url": "https://glygen.org/publication/PubMed/18926707" } ] }, { "title": "FANCI phosphorylation functions as a molecular switch to turn on the Fanconi anemia pathway.", "journal": "Nature structural & molecular biology", "date": "2008", "authors": "Ishiai M, 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"https://www.uniprot.org/uniprot/P0CG47" } ], "pmid": "" }, { "name": "hypothalamus gonadotrophin-releasing hormone neuron development", "id": "GO:0021888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021888", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" } ], "pmid": "" }, { "name": "regulation of proteasomal protein catabolic process", "id": "GO:0061136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061136", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" } ], "pmid": "" }, { "name": "positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator", "id": "GO:1902255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902255", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 14, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" } ], "pmid": "" }, { "name": "endocytic vesicle membrane", "id": "GO:0030666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030666", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" } ], "pmid": "" }, { "name": "protein tag activity", "id": "GO:0031386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031386", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [ { "annotation": "(Microbial infection) Mono-ADP-ribosylated at Thr-66 by the C.violaceum CteC virulence factor. ADP-ribosylation causes the shutdown of polyubiquitin synthesis and disrupts the recognition and reversal of polyubiquitin.", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" }, { "database": "PubMed", "id": "32330457", "url": "https://glygen.org/publication/PubMed/32330457" } ] }, { "annotation": "Mono-ADP-ribosylated at the C-terminus by PARP9, a component of the PPAR9-DTX3L complex. ADP-ribosylation requires processing by E1 and E2 enzymes and prevents ubiquitin conjugation to substrates such as histones.", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" }, { "database": "PubMed", "id": "28525742", "url": "https://glygen.org/publication/PubMed/28525742" } ] }, { "annotation": "Phosphorylated at Ser-65 by PINK1 during mitophagy (PubMed:24660806, PubMed:24751536, PubMed:24784582, PubMed:25527291, PubMed:26161729). Phosphorylated ubiquitin specifically binds and activates parkin (PRKN), triggering mitophagy (PubMed:24660806, PubMed:24751536, PubMed:24784582, PubMed:25527291, PubMed:26161729). Phosphorylation does not affect E1-mediated E2 charging of ubiquitin but affects discharging of E2 enzymes to form polyubiquitin chains. It also affects deubiquitination by deubiquitinase enzymes such as USP30 (PubMed:25527291).", "evidence": [ { "database": "UniProtKB", "id": "P0CG47", "url": "https://www.uniprot.org/uniprot/P0CG47" }, { "database": "PubMed", "id": "24784582", "url": "https://glygen.org/publication/PubMed/24784582" }, { "database": "PubMed", "id": "24751536", "url": "https://glygen.org/publication/PubMed/24751536" }, { "database": "PubMed", "id": "25527291", "url": "https://glygen.org/publication/PubMed/25527291" }, { "database": "PubMed", "id": "24660806", "url": "https://glygen.org/publication/PubMed/24660806" }, { "database": "PubMed", "id": "26161729", "url": "https://glygen.org/publication/PubMed/26161729" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 9, 65 ], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3151 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }