{ "uniprot_canonical_ac": "Q9NQR1-1", "uniprot_ac": "Q9NQR1", "uniprot_id": "KMT5A_HUMAN", "mass": { "chemical_mass": 42890.0, "monoisotopic_mass": 42890.0 }, "refseq": { "ac": "NP_001311433", "name": "N-lysine methyltransferase KMT5A isoform 2", "summary": "The protein encoded by this gene is a protein-lysine N-methyltransferase that can monomethylate Lys-20 of histone H4 to effect transcriptional repression of some genes. The encoded protein is required for cell proliferation and plays a role in chromatin condensation. [provided by RefSeq, May 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311433" }, "gene_names": [ { "name": "KMT5A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9NQR1", "id": "Q9NQR1" }, { "name": "KMT5A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311433", "id": "NP_001311433" }, { "name": "PR-Set7; PR/SET07; SET07; SET8; SETD8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311433", "id": "NP_001311433" }, { "name": "PRSET7", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9NQR1", "id": "Q9NQR1" }, { "name": "SET07", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9NQR1", "id": "Q9NQR1" }, { "name": "SET8", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9NQR1", "id": "Q9NQR1" }, { "name": "SETD8", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9NQR1", "id": "Q9NQR1" } ], "protein_names": [ { "name": "N-lysine methyltransferase KMT5A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9NQR1" }, { "name": "2.1.1.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NQR1" }, { "name": "2.1.1.361", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NQR1" }, { "name": "H4-K20-HMTase KMT5A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NQR1" }, { "name": "Histone-lysine N-methyltransferase KMT5A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NQR1" }, { "name": "Lysine N-methyltransferase 5A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NQR1" }, { "name": "Lysine-specific methylase 5A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NQR1" }, { "name": "N-lysine methyltransferase KMT5A isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311433", "id": "NP_001311433" }, { "name": "PR-Set7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NQR1" }, { "name": "PR/SET domain containing protein 8; H4-K20-specific histone methyltransferase; histone-lysine N-methyltransferase SETD8; N-lysine methyltransferase SETD8; H4-K20-HMTase SETD8; lysine N-methyltransferase 5A; SET domain-containing protein 8; PR/SET domain-containing protein 07; SET domain containing (lysine methyltransferase) 8; lysine (K)-specific methyltransferase 5A; H4-K20-HMTase KMT5A; lysine-specific methylase 5A; histone-lysine N-methyltransferase KMT5A; N-lysine methyltransferase KMT5A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311433", "id": "NP_001311433" }, { "name": "PR/SET domain-containing protein 07", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NQR1" }, { "name": "PR/SET07", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NQR1" }, { "name": "SET domain-containing protein 8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NQR1" } ], "function": [ { "annotation": "Integrative bioinformatics analysis the clinical value of KMT5A in different subtypes of lung cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001311433", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311433" }, { "database": "PubMed", "id": "34894606", "url": "https://glygen.org/publication/PubMed/34894606" } ] }, { "annotation": "KMT5A Knockdown Suppresses Osteosarcoma Cell Proliferation and Metastasis Through -Catenin Signalling. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001311433", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311433" }, { "database": "PubMed", "id": "36149050", "url": "https://glygen.org/publication/PubMed/36149050" } ] }, { "annotation": "KMT5A-methylated SNIP1 promotes triple-negative breast cancer metastasis by activating YAP signaling. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001311433", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311433" }, { "database": "PubMed", "id": "35449131", "url": "https://glygen.org/publication/PubMed/35449131" } ] }, { "annotation": "Protein-lysine N-methyltransferase that monomethylates both histones and non-histone proteins (PubMed:12086618, PubMed:12121615, PubMed:15964846, PubMed:17707234, PubMed:27338793). Specifically monomethylates 'Lys-20' of histone H4 (H4K20me1) (PubMed:12086618, PubMed:12121615, PubMed:15964846, PubMed:27338793, PubMed:15200950, PubMed:15933069, PubMed:15933070, PubMed:16517599). H4K20me1 is enriched during mitosis and represents a specific tag for epigenetic transcriptional repression (PubMed:12086618, PubMed:12121615, PubMed:15964846, PubMed:15200950, PubMed:15933069, PubMed:15933070, PubMed:16517599). Mainly functions in euchromatin regions, thereby playing a central role in the silencing of euchromatic genes (PubMed:12086618, PubMed:12121615, PubMed:15964846, PubMed:15200950, PubMed:15933069, PubMed:15933070, PubMed:16517599). Required for cell proliferation, probably by contributing to the maintenance of proper higher-order structure of DNA during mitosis (PubMed:12086618, PubMed:12121615, PubMed:15964846, PubMed:15200950, PubMed:15933069, PubMed:15933070, PubMed:16517599). Involved in chromosome condensation and proper cytokinesis (PubMed:12086618, PubMed:12121615, PubMed:15964846, PubMed:15200950, PubMed:15933069, PubMed:15933070, PubMed:16517599). Nucleosomes are preferred as substrate compared to free histones (PubMed:12086618, PubMed:12121615, PubMed:15964846, PubMed:15200950, PubMed:15933069, PubMed:15933070, PubMed:16517599). Mediates monomethylation of p53/TP53 at 'Lys-382', leading to repress p53/TP53-target genes (PubMed:17707234). Plays a negative role in TGF-beta response regulation and a positive role in cell migration (PubMed:23478445).", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1#function" }, { "database": "PubMed", "id": "15200950", "url": "https://glygen.org/publication/PubMed/15200950" }, { "database": "PubMed", "id": "15933069", "url": "https://glygen.org/publication/PubMed/15933069" }, { "database": "PubMed", "id": "17707234", "url": "https://glygen.org/publication/PubMed/17707234" }, { "database": "PubMed", "id": "23478445", "url": "https://glygen.org/publication/PubMed/23478445" }, { "database": "PubMed", "id": "15933070", "url": "https://glygen.org/publication/PubMed/15933070" }, { "database": "PubMed", "id": "16517599", "url": "https://glygen.org/publication/PubMed/16517599" }, { "database": "PubMed", "id": "15964846", "url": "https://glygen.org/publication/PubMed/15964846" }, { "database": "PubMed", "id": "27338793", "url": "https://glygen.org/publication/PubMed/27338793" }, { "database": "PubMed", "id": "12086618", "url": "https://glygen.org/publication/PubMed/12086618" }, { "database": "PubMed", "id": "12121615", "url": "https://glygen.org/publication/PubMed/12121615" } ] }, { "annotation": "SET8, a novel regulator to ameliorate vascular calcification via activating PI3K/Akt mediated anti-apoptotic effects.", "evidence": [ { "database": "RefSeq", "id": "NP_001311433", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311433" }, { "database": "PubMed", "id": "34846946", "url": "https://glygen.org/publication/PubMed/34846946" } ] }, { "annotation": "SETD8 promotes glycolysis in colorectal cancer via regulating HIF1alpha/HK2 axis.", "evidence": [ { "database": "RefSeq", "id": "NP_001311433", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311433" }, { "database": "PubMed", "id": "36921492", "url": "https://glygen.org/publication/PubMed/36921492" } ] }, { "annotation": "The protein encoded by this gene is a protein-lysine N-methyltransferase that can monomethylate Lys-20 of histone H4 to effect transcriptional repression of some genes. The encoded protein is required for cell proliferation and plays a role in chromatin condensation. [provided by RefSeq, May 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001311433", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311433" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 162, "end_pos": 162, "sequence_org": "K", "sequence_mut": "Q", "comment": "Does not affect the interaction with SIRT2. Increases the number of mitotic foci formation. Does not affect methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" }, { "database": "PubMed", "id": "23468428", "url": "https://glygen.org/publication/PubMed/23468428" } ] }, { "start_pos": 162, "end_pos": 162, "sequence_org": "K", "sequence_mut": "R", "comment": "Increases the interaction with SIRT2. Reduces the number of mitotic foci formation. Does not affect methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" }, { "database": "PubMed", "id": "23468428", "url": "https://glygen.org/publication/PubMed/23468428" } ] }, { "start_pos": 286, "end_pos": 286, "sequence_org": "Y", "sequence_mut": "A", "comment": "Strongly reduces affinity for histone H4 and abolishes methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" }, { "database": "PubMed", "id": "15933070", "url": "https://glygen.org/publication/PubMed/15933070" } ] }, { "start_pos": 286, "end_pos": 286, "sequence_org": "Y", "sequence_mut": "F", "comment": "Strongly reduces affinity for histone H4 and abolishes methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" }, { "database": "PubMed", "id": "15933070", "url": "https://glygen.org/publication/PubMed/15933070" } ] }, { "start_pos": 300, "end_pos": 300, "sequence_org": "E", "sequence_mut": "A", "comment": "Strongly reduces affinity for histone H4.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" }, { "database": "PubMed", "id": "15933070", "url": "https://glygen.org/publication/PubMed/15933070" } ] }, { "start_pos": 311, "end_pos": 311, "sequence_org": "C", "sequence_mut": "A", "comment": "Strongly reduces affinity for histone H4.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" }, { "database": "PubMed", "id": "15933070", "url": "https://glygen.org/publication/PubMed/15933070" } ] }, { "start_pos": 336, "end_pos": 336, "sequence_org": "R", "sequence_mut": "G", "comment": "Abolishes methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" }, { "database": "PubMed", "id": "23478445", "url": "https://glygen.org/publication/PubMed/23478445" }, { "database": "PubMed", "id": "12086618", "url": "https://glygen.org/publication/PubMed/12086618" } ] }, { "start_pos": 340, "end_pos": 340, "sequence_org": "H", "sequence_mut": "A", "comment": "Strongly decreases methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" }, { "database": "PubMed", "id": "12121615", "url": "https://glygen.org/publication/PubMed/12121615" } ] }, { "start_pos": 375, "end_pos": 375, "sequence_org": "Y", "sequence_mut": "A", "comment": "Strongly reduces affinity for histone H4 and methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" }, { "database": "PubMed", "id": "15933070", "url": "https://glygen.org/publication/PubMed/15933070" } ] }, { "start_pos": 375, "end_pos": 375, "sequence_org": "Y", "sequence_mut": "F", "comment": "Alters methyltransferase activity, so that both monomethylation and dimethylation take place.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" }, { "database": "PubMed", "id": "15933070", "url": "https://glygen.org/publication/PubMed/15933070" } ] }, { "start_pos": 379, "end_pos": 379, "sequence_org": "D", "sequence_mut": "A", "comment": "Abolishes histone H4 binding and methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" }, { "database": "PubMed", "id": "17707234", "url": "https://glygen.org/publication/PubMed/17707234" }, { "database": "PubMed", "id": "23478445", "url": "https://glygen.org/publication/PubMed/23478445" }, { "database": "PubMed", "id": "15933070", "url": "https://glygen.org/publication/PubMed/15933070" }, { "database": "PubMed", "id": "20870725", "url": "https://glygen.org/publication/PubMed/20870725" } ] }, { "start_pos": 379, "end_pos": 379, "sequence_org": "D", "sequence_mut": "N", "comment": "Abolishes histone H4 binding and methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" }, { "database": "PubMed", "id": "17707234", "url": "https://glygen.org/publication/PubMed/17707234" }, { "database": "PubMed", "id": "23478445", "url": "https://glygen.org/publication/PubMed/23478445" }, { "database": "PubMed", "id": "15933070", "url": "https://glygen.org/publication/PubMed/15933070" }, { "database": "PubMed", "id": "20870725", "url": "https://glygen.org/publication/PubMed/20870725" } ] }, { "start_pos": 385, "end_pos": 393, "sequence_org": "IEAHPWLKH", "sequence_mut": "", "comment": "Abolishes methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" }, { "database": "PubMed", "id": "12121615", "url": "https://glygen.org/publication/PubMed/12121615" } ] }, { "start_pos": 388, "end_pos": 388, "sequence_org": "H", "sequence_mut": "A", "comment": "Strongly reduces affinity for histone H4.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" }, { "database": "PubMed", "id": "15933070", "url": "https://glygen.org/publication/PubMed/15933070" } ] }, { "start_pos": 388, "end_pos": 388, "sequence_org": "H", "sequence_mut": "E", "comment": "Strongly reduces affinity for histone H4.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" }, { "database": "PubMed", "id": "15933070", "url": "https://glygen.org/publication/PubMed/15933070" } ] }, { "start_pos": 388, "end_pos": 388, "sequence_org": "H", "sequence_mut": "F", "comment": "Increases affinity for histone H4.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" }, { "database": "PubMed", "id": "15933070", "url": "https://glygen.org/publication/PubMed/15933070" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "80.18", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000183955", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183955" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "74.84", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000183955", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183955" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "89.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000183955", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183955" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "93.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000183955", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183955" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "92.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000183955", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183955" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "81.32", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000183955", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183955" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "91.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000183955", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183955" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "85.13", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000183955", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183955" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "95.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000183955", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183955" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "89.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000183955", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183955" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q9NQR1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NQR1" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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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", "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": "Q9NQR1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NQR1" } ], "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 of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"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": "Q9NQR1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NQR1" } ], "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": "Q9NQR1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NQR1" } ], "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": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "Q9NQR1", "url": 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"https://www.uniprot.org/uniprot/Q9NQR1-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGEGGAAAALVAAAAAAAAAAAAVVAGQRRRRLGRRARCHGPGRAAGGKMSKPCAVEAAAAAVAATAPGPEMVERRGPGRPRTDGENVFTGQSKIYSYMSPNKCSGMRFPLQEENSVTHHEVKCQGKPLAGIYRKREEKRNAGNAVRSAMKSEEQKIKDARKGPLVPFPNQKSEAAEPPKTPPSSCDSTNAAIAKQALKKPIKGKQAPRKKAQGKTQQNRKLTDFYPVRRSSRKSKAELQSEERKRIDELIESGKEEGMKIDLIDGKGRGVIATKQFSRGDFVVEYHGDLIEITDAKKREALYAQDPSTGCYMYYFQYLSKTYCVDATRETNRLGRLINHSKCGNCQTKLHDIDGVPHLILIASRDIAAGEELLYDYGDRSKASIEAHPWLKH", "length": 393, "header": "sp|Q9NQR1-1|KMT5A_HUMAN Isoform 1 of N-lysine methyltransferase KMT5A OS=Homo sapiens OX=9606 GN=KMT5A PE=1 SV=3 CANONICAL=Q9NQR1-1" }, "isoforms": [ { "isoform_ac": "C9JKQ0-1", "url": "", "sequence": { "sequence": "MRWLWLLLFPDSPVTLREVLPSQPWRLRGCSDLRGENVFTGQSKIYSYMSPNKCSGMRFPLQEENSVTHHEVKCQGKPLAGIYRKREEKRNAGNAVRSAMKSEEQKIKDARKGPLVPFPNQKSEAAEPPKTPPSSCDSTNAAIAKQALKKPIKGKQAPRKKAQGKTQQNRKLTDFYPVRRSSRKSKAELQSEERKRIDELIESGKEEGMKIDLIDGKGRGVIATKQFSRGDFVVEYHGDLIEITDAKKREALYAQDPSTGCYMYYFQYLSKTYCVDATRETNRLGRLINHSKCGNCQTK", "length": 299, "header": "tr|C9JKQ0-1|C9JKQ0_HUMAN Computationally mapped isoform of [histone H4]-lysine(20) N-methyltransferase OS=Homo sapiens OX=9606 GN=KMT5A PE=1 SV=1 CANONICAL=Q9NQR1-1" }, "locus": { "chromosome": "12", "start_pos": 123407568, "end_pos": 123390046, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000437502.1", "url": "https://www.ensembl.org/id/ENST00000437502.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000413811.1", "url": "https://www.ensembl.org/id/ENSP00000413811.1" } ] } }, { "isoform_ac": "F8WC45-1", "url": "", "sequence": { "sequence": 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"MGEGGAAAALVAAAAAAAAAAAAVVAGQRRRRLGRRARCHGPGRAAGGKMSKPCAVEAAAAAVAATAPGPEMVERRGPGRPRTDGENVFTGQSKIYSYMSPNKCSGMRFPLQEENSVTHHEVKCQGKPLAGIYRKREEKRNAGNAVRSAMKSEEQKIKDARKGPLVPFPNQKSEAAEPPKTPPSSCDSTNAAIAKQALKKPIKGKQAPRKKAQGKTQQNRKLTDFYPVRRSSRKSKAELQSEERKRIDELIESGKEEGMKIDLIDGKGRGVIATKQFSRGDFVVEYHGDLIEITDAKKREALYAQDPSTGCYMYYFQYLSKTYCVDATRETNRLGRLINHSKCGNCQTKLHDIDGVPHLILIASRDIAAGEELLYDYGDRSKASIEAHPWLKH", "length": 393, "header": "sp|Q9NQR1-1|KMT5A_HUMAN Isoform 1 of N-lysine methyltransferase KMT5A OS=Homo sapiens OX=9606 GN=KMT5A PE=1 SV=3 CANONICAL=Q9NQR1-1" }, "locus": {} }, { "isoform_ac": "Q9NQR1-2", "url": "", "sequence": { "sequence": "MARGRKMSKPRAVEAAAAAAAVAATAPGPEMVERRGPGRPRTDGENVFTGQSKIYSYMSPNKCSGMRFPLQEENSVTHHEVKCQGKPLAGIYRKREEKRNAGNAVRSAMKSEEQKIKDARKGPLVPFPNQKSEAAEPPKTPPSSCDSTNAAIAKQALKKPIKGKQAPRKKAQGKTQQNRKLTDFYPVRRSSRKSKAELQSEERKRIDELIESGKEEGMKIDLIDGKGRGVIATKQFSRGDFVVEYHGDLIEITDAKKREALYAQDPSTGCYMYYFQYLSKTYCVDATRETNRLGRLINHSKCGNCQTKLHDIDGVPHLILIASRDIAAGEELLYDYGDRSKASIEAHPWLKH", "length": 352, "header": "sp|Q9NQR1-2|KMT5A_HUMAN Isoform 2 of N-lysine methyltransferase KMT5A OS=Homo sapiens OX=9606 GN=KMT5A PE=1 SV=3 CANONICAL=Q9NQR1-1" }, "locus": { "chromosome": "12", "start_pos": 123407700, "end_pos": 123384199, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000402868.8", "url": "https://www.ensembl.org/id/ENST00000402868.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000384629.3", "url": "https://www.ensembl.org/id/ENSP00000384629.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 278, "start_aa": "Ser", "end_pos": 278, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser278", "evidence": [ { "id": "Q9NQR1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NQR1" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "Q9NQR1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9NQR1" } ] } ], "phosphorylation": [ { "start_pos": 100, "end_pos": 100, "kinase_uniprot_canonical_ac": "P06493-1", "kinase_gene_name": "CDK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NQR1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NQR1" }, { "database": "PubMed", "id": "20966048", "url": "https://glygen.org/publication/PubMed/20966048" } ], "site_lbl": "Ser100" }, { "start_pos": 100, "end_pos": 100, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q9NQR1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NQR1" }, { "database": "PubMed", "id": "20966048", "url": "https://glygen.org/publication/PubMed/20966048" }, { "database": "phospho.ELM", "id": "Q9NQR1", "url": "http://phospho.elm.eu.org/byAccession/Q9NQR1.html" } ], "site_lbl": "Ser100" }, { "start_pos": 181, "end_pos": 181, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9NQR1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NQR1" } ], "site_lbl": "Thr181" }, { "start_pos": 253, "end_pos": 253, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NQR1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NQR1" }, { "database": "PubMed", "id": "26666832", "url": "https://glygen.org/publication/PubMed/26666832" }, { "database": "PubMed", "id": "27649746", "url": "https://glygen.org/publication/PubMed/27649746" } ], "site_lbl": "Ser253" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "A novel cofactor for p300 that regulates the p53 response.", "journal": "Molecular cell", "date": "1999", "authors": "Shikama N, Lee CW, France S, Delavaine L, Lyon J, Krstic-Demonacos M, La Thangue NB", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804760", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804760" } ], "reference": [ { "type": "PubMed", "id": "10518217", "url": "https://glygen.org/publication/PubMed/10518217" } ] }, { "title": "Regulation of chromatin structure by site-specific histone H3 methyltransferases.", "journal": "Nature", "date": "2000", "authors": "Rea S, Eisenhaber F, O'Carroll D, Strahl BD, Sun ZW, Schmid M, Opravil S, Mechtler K, Ponting CP, Allis CD, Jenuwein T", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "10949293", "url": "https://glygen.org/publication/PubMed/10949293" } ] }, { "title": "A TPR motif cofactor contributes to p300 activity in the p53 response.", "journal": "Molecular cell", "date": "2001", "authors": "Demonacos C, Krstic-Demonacos M, La Thangue NB", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804760", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804760" } ], "reference": [ { "type": "PubMed", "id": "11511361", "url": "https://glygen.org/publication/PubMed/11511361" } ] }, { "title": "SETDB1: a novel KAP-1-associated histone H3, lysine 9-specific methyltransferase that contributes to HP1-mediated silencing of euchromatic genes by KRAB zinc-finger proteins.", "journal": "Genes & development", "date": "2002", "authors": "Schultz DC, Ayyanathan K, Negorev D, Maul GG, Rauscher FJ 3rd", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "11959841", "url": "https://glygen.org/publication/PubMed/11959841" } ] }, { "title": "PR-Set7 is a nucleosome-specific methyltransferase that modifies lysine 20 of histone H4 and is associated with silent chromatin.", "journal": "Mol. Cell", "date": "2002", "authors": "Nishioka K, Rice JC, Sarma K, Erdjument-Bromage H, Werner J, Wang Y, Chuikov S, Valenzuela P, Tempst P, Steward R, Lis JT, Allis CD, Reinberg D", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" }, { "database": "Reactome", "id": "R-HSA-2299718", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2299718" } ], "reference": [ { "type": "PubMed", "id": "12086618", "url": "https://glygen.org/publication/PubMed/12086618" } ] }, { "title": "Purification and functional characterization of SET8, a nucleosomal histone H4-lysine 20-specific methyltransferase.", "journal": "Curr. 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Hayward NK, Hess JL, Meyerson M", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "14992727", "url": "https://glygen.org/publication/PubMed/14992727" } ] }, { "title": "A silencing pathway to induce H3-K9 and H4-K20 trimethylation at constitutive heterochromatin.", "journal": "Genes & development", "date": "2004", "authors": "Schotta G, Lachner M, Sarma K, Ebert A, Sengupta R, Reuter G, Reinberg D, Jenuwein T", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "15145825", "url": "https://glygen.org/publication/PubMed/15145825" } ] }, { "title": "A switch in mitotic histone H4 lysine 20 methylation status is linked to M phase defects upon loss of HCF-1.", "journal": "Mol. Cell", "date": "2004", "authors": "Herr W., Julien E.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" } ], "reference": [ { "type": "PubMed", "id": "15200950", "url": "https://glygen.org/publication/PubMed/15200950" } ] }, { "title": "SMYD3 encodes a histone methyltransferase involved in the proliferation of cancer cells.", "journal": "Nature cell biology", "date": "2004", "authors": "Hamamoto R, Furukawa Y, Morita M, Iimura Y, Silva FP, Li M, Yagyu R, Nakamura Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "15235609", "url": "https://glygen.org/publication/PubMed/15235609" } ] }, { "title": "A new effector pathway links ATM kinase with the DNA damage response.", "journal": "Nature cell biology", "date": "2004", "authors": "Demonacos C, Krstic-Demonacos M, Smith L, Xu D, O'Connor DP, Jansson M, La Thangue NB", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804760", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804760" } ], "reference": [ { "type": "PubMed", "id": "15448695", "url": "https://glygen.org/publication/PubMed/15448695" } ] }, { "title": "Regulation of p53 activity through lysine methylation.", "journal": "Nature", "date": "2004", "authors": "Chuikov S, Kurash JK, Wilson JR, Xiao B, Justin N, Ivanov GS, McKinney K, Tempst P, Prives C, Gamblin SJ, Barlev NA, Reinberg D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804760", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804760" } ], "reference": [ { "type": "PubMed", "id": "15525938", "url": "https://glygen.org/publication/PubMed/15525938" } ] }, { "title": "Role of the RB1 family in stabilizing histone methylation at constitutive heterochromatin.", "journal": "Nature cell biology", "date": "2005", "authors": "Gonzalo S, Garcia-Cao M, Fraga MF, Schotta G, Peters AH, Cotter SE, Eguia R, Dean DC, Esteller M, Jenuwein T, Blasco MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2299718", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2299718" } ], "reference": [ { "type": "PubMed", "id": "15750587", "url": "https://glygen.org/publication/PubMed/15750587" } ] }, { "title": "Specificity and mechanism of the histone methyltransferase Pr-Set7.", "journal": "Genes Dev.", "date": "2005", "authors": "Gamblin S.J., Jing C., Martin S.R., Walker P.A., Xiao B., Reinberg D., Frenkiel T.A., Kelly G., Muskett F.W., Sarma K., Wilson J.R.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" } ], "reference": [ { "type": "PubMed", "id": "15933069", "url": "https://glygen.org/publication/PubMed/15933069" } ] }, { "title": "Structural and functional analysis of SET8, a histone H4 'Lys-20' methyltransferase.", "journal": "Genes Dev.", "date": "2005", "authors": "Couture JF, Collazo E, Brunzelle JS, Trievel RC", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" } ], "reference": [ { "type": "PubMed", "id": "15933070", "url": "https://glygen.org/publication/PubMed/15933070" } ] }, { "title": "SET8 recognizes the sequence RHRK20VLRDN within the N terminus of histone H4 and mono-methylates lysine 20.", "journal": "J. 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Oncology", "date": "2013", "authors": "Rushlow DE, Mol BM, Kennett JY, Yee S, Pajovic S, Theriault BL, Prigoda-Lee NL, Spencer C, Dimaras H, Corson TW, Pang R, Massey C, Godbout R, Jiang Z, Zacksenhaus E, Paton K, Moll AC, Houdayer C, Raizis A, Halliday W, Lam WL, Boutros PC, Lohmann D, Dorsman JC, Gallie BL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2299718", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2299718" } ], "reference": [ { "type": "PubMed", "id": "23498719", "url": "https://glygen.org/publication/PubMed/23498719" } ] }, { "title": "SCF(beta-TRCP) promotes cell growth by targeting PR-Set7/Set8 for degradation.", "journal": "Nature communications", "date": "2015", "authors": "Wang Z, Dai X, Zhong J, Inuzuka H, Wan L, Li X, Wang L, Ye X, Sun L, Gao D, Zou L, Wei W", "evidence": [ { "database": "iPTMnet", "id": "Q9NQR1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NQR1" } ], "reference": [ { "type": "PubMed", "id": "26666832", "url": "https://glygen.org/publication/PubMed/26666832" } ] }, { "title": "H4K20me0 marks post-replicative chromatin and recruits the TONSL-MMS22L DNA repair complex.", "journal": "Nature", "date": "2016", "authors": "Saredi G, Huang H, Hammond CM, Alabert C, Bekker-Jensen S, Forne I, Reveron-Gomez N, Foster BM, Mlejnkova L, Bartke T, Cejka P, Mailand N, Imhof A, Patel DJ, Groth A", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" } ], "reference": [ { "type": "PubMed", "id": "27338793", "url": "https://glygen.org/publication/PubMed/27338793" } ] }, { "title": "A new layer of degradation mechanism for PR-Set7/Set8 during cell cycle.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2016", "authors": "Zheng N, Dai X, Wang Z, Wei W", "evidence": [ { "database": "iPTMnet", "id": "Q9NQR1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NQR1" } ], "reference": [ { "type": "PubMed", "id": "27649746", "url": "https://glygen.org/publication/PubMed/27649746" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9NQR1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NQR1" }, { "database": "O-GlcNAc Atlas", "id": "Q9NQR1", "url": "https://oglcnac.org/atlas/detail/Q9NQR1" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "SET8, a novel regulator to ameliorate vascular calcification via activating PI3K/Akt mediated anti-apoptotic effects.", "journal": "Biochemistry and cell biology = Biochimie et biologie cellulaire", "date": "2022", "authors": "Bai Y, Cheng M, Jin J, Zhang H, He L, Zhou W, Zhang S, Xu J", "evidence": [ { "database": "RefSeq", "id": "NP_001311433", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311433" } ], "reference": [ { "type": "PubMed", "id": "34846946", "url": "https://glygen.org/publication/PubMed/34846946" } ] }, { "title": "Integrative bioinformatics analysis the clinical value of KMT5A in different subtypes of lung cancer.", "journal": "Computational biology and chemistry", "date": "2022", "authors": "Liu S, Tian W, Li B", "evidence": [ { "database": "RefSeq", "id": "NP_001311433", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311433" } ], "reference": [ { "type": "PubMed", "id": "34894606", "url": "https://glygen.org/publication/PubMed/34894606" } ] }, { "title": "KMT5A-methylated SNIP1 promotes triple-negative breast cancer metastasis by activating YAP signaling.", "journal": "Nature communications", "date": "2022", "authors": "Yu B, Su J, Shi Q, Liu Q, Ma J, Ru G, Zhang L, Zhang J, Hu X, Tang J", "evidence": [ { "database": "RefSeq", "id": "NP_001311433", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311433" } ], "reference": [ { "type": "PubMed", "id": "35449131", "url": "https://glygen.org/publication/PubMed/35449131" } ] }, { "title": "KMT5A Knockdown Suppresses Osteosarcoma Cell Proliferation and Metastasis Through \ua7b4-Catenin Signalling.", "journal": "Clinical and investigative medicine. 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"total": 6, "go_terms": [ { "name": "histone H4K20 monomethyltransferase activity", "id": "GO:0140944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140944", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" } ], "pmid": "" }, { "name": "lysine N-methyltransferase activity", "id": "GO:0016278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016278", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" } ], "pmid": "" }, { "name": "histone methyltransferase activity", "id": "GO:0042054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042054", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" } ], "pmid": "" }, { "name": "protein-lysine N-methyltransferase activity", "id": "GO:0016279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016279", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" } ], "pmid": "" }, { "name": "histone H4K20 methyltransferase activity", "id": "GO:0042799", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042799", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 9, "go_terms": [ { "name": "negative regulation of double-strand break repair via homologous recombination", "id": "GO:2000042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000042", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" } ], "pmid": "" }, { "name": "regulation of DNA damage response, signal transduction by p53 class mediator", "id": "GO:0043516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043516", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" } ], "pmid": "" }, { "name": "regulation of signal transduction by p53 class mediator", "id": "GO:1901796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901796", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" } ], "pmid": "" }, { "name": "mitotic chromosome condensation", "id": "GO:0007076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007076", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" } ], "pmid": "" }, { "name": "peptidyl-lysine monomethylation", "id": "GO:0018026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018026", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 339, "end_pos": 341, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Acetylated at Lys-162; does not affect methyltransferase activity. Deacetylated at Lys-162 possibly by SIRT2; does not change methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" }, { "database": "PubMed", "id": "23468428", "url": "https://glygen.org/publication/PubMed/23468428" } ] }, { "annotation": "Ubiquitinated and degraded by the DCX(DTL) complex.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQR1", "url": "https://www.uniprot.org/uniprot/Q9NQR1" }, { "database": "PubMed", "id": "23478445", "url": "https://glygen.org/publication/PubMed/23478445" } ] } ], "interactions": [], "reactions": [ { "id": "51736", "name": "", "equation": "L-lysyl-[protein] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl-[protein] + S-adenosyl-L-homocysteine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P0C6Y7-1", "D3ZSK5-1", "Q7M6Z3-1", "A0A0G2JTW4-1", "A0A0G2JW37-1", "D3ZEB9-1", "M0R767-1", "D4ADE5-1", "A0A8I6AL52-1", "Q8N6R0-5", "Q9NQV7-1", "Q9BYW2-1", "P0DPD7-4", "Q9NQR1-1", "Q9NRG4-1", "Q96AZ1-1", "Q8TBK2-1", "Q8WTS6-1", "Q91YR5-3", "Q96EQ9-1", "E9Q5F9-1", "P0DPE0-1", "D3YWP0-1", "Q9CWY3-1", "Q2YDW7-1", "Q8R5A0-1", "Q8VHL1-1", "Q54J80-1", "Q9VIK9-1" ], "evidence": [ { "id": "51736", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/51736" } ] }, { "id": "60344", "name": "", "equation": "L-lysyl(20)-[histone H4] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(20)-[histone H4] + S-adenosyl-L-homocysteine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P0C2N5-1", "P0C6Y7-1", "P0C2N6-1", "A0A0G2JTW4-1", "A0A0G2JW37-1", "D3ZEB9-1", "M0R767-1", "A0A8I6AL52-1", "Q9NVD3-1", "Q4FZB7-1", "Q9NQR1-1", "Q86Y97-1", "Q9NQX0-3", "Q9NQV7-1", "Q3U8K7-1", "P58467-1", "Q2YDW7-1", "Q6Q783-1", "Q3UZD5-1", "Q96EQ9-1", "Q9VFK6-1", "Q9W5E0-1" ], "evidence": [ { "id": "60344", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/60344" } ] }, { "id": "R-HSA-2301205", "name": "SETD8 monomethylates histone H4", "equation": "", "summary": "SETD8 is a protein-lysine N-methyltransferase that monomethylates H4 histone to produce H4K20me1 (Nishioka et al. 2002, Wu et al. 2010). SETD8 levels peak at G2/M transition, and regulated SETD8 activity is required for normal cell cycle progression (Rice et al. 2002, Wu et al. 2010).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9NQR1-1" ], "evidence": [ { "id": "R-HSA-2301205", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2301205" } ] }, { "id": "R-HSA-5423038", "name": "SETD8 (KMT5A) methylates lysine-21 of histone H4 (H4K20)", "equation": "", "summary": "Monomethylation of lysine-21 of histone H4 (H4K20) is performed by SETD8 (KMT5A) (Yin et al. 2005). Trimethylation, performed by SUV420H1 and SUV420H2 and possibly SMYD3 (Foreman et al. 2011), is associated with heterochromatin formation and gene repression (Schotta et al. 2004).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [ "R-HSA-5423110" ], "enzyme_list": [ "Q9NQR1-1" ], "evidence": [ { "id": "R-HSA-5423038", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5423038" } ] }, { "id": "R-HSA-6805740", "name": "SETD8 methylates TP53", "equation": "", "summary": "The protein lysine methyltransferase SETD8 (SET8) monomethylates TP53 (p53) on lysine residue K382, resulting in repression of TP53 transcriptional activity (Shi et al. 2007).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9NQR1-1" ], "evidence": [ { "id": "R-HSA-6805740", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6805740" } ] } ], 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] } ] }, { "uniprot_ac": "D4ADE5", "gene_name": "Setd7", "activity": [ { "ec_number": "2.1.1.364", "activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "D4ADE5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4ADE5" } ] }, { "ec_number": "2.1.1.364", "activity": "", "evidence": [ { "id": "D4ADE5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4ADE5" } ] }, { "ec_number": "2.1.1.-", "activity": "", "evidence": [ { "id": "D4ADE5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4ADE5" } ] } ] }, { "uniprot_ac": "E9Q5F9", "gene_name": "Setd2", "activity": [ { "ec_number": "2.1.1.359", "activity": "L-lysyl(36)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(36)-[histone H3] + 3 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "E9Q5F9", "database": "UniProtKB", "url": 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{ "id": "Q3U8K7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3U8K7" } ] } ] }, { "uniprot_ac": "Q3UZD5", "gene_name": "Prdm6", "activity": [ { "ec_number": "2.1.1.361", "activity": "L-lysyl(20)-[histone H4] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(20)-[histone H4] + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q3UZD5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3UZD5" } ] }, { "ec_number": "2.1.1.361", "activity": "", "evidence": [ { "id": "Q3UZD5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3UZD5" } ] } ] }, { "uniprot_ac": "Q4FZB7", "gene_name": "KMT5B", "activity": [ { "ec_number": "2.1.1.362", "activity": "N(6)-methyl-L-lysyl(20)-[histone H4] + S-adenosyl-L-methionine = H(+) + N(6),N(6)-dimethyl-L-lysyl(20)-[histone H4] + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q4FZB7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4FZB7" } ] }, { "ec_number": "2.1.1.361", "activity": "L-lysyl(20)-[histone H4] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(20)-[histone H4] + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q4FZB7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4FZB7" } ] }, { "ec_number": "2.1.1.361", "activity": "", "evidence": [ { "id": "Q4FZB7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4FZB7" } ] }, { "ec_number": "2.1.1.362", "activity": "", "evidence": [ { "id": "Q4FZB7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4FZB7" } ] } ] }, { "uniprot_ac": "Q54J80", "gene_name": "", "activity": [ { "ec_number": "2.1.1.364", "activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q54J80", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54J80" } ] }, { "ec_number": "2.1.1.364", "activity": "", "evidence": [ { "id": "Q54J80", "database": 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