{ "uniprot_canonical_ac": "O43463-1", "uniprot_ac": "O43463", "uniprot_id": "SUV91_HUMAN", "mass": { "chemical_mass": 47907.0, "monoisotopic_mass": 47907.0 }, "refseq": { "ac": "NP_001269095", "name": "histone-lysine N-methyltransferase SUV39H1 isoform 1", "summary": "This gene encodes an evolutionarily-conserved protein containing an N-terminal chromodomain and a C-terminal SET domain. The encoded protein is a histone methyltransferase that trimethylates lysine 9 of histone H3, which results in transcriptional gene silencing. Loss of function of this gene disrupts heterochromatin formation and may cause chromosome instability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269095" }, "gene_names": [ { "name": "SUV39H1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43463", "id": "O43463" }, { "name": "H3-K9-HMTase 1; KMT1A; MG44; SUV39H", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269095", "id": "NP_001269095" }, { "name": "KMT1A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43463", "id": "O43463" }, { "name": "SUV39H1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269095", "id": "NP_001269095" }, { "name": "SUV39H", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43463", "id": "O43463" } ], "protein_names": [ { "name": "Histone-lysine N-methyltransferase SUV39H1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43463" }, { "name": "2.1.1.355", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43463" }, { "name": "H3-K9-HMTase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43463" }, { "name": "Histone H3-K9 methyltransferase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43463" }, { "name": "Lysine N-methyltransferase 1A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43463" }, { "name": "Position-effect variegation 3-9 homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43463" }, { "name": "Su(var)3-9 homolog 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43463" }, { "name": "Suppressor of variegation 3-9 homolog 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43463" }, { "name": "histone-lysine N-methyltransferase SUV39H1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269095", "id": "NP_001269095" }, { "name": "histone-lysine N-methyltransferase, H3 lysine-9 specific 1; histone H3-K9 methyltransferase 1; Su(var)3-9 homolog 1; lysine N-methyltransferase 1A; position-effect variegation 3-9 homolog; suppressor of variegation 3-9 homolog 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269095", "id": "NP_001269095" } ], "function": [ { "annotation": "(Microbial infection) Plays a role in defense against mycobacterial infections. Methylates M.tuberculosis HupB on 'Lys-140', probably methylates HupB of M.bovis also. Methylation has an inhibitory effect on mycobacterial growth in the host. Macrophages expressing about 60% SUV39H1 are slightly more susceptible to M.bovis or M.tuberculosis infection. Chaetocin (an inhibitor of this enzyme) increases macrophage survival of M.tuberculosis. This protein inhibits biofilm formation by M.tuberculosis via 'Lys-140' trimethylation.", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463#function" }, { "database": "PubMed", "id": "29170282", "url": "https://glygen.org/publication/PubMed/29170282" } ] }, { "annotation": "Decreased SUV39H1 at the promoter region leads to increased CREMalpha and accelerates autoimmune response in CD4[+] T cells from patients with systemic lupus erythematosus. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001269095", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269095" }, { "database": "PubMed", "id": "36536372", "url": "https://glygen.org/publication/PubMed/36536372" } ] }, { "annotation": "Differences in SUV39H1 and androgen receptor distribution in adenomyomatous hyperplasia and prostatic adenocarcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001269095", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269095" }, { "database": "PubMed", "id": "36149194", "url": "https://glygen.org/publication/PubMed/36149194" } ] }, { "annotation": "Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3 using monomethylated H3 'Lys-9' as substrate. Also weakly methylates histone H1 (in vitro). H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin at pericentric and telomere regions. H3 'Lys-9' trimethylation is also required to direct DNA methylation at pericentric repeats. SUV39H1 is targeted to histone H3 via its interaction with RB1 and is involved in many processes, such as repression of MYOD1-stimulated differentiation, regulation of the control switch for exiting the cell cycle and entering differentiation, repression by the PML-RARA fusion protein, BMP-induced repression, repression of switch recombination to IgA and regulation of telomere length. Component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes. The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at 'Lys-9' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus. Recruited by the large PER complex to the E-box elements of the circadian target genes such as PER2 itself or PER1, contributes to the conversion of local chromatin to a heterochromatin-like repressive state through H3 'Lys-9' trimethylation.", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463#function" }, { "database": "PubMed", "id": "16818776", "url": "https://glygen.org/publication/PubMed/16818776" }, { "database": "PubMed", "id": "14765126", "url": "https://glygen.org/publication/PubMed/14765126" }, { "database": "PubMed", "id": "18004385", "url": "https://glygen.org/publication/PubMed/18004385" }, { "database": "PubMed", "id": "16858404", "url": "https://glygen.org/publication/PubMed/16858404" }, { "database": "PubMed", "id": "18485871", "url": "https://glygen.org/publication/PubMed/18485871" }, { "database": "PubMed", "id": "30111536", "url": "https://glygen.org/publication/PubMed/30111536" }, { "database": "PubMed", "id": "16449642", "url": "https://glygen.org/publication/PubMed/16449642" } ] }, { "annotation": "SUV39H1 is a novel biomarker targeting oxidative phosphorylation in hepatitis B virus-associated hepatocellular carcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001269095", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269095" }, { "database": "PubMed", "id": "38017386", "url": "https://glygen.org/publication/PubMed/38017386" } ] }, { "annotation": "SUV39H1 is a prognosis and immune microenvironment-related biomarker in diffuse large B-cell lymphoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001269095", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269095" }, { "database": "PubMed", "id": "37029239", "url": "https://glygen.org/publication/PubMed/37029239" } ] }, { "annotation": "This gene encodes an evolutionarily-conserved protein containing an N-terminal chromodomain and a C-terminal SET domain. The encoded protein is a histone methyltransferase that trimethylates lysine 9 of histone H3, which results in transcriptional gene silencing. Loss of function of this gene disrupts heterochromatin formation and may cause chromosome instability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001269095", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269095" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 266, "end_pos": 266, "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of SIRT1-mediated up-regulation of enzymatic activity.", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" }, { "database": "PubMed", "id": "18004385", "url": "https://glygen.org/publication/PubMed/18004385" } ] }, { "start_pos": 266, "end_pos": 266, "sequence_org": "K", "sequence_mut": "Q", "comment": "Significant loss of enzymatic activity.", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" }, { "database": "PubMed", "id": "18004385", "url": "https://glygen.org/publication/PubMed/18004385" } ] }, { "start_pos": 320, "end_pos": 320, "sequence_org": "H", "sequence_mut": "R", "comment": "Strongly increases methylation of histone H3.", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" }, { "database": "PubMed", "id": "10949293", "url": "https://glygen.org/publication/PubMed/10949293" } ] }, { "start_pos": 324, "end_pos": 324, "sequence_org": "H", "sequence_mut": "K", "comment": "Abolishes methylation of histone H3.", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" }, { "database": "PubMed", "id": "10949293", "url": "https://glygen.org/publication/PubMed/10949293" } ] }, { "start_pos": 324, "end_pos": 324, "sequence_org": "H", "sequence_mut": "L", "comment": "Abolishes methylation of histone H3.", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" }, { "database": "PubMed", "id": "10949293", "url": "https://glygen.org/publication/PubMed/10949293" } ] }, { "start_pos": 326, "end_pos": 326, "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes methylation of histone H3.", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" }, { "database": "PubMed", "id": "10949293", "url": "https://glygen.org/publication/PubMed/10949293" } ] }, { "start_pos": 64, "end_pos": 64, "sequence_org": "W", "sequence_mut": "A", "comment": "Abolishes methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" }, { "database": "PubMed", "id": "16519522", "url": "https://glygen.org/publication/PubMed/16519522" } ] }, { "start_pos": 67, "end_pos": 67, "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" }, { "database": "PubMed", "id": "16519522", "url": "https://glygen.org/publication/PubMed/16519522" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "68.51", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000101945", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101945" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "64.12", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000101945", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101945" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "67.86", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000101945", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101945" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "67.24", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000101945", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101945" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "77.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101945", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101945" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "75.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101945", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101945" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "62.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000101945", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101945" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "69.16", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000101945", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101945" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "70.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000101945", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101945" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "61.5", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000101945", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101945" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "70.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000101945", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101945" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "74.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101945", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101945" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "71.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101945", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101945" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43463", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43463" } ], "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", 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"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 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"id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", 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"url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43463", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43463" } ], "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", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43463", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43463" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O43463", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43463" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O43463", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43463" } ], "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": "O43463", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43463" } ], "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": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43463", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43463" } ], "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": "O43463", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43463" } ], "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": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O43463", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43463" } ], "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": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O43463", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43463" } ], "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", "name": "malignant uterine tumor", "description": "" }, 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"https://www.uniprot.org/uniprot/O43463-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAENLKGCSVCCKSSWNQLQDLCRLAKLSCPALGISKRNLYDFEVEYLCDYKKIREQEYYLVKWRGYPDSESTWEPRQNLKCVRILKQFHKDLERELLRRHHRSKTPRHLDPSLANYLVQKAKQRRALRRWEQELNAKRSHLGRITVENEVDLDGPPRAFVYINEYRVGEGITLNQVAVGCECQDCLWAPTGGCCPGASLHKFAYNDQGQVRLRAGLPIYECNSRCRCGYDCPNRVVQKGIRYDLCIFRTDDGRGWGVRTLEKIRKNSFVMEYVGEIITSEEAERRGQIYDRQGATYLFDLDYVEDVYTVDAAYYGNISHFVNHSCDPNLQVYNVFIDNLDERLPRIAFFATRTIRAGEELTFDYNMQVDPVDMESTRMDSNFGLAGLPGSPKKRVRIECKCGTESCRKYLF", "length": 412, "header": "sp|O43463-1|SUV91_HUMAN Isoform 1 of Histone-lysine N-methyltransferase SUV39H1 OS=Homo sapiens OX=9606 GN=SUV39H1 PE=1 SV=1 CANONICAL=O43463-1" }, "isoforms": [ { "isoform_ac": "O43463-1", "url": "", "sequence": { "sequence": "MAENLKGCSVCCKSSWNQLQDLCRLAKLSCPALGISKRNLYDFEVEYLCDYKKIREQEYYLVKWRGYPDSESTWEPRQNLKCVRILKQFHKDLERELLRRHHRSKTPRHLDPSLANYLVQKAKQRRALRRWEQELNAKRSHLGRITVENEVDLDGPPRAFVYINEYRVGEGITLNQVAVGCECQDCLWAPTGGCCPGASLHKFAYNDQGQVRLRAGLPIYECNSRCRCGYDCPNRVVQKGIRYDLCIFRTDDGRGWGVRTLEKIRKNSFVMEYVGEIITSEEAERRGQIYDRQGATYLFDLDYVEDVYTVDAAYYGNISHFVNHSCDPNLQVYNVFIDNLDERLPRIAFFATRTIRAGEELTFDYNMQVDPVDMESTRMDSNFGLAGLPGSPKKRVRIECKCGTESCRKYLF", "length": 412, "header": "sp|O43463-1|SUV91_HUMAN Isoform 1 of Histone-lysine N-methyltransferase SUV39H1 OS=Homo sapiens OX=9606 GN=SUV39H1 PE=1 SV=1 CANONICAL=O43463-1" }, "locus": { "chromosome": "X", "start_pos": 48707567, "end_pos": 48696785, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000376687.4", "url": "https://www.ensembl.org/id/ENST00000376687.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000365877.4", "url": "https://www.ensembl.org/id/ENSP00000365877.4" } ] } }, { "isoform_ac": "O43463-2", "url": "", "sequence": { "sequence": "MVGMSRLRNDRLADPLTGCSVCCKSSWNQLQDLCRLAKLSCPALGISKRNLYDFEVEYLCDYKKIREQEYYLVKWRGYPDSESTWEPRQNLKCVRILKQFHKDLERELLRRHHRSKTPRHLDPSLANYLVQKAKQRRALRRWEQELNAKRSHLGRITVENEVDLDGPPRAFVYINEYRVGEGITLNQVAVGCECQDCLWAPTGGCCPGASLHKFAYNDQGQVRLRAGLPIYECNSRCRCGYDCPNRVVQKGIRYDLCIFRTDDGRGWGVRTLEKIRKNSFVMEYVGEIITSEEAERRGQIYDRQGATYLFDLDYVEDVYTVDAAYYGNISHFVNHSCDPNLQVYNVFIDNLDERLPRIAFFATRTIRAGEELTFDYNMQVDPVDMESTRMDSNFGLAGLPGSPKKRVRIECKCGTESCRKYLF", "length": 423, "header": "sp|O43463-2|SUV91_HUMAN Isoform 2 of Histone-lysine N-methyltransferase SUV39H1 OS=Homo sapiens OX=9606 GN=SUV39H1 PE=1 SV=1 CANONICAL=O43463-1" }, "locus": { "chromosome": "X", "start_pos": 48707567, "end_pos": 48695820, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000337852.10", "url": "https://www.ensembl.org/id/ENST00000337852.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000337976.6", "url": "https://www.ensembl.org/id/ENSP00000337976.6" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 15, "end_pos": 15, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43463", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43463" }, { "database": "PubMed", "id": "23376847", "url": "https://glygen.org/publication/PubMed/23376847" } ], "site_lbl": "Ser15" }, { "start_pos": 268, "end_pos": 268, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43463", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43463" }, { "database": "PubMed", "id": "30784271", "url": "" } ], "site_lbl": "Ser268" }, { "start_pos": 391, "end_pos": 391, "kinase_uniprot_canonical_ac": "P24941-1", "kinase_gene_name": "CDK2", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43463", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43463" }, { "database": "PubMed", "id": "24728993", "url": "https://glygen.org/publication/PubMed/24728993" } ], "site_lbl": "Ser391" }, { "start_pos": 391, "end_pos": 391, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O43463", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43463" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "phospho.ELM", "id": "O43463", "url": "http://phospho.elm.eu.org/byAccession/O43463.html" } ], "site_lbl": "Ser391" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Functional mammalian homologues of the Drosophila PEV-modifier Su(var)3-9 encode centromere-associated proteins which complex with the heterochromatin component M31.", "journal": "EMBO J.", "date": "1999", "authors": "Aagaard L, Laible G, Selenko P, Schmid M, Dorn R, Schotta G, Kuhfittig S, Wolf A, Lebersorger A, Singh PB, Reuter G, Jenuwein T", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" } ], "reference": [ { "type": "PubMed", "id": "10202156", "url": "https://glygen.org/publication/PubMed/10202156" } ] }, { "title": "Mitotic phosphorylation of SUV39H1, a novel component of active centromeres, coincides with transient accumulation at mammalian centromeres.", "journal": "Journal of cell science", "date": "2000", "authors": "Aagaard L, Schmid M, Warburton P, Jenuwein T", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" } ], "reference": [ { "type": "PubMed", "id": "10671371", "url": "https://glygen.org/publication/PubMed/10671371" } ] }, { "title": "Set domain-dependent regulation of transcriptional silencing and growth control by SUV39H1, a mammalian ortholog of Drosophila Su(var)3-9.", "journal": "Mol. Cell. Biol.", "date": "2000", "authors": "Firestein R, Cui X, Huie P, Cleary M L", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" } ], "reference": [ { "type": "PubMed", "id": "10848615", "url": "https://glygen.org/publication/PubMed/10848615" } ] }, { "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": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" }, { "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": "Methylation of histone H3 lysine 9 creates a binding site for HP1 proteins.", "journal": "Nature", "date": "2001", "authors": "Lachner M, O'Carroll D, Rea S, Mechtler K, Jenuwein T", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" } ], "reference": [ { "type": "PubMed", "id": "11242053", "url": "https://glygen.org/publication/PubMed/11242053" } ] }, { "title": "Rb targets histone H3 methylation and HP1 to promoters.", "journal": "Nature", "date": "2001", "authors": "Nielsen S J, Schneider R, Bauer U M, Bannister A J, Morrison A, O'Carroll D, Firestein R, Cleary M, Jenuwein T, Herrera R E, Kouzarides T", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" } ], "reference": [ { "type": "PubMed", "id": "11484059", "url": "https://glygen.org/publication/PubMed/11484059" } ] }, { "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": "Selective interactions between vertebrate polycomb homologs and the SUV39H1 histone lysine methyltransferase suggest that histone H3-K9 methylation contributes to chromosomal targeting of Polycomb group proteins.", "journal": "Mol. Cell. Biol.", "date": "2002", "authors": "Sewalt Richard G A B, Lachner Monika, Vargas Mark, Hamer Karien M, den Blaauwen Jan L, Hendrix Thijs, Melcher Martin, Schweizer Dieter, Jenuwein Thomas, Otte Arie P", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" } ], "reference": [ { "type": "PubMed", "id": "12101246", "url": "https://glygen.org/publication/PubMed/12101246" } ] }, { "title": "Methylation of H3-lysine 79 is mediated by a new family of HMTases without a SET domain.", "journal": "Current biology : CB", "date": "2002", "authors": "Feng Q, Wang H, Ng HH, Erdjument-Bromage H, Tempst P, Struhl K, Zhang Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "12123582", "url": "https://glygen.org/publication/PubMed/12123582" } ] }, { "title": "G9a histone methyltransferase plays a dominant role in euchromatic histone H3 lysine 9 methylation and is essential for early embryogenesis.", "journal": "Genes & development", "date": "2002", "authors": "Tachibana M, Sugimoto K, Nozaki M, Ueda J, Ohta T, Ohki M, Fukuda M, Takeda N, Niida H, Kato H, Shinkai Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "12130538", "url": "https://glygen.org/publication/PubMed/12130538" } ] }, { "title": "MLL targets SET domain methyltransferase activity to Hox gene promoters.", "journal": "Molecular cell", "date": "2002", "authors": "Milne TA, Briggs SD, Brock HW, Martin ME, Gibbs D, Allis CD, Hess JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "12453418", "url": "https://glygen.org/publication/PubMed/12453418" } ] }, { "title": "Structure and catalytic mechanism of the human histone methyltransferase SET7/9.", "journal": "Nature", "date": "2003", "authors": "Xiao B, Jing C, Wilson JR, Walker PA, Vasisht N, Kelly G, Howell S, Taylor IA, Blackburn GM, Gamblin SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "12540855", "url": "https://glygen.org/publication/PubMed/12540855" } ] }, { "title": "Human Sin3 deacetylase and trithorax-related Set1/Ash2 histone H3-K4 methyltransferase are tethered together selectively by the cell-proliferation factor HCF-1.", "journal": "Genes & development", "date": "2003", "authors": "Wysocka J, Myers MP, Laherty CD, Eisenman RN, Herr W", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "12670868", "url": "https://glygen.org/publication/PubMed/12670868" } ] }, { "title": "Methyl-CpG binding domain 1 (MBD1) interacts with the Suv39h1-HP1 heterochromatic complex for DNA methylation-based transcriptional repression.", "journal": "J. Biol. Chem.", "date": "2003", "authors": "Fujita Naoyuki, Watanabe Sugiko, Ichimura Takaya, Tsuruzoe Shu, Shinkai Yoichi, Tachibana Makoto, Chiba Tsutomu, Nakao Mitsuyoshi", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" } ], "reference": [ { "type": "PubMed", "id": "12711603", "url": "https://glygen.org/publication/PubMed/12711603" } ] }, { "title": "pRb2/p130-E2F4/5-HDAC1-SUV39H1-p300 and pRb2/p130-E2F4/5-HDAC1-SUV39H1-DNMT1 multimolecular complexes mediate the transcription of estrogen receptor-alpha in breast cancer.", "journal": "Oncogene", "date": "2003", "authors": "Macaluso Marcella, Cinti Caterina, Russo Giuseppe, Russo Antonio, Giordano Antonio", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" } ], "reference": [ { "type": "PubMed", "id": "12789259", "url": "https://glygen.org/publication/PubMed/12789259" } ] }, { "title": "SUV39H1 interacts with AML1 and abrogates AML1 transactivity. AML1 is methylated in vivo.", "journal": "Oncogene", "date": "2003", "authors": "Chakraborty S, Sinha KK, Senyuk V, Nucifora G", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" } ], "reference": [ { "type": "PubMed", "id": "12917624", "url": "https://glygen.org/publication/PubMed/12917624" } ] }, { "title": "mAM facilitates conversion by ESET of dimethyl to trimethyl lysine 9 of histone H3 to cause transcriptional repression.", "journal": "Molecular cell", "date": "2003", "authors": "Wang H, An W, Cao R, Xia L, Erdjument-Bromage H, Chatton B, Tempst P, Roeder RG, Zhang Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "14536086", "url": "https://glygen.org/publication/PubMed/14536086" } ] }, { "title": "Histone methyltransferases direct different degrees of methylation to define distinct chromatin domains.", "journal": "Molecular cell", "date": "2003", "authors": "Rice JC, Briggs SD, Ueberheide B, Barber CM, Shabanowitz J, Hunt DF, Shinkai Y, Allis CD", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "14690610", "url": "https://glygen.org/publication/PubMed/14690610" } ] }, { "title": "A Suv39h-dependent mechanism for silencing S-phase genes in differentiating but not in cycling cells.", "journal": "The EMBO journal", "date": "2004-02-11", "authors": "Ait-Si-Ali Slimane, Guasconi Valentina, Fritsch Lauriane, Yahi Hakima, Sekhri Redha, Naguibneva Irina, Robin Philippe, Cabon Florence, Polesskaya Anna, Harel-Bellan Annick", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" } ], "reference": [ { "type": "PubMed", "id": "14765126", "url": "https://glygen.org/publication/PubMed/14765126" } ] }, { "title": "Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus.", "journal": "Molecular cell", "date": "2004", "authors": "Hughes CM, Rozenblatt-Rosen O, Milne TA, Copeland TD, Levine SS, Lee JC, Hayes DN, Shanmugam KS, Bhattacharjee A, Biondi CA, Kay GF, 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": "Suv39h histone methyltransferases interact with Smads and cooperate in BMP-induced repression.", "journal": "Oncogene", "date": "2004", "authors": "Frontelo P, Leader JE, Yoo N, Potocki AC, Crawford M, Kulik M, Lechleider RJ", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" } ], "reference": [ { "type": "PubMed", "id": "15107829", "url": 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methyltransferase SETD3 regulates muscle differentiation.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Eom GH, Kim KB, Kim JH, Kim JY, Kim JR, Kee HJ, Kim DW, Choe N, Park HJ, Son HJ, Choi SY, Kook H, Seo SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "21832073", "url": "https://glygen.org/publication/PubMed/21832073" } ] }, { "title": "NSD2 links dimethylation of histone H3 at lysine 36 to oncogenic programming.", "journal": "Molecular cell", "date": "2011", "authors": "Kuo AJ, Cheung P, Chen K, Zee BM, Kioi M, Lauring J, Xi Y, Park BH, Shi X, Garcia BA, Li W, Gozani O", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "22099308", "url": "https://glygen.org/publication/PubMed/22099308" } ] }, { "title": "Prdm3 and Prdm16 are H3K9me1 methyltransferases required for mammalian heterochromatin integrity.", "journal": "Cell", "date": "2012", "authors": "Pinheiro I, Margueron R, Shukeir N, Eisold M, Fritzsch C, Richter FM, Mittler G, Genoud C, Goyama S, Kurokawa M, Son J, Reinberg D, Lachner M, Jenuwein T", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "22939622", "url": "https://glygen.org/publication/PubMed/22939622" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" }, { "database": "iPTMnet", "id": "O43463", "url": 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Commun.", "date": "2013", "authors": "Liu Baohua, Wang Zimei, Zhang Le, Ghosh Shrestha, Zheng Huiling, Zhou Zhongjun", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" } ], "reference": [ { "type": "PubMed", "id": "23695662", "url": "https://glygen.org/publication/PubMed/23695662" } ] }, { "title": "Regulation of SirT1-nucleomethylin binding by rRNA coordinates ribosome biogenesis with nutrient availability.", "journal": "Molecular and cellular biology", "date": "2013", "authors": "Yang L, Song T, Chen L, Kabra N, Zheng H, Koomen J, Seto E, Chen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-427359", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427359" } ], "reference": [ { "type": "PubMed", "id": "23897426", "url": "https://glygen.org/publication/PubMed/23897426" } ] }, { "title": "CDK2-dependent phosphorylation of Suv39H1 is involved in control of heterochromatin replication during cell cycle progression.", "journal": "Nucleic acids research", "date": "2014", "authors": "Park SH, Yu SE, Chai YG, Jang YK", "evidence": [ { "database": "iPTMnet", "id": "O43463", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43463" } ], "reference": [ { "type": "PubMed", "id": "24728993", "url": "https://glygen.org/publication/PubMed/24728993" } ] }, { "title": "Histone methyltransferase SUV39H1 participates in host defense by methylating mycobacterial histone-like protein HupB.", "journal": "The EMBO journal", "date": "2018-01-17", "authors": "Yaseen Imtiyaz, Choudhury Mitali, Sritharan Manjula, Khosla Sanjeev", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" } ], "reference": [ { "type": "PubMed", "id": "29170282", "url": "https://glygen.org/publication/PubMed/29170282" } ] }, { "title": "DCAF13 promotes pluripotency by negatively regulating SUV39H1 stability during early embryonic development.", "journal": "The EMBO journal", "date": "2018", "authors": "Zhang YL, Zhao LW, Zhang J, Le R, Ji SY, Chen C, Gao Y, Li D, Gao S, Fan HY", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" } ], "reference": [ { "type": "PubMed", "id": "30111536", "url": "https://glygen.org/publication/PubMed/30111536" } ] }, { "title": "Differences in SUV39H1 and androgen receptor distribution in adenomyomatous hyperplasia and prostatic adenocarcinoma.", "journal": "Nigerian journal of clinical practice", "date": "2022", "authors": "Celik MA, Erdem H, Cankaya S, Arici YK", "evidence": [ { "database": "RefSeq", "id": "NP_001269095", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269095" } ], "reference": [ { "type": "PubMed", "id": "36149194", "url": "https://glygen.org/publication/PubMed/36149194" } ] }, { "title": "Decreased SUV39H1 at the promoter region leads to increased CREM\u03b1 and accelerates autoimmune response in CD4+ T cells from patients with systemic lupus erythematosus.", "journal": "Clinical epigenetics", "date": "2022-12-20", "authors": "Luo Shuangyan, Zhang Huilin, Xie Yuming, Huang Junke, Luo Danhong, Zhang Qing", "evidence": [ { "database": "RefSeq", "id": "NP_001269095", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269095" } ], "reference": [ { "type": "PubMed", "id": "36536372", "url": "https://glygen.org/publication/PubMed/36536372" } ] }, { "title": "SUV39H1 is a prognosis and immune microenvironment-related biomarker in diffuse large B-cell lymphoma.", "journal": "Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico", "date": "2023-08", "authors": "Zhang Yue, Qian Siyu, Wen Qing, Lei Yaxin, Ge Jingjing, Kong Xiaoshuang, Wang Wenhua, Wang Zeyuan, Hou Huting, Tang Canwei, Wu Shaoxuan, Wang Guannan, Li Wencai, Zhang Mingzhi, Zhang Xudong, Chen Qingjiang", "evidence": [ { "database": "RefSeq", "id": "NP_001269095", "url": 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"" }, { "name": "regulation of transcription by glucose", "id": "GO:0046015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046015", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" } ], "pmid": "" }, { "name": "epigenetic programming in the zygotic pronuclei", "id": "GO:0044725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044725", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 12, "go_terms": [ { "name": "condensed nuclear chromosome", "id": "GO:0000794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000794", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" } ], "pmid": "" }, { "name": "chromosome, 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"https://glygen.org/publication/PubMed/29170282" } ] }, { "annotation": "Acetylated at Lys-266, leading to inhibition of enzyme activity. SIRT1-mediated deacetylation relieves this inhibition.", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" }, { "database": "PubMed", "id": "18004385", "url": "https://glygen.org/publication/PubMed/18004385" } ] }, { "annotation": "Phosphorylated on serine residues, and to a lesser degree, on threonine residues. The phosphorylated form is stabilized by SBF1 and is less active in its transcriptional repressor function.", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" }, { "database": "PubMed", "id": "10671371", "url": "https://glygen.org/publication/PubMed/10671371" } ] }, { "annotation": "Ubiquitinated by the DCX(DCAF13) E3 ubiquitin ligase complex, leading to its degradation.", "evidence": [ { "database": "UniProtKB", "id": "O43463", "url": "https://www.uniprot.org/uniprot/O43463" }, { "database": "PubMed", "id": "30111536", "url": "https://glygen.org/publication/PubMed/30111536" } ] } ], "interactions": [], "reactions": [ { "id": "60276", "name": "", "equation": "L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-homocysteine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q63755-1", "P0C6Y7-1", "D3ZIH5-1", "B1H256-1", "A0A8I6A878-1", "Q13029-1", "Q9H5I1-1", "O43463-1", "Q9NQV7-1", "O54864-1", "Q9EQQ0-1", "Q96EQ9-1", "Q32KD2-1", "P20659-1", "P45975-1" ], "evidence": [ { "id": "60276", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/60276" } ] }, { "id": "R-HSA-427514", "name": "eNoSC deacetylates histone H3", "equation": "", "summary": "The Sirtuin-1 (SIRT1) component of eNoSC deacetylates histone H3 at lysine-9 (Vaquero et al. 2004, Murayama et al. 2008). The reaction uses nicotinamide adenine dinucleotide (NAD) as the acceptor of the acetyl group and generates nicotinamide and 1-O-acetyl-ADP-ribose as products (Vaquero et al. 2004). The use of NAD links the reaction to the overall energy balance of the cell. Cells exposed to high glucose have a greater NADH:NAD ratio and therefore lower activity of eNoSC (Murayama et al. 2008). Low glucose produces higher NAD and higher activity of eNoSC.", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q96EB6-1", "O43463-1", "O43159-1" ], "evidence": [ { "id": "R-HSA-427514", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427514" } ] }, { "id": "R-HSA-427527", "name": "eNoSC dimethylates histone H3 at lysine-9", "equation": "", "summary": "The SUV39H1 component of eNoSC dimethylates histone H3 at lysine-9 (Murayama et al. 2008). The reaction depends on the prior deacetylation reaction catalyzed by the SIRT1 component of eNoSC. Histone H3 dimethylated at lysine-9 inhibits expression of rRNA genes.", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q96EB6-1", "O43463-1", "O43159-1" ], "evidence": [ { "id": "R-HSA-427527", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427527" } ] }, { "id": "R-HSA-427528", "name": "Formation of energy-dependent Nucleolar Silencing Complex (eNoSC)", "equation": "", "summary": "RRP8 (Nucleomethylin, NML), SIRT1, and SUV39H1 form the energy-dependent Nucleolar Silencing Complex (eNoSC) at inactive rRNA genes (Murayama et al. 2008). RRP8 is constitutively located in the nucleolus (Yang et al. 2013), binds histone H3 dimethylated at lysine-9 (Murayama et al. 2008) and appears to recruit SIRT1 from the nucleoplasm to the nucleolus (Yang et al. 2013). The eNoSC binds chromatin throughout the rRNA transcription unit. SIRT1 may deacetylate and, hence, activate SUV39H1 but this has not yet been shown at rDNA. Abrogation of any member of eNoSC interferes with binding of the other members of the complex. The eNoSC complex appears to cause spreading of heterochromatin at rDNA.", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-427517", "R-HSA-427524", "R-HSA-427531" ], "output_participant_list": [ "R-HSA-427510" ], "enzyme_list": [ "Q96EB6-1", "O43463-1", "O43159-1" ], "evidence": [ { "id": "R-HSA-427528", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427528" } ] }, { "id": "R-HSA-4827382", "name": "SUV39H1 (KMT1A), SUV39H2 (KTM1B), SETDB1 (KMT1E), SETDB2 (KMT1F) methylate dimethyl-lysine-10 of histone H3 (H3K9)", "equation": "", "summary": "SUV39H1 (KMT1A) and SUV39H2 (KMT1B) and SETDB2 (KMT1F) selectively methylate lysine-10 of histone H3 (H3K9) (Rea et al. 2000, Rice et al. 2003, Falandry et al. 2010). Their predominant activity is conversion of dimethylated H3K9 to trimethylated H3K9 (Peters et al. 2003, Rice et al. 2003, Chin et al. 2006). SETDB1 (ESET, KMT1E) also predominantly methylates dimethylated H3K9 (Schultz et al. 2002), most effectively when complexed with ATF7IP (MCAF, hAM) (Wang et al. 2003).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q96T68-1", "Q15047-1", "O43463-1", "Q9UPS6-1", "Q9H5I1-1" ], "evidence": [ { "id": "R-HSA-4827382", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4827382" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-427510", "participant_name": "eNoSC [nucleoplasm]", "crossref": [ { "id": "CPX-467", "database": "ComplexPortal", "url": "" } ] }, { "participant_id": "R-HSA-427517", "participant_name": "SUV39H1 [nucleoplasm]", "crossref": [ { "id": "O43463", "database": "UniProt", "url": "" }, { "id": "SUV91_HUMAN", "database": "ZINC - Metabolites", "url": "" }, { "id": "O43463", "database": "ZINC target", "url": "" }, { "id": "O43463", "database": "PRO", "url": "" }, { "id": "ENST00000337852", "database": "Ensembl", "url": "" }, { "id": "O43463", "database": "Pharos - Targets", "url": "" }, { "id": "O43463", "database": "GeneCards", "url": "" }, { "id": "2715", "database": "Guide to Pharmacology - Targets", "url": "" }, { "id": "NP_001269095.1", "database": "RefSeq", "url": "" }, { "id": "ENSP00000365877", "database": "Ensembl", "url": "" }, { "id": "ENSP00000337976", "database": "Ensembl", "url": "" }, { "id": "ENSG00000101945", "database": "Ensembl", "url": "" }, { "id": "SUV91_HUMAN", "database": "ZINC - Predictions - Purchasable", "url": "" }, { "id": "ENST00000376687", "database": "Ensembl", "url": "" }, { "id": "NP_003164.1", "database": "RefSeq", "url": "" }, { "id": "3MTS", "database": "PDB", "url": "" }, { "id": "2.1.1.355", "database": "IntEnz", "url": "" }, { "id": "SUV91_HUMAN", "database": "ZINC - Substances", "url": "" }, { "id": "ENSG00000101945", "database": "OpenTargets", "url": "" }, { "id": "HMDBP00422", "database": "HMDB Protein", "url": "" }, { "id": "ENSG00000101945-SUV39H1", "database": "HPA", "url": "" }, { "id": "SUV91_HUMAN", "database": "ZINC - World Drugs", "url": "" }, { "id": "SUV91_HUMAN", "database": "ZINC - Biogenic", "url": "" } ] }, { "participant_id": "R-HSA-427524", "participant_name": "RRP8 [nucleoplasm]", "crossref": [ { "id": "O43159", "database": "UniProt", "url": "" }, { "id": "O43159", "database": "PRO", "url": "" }, { "id": "2ZFU", "database": "PDB", "url": "" }, { "id": "ENSG00000132275", "database": "Ensembl", "url": "" }, { "id": "ENSP00000254605", "database": "Ensembl", "url": "" }, { "id": "O43159", "database": "GeneCards", "url": "" }, { "id": "O43159", "database": "Pharos - Targets", "url": "" }, { "id": "ENSG00000132275", "database": "OpenTargets", "url": "" }, { "id": "ENST00000254605", "database": "Ensembl", "url": "" }, { "id": "ENSG00000132275-RRP8", "database": "HPA", "url": "" }, { "id": "NP_056139.1", "database": "RefSeq", "url": "" } ] }, { "participant_id": "R-HSA-427531", "participant_name": "SIRT1 [nucleoplasm]", "crossref": [ { "id": "Q96EB6", "database": "UniProt", "url": "" }, { "id": "5BTR", "database": "PDB", "url": "" }, { "id": "ENST00000212015", "database": "Ensembl", "url": "" }, { "id": "ENSG00000096717", "database": "Ensembl", "url": "" }, { "id": "ENSP00000212015", "database": "Ensembl", "url": "" }, { "id": "2.3.1.286", "database": "IntEnz", "url": "" }, { "id": "Q96EB6", "database": "Pharos - Targets", "url": "" }, { "id": "4I5I", "database": "PDB", "url": "" }, { "id": "HMDBP08879", "database": "HMDB Protein", "url": "" }, { "id": "NP_001135970.1", "database": "RefSeq", "url": "" }, { "id": "4ZZI", "database": "PDB", "url": "" }, { "id": "ENSG00000096717", "database": "OpenTargets", "url": "" }, { "id": "SIR1_HUMAN", "database": "ZINC - Substances", "url": "" }, { "id": "24903", "database": "Orphanet", "url": "" }, { "id": "4ZZJ", "database": "PDB", "url": "" }, { "id": "NP_036370.2", "database": "RefSeq", "url": "" }, { "id": "4KXQ", "database": "PDB", "url": "" }, { "id": "Q96EB6", "database": "GeneCards", "url": "" }, { "id": "ENSG00000096717-SIRT1", "database": "HPA", "url": "" }, { "id": "4ZZH", "database": "PDB", "url": "" }, { "id": "Q96EB6", "database": "PRO", "url": "" }, { "id": "SIR1_HUMAN", "database": "ZINC - Investigational", "url": "" }, { "id": "4IF6", "database": "PDB", "url": "" }, { "id": "4IG9", "database": "PDB", "url": "" }, { "id": "NP_001300978.1", "database": "RefSeq", "url": "" }, { "id": "SIR1_HUMAN", "database": "ZINC - Biogenic", "url": "" }, { "id": "Q96EB6", "database": "ZINC target", "url": "" }, { "id": "SIR1_HUMAN", "database": "ZINC - Predictions - Purchasable", "url": "" }, { "id": "2707", "database": "Guide to Pharmacology - Targets", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "A0A8I6A878", "gene_name": "ENSRNOG00000063631", "activity": [ { "ec_number": "2.1.1.355", "activity": "L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "A0A8I6A878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6A878" } ] }, { "ec_number": "2.1.1.355", "activity": "", "evidence": [ { "id": "A0A8I6A878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6A878" } ] } ] }, { "uniprot_ac": "B1H256", "gene_name": "Suv39h1", "activity": [ { "ec_number": "2.1.1.355", "activity": "L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "B1H256", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B1H256" } ] }, { "ec_number": "2.1.1.355", "activity": "", "evidence": [ { "id": "B1H256", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B1H256" } ] } ] }, { "uniprot_ac": "D3ZIH5", "gene_name": "Suv39h2", "activity": [ { "ec_number": "2.1.1.355", "activity": "L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "D3ZIH5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZIH5" } ] }, { "ec_number": "2.1.1.355", "activity": "", "evidence": [ { "id": "D3ZIH5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZIH5" } ] } ] }, { "uniprot_ac": "O43159", "gene_name": "RRP8", "activity": [ { "ec_number": "2.1.1.-", "activity": "", "evidence": [ { "id": "O43159", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43159" } ] } ] }, { "uniprot_ac": "O43463", "gene_name": "SUV39H1", "activity": [ { "ec_number": "2.1.1.355", "activity": "L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "O43463", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43463" } ] }, { "ec_number": "2.1.1.355", "activity": "", "evidence": [ { "id": "O43463", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43463" } ] } ] }, { "uniprot_ac": "O54864", "gene_name": "Suv39h1", "activity": [ { "ec_number": "2.1.1.355", "activity": "L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "O54864", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54864" } ] }, { "ec_number": "2.1.1.355", "activity": "", "evidence": [ { "id": "O54864", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54864" } ] } ] }, { "uniprot_ac": "P0C6Y7", "gene_name": "Prdm9", "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": "P0C6Y7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0C6Y7" } ] }, { "ec_number": "2.1.1.-", "activity": "", "evidence": [ { "id": "P0C6Y7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0C6Y7" } ] }, { "ec_number": "2.1.1.355", "activity": "L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "P0C6Y7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0C6Y7" } ] }, { "ec_number": "2.1.1.354", "activity": "L-lysyl(4)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(4)-[histone H3] + 3 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "P0C6Y7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0C6Y7" } ] }, { "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": "P0C6Y7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0C6Y7" } ] }, { "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": "P0C6Y7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0C6Y7" } ] } ] }, { "uniprot_ac": "P20659", "gene_name": "trx", "activity": [ { "ec_number": "2.1.1.-", "activity": "", "evidence": [ { "id": "P20659", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20659" } ] }, { "ec_number": "2.1.1.355", "activity": "L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "P20659", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20659" } ] }, { "ec_number": "2.1.1.355", "activity": "", "evidence": [ { "id": "P20659", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20659" } ] } ] }, { "uniprot_ac": "P45975", "gene_name": "Su(var)3-9", "activity": [ { "ec_number": "2.1.1.355", "activity": "L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "P45975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P45975" } ] }, { "ec_number": "2.1.1.355", "activity": "", "evidence": [ { "id": "P45975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P45975" } ] } ] }, { "uniprot_ac": "Q13029", "gene_name": "PRDM2", "activity": [ { "ec_number": "2.1.1.355", "activity": "L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q13029", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13029" } ] }, { "ec_number": "2.1.1.355", "activity": "", "evidence": [ { "id": "Q13029", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13029" } ] } ] }, { "uniprot_ac": "Q15047", "gene_name": "SETDB1", "activity": [ { "ec_number": "2.1.1.366", "activity": "N(6),N(6)-dimethyl-L-lysyl(9)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q15047", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15047" } ] }, { "ec_number": "2.1.1.366", "activity": "", "evidence": [ { "id": "Q15047", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15047" } ] } ] }, { "uniprot_ac": "Q32KD2", "gene_name": "egg", "activity": [ { "ec_number": "2.1.1.355", "activity": "L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q32KD2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q32KD2" } ] }, { "ec_number": "2.1.1.355", "activity": "", "evidence": [ { "id": "Q32KD2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q32KD2" } ] } ] }, { "uniprot_ac": "Q63755", "gene_name": "Prdm2", "activity": [ { "ec_number": "2.1.1.355", "activity": "L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q63755", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q63755" } ] }, { "ec_number": "2.1.1.355", "activity": "", "evidence": [ { "id": "Q63755", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q63755" } ] } ] }, { "uniprot_ac": "Q96EB6", "gene_name": "SIRT1", "activity": [ { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q96EB6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96EB6" } ] }, { "ec_number": "2.3.1.286", "activity": "H2O + N(6)-acetyl-L-lysyl-[protein] + NAD(+) = 2''-O-acetyl-ADP-D-ribose + L-lysyl-[protein] + nicotinamide.", "evidence": [ { "id": "Q96EB6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96EB6" } ] }, { "ec_number": "2.3.1.286", "activity": "", "evidence": [ { "id": "Q96EB6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96EB6" } ] } ] }, { "uniprot_ac": "Q96EQ9", "gene_name": "Prdm9", "activity": [ { "ec_number": "2.1.1.43", "activity": "", "evidence": [ { "id": "Q96EQ9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96EQ9" } ] }, { "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": "Q96EQ9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96EQ9" } ] }, { "ec_number": "2.1.1.-", "activity": "", "evidence": [ { "id": "Q96EQ9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96EQ9" } ] }, { "ec_number": "2.1.1.355", "activity": "L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q96EQ9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96EQ9" } ] }, { "ec_number": "2.1.1.354", "activity": "L-lysyl(4)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(4)-[histone H3] + 3 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q96EQ9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96EQ9" } ] }, { "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": "Q96EQ9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96EQ9" } ] }, { "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": "Q96EQ9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96EQ9" } ] } ] }, { "uniprot_ac": "Q96T68", "gene_name": "SETDB2", "activity": [ { "ec_number": "2.1.1.366", "activity": "N(6),N(6)-dimethyl-L-lysyl(9)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q96T68", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96T68" } ] }, { "ec_number": "2.1.1.366", "activity": "", "evidence": [ { "id": "Q96T68", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96T68" } ] } ] }, { "uniprot_ac": "Q9EQQ0", "gene_name": "Suv39h2", "activity": [ { "ec_number": "2.1.1.355", "activity": "L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q9EQQ0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9EQQ0" } ] }, { "ec_number": "2.1.1.355", "activity": "", "evidence": [ { "id": "Q9EQQ0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9EQQ0" } ] } ] }, { "uniprot_ac": "Q9H5I1", "gene_name": "SUV39H2", "activity": [ { "ec_number": "2.1.1.355", "activity": "L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q9H5I1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H5I1" } ] }, { "ec_number": "2.1.1.355", "activity": "", "evidence": [ { "id": "Q9H5I1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H5I1" } ] } ] }, { "uniprot_ac": "Q9NQV7", "gene_name": "PRDM9", "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 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