{ "uniprot_canonical_ac": "O94953-1", "uniprot_ac": "O94953", "uniprot_id": "KDM4B_HUMAN", "mass": { "chemical_mass": 121897.0, "monoisotopic_mass": 121897.0 }, "refseq": { "ac": "NP_055830", "name": "lysine-specific demethylase 4B isoform 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055830" }, "gene_names": [ { "name": "KDM4B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O94953", "id": "O94953" }, { "name": "JHDM3B", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94953", "id": "O94953" }, { "name": "JMJD2B; MRD65; TDRD14B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055830", "id": "NP_055830" }, { "name": "JMJD2B", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94953", "id": "O94953" }, { "name": "KDM4B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055830", "id": "NP_055830" }, { "name": "KIAA0876", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94953", "id": "O94953" } ], "protein_names": [ { "name": "Lysine-specific demethylase 4B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O94953" }, { "name": "1.14.11.66", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94953" }, { "name": "JmjC domain-containing histone demethylation protein 3B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94953" }, { "name": "Jumonji domain-containing protein 2B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94953" }, { "name": "[histone H3]-trimethyl-L-lysine(9) demethylase 4B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94953" }, { "name": "jumonji domain containing 2B; lysine-specific demethylase 4B; lysine (K)-specific demethylase 4B; jumonji domain-containing protein 2B; jmjC domain-containing histone demethylation protein 3B; tudor domain containing 14B; [histone H3]-trimethyl-L-lysine(9) demethylase 4B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055830", "id": "NP_055830" }, { "name": "lysine-specific demethylase 4B isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055830", "id": "NP_055830" } ], "function": [ { "annotation": "HIF1alpha-mediated transactivation of WTAP promotes AML cell proliferation via m[6]A-dependent stabilization of KDM4B mRNA.", "evidence": [ { "database": "RefSeq", "id": "NP_055830", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055830" }, { "database": "PubMed", "id": "37087529", "url": "https://glygen.org/publication/PubMed/37087529" } ] }, { "annotation": "Histone H3K9 demethylase JMJD2B/KDM4B promotes osteogenic differentiation of bone marrow-derived mesenchymal stem cells by regulating H3K9me2 on RUNX2. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_055830", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055830" }, { "database": "PubMed", "id": "36217382", "url": "https://glygen.org/publication/PubMed/36217382" } ] }, { "annotation": "Histone demethylase KDM4B accelerates the progression of glioblastoma via the epigenetic regulation of MYC stability. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_055830", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055830" }, { "database": "PubMed", "id": "38093312", "url": "https://glygen.org/publication/PubMed/38093312" } ] }, { "annotation": "Histone demethylase KDM4B contributes to advanced clear cell renal carcinoma and association with copy number variations and cell cycle progression.", "evidence": [ { "database": "RefSeq", "id": "NP_055830", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055830" }, { "database": "PubMed", "id": "36952476", "url": "https://glygen.org/publication/PubMed/36952476" } ] }, { "annotation": "Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a role in histone code. Does not demethylate histone H3 'Lys-4', H3 'Lys-27', H3 'Lys-36' nor H4 'Lys-20'. Only able to demethylate trimethylated H3 'Lys-9', with a weaker activity than KDM4A, KDM4C and KDM4D. Demethylation of Lys residue generates formaldehyde and succinate (PubMed:16603238, PubMed:28262558). Plays a critical role in the development of the central nervous system (CNS).", "evidence": [ { "database": "UniProtKB", "id": "O94953", "url": "https://www.uniprot.org/uniprot/O94953#function" }, { "database": "PubMed", "id": "16603238", "url": "https://glygen.org/publication/PubMed/16603238" }, { "database": "PubMed", "id": "28262558", "url": "https://glygen.org/publication/PubMed/28262558" }, { "database": "UniProtKB", "id": "Q91VY5", "url": "https://www.uniprot.org/uniprot/Q91VY5#function" } ] }, { "annotation": "Loss of KDM4B impairs osteogenic differentiation of OMSCs and promotes oral bone aging. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_055830", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055830" }, { "database": "PubMed", "id": "35525910", "url": "https://glygen.org/publication/PubMed/35525910" } ] } ], "disease": [ { "disease_id": "MONDO:0023657", "recommended_name": { "id": "MONDO:0023657", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023657", "name": "intellectual developmental disorder, autosomal dominant 65", "description": "" }, "synonyms": [ { "id": "MONDO:0023657", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023657", "name": "MRD65", "description": "" }, { "id": "MONDO:0023657", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023657", "name": "mental retardation, autosomal dominant 65", "description": "" }, { "id": "MIM:619320", "resource": "MIM", "url": "https://www.omim.org/entry/619320", "name": "Intellectual developmental disorder, autosomal dominant 65", "description": "Intellectual developmental disorder, autosomal dominant 65" } ], "evidence": [ { "id": "619320", "database": "MIM", "url": "https://www.omim.org/entry/619320" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 189, "end_pos": 191, "sequence_org": "HTE", "sequence_mut": "ATA", "comment": "Abolishes lysine-specific histone demethylase activity.", "evidence": [ { "database": "UniProtKB", "id": "O94953", "url": "https://www.uniprot.org/uniprot/O94953" }, { "database": "PubMed", "id": "28262558", "url": "https://glygen.org/publication/PubMed/28262558" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "81.54", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000127663", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127663" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "88.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000127663", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127663" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "83.42", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000127663", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127663" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "93.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000127663", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127663" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "89.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000127663", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127663" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "77.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000127663", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127663" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "84.94", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000127663", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127663" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "85.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000127663", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127663" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "93.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000127663", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127663" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "83.97", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000127663", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127663" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "89.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000127663", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127663" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "94.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000127663", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127663" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "89.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000127663", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127663" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O94953", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94953" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, 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}, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O94953", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94953" } ], "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", 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"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", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "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": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O94953", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94953" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"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": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O94953", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94953" } ], "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. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94953" } ], "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 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{ "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 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94953" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"https://www.reactome.org/PathwayBrowser/#R-HSA-9018519", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_055830", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055830", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "60200", "url": "https://www.rhea-db.org/rhea/60200", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A0C4DFL8", "url": "https://www.uniprot.org/uniprot/A0A0C4DFL8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0C4DFL8-1", "url": "https://www.uniprot.org/uniprot/A0A0C4DFL8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GX28", "url": "https://www.uniprot.org/uniprot/F5GX28", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GX28-1", "url": "https://www.uniprot.org/uniprot/F5GX28-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQ54", "url": "https://www.uniprot.org/uniprot/K7EQ54", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQ54-1", "url": "https://www.uniprot.org/uniprot/K7EQ54-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ES23", "url": "https://www.uniprot.org/uniprot/K7ES23", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ES23-1", "url": "https://www.uniprot.org/uniprot/K7ES23-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94953", "url": "https://www.uniprot.org/uniprot/O94953", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94953-1", "url": "https://www.uniprot.org/uniprot/O94953-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94953-2", "url": "https://www.uniprot.org/uniprot/O94953-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGSEDHGAQNPSCKIMTFRPTMEEFKDFNKYVAYIESQGAHRAGLAKIIPPKEWKPRQTYDDIDDVVIPAPIQQVVTGQSGLFTQYNIQKKAMTVGEYRRLANSEKYCTPRHQDFDDLERKYWKNLTFVSPIYGADISGSLYDDDVAQWNIGSLRTILDMVERECGTIIEGVNTPYLYFGMWKTTFAWHTEDMDLYSINYLHFGEPKSWYAIPPEHGKRLERLAIGFFPGSSQGCDAFLRHKMTLISPIILKKYGIPFSRITQEAGEFMITFPYGYHAGFNHGFNCAESTNFATLRWIDYGKVATQCTCRKDMVKISMDVFVRILQPERYELWKQGKDLTVLDHTRPTALTSPELSSWSASRASLKAKLLRRSHRKRSQPKKPKPEDPKFPGEGTAGAALLEEAGGSVKEEAGPEVDPEEEEEEPQPLPHGREAEGAEEDGRGKLRPTKAKSERKKKSFGLLPPQLPPPPAHFPSEEALWLPSPLEPPVLGPGPAAMEESPLPAPLNVVPPEVPSEELEAKPRPIIPMLYVVPRPGKAAFNQEHVSCQQAFEHFAQKGPTWKEPVSPMELTGPEDGAASSGAGRMETKARAGEGQAPSTFSKLKMEIKKSRRHPLGRPPTRSPLSVVKQEASSDEEASPFSGEEDVSDPDALRPLLSLQWKNRAASFQAERKFNAAAARTEPYCAICTLFYPYCQALQTEKEAPIASLGKGCPATLPSKSRQKTRPLIPEMCFTSGGENTEPLPANSYIGDDGTSPLIACGKCCLQVHASCYGIRPELVNEGWTCSRCAAHAWTAECCLCNLRGGALQMTTDRRWIHVICAIAVPEARFLNVIERHPVDISAIPEQRWKLKCVYCRKRMKKVSGACIQCSYEHCSTSFHVTCAHAAGVLMEPDDWPYVVSITCLKHKSGGHAVQLLRAVSLGQVVITKNRNGLYYRCRVIGAASQTCYEVNFDDGSYSDNLYPESITSRDCVQLGPPSEGELVELRWTDGNLYKAKFISSVTSHIYQVEFEDGSQLTVKRGDIFTLEEELPKRVRSRLSLSTGAPQEPAFSGEEAKAAKRPRVGTPLATEDSGRSQDYVAFVESLLQVQGRPGAPF", "length": 1096, "header": "sp|O94953-1|KDM4B_HUMAN Isoform 1 of Lysine-specific demethylase 4B OS=Homo sapiens OX=9606 GN=KDM4B PE=1 SV=4 CANONICAL=O94953-1" }, "isoforms": [ { "isoform_ac": "A0A0C4DFL8-1", "url": "", "sequence": { "sequence": "MGSEDHGAQNPSCKIMTFRPTMEEFKDFNKYVAYIESQGAHRAGLAKIIPPKEWKPRQTYDDIDDVVIPAPIQQVVTGQSGLFTQYNIQKKAMTVGEYRRLANSEKYCTPRHQDFDDLERKYWKNLTFVSPIYGADISGSLYDDDVAQWNIGSLRTILDMVERECGTIIEGVNTPYLYFGMWKTTFAWHTEDMDLYSINYLHFGEPKSWYAIPPEHGKRLERLAIGFFPGSSQGCDAFLRHKMTLISPIILKKYGIPFSRITQEAGEFMITFPYGYHAGFNHGFNCAESTNFATLRWIDYGKVATQCTCRKDMVKISMDVFVRILQPERYELWKQGKDLTVLDHTRPTALTSPELSSWSASRASLKAKLLRRSHRKRSQPKKPKPEDPKFPGEGTAGAALLEEAGGSVKEEAGPEVDPEEEEEEPQPLPHGREAEGAEEDGRGKLRPTKAKSERKKKSFGLLPPQLPPPPAHFPSEEALWLPSPLEPPVLGPGPAAMEESPLPAPLNVVPPEVPSEELEAKPRPIIPMLYVVPRPGKAAFNQEHVSCQQAFEHFAQKGPTWKEPVSPMELTGPEDGAASSGAGRMETKARAGEGQAPSTFSKLKMEIKKSRRHPLGRPPTRSPLSVVKQEASSDEEASPFSGEEDVSDPDALRPLLSLQWKNRAASFQAERKFNAAAARTEPYCAICTLFYPYCQALQTEKEAPIASLGEGCPATLPSKSRQKTRPLIPEMCFTSGGENTEPLPANSYIGDDGTSPLIACGKCCLQVHASCYGIRPELVNEGWTCSRCAAHAWTAECCLCNLRGGALQMTTDRRWIHVICAIAVPEARFLNVIERHPVDISAIPEQRWKLKCVYCRKRMKKVSGACIQCSYEHCSTSFHVTCAHAAGVLMEPDDWPYVVSITCLKHKSGGHAVQLLRAVSLGQVVITKNRNGLYYRCRVIGAASQTCYEVNFDDGSYSDNLYPESITSRDCVQLGPPSEGELVELRWTDGNLYKAKFISSVTSHIYQVEFEDGSQLTVKRGDIFTLEEELPKRVRSRLSLSTGAPQEPAFSGEEAKAAKRPRVGTPLATEDSGRSQDYVAFVESLLQVQGRPGAPF", "length": 1096, "header": "tr|A0A0C4DFL8-1|A0A0C4DFL8_HUMAN Computationally mapped isoform of [histone H3]-trimethyl-L-lysine(9) demethylase OS=Homo sapiens OX=9606 GN=KDM4B PE=1 SV=1 CANONICAL=O94953-1" }, "locus": { "chromosome": "19", "start_pos": 5151508, "end_pos": 5032891, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000159111.9", "url": "https://www.ensembl.org/id/ENST00000159111.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000159111.3", "url": "https://www.ensembl.org/id/ENSP00000159111.3" } ] } }, { "isoform_ac": "F5GX28-1", "url": "", "sequence": { "sequence": "MGSEDHGAQNPSCKIMTFRPTMEEFKDFNKYVAYIESQGAHRAGLAKIIPPKEWKPRQTYDDIDDVVIPAPIQQVVTGQSGLFTQYNIQKKAMTVGEYRRLANSEKYCTPRHQDFDDLERKYWKNLTFVSPIYGADISGSLYDDDVAQWNIGSLRTILDMVERECGTIIEGVNTPYLYFGMWKTTFAWHTEDMDLYSINYLHFGEPKSWYAIPPEHGKRLERLAIGFFPGSSQGCDAFLRHKMTLISPIILKKYGIPFSRITQEAGEFMITFPYGYHAGFNHGFNCAESTNFATLRWIDYGKVATQCTCRKDMVKISMDVFVRILQPERYELWKQGKDLTVLDHTRPTALTSPELSSWSASRASLKAKLLRRQISLKENRHWRKTEEERKPSLERKKEQTKRPGLSSHRKRSQPKKPKPEDPKFPGEGTAGAALLEEAGGSVKEEAGPEVDPEEEEEEPQPLPHGREAEGAEEDGRGKLRPTKAKSERKKKSFGLLPPQLPPPPAHFPSEEALWLPSPLEPPVLGPGPAAMEESPLPAPLNVVPPEVPSEELEAKPRPIIPMLYVVPRPGKAAFNQEHVSCQQAFEHFAQKGPTWKEPVSPMELTGPEDGAASSGAGRMETKARAGEGQAPSTFSKLKMEIKKSRRHPLGRPPTRSPLSVVKQEASSDEEASPFSGEEDVSDPDALRPLLSLQWKNRAASFQAERKFNAAAARTEPYCAICTLFYPYCQALQTEKEAPIASLGEGCPATLPSKSRQKTRPLIPEMCFTSGGENTEPLPANSYIGDDGTSPLIACGKCCLQVHASCYGIRPELVNEGWTCSRCAAHAWTAECCLCNLRGGALQMTTDRRWIHVICAIAVPEARFLNVIERHPVDISAIPEQRWKLKCVYCRKRMKKVSGACIQCSYEHCSTSFHVTCAHAAGVLMEPDDWPYVVSITCLKHKSGGHAVQLLRAVSLGQVVITKNRNGLYYRCRVIGAASQTCYEVNFDDGSYSDNLYPESITSRDCVQLGPPSEGELVELRWTDGNLYKAKFISSVTSHIYQVEFEDGSQLTVKRGDIFTLEEELPKRVRSRLSLSTGAPQEPAFSGEEAKAAKRPRVGTPLATEDSGRSQDYVAFVESLLQVQGRPGAPF", "length": 1130, "header": "tr|F5GX28-1|F5GX28_HUMAN Computationally mapped isoform of [histone H3]-trimethyl-L-lysine(9) demethylase OS=Homo sapiens OX=9606 GN=KDM4B PE=1 SV=2 CANONICAL=O94953-1" }, "locus": { "chromosome": "19", "start_pos": 5151508, "end_pos": 5032891, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000611640.4", "url": "https://www.ensembl.org/id/ENST00000611640.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000480642.1", "url": "https://www.ensembl.org/id/ENSP00000480642.1" } ] } }, { "isoform_ac": "K7EQ54-1", "url": "", "sequence": { "sequence": "XTNFATLRWIDYGKVATQCTCRKDMVKISMDVFVRILQPERYELWKQGKDLTVLDHTRPTALTSPELSSWSASRASLKAKLLRRQISLKENRHWRKTEEERKPSLERKKEQTKRPGLSSHRKRSQPKKPKPEDPKFPGEGTAGAALLEEAGGSVKEEAGPEVDPEEEEEEPQPLPHGREAEGAEEDGRGKLRPTKAKSERKKKSFGLLPPQLPPPPAHFPSEEALWLPSPLEPPVLGPGPAAMEESPLPAPLNVVPPEVPSEELEAKPRPIIPMLYVVPRPGKAAFNQEHVSCQQAFEHFAQKGPTWKEPVSPMELTGPEDGAASSGAGRMETKARAGEGQAPSTFSKLKMEIKKSRRHPLGRPPTRSPLSVVKQEASSDEEASPFSGEEDVSDPDALRPLLSLQWKNRAASFQAERKFNAAAARTEPYCAICTLFYPYCQALQTEKEAPIASLGEGCPATLPSKSRQKTRPLIPEMCFTSGGENTEPLPANSYIGDDGTSPLIACGKCCLQVHASCYGIRPELVNEGWTCSRCAAHAWTAECCLCNLRGGALQMTTDRRWIHVICAIAVPEARFLNVIERHPVDISAIPEQRWKLVRSLGPGGAWPIMAWAAALQGCLLHTL", "length": 623, "header": "tr|K7EQ54-1|K7EQ54_HUMAN Computationally mapped isoform of Lysine demethylase 4B OS=Homo sapiens OX=9606 GN=KDM4B PE=1 SV=2 CANONICAL=O94953-1" }, "locus": { "chromosome": "19", "start_pos": 5140333, "end_pos": 5082452, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000588361.1", "url": "https://www.ensembl.org/id/ENST00000588361.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000467678.1", "url": "https://www.ensembl.org/id/ENSP00000467678.1" } ] } }, { "isoform_ac": "K7ES23-1", "url": "", "sequence": { "sequence": "MGSEDHGAQNPSCKIMTFRPTMEEFKDFNKYVAYIESQGAHRAGLAKIIPPKEWKPRQTYDDIDDVVIPAPIQQVVTGQSGLFTQYNIQKKAMTVGEYRRLANSEKYCTPRHQDFDDLER", "length": 120, "header": "tr|K7ES23-1|K7ES23_HUMAN Computationally mapped isoform of Lysine demethylase 4B OS=Homo sapiens OX=9606 GN=KDM4B PE=1 SV=1 CANONICAL=O94953-1" }, "locus": { "chromosome": "19", "start_pos": 5041179, "end_pos": 5032891, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000588337.5", "url": "https://www.ensembl.org/id/ENST00000588337.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000468514.1", "url": "https://www.ensembl.org/id/ENSP00000468514.1" } ] } }, { "isoform_ac": "O94953-1", "url": "", "sequence": { "sequence": "MGSEDHGAQNPSCKIMTFRPTMEEFKDFNKYVAYIESQGAHRAGLAKIIPPKEWKPRQTYDDIDDVVIPAPIQQVVTGQSGLFTQYNIQKKAMTVGEYRRLANSEKYCTPRHQDFDDLERKYWKNLTFVSPIYGADISGSLYDDDVAQWNIGSLRTILDMVERECGTIIEGVNTPYLYFGMWKTTFAWHTEDMDLYSINYLHFGEPKSWYAIPPEHGKRLERLAIGFFPGSSQGCDAFLRHKMTLISPIILKKYGIPFSRITQEAGEFMITFPYGYHAGFNHGFNCAESTNFATLRWIDYGKVATQCTCRKDMVKISMDVFVRILQPERYELWKQGKDLTVLDHTRPTALTSPELSSWSASRASLKAKLLRRSHRKRSQPKKPKPEDPKFPGEGTAGAALLEEAGGSVKEEAGPEVDPEEEEEEPQPLPHGREAEGAEEDGRGKLRPTKAKSERKKKSFGLLPPQLPPPPAHFPSEEALWLPSPLEPPVLGPGPAAMEESPLPAPLNVVPPEVPSEELEAKPRPIIPMLYVVPRPGKAAFNQEHVSCQQAFEHFAQKGPTWKEPVSPMELTGPEDGAASSGAGRMETKARAGEGQAPSTFSKLKMEIKKSRRHPLGRPPTRSPLSVVKQEASSDEEASPFSGEEDVSDPDALRPLLSLQWKNRAASFQAERKFNAAAARTEPYCAICTLFYPYCQALQTEKEAPIASLGKGCPATLPSKSRQKTRPLIPEMCFTSGGENTEPLPANSYIGDDGTSPLIACGKCCLQVHASCYGIRPELVNEGWTCSRCAAHAWTAECCLCNLRGGALQMTTDRRWIHVICAIAVPEARFLNVIERHPVDISAIPEQRWKLKCVYCRKRMKKVSGACIQCSYEHCSTSFHVTCAHAAGVLMEPDDWPYVVSITCLKHKSGGHAVQLLRAVSLGQVVITKNRNGLYYRCRVIGAASQTCYEVNFDDGSYSDNLYPESITSRDCVQLGPPSEGELVELRWTDGNLYKAKFISSVTSHIYQVEFEDGSQLTVKRGDIFTLEEELPKRVRSRLSLSTGAPQEPAFSGEEAKAAKRPRVGTPLATEDSGRSQDYVAFVESLLQVQGRPGAPF", "length": 1096, "header": "sp|O94953-1|KDM4B_HUMAN Isoform 1 of Lysine-specific demethylase 4B OS=Homo sapiens OX=9606 GN=KDM4B PE=1 SV=4 CANONICAL=O94953-1" }, "locus": {} }, { "isoform_ac": "O94953-2", "url": "", "sequence": { "sequence": "MGSEDHGAQNPSCKIMTFRPTMEEFKDFNKYVAYIESQGAHRAGLAKIIPPKEWKPRQTYDDIDDVVIPAPIQQVVTGQSGLFTQYNIQKKAMTVGEYRRLANSEKYCTPRHQDFDDLERKYWKNLTFVSPIYGADISGSLYDDDVAQWNIGSLRTILDMVERECGTIIEGVNTPYLYFGMWKTTFAWHTEDMDLYSINYLHFGEPKSWYAIPPEHGKRLERLAIGFFPGSSQGCDAFLRHKMTLISPIILKKYGIPFSRITQEAGEFMITFPYGYHAGFNHGFNCAESTNFATLRWIDYGKVATQCTCRKDMVKISMDVFVRILQPERYELWKQGKDLTVLDHTRPTALTSPELSSWSASRASLKAKLLRRTPPCVSPHRPSQPGIWCPPGGEAKASAASWLLTTRGHGDTEAGPGLGGDPLHAQSEGQASCVSTSRLRMATQDPCR", "length": 448, "header": "sp|O94953-2|KDM4B_HUMAN Isoform 2 of Lysine-specific demethylase 4B OS=Homo sapiens OX=9606 GN=KDM4B PE=1 SV=4 CANONICAL=O94953-1" }, "locus": { "chromosome": "19", "start_pos": 5111833, "end_pos": 5032891, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000381759.8", "url": "https://www.ensembl.org/id/ENST00000381759.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000371178.3", "url": "https://www.ensembl.org/id/ENSP00000371178.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O94953", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94953" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "phosphorylation": [ { "start_pos": 1065, "end_pos": 1065, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O94953", "url": "https://www.uniprot.org/uniprot/O94953" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O94953", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94953" }, { "database": "PubMed", "id": "28945223", "url": "https://glygen.org/publication/PubMed/28945223" } ], "site_lbl": "Thr1065" }, { "start_pos": 305, "end_pos": 305, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94953", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94953" }, { "database": "PubMed", "id": "28945223", "url": "https://glygen.org/publication/PubMed/28945223" } ], "site_lbl": "Thr305" }, { "start_pos": 352, "end_pos": 352, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94953", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94953" }, { "database": "PubMed", "id": "28945223", "url": "https://glygen.org/publication/PubMed/28945223" } ], "site_lbl": "Ser352" }, { "start_pos": 566, "end_pos": 566, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94953", "url": "https://www.uniprot.org/uniprot/O94953" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O94953", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94953" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "phospho.ELM", "id": "O94953", "url": "http://phospho.elm.eu.org/byAccession/O94953.html" }, { "database": "PubMed", "id": "28945223", "url": "https://glygen.org/publication/PubMed/28945223" } ], "site_lbl": "Ser566" }, { "start_pos": 622, "end_pos": 622, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "O94953", "url": "http://phospho.elm.eu.org/byAccession/O94953.html" }, { "database": "iPTMnet", "id": "O94953", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94953" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ], "site_lbl": "Ser622" }, { "start_pos": 666, "end_pos": 666, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94953", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94953" }, { "database": "PubMed", "id": "31647098", "url": "https://glygen.org/publication/PubMed/31647098" } ], "site_lbl": "Ser666" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Estrogen induction of the cyclin D1 promoter: involvement of a cAMP response-like element.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Sabbah M, Courilleau D, Mester J, Redeuilh G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "10500157", "url": "https://glygen.org/publication/PubMed/10500157" } ] }, { "title": "Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks.", "journal": "Science (New York, N.Y.)", "date": "1999", "authors": "Cortez D, Wang Y, Qin J, Elledge SJ", "evidence": [ { "database": "Reactome", "id": 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expression by estrogen in hormone-responsive human breast cancer cells.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Dubik D, Shiu RP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "3045126", "url": "https://glygen.org/publication/PubMed/3045126" } ] }, { "title": "Histone lysine demethylase KDM4B regulates the alternative splicing of the androgen receptor in response to androgen deprivation.", "journal": "Nucleic acids research", "date": "2019", "authors": "Duan L, Chen Z, Lu J, Liang Y, Wang M, Roggero CM, Zhang QJ, Gao J, Fang Y, Cao J, Lu J, Zhao H, Dang A, Pong RC, Hernandez E, Chang CM, Hoang DT, Ahn JM, Xiao G, Wang RT, Yu KJ, Kapur P, Rizo J, Hsieh JT, Luo J, Liu ZP", "evidence": [ { "database": "iPTMnet", "id": "O94953", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94953" } ], "reference": [ { "type": "PubMed", "id": "31647098", "url": "https://glygen.org/publication/PubMed/31647098" } ] }, { "title": "A transcriptional arrest mechanism involved in controlling constitutive levels of mouse c-myb mRNA.", "journal": "Oncogene", "date": "1988", "authors": "Watson RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "3281094", "url": "https://glygen.org/publication/PubMed/3281094" } ] }, { "title": "Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.", "journal": "American journal of human genetics", "date": "2020", "authors": "Duncan AR, Vitobello A, Collins SC, Vancollie VE, Lelliott CJ, Rodan L, Shi J, Seman AR, Agolini E, Novelli A, Prontera P, Guillen Sacoto MJ, Santiago-Sim T, Trimouille A, Goizet C, Nizon M, Bruel AL, Philippe C, Grant PE, Wojcik MH, Stoler J, Genetti CA, van Dooren MF, Maas SM, Alders M, Faivre L, Sorlin A, Yoon G, Yalcin B, Agrawal PB", "evidence": [ { "database": "UniProtKB", "id": "O94953", "url": "https://www.uniprot.org/uniprot/O94953" } ], "reference": [ { "type": "PubMed", "id": "33232677", "url": "https://glygen.org/publication/PubMed/33232677" } ] }, { "title": "Differential expression of c-myb mRNA in murine B lymphomas by a block to transcription elongation.", "journal": "Science (New York, N.Y.)", "date": "1987", "authors": "Bender TP, Thompson CB, Kuehl WM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "3498214", "url": "https://glygen.org/publication/PubMed/3498214" } ] }, { "title": "Loss of KDM4B impairs osteogenic differentiation of OMSCs and promotes oral bone aging.", "journal": "International journal of oral science", "date": "2022", "authors": "Deng P, Chang I, Wang J, Badreldin AA, Li X, Yu B, Wang CY", "evidence": [ { "database": "RefSeq", "id": "NP_055830", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055830" } ], "reference": [ { "type": "PubMed", "id": "35525910", "url": "https://glygen.org/publication/PubMed/35525910" } ] }, { "title": "Histone H3K9 demethylase JMJD2B/KDM4B promotes osteogenic differentiation of bone marrow-derived mesenchymal stem cells by regulating H3K9me2 on RUNX2.", "journal": "PeerJ", "date": "2022", "authors": "Kang Pan, Wu Zhiming, Huang Yuxi, Luo Zhen, Huo Shaochuan, Chen Qunqun", "evidence": [ { "database": "RefSeq", "id": "NP_055830", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055830" } ], "reference": [ { "type": "PubMed", "id": "36217382", "url": "https://glygen.org/publication/PubMed/36217382" } ] }, { "title": "Stimulation of c-myc oncogene expression associated with estrogen-induced proliferation of human breast cancer cells.", "journal": "Cancer research", "date": "1987", "authors": "Dubik D, Dembinski TC, Shiu RP", "evidence": [ { "database": 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"1995", "authors": "Albanese C, Johnson J, Watanabe G, Eklund N, Vu D, Arnold A, Pestell RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "7559524", "url": "https://glygen.org/publication/PubMed/7559524" } ] }, { "title": "Characterization of the proximal estrogen-responsive element of human cathepsin D gene.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "1994", "authors": "Augereau P, Miralles F, Cavailles V, Gaudelet C, Parker M, Rochefort H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "7935485", "url": "https://glygen.org/publication/PubMed/7935485" } ] }, { "title": "Interaction of proteins with transcriptionally active estrogen receptors.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Cavailles V, Dauvois S, Danielian PS, Parker MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "7937828", "url": "https://glygen.org/publication/PubMed/7937828" } ] }, { "title": "Estrogen receptor-Sp1 complexes mediate estrogen-induced cathepsin D gene expression in MCF-7 human breast cancer cells.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Krishnan V, Wang X, Safe S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "8195246", "url": "https://glygen.org/publication/PubMed/8195246" } ] }, { "title": "Estrogen receptor-associated proteins: possible mediators of hormone-induced transcription.", "journal": "Science (New York, N.Y.)", "date": "1994", "authors": "Halachmi S, Marden E, Martin G, MacKay H, Abbondanza C, Brown M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "8197458", "url": "https://glygen.org/publication/PubMed/8197458" } ] }, { "title": "Cathepsin D gene is controlled by a mixed promoter, and estrogens stimulate only TATA-dependent transcription in breast cancer cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "Cavailles V, Augereau P, Rochefort H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "8419924", "url": "https://glygen.org/publication/PubMed/8419924" } ] }, { "title": "p300 is a component of an estrogen receptor coactivator complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Hanstein B, Eckner R, DiRenzo J, Halachmi S, Liu H, Searcy B, Kurokawa R, Brown M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "8876171", "url": "https://glygen.org/publication/PubMed/8876171" } ] }, { "title": "Identification of a RING protein that can interact in vivo with the BRCA1 gene product.", "journal": "Nature genetics", "date": "1996", "authors": "Wu LC, Wang ZW, Tsan JT, Spillman MA, Phung A, Xu XL, Yang MC, Hwang LY, Bowcock AM, Baer R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "8944023", "url": "https://glygen.org/publication/PubMed/8944023" } ] }, { "title": "Ataxia telangiectasia mutant protein activates c-Abl tyrosine kinase in response to ionizing radiation.", "journal": "Nature", "date": "1997", "authors": "Baskaran R, Wood LD, Whitaker LL, Canman CE, Morgan SE, Xu Y, Barlow C, Baltimore D, Wynshaw-Boris A, Kastan MB, Wang JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "9168116", "url": "https://glygen.org/publication/PubMed/9168116" } ] }, { "title": "Identification of a functional imperfect estrogen-responsive element in the 5'-promoter region of the human cathepsin D gene.", "journal": "Biochemistry", "date": "1997", "authors": "Wang F, Porter W, Xing W, Archer TK, Safe S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "9201922", "url": "https://glygen.org/publication/PubMed/9201922" } ] }, { "title": "Molecular basis of agonism and antagonism in the oestrogen receptor.", "journal": "Nature", "date": "1997", "authors": "Brzozowski AM, Pike AC, Dauter Z, Hubbard RE, Bonn T, Engstrom O, Ohman L, Greene GL, Gustafsson JA, Carlquist M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "9338790", "url": "https://glygen.org/publication/PubMed/9338790" } ] }, { "title": "Nucleosome positioning and transcription-associated chromatin alterations on the human estrogen-responsive pS2 promoter.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Sewack GF, Hansen U", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "9388265", "url": "https://glygen.org/publication/PubMed/9388265" } ] }, { "title": "DNA double-stranded breaks induce histone H2AX phosphorylation on serine 139.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Rogakou EP, Pilch DR, Orr AH, Ivanova VS, Bonner WM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "9488723", "url": "https://glygen.org/publication/PubMed/9488723" } ] }, { "title": "Functional and physical interactions between the estrogen receptor Sp1 and nuclear aryl hydrocarbon receptor complexes.", "journal": "Nucleic acids research", "date": "1998", "authors": "Wang F, Hoivik D, Pollenz R, Safe S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "9611253", "url": "https://glygen.org/publication/PubMed/9611253" } ] }, { "title": "c-Myc or cyclin D1 mimics estrogen effects on cyclin E-Cdk2 activation and cell cycle reentry.", "journal": "Molecular and cellular biology", "date": "1998", "authors": "Prall OW, Rogan EM, Musgrove EA, Watts CK, Sutherland RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "9671459", "url": "https://glygen.org/publication/PubMed/9671459" } ] }, { "title": "Upstream stimulatory factors mediate estrogen receptor activation of the cathepsin D promoter.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "1998", "authors": "Xing W, Archer TK", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "9731700", "url": "https://glygen.org/publication/PubMed/9731700" } ] } ], "pathway": [ { "id": "hsa:23030", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23030", "resource": "KEGG Pathway" }, { "id": "R-HSA-3214842", "name": 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"length": 1086 }, "evidence": [ { "id": "45920972", "url": "http://www.informatics.jax.org/homology/45920972", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "histone H3K36 demethylase activity", "id": "GO:0051864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051864", "evidence": [ { "database": "UniProtKB", "id": "O94953", "url": "https://www.uniprot.org/uniprot/O94953" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O94953", "url": "https://www.uniprot.org/uniprot/O94953" } ], "pmid": "" }, { "name": "histone H3K9me2/H3K9me3 demethylase activity", "id": "GO:0140684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140684", "evidence": [ { "database": "UniProtKB", "id": "O94953", "url": "https://www.uniprot.org/uniprot/O94953" } ], "pmid": "" }, { "name": "histone demethylase activity", "id": "GO:0032452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032452", "evidence": [ { "database": "UniProtKB", "id": "O94953", "url": "https://www.uniprot.org/uniprot/O94953" } ], "pmid": "" }, { "name": "histone H3K9 demethylase activity", "id": "GO:0032454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032454", "evidence": [ { "database": "UniProtKB", "id": "O94953", "url": "https://www.uniprot.org/uniprot/O94953" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O94953", "url": "https://www.uniprot.org/uniprot/O94953" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O94953", "url": "https://www.uniprot.org/uniprot/O94953" } ], "pmid": "" }, { "name": "pericentric heterochromatin", "id": "GO:0005721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005721", "evidence": [ { "database": "UniProtKB", "id": "O94953", "url": "https://www.uniprot.org/uniprot/O94953" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O94953", "url": "https://www.uniprot.org/uniprot/O94953" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "O94953", "url": "https://www.uniprot.org/uniprot/O94953" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "O94953", "url": "https://www.uniprot.org/uniprot/O94953" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "O94953", "url": "https://www.uniprot.org/uniprot/O94953" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "O94953", "url": "https://www.uniprot.org/uniprot/O94953" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 125, "end_pos": 127, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "60200", "name": "", "equation": "2 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + N(6)-methyl-L-lysyl(9)-[histone H3] + 2 succinate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "A1A5Q5-1", "A0A0G2K5I7-1", "A0A0G2JXG2-1", "F1LS62-1", "A0A1W2PPD8-1", "O94953-1", "B2RXH2-1", "Q6B0I6-1", "Q9H3R0-1", "O75164-1", "Q8VCD7-1", "Q91VY5-1", "Q8BW72-1", "Q3U2K5-1", "Q9V6L0-1", "Q9V333-1" ], "evidence": [ { "id": "60200", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/60200" } ] }, { "id": "R-HSA-4724279", "name": "KDM4A, KDM4B, KDM4C, KDM4D demethylate Me2K10-histone H3", "equation": "", "summary": "All characterized lysine demethylases other than KDM1A belong to the jumonjiC domain (JmjC) containing family.The JmjC KDMs are members of the Cupin superfamily of mononuclear Fe (II) dependent oxygenases, which are characterized by the presence of a double-stranded beta-helix core fold. The JmjC KDMs require 2 oxoglutarate (2 OG) and molecular oxygen as co substrates, producing, along with formaldehyde, succinate and carbon dioxide. This hydroxylation based mechanism does not require a protonatable lysine e amine group and consequently JmjC containing demethylases are able to demethylate tri , di and monomethylated lysines.
KDM4A-D (JMJD2A-D/JHDM3A-D) catalyse the demethylation of di- or tri-methylated histone H3 at lysine-10 (H3K9Me2/3) (Cloos et al. 2006, Fodor et al. 2006, Whetstine et al. 2007), with a strong preference for Me3 (Whetstine et al. 2007). MINA, a bifunctional histone lysine demethylase and ribosomal histidine hydroxylase, demethylates trimethylated lysine-10 of histone H3 (Lu et al. 2009). ; ; KDM4A (JHDM3A) can also demethylate lysine-37 of histone H3 (H3K36Me2/3) (Klose et al. 2006).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75164-1", "Q8IUF8-1", "O94953-1", "Q6B0I6-1", "Q9H3R0-1" ], "evidence": [ { "id": "R-HSA-4724279", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4724279" } ] }, { "id": "R-HSA-5661120", "name": "KDM4A, KDM4B, KDM4C, KDM4D, MINA demethylate Me3K10-histone H3", "equation": "", "summary": "All characterized lysine demethylases other than KDM1A belong to the jumonjiC domain (JmjC) containing family.The JmjC KDMs are members of the Cupin superfamily of mononuclear Fe (II) dependent oxygenases, which are characterized by the presence of a double-stranded beta-helix core fold. The JmjC KDMs require 2 oxoglutarate (2 OG) and molecular oxygen as co substrates, producing, along with formaldehyde, succinate and carbon dioxide. This hydroxylation based mechanism does not require a protonatable lysine e amine group and consequently JmjC containing demethylases are able to demethylate tri , di and monomethylated lysines.
KDM4A-D (JMJD2A-D/JHDM3A-D) catalyse the demethylation of di- or tri-methylated histone H3 at lysine-10 (H3K9Me2/3) (Cloos et al. 2006, Fodor et al. 2006, Whetstine et al. 2007), with a strong preference for Me3 (Whetstine et al. 2007). MINA, a bifunctional histone lysine demethylase and ribosomal histidine hydroxylase, demethylates trimethylated lysine-10 of histone H3 (Lu et al. 2009). ; ; KDM4A (JHDM3A) can also demethylate lysine-37 of histone H3 (H3K36Me2/3) (Klose et al. 2006).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75164-1", "Q8IUF8-1", "O94953-1", "Q6B0I6-1", "Q9H3R0-1" ], "evidence": [ { "id": "R-HSA-5661120", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5661120" } ] }, { "id": "R-HSA-5682586", "name": "HERC2 and PIAS4 are recruited to DNA DSBs", "equation": "", "summary": "PIAS4, an E3 SUMO ligase, is recruited to DNA double-strand breaks (DSBs) via an unknown mechanism that requires a DNA-binding SAP domain of PIAS4 (Galanty et al. 2009). HERC2, an E3 ubiquitin ligase and a PIAS4 target, is recruited to DNA DSBs probably through its interaction with ATM (Bekker-Jensen et al. 2010).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13315-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "O75164-1", "Q92878-1", "O94953-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5682586", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682586" } ] }, { "id": "R-HSA-5682588", "name": "RNF8 binds phosphorylated MDC1 at DNA DSBs", "equation": "", "summary": "RNF8 is an E3 ubiquitin ligase that, through its FHA domain, binds MDC1 phosphorylated at T-Q-X-F (Thr-Gln-X-Phe) sites by ATM. The phosphorylation of at least four T-Q-X-F sites of MDC1 (T699, T719, T752, T765) increases RNF8 binding to MDC1 (Kolas et al. 2007). RNF8 functions as a homodimer formed by interactions of the RNF8 coiled-coil domains (Cambell et al. 2012).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13315-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "O75164-1", "Q92878-1", "O94953-1" ], "evidence": [ { "id": "R-HSA-5682588", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682588" } ] }, { "id": "R-HSA-5682598", "name": "ATM phosphorylates HERC2", "equation": "", "summary": "ATM phosphorylates HERC2 on threonine residue T4827. This threonine residue may also be phosphorylated by ATR and DNA-PKcs (PRKDC) (Bekker-Jensen et al. 2010).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13315-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "O75164-1", "Q92878-1", "O94953-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5682598", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682598" } ] }, { "id": "R-HSA-5682607", "name": "PIAS4 SUMOylates HERC2 with SUMO1 at DNA DSBs", "equation": "", "summary": "PIAS4 SUMOylates HERC2 at an unknown lysine residue with SUMO1. ATM activity is needed for PIAS4-mediated HERC2 SUMOylation and it is therefore plausible that the ATM-mediated phosphorylation of HERC2 precedes HERC2 SUMOylation. Once SUMOylated, the ZZ domain of HERC2 interacts with the attached SUMO1 group, probably leading to a conformational change that allows binding of phosphorylated HERC2 to RNF8 (Bekker-Jensen et al. 2010, Danielsen et al. 2012).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13315-1", "P63279-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "O75164-1", "Q92878-1", "O94953-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5682607", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682607" } ] }, { "id": "R-HSA-5682629", "name": "HERC2 facilitates UBE2N:UBE2V2 binding to RNF8", "equation": "", "summary": "HERC2 facilitates binding of the E2 ubiquitin conjugase dimer UBE2N:UBE2V2 (UBC13:MMS2) to RNF8 at DNA double-strand breaks (DSBs) (Kolas et al. 2007, Bekker-Jensen et al. 2010, Campbell et al. 2012).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13315-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "O75164-1", "P61088-1", "Q92878-1", "O94953-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5682629", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682629" } ] }, { "id": "R-HSA-5682858", "name": "RNF8 and RNF168 ubiquitinate H2AFX", "equation": "", "summary": "RNF8 and RNF168 E3 ubiquitin ligases work in concert with the E2 ubiquitin ligase complex UBE2N:UBE2V2 (UBC13:MMS2) to polyubiquitinate histone H2AFX (H2AX) on lysine residues K14 and K16 (commonly labeled in literature as K13 and K15) via ubiquitin lysine K63-directed cross-linking (Mattiroli et al. 2012). The scenario best supported by experimental evidence is that RNF8 initiates ubiquitination of H2AFX, followed by RNF168 binding to and extending ubiquitin chains ligated by RNF8 (Huen et al. 2007, Mailand et al. 2007, Stewart et al. 2009, Doil et al. 2009, Campbell et al. 2012).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13315-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "O75164-1", "Q8IYW5-1", "P61088-1", "Q92878-1", "O94953-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5682858", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682858" } ] }, { "id": "R-HSA-5682863", "name": "RNF168 binds DNA DSBs", "equation": "", "summary": "The recruitment of RNF168, an E3 ubiquitin ligase, to DNA double-strand breaks (DSBs) is facilitated by the interaction of RNF168 with the UBE2N:UBE2V2 (UBC13:MMS2) complex, which serves as the E2 ubiquitin ligase for both RNF8 and RNF168. In addition, because the two RNF168 ubiquitin interaction motifs (UIMs) are needed for the accumulation of RNF168 at DSBs, the initial ubiquitination of H2AFX (H2AX) histones by RNF8 is likely involved in RNF168 recruitment to DSBs. Inactivating mutations in both RNF168 alleles are responsible for the RIDDLE (radiosensitivity, immunodeficiency, dysmorphic features and learning difficulties) syndrome (Stewart et al. 2009, Doil et al. 2009, Bekker-Jensen et al. 2010, Campbell et al. 2012, Mattiroli et al. 2012).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13315-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "O75164-1", "Q8IYW5-1", "P61088-1", "Q92878-1", "O94953-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5682863", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682863" } ] }, { "id": "R-HSA-5682992", "name": "KDM4A,B bind H4K20Me2", "equation": "", "summary": "Histone demethylases KDM4A (JMJD2A) and KDM4B (JMJD2B) bind H4K20Me2 (Me2-K21-HIST1H4A) with a higher affinity than TP53BP1 (53BP1), thereby blocking TP53BP1 recruitment to DNA double-strand breaks (DSBs). Demethylation of HIST1H4A (histone H4) by KDM4A or KDM4B is not involved in the inhibition of TP53BP1 binding (Mallette et al. 2012).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13315-1", "O96028-1", "Q92993-1", "P49959-1", "O75164-1", "Q92878-1", "O94953-1" ], "evidence": [ { "id": "R-HSA-5682992", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682992" } ] }, { "id": "R-HSA-5683077", "name": "RNF8 and RNF168 ubiquitinate KDM4A,B", "equation": "", "summary": "RNF8 and RNF168 polyubiquitinate KDM4A and KDM4B via ubiquitin lysine K48 cross-linking, leading to dissociation of ubiquitinated KDM4A and KDM4B from H4K20Me2 (Me2-K21-HIST1H4A) and subsequent proteasome-mediated degradation of KDM4A and KDM4B (Mallette et al. 2012).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13315-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "O75164-1", "Q8IYW5-1", "P61088-1", "Q92878-1", "O94953-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5683077", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683077" } ] }, { "id": "R-HSA-9011949", "name": "KDM4B demethylates H3K9me3 on estrogen-responsive target enhancers", "equation": "", "summary": "KDM4B (also known as JMJD2B) is an H3 K9 demethylase that is recruited to estrogen-responsive enhancers through interaction with ESR1 (Kawazu et al, 2011; Gaughan et al, 2013). KDM4B promotes target gene activation in the presence of estrogen by removing the repressive H3K9 methylation mark, and KDM4B has been shown to interact with the SWI/SNF-B complex component SMARCA4 and to promote recruitment of RNA polymerase II (Kawazu et al, 2011; Gaughan et al, 2013).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O94953-1" ], "evidence": [ { "id": "R-HSA-9011949", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9011949" } ] }, { "id": "R-HSA-9011952", "name": "ESR1:ESTG and KDM4B bind H3K9me3 target gene enhancers", "equation": "", "summary": "Transcriptional induction of a number of estrogen-responsive genes, including MYC, MYB, GREB1 and KDM4B itself, is dependent on KDM4B-dependent H3K9 promoter/enhancer demethylation. KDM4B interacts with ESR1 and is recruited to estrogen-responsive target gene promoters or enhancers in an estrogen-dependent manner (Kawazu et al, 2011; Gaughan et al, 2013). Depletion of KDM4B in T47D and MCF7 breast cancer cell lines abrogates the proliferative response to estrogen, consistent with its role in driving expression of estrogen-dependent cell cycle regulators like MYC and CCND1 (Kawazu et al, 2011; Yang et al, 2010). KDM4B additionally interacts with the transcriptional activator SMARCA4, and depletion of KDM4B compromises the recruitment of RNA polymerase II to the MYB promoter in T47D cells (Kawazu et al, 2011). KDM4B is highly expressed in ER alpha-positive breast cancer and prostate cancer (Gaughan et al, 2013; Coffey et al, 2013). KDM4B may also promote estrogen-responsive signaling by interacting with GATA3 and binding to the enhancers of ESR1and FOXA1 genes (Gaughan et al, 2013).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O94953-1" ], "evidence": [ { "id": "R-HSA-9011952", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9011952" } ] }, { "id": "R-HSA-9011966", "name": "Estrogen-responsive KDM4B gene expression", "equation": "", "summary": "KDM4B regulates its own expression by interacting with the estrogen receptor to promote estrogen-dependent demethylation of its promoter. KDM4B also interacts with the transcriptional activator SMARCA4 to promote recruitment of RNA polymerase II (Kawazu et al, 2011; Gaughan et al, 2013).; ; ;", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-9011732" ], "output_participant_list": [ "R-HSA-3214396" ], "enzyme_list": [ "O94953-1" ], "evidence": [ { "id": "R-HSA-9011966", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9011966" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-3214396", "participant_name": "KDM4B [nucleoplasm]", "crossref": [ { "id": "O94953", "database": "PRO", "url": "" }, { "id": "4LXL", "database": "PDB", "url": "" }, { "id": "KDM4B_HUMAN", "database": "ZINC - Substances", "url": "" }, { "id": "ENSG00000127663", "database": "Ensembl", "url": "" }, { "id": "ENSP00000371178", "database": "Ensembl", "url": "" }, { "id": "2676", "database": "Guide to Pharmacology - Targets", "url": "" }, { "id": "ENST00000381759", "database": "Ensembl", "url": "" }, { "id": "KDM4B_HUMAN", "database": "ZINC - Predictions - Purchasable", "url": "" }, { "id": "O94953", "database": "ZINC target", "url": "" }, { "id": "O94953", "database": "UniProt", "url": "" }, { "id": "O94953", "database": "GeneCards", "url": "" }, { "id": "NP_055830.1", "database": "RefSeq", "url": "" }, { "id": "O94953", "database": "Pharos - Targets", "url": "" }, { "id": "7JM5", "database": "PDB", "url": "" }, { "id": "1.14.11.66", "database": "IntEnz", "url": "" }, { "id": "ENSG00000127663-KDM4B", "database": "HPA", "url": "" }, { "id": "4UC4", "database": "PDB", "url": "" }, { "id": "ENSG00000127663", "database": "OpenTargets", "url": "" } ] }, { "participant_id": "R-HSA-9011732", "participant_name": "KDM4B gene [nucleoplasm]", "crossref": [ { "id": "ENSG00000127663", "database": "ENSEMBL", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "A0A0G2JXG2", "gene_name": "Kdm4b", "activity": [ { "ec_number": "1.14.11.66", "activity": "2 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + N(6)-methyl-L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "A0A0G2JXG2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A0G2JXG2" } ] }, { "ec_number": "1.14.11.66", "activity": "", "evidence": [ { "id": "A0A0G2JXG2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A0G2JXG2" } ] } ] }, { "uniprot_ac": "A0A0G2K5I7", "gene_name": "Kdm4a", "activity": [ { "ec_number": "1.14.11.66", "activity": "2 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + N(6)-methyl-L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "A0A0G2K5I7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A0G2K5I7" } ] }, { "ec_number": "1.14.11.66", "activity": "", "evidence": [ { "id": "A0A0G2K5I7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A0G2K5I7" } ] } ] }, { "uniprot_ac": "A0A1W2PPD8", "gene_name": "KDM4F", "activity": [ { "ec_number": "1.14.11.66", "activity": "2 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + N(6)-methyl-L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "A0A1W2PPD8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A1W2PPD8" } ] }, { "ec_number": "1.14.11.66", "activity": "", "evidence": [ { "id": "A0A1W2PPD8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A1W2PPD8" } ] } ] }, { "uniprot_ac": "A1A5Q5", "gene_name": "Kdm4d", "activity": [ { "ec_number": "1.14.11.66", "activity": "2 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + N(6)-methyl-L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "A1A5Q5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A1A5Q5" } ] }, { "ec_number": "1.14.11.66", "activity": "", "evidence": [ { "id": "A1A5Q5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A1A5Q5" } ] } ] }, { "uniprot_ac": "B2RXH2", "gene_name": "KDM4E", "activity": [ { "ec_number": "1.14.11.66", "activity": "2 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + N(6)-methyl-L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "B2RXH2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RXH2" } ] }, { "ec_number": "1.14.11.66", "activity": "", "evidence": [ { "id": "B2RXH2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RXH2" } ] } ] }, { "uniprot_ac": "F1LS62", "gene_name": "Kdm4c", "activity": [ { "ec_number": "1.14.11.66", "activity": "2 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + N(6)-methyl-L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "F1LS62", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/F1LS62" } ] }, { "ec_number": "1.14.11.66", "activity": "", "evidence": [ { "id": "F1LS62", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/F1LS62" } ] } ] }, { "uniprot_ac": "O75164", "gene_name": "KDM4A", "activity": [ { "ec_number": "1.14.11.69", "activity": "2 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(36)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + N(6)-methyl-L-lysyl(36)-[histone H3] + 2 succinate.", "evidence": [ { "id": "O75164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75164" } ] }, { "ec_number": "1.14.11.66", "activity": "2 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + N(6)-methyl-L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "O75164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75164" } ] }, { "ec_number": "1.14.11.66", "activity": "", "evidence": [ { "id": "O75164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75164" } ] }, { "ec_number": "1.14.11.69", "activity": "", "evidence": [ { "id": "O75164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75164" } ] } ] }, { "uniprot_ac": "O76064", "gene_name": "RNF8", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "O76064", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O76064" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "O76064", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O76064" } ] } ] }, { "uniprot_ac": "O94953", "gene_name": "KDM4B", "activity": [ { "ec_number": "1.14.11.66", "activity": "2 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + N(6)-methyl-L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "O94953", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94953" } ] }, { "ec_number": "1.14.11.66", "activity": "", "evidence": [ { "id": "O94953", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94953" } ] } ] }, { "uniprot_ac": "O95714", "gene_name": "HERC2", "activity": [ { "ec_number": "2.3.2.26", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "O95714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95714" } ] }, { "ec_number": "2.3.2.26", "activity": "", "evidence": [ { "id": "O95714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95714" } ] } ] }, { "uniprot_ac": "O96028", "gene_name": "NSD2", "activity": [ { "ec_number": "2.1.1.357", "activity": "L-lysyl(36)-[histone H3] + 2 S-adenosyl-L-methionine = 2 H(+) + N(6),N(6)-dimethyl-L-lysyl(36)-[histone H3] + 2 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "O96028", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96028" } ] }, { "ec_number": "2.1.1.357", "activity": "", "evidence": [ { "id": "O96028", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96028" } ] } ] }, { "uniprot_ac": "P49959", "gene_name": "MRE11", "activity": [ { "ec_number": "3.1.-.-", "activity": "", "evidence": [ { "id": "P49959", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49959" } ] } ] }, { "uniprot_ac": "P61088", "gene_name": "UBE2N", "activity": [ { "ec_number": "2.3.2.23", "activity": "S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [E2 ubiquitin-conjugating enzyme]-L-cysteine = [E1 ubiquitin-activating enzyme]-L-cysteine + S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine.", "evidence": [ { "id": "P61088", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61088" } ] }, { "ec_number": "2.3.2.23", "activity": "", "evidence": [ { "id": "P61088", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61088" } ] } ] }, { "uniprot_ac": "P63279", "gene_name": "UBE2I", "activity": [ { "ec_number": "2.3.2.-", "activity": "", "evidence": [ { "id": "P63279", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P63279" } ] } ] }, { "uniprot_ac": "Q13315", "gene_name": "ATM", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q13315", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13315" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "Q13315", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13315" } ] } ] }, { "uniprot_ac": "Q3U2K5", "gene_name": "Kdm4d", "activity": [ { "ec_number": "1.14.11.66", "activity": "2 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + N(6)-methyl-L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q3U2K5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3U2K5" } ] }, { "ec_number": "1.14.11.66", "activity": "", "evidence": [ { "id": "Q3U2K5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3U2K5" } ] } ] }, { "uniprot_ac": "Q6B0I6", "gene_name": "KDM4D", "activity": [ { "ec_number": "1.14.11.66", "activity": "2 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + N(6)-methyl-L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q6B0I6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6B0I6" } ] }, { "ec_number": "1.14.11.66", "activity": "", "evidence": [ { "id": "Q6B0I6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6B0I6" } ] } ] }, { "uniprot_ac": "Q8BW72", "gene_name": "Kdm4a", "activity": [ { "ec_number": "1.14.11.66", "activity": "2 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + N(6)-methyl-L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q8BW72", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BW72" } ] }, { "ec_number": "1.14.11.66", "activity": "", "evidence": [ { "id": "Q8BW72", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BW72" } ] }, { "ec_number": "1.14.11.69", "activity": "2 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(36)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + N(6)-methyl-L-lysyl(36)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q8BW72", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BW72" } ] }, { "ec_number": "1.14.11.69", "activity": "", "evidence": [ { "id": "Q8BW72", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BW72" } ] } ] }, { "uniprot_ac": "Q8IUF8", "gene_name": "RIOX2", "activity": [ { "ec_number": "1.14.11.79", "activity": "2-oxoglutarate + L-histidyl-[protein] + O2 = (3S)-3-hydroxy-L-histidyl-[protein] + CO2 + succinate.", "evidence": [ { "id": "Q8IUF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IUF8" } ] }, { "ec_number": "1.14.11.-", "activity": "", "evidence": [ { "id": "Q8IUF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IUF8" } ] } ] }, { "uniprot_ac": "Q8IYW5", "gene_name": "RNF168", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q8IYW5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IYW5" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q8IYW5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IYW5" } ] } ] }, { "uniprot_ac": "Q8N2W9", "gene_name": "PIAS4", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q8N2W9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N2W9" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q8N2W9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N2W9" } ] } ] }, { "uniprot_ac": "Q8VCD7", "gene_name": "Kdm4c", "activity": [ { "ec_number": "1.14.11.66", "activity": "2 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + N(6)-methyl-L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q8VCD7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VCD7" } ] }, { "ec_number": "1.14.11.66", "activity": "", "evidence": [ { "id": "Q8VCD7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VCD7" } ] } ] }, { "uniprot_ac": "Q91VY5", "gene_name": "Kdm4b", "activity": [ { "ec_number": "1.14.11.66", "activity": "2 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + N(6)-methyl-L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q91VY5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91VY5" } ] }, { "ec_number": "1.14.11.66", "activity": "", "evidence": [ { "id": "Q91VY5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91VY5" } ] } ] }, { "uniprot_ac": "Q92878", "gene_name": "RAD50", "activity": [ { "ec_number": "3.6.-.-", "activity": "", "evidence": [ { "id": "Q92878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92878" } ] } ] }, { "uniprot_ac": "Q92993", "gene_name": "KAT5", "activity": [ { "ec_number": "2.3.1.48", "activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].", "evidence": [ { "id": "Q92993", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92993" } ] }, { "ec_number": "2.3.1.48", "activity": "", "evidence": [ { "id": "Q92993", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92993" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q92993", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92993" } ] } ] }, { "uniprot_ac": "Q9H3R0", "gene_name": "KDM4C", "activity": [ { "ec_number": "1.14.11.66", "activity": "2 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + N(6)-methyl-L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q9H3R0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H3R0" } ] }, { "ec_number": "1.14.11.66", "activity": "", "evidence": [ { "id": "Q9H3R0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H3R0" } ] } ] }, { "uniprot_ac": "Q9V333", "gene_name": "Kdm4A", "activity": [ { "ec_number": "1.14.11.27", "activity": "2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(36)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(36)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q9V333", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V333" } ] }, { "ec_number": "1.14.11.69", "activity": "2 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(36)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + N(6)-methyl-L-lysyl(36)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q9V333", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V333" } ] }, { "ec_number": "1.14.11.66", "activity": "2 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + N(6)-methyl-L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q9V333", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V333" } ] }, { "ec_number": "1.14.11.66", "activity": "", "evidence": [ { "id": "Q9V333", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V333" } ] }, { "ec_number": "1.14.11.69", "activity": "", "evidence": [ { "id": "Q9V333", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V333" } ] } ] }, { "uniprot_ac": "Q9V6L0", "gene_name": "Kdm4B", "activity": [ { "ec_number": "1.14.11.27", "activity": "2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(36)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(36)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q9V6L0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V6L0" } ] }, { "ec_number": "1.14.11.66", "activity": "2 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + N(6)-methyl-L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q9V6L0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V6L0" } ] }, { "ec_number": "1.14.11.66", "activity": "", "evidence": [ { "id": "Q9V6L0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V6L0" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 305, 352, 566, 622, 666, 1065 ], "sequon_annotation_sites": [ { "start_pos": 125, "end_pos": 127 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 233 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }