{ "uniprot_canonical_ac": "Q9UJW3-1", "uniprot_ac": "Q9UJW3", "uniprot_id": "DNM3L_HUMAN", "mass": { "chemical_mass": 43583.0, "monoisotopic_mass": 43583.0 }, "refseq": { "ac": "NP_037501", "name": "DNA (cytosine-5)-methyltransferase 3-like isoform 1", "summary": "CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a nuclear protein with similarity to DNA methyltransferases, but is not thought to function as a DNA methyltransferase as it does not contain the amino acid residues necessary for methyltransferase activity. However, it does stimulate de novo methylation by DNA cytosine methyltransferase 3 alpha and is thought to be required for the establishment of maternal genomic imprints. This protein also mediates transcriptional repression through interaction with histone deacetylase 1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037501" }, "gene_names": [ { "name": "DNMT3L", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9UJW3", "id": "Q9UJW3" }, { "name": "DNMT3L", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037501", "id": "NP_037501" } ], "protein_names": [ { "name": "DNA (cytosine-5)-methyltransferase 3-like", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9UJW3" }, { "name": "DNA (cytosine-5)-methyltransferase 3-like isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037501", "id": "NP_037501" }, { "name": "human cytosine-5-methyltransferase 3-like protein; DNA (cytosine-5-)-methyltransferase 3-like", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037501", "id": "NP_037501" } ], "function": [ { "annotation": "Catalytically inactive regulatory factor of DNA methyltransferases that can either promote or inhibit DNA methylation depending on the context (By similarity). Essential for the function of DNMT3A and DNMT3B: activates DNMT3A and DNMT3B by binding to their catalytic domain (PubMed:17687327). Acts by accelerating the binding of DNA and S-adenosyl-L-methionine (AdoMet) to the methyltransferases and dissociates from the complex after DNA binding to the methyltransferases (PubMed:17687327). Recognizes unmethylated histone H3 lysine 4 (H3K4me0) and induces de novo DNA methylation by recruitment or activation of DNMT3 (PubMed:17687327). Plays a key role in embryonic stem cells and germ cells (By similarity). In germ cells, required for the methylation of imprinted loci together with DNMT3A (By similarity). In male germ cells, specifically required to methylate retrotransposons, preventing their mobilization (By similarity). Plays a key role in embryonic stem cells (ESCs) by acting both as an positive and negative regulator of DNA methylation (By similarity). While it promotes DNA methylation of housekeeping genes together with DNMT3A and DNMT3B, it also acts as an inhibitor of DNA methylation at the promoter of bivalent genes (By similarity). Interacts with the EZH2 component of the PRC2/EED-EZH2 complex, preventing interaction of DNMT3A and DNMT3B with the PRC2/EED-EZH2 complex, leading to maintain low methylation levels at the promoters of bivalent genes (By similarity). Promotes differentiation of ESCs into primordial germ cells by inhibiting DNA methylation at the promoter of RHOX5, thereby activating its expression (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "Q9UJW3", "url": "https://www.uniprot.org/uniprot/Q9UJW3#function" }, { "database": "UniProtKB", "id": "Q9CWR8", "url": "https://www.uniprot.org/uniprot/Q9CWR8#function" }, { "database": "PubMed", "id": "17687327", "url": "https://glygen.org/publication/PubMed/17687327" } ] }, { "annotation": "CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a nuclear protein with similarity to DNA methyltransferases, but is not thought to function as a DNA methyltransferase as it does not contain the amino acid residues necessary for methyltransferase activity. However, it does stimulate de novo methylation by DNA cytosine methyltransferase 3 alpha and is thought to be required for the establishment of maternal genomic imprints. This protein also mediates transcriptional repression through interaction with histone deacetylase 1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_037501", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037501" } ] }, { "annotation": "Decoding the Genetic Alterations in Genes of DNMT Family (DNA Methyl-Transferase) and their Association with Head and Neck Squamous Cell Carcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_037501", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037501" }, { "database": "PubMed", "id": "33369458", "url": "https://glygen.org/publication/PubMed/33369458" } ] }, { "annotation": "Stable DNMT3L overexpression in SH-SY5Y neurons recreates a facet of the genome-wide Down syndrome DNA methylation signature. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_037501", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037501" }, { "database": "PubMed", "id": "33750431", "url": "https://glygen.org/publication/PubMed/33750431" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 261, "end_pos": 261, "sequence_org": "F", "sequence_mut": "A", "comment": "Loss of binding to DNMT3A.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJW3", "url": "https://www.uniprot.org/uniprot/Q9UJW3" }, { "database": "PubMed", "id": "17713477", "url": "https://glygen.org/publication/PubMed/17713477" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "70.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000142182", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142182" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "43.03", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000142182", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142182" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000142182", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142182" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "23.57", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000142182", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142182" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "26.03", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000142182", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142182" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "26.33", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000142182", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142182" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "57.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000142182", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142182" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "24.38", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000142182", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142182" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "21.27", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000142182", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142182" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q9UJW3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UJW3" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": 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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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"MAAIPALDPEAEPSMDVILVGSSELSSSVSPGTGRDLIAYEVKANQRNIEDICICCGSLQVHTQHPLFEGGICAPCKDKFLDALFLYDDDGYQSYCSICCSGETLLICGNPDCTRCYCFECVDSLVGPGTSGKVHAMSNWVCYLCLPSSRSGLLQRRRKWRSQLKAFYDRESENPLEMFETVPVWRRQPVRVLSLFEDIKKELTSLGFLESGSDPGQLKHVVDVTDTVRKDVEEWGPFDLVYGATPPLGHTCDRPPSWYLFQFHRLLQYARPKPGSPRPFFWMFVDNLVLNKEDLDVASRFLEMEPVTIPDVHGGSLQNAVRVWSNIPAIRSRHWALVSEEELSLLAQNKQSSKLAAKWPTKLVKNCFLPLREYFKYFSTELTSSL", "length": 386, "header": "sp|Q9UJW3-1|DNM3L_HUMAN Isoform 1 of DNA (cytosine-5)-methyltransferase 3-like OS=Homo sapiens OX=9606 GN=DNMT3L PE=1 SV=3 CANONICAL=Q9UJW3-1" }, "isoforms": [ { "isoform_ac": "C9J0T5-1", "url": "", "sequence": { "sequence": "MAAIPALDPEAEPSMDVILVGSSELSSSVSPGTGRDICICCGSLQVHTQHPLFEGGICAPCKDKFLDALFLYDDDGYQSYCSICCSGETLLICGNPDCTRCYCFECVDSLVGPGTSGKVHAMSNWVCYLCLPSSRSGLLQRRRKWRSQLKAFYDRESENPLEMFETVPVWRRQPVRVLSLFEDIKKELTSLGFLESGSDPGQLKHVVDVTDTVRKDVEEWGPFDLVYGATPPLGHTCDRPPSWYLFQFHRLLQYARPKPGSPRPFFWMFVDNLVLNKEDLDVASRFLE", "length": 288, "header": "tr|C9J0T5-1|C9J0T5_HUMAN Computationally mapped isoform of DNA methyltransferase 3 like OS=Homo sapiens OX=9606 GN=DNMT3L PE=4 SV=1 CANONICAL=Q9UJW3-1" }, "locus": { "chromosome": "21", "start_pos": 44261259, "end_pos": 44250810, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000431166.1", "url": "https://www.ensembl.org/id/ENST00000431166.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000400242.1", "url": "https://www.ensembl.org/id/ENSP00000400242.1" } ] } }, { "isoform_ac": "Q9UJW3-1", "url": "", "sequence": { "sequence": "MAAIPALDPEAEPSMDVILVGSSELSSSVSPGTGRDLIAYEVKANQRNIEDICICCGSLQVHTQHPLFEGGICAPCKDKFLDALFLYDDDGYQSYCSICCSGETLLICGNPDCTRCYCFECVDSLVGPGTSGKVHAMSNWVCYLCLPSSRSGLLQRRRKWRSQLKAFYDRESENPLEMFETVPVWRRQPVRVLSLFEDIKKELTSLGFLESGSDPGQLKHVVDVTDTVRKDVEEWGPFDLVYGATPPLGHTCDRPPSWYLFQFHRLLQYARPKPGSPRPFFWMFVDNLVLNKEDLDVASRFLEMEPVTIPDVHGGSLQNAVRVWSNIPAIRSRHWALVSEEELSLLAQNKQSSKLAAKWPTKLVKNCFLPLREYFKYFSTELTSSL", "length": 386, "header": "sp|Q9UJW3-1|DNM3L_HUMAN Isoform 1 of DNA (cytosine-5)-methyltransferase 3-like OS=Homo sapiens OX=9606 GN=DNMT3L PE=1 SV=3 CANONICAL=Q9UJW3-1" }, "locus": { "chromosome": "21", "start_pos": 44261259, "end_pos": 44246400, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000628202.3", "url": "https://www.ensembl.org/id/ENST00000628202.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000486001.1", "url": "https://www.ensembl.org/id/ENSP00000486001.1" } ] } }, { "isoform_ac": "Q9UJW3-2", "url": "", "sequence": { "sequence": "MAAIPALDPEAEPSMDVILVGSSELSSSVSPGTGRDLIAYEVKANQRNIEDICICCGSLQVHTQHPLFEGGICAPCKDKFLDALFLYDDDGYQSYCSICCSGETLLICGNPDCTRCYCFECVDSLVGPGTSGKVHAMSNWVCYLCLPSSRSGLLQRRRKWRSQLKAFYDRESENPLEMFETVPVWRRQPVRVLSLFEDIKKELTSLGFLESGSDPGQLKHVVDVTDTVRKDVEEWGPFDLVYGATPPLGHTCDRPPSWYLFQFHRLLQYARPKPGSPRPFFWMFVDNLVLNKEDLDVASRFLEMEPVTIPDVHGGSLQNAVRVWSNIPAIRSSRHWALVSEEELSLLAQNKQSSKLAAKWPTKLVKNCFLPLREYFKYFSTELTSSL", "length": 387, "header": "sp|Q9UJW3-2|DNM3L_HUMAN Isoform 2 of DNA (cytosine-5)-methyltransferase 3-like OS=Homo sapiens OX=9606 GN=DNMT3L PE=1 SV=3 CANONICAL=Q9UJW3-1" }, "locus": { "chromosome": "21", "start_pos": 44261259, "end_pos": 44246400, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000270172.7", "url": "https://www.ensembl.org/id/ENST00000270172.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000270172.3", "url": "https://www.ensembl.org/id/ENSP00000270172.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q9UJW3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UJW3" }, { "id": "32522876", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32522876" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Recombinant human DNA (cytosine-5) methyltransferase. I. Expression, purification, and comparison of de novo and maintenance methylation.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Pradhan S, Bacolla A, Wells RD, Roberts RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "10551868", "url": "https://glygen.org/publication/PubMed/10551868" } ] }, { "title": "Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family.", "journal": "Genomics", "date": "2000", "authors": "Antonarakis S.E., Kawasaki K., Kudoh J., Minoshima S., Shibuya K., Shimizu N., Shintani A., Scott H.S., Vihinen M., Heino M., Krohn K., Ollila J., Peterson P., Aapola U.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJW3", "url": "https://www.uniprot.org/uniprot/Q9UJW3" } ], "reference": [ { "type": "PubMed", "id": "10857753", "url": "https://glygen.org/publication/PubMed/10857753" } ] }, { "title": "The DNA methyltransferase-like protein DNMT3L stimulates de novo methylation by Dnmt3a.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Chedin F, Lieber MR, Hsieh CL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "12481029", "url": "https://glygen.org/publication/PubMed/12481029" } ] }, { "title": "DNMT3L stimulates the DNA methylation activity of Dnmt3a and Dnmt3b through a direct interaction.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Suetake I, Shinozaki F, Miyagawa J, Takeshima H, Tajima S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "15105426", "url": "https://glygen.org/publication/PubMed/15105426" } ] }, { "title": "Physical and functional interactions between the human DNMT3L protein and members of the de novo methyltransferase family.", "journal": "Journal of cellular biochemistry", "date": "2005", "authors": "Chen ZX, Mann JR, Hsieh CL, Riggs AD, Chedin F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "15861382", "url": "https://glygen.org/publication/PubMed/15861382" } ] }, { "title": "Reconstitution and mechanism of the stimulation of de novo methylation by human DNMT3L.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Kareta MS, Botello ZM, Ennis JJ, Chou C, Chedin F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "16829525", "url": "https://glygen.org/publication/PubMed/16829525" } ] }, { "title": "UHRF1 plays a role in maintaining DNA methylation in mammalian cells.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Bostick M, Kim JK, Esteve PO, Clark A, Pradhan S, Jacobsen SE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "17673620", "url": "https://glygen.org/publication/PubMed/17673620" } ] }, { "title": "DNMT3L connects unmethylated lysine 4 of histone H3 to de novo methylation of DNA.", "journal": "Nature", "date": "2007", "authors": "Ooi SK, Qiu C, Bernstein E, Li K, Jia D, Yang Z, Erdjument-Bromage H, Tempst P, Lin SP, Allis CD, Cheng X, Bestor TH", "evidence": [ { "database": "UniProtKB", "id": "Q9UJW3", "url": "https://www.uniprot.org/uniprot/Q9UJW3" }, { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "17687327", "url": "https://glygen.org/publication/PubMed/17687327" } ] }, { "title": "Structure of Dnmt3a bound to Dnmt3L suggests a model for de novo DNA methylation.", "journal": "Nature", "date": "2007", "authors": "Jia D, Jurkowska RZ, Zhang X, Jeltsch A, Cheng X", "evidence": [ { "database": "UniProtKB", "id": "Q9UJW3", "url": "https://www.uniprot.org/uniprot/Q9UJW3" } ], "reference": [ { "type": "PubMed", "id": "17713477", "url": "https://glygen.org/publication/PubMed/17713477" } ] }, { "title": "Cytosine methylation: remaining faithful.", "journal": "Current biology : CB", "date": "2008", "authors": "Ooi SK, Bestor TH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "18302924", "url": "https://glygen.org/publication/PubMed/18302924" } ] }, { "title": "Structural basis for recognition of hemi-methylated DNA by the SRA domain of human UHRF1.", "journal": "Nature", "date": "2008", "authors": "Avvakumov GV, Walker JR, Xue S, Li Y, Duan S, Bronner C, Arrowsmith CH, Dhe-Paganon S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "18772889", "url": "https://glygen.org/publication/PubMed/18772889" } ] }, { "title": "Structure and hemimethylated CpG binding of the SRA domain from human UHRF1.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Qian C, Li S, Jakoncic J, Zeng L, Walsh MJ, Zhou MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "18945682", "url": "https://glygen.org/publication/PubMed/18945682" } ] }, { "title": "Structural basis for recognition of H3K4 methylation status by the DNA methyltransferase 3A ATRX-DNMT3-DNMT3L domain.", "journal": "EMBO reports", "date": "2009", "authors": "Otani J, Nankumo T, Arita K, Inamoto S, Ariyoshi M, Shirakawa M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "19834512", "url": "https://glygen.org/publication/PubMed/19834512" } ] }, { "title": "The inherent processivity of the human de novo methyltransferase 3A (DNMT3A) is enhanced by DNMT3L.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Holz-Schietinger C, Reich NO", "evidence": [ { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "20630873", "url": "https://glygen.org/publication/PubMed/20630873" } ] }, { "title": "DNMT3L modulates significant and distinct flanking sequence preference for DNA methylation by DNMT3A and DNMT3B in vivo.", "journal": "PLoS genetics", "date": "2010", "authors": "Wienholz BL, Kareta MS, Moarefi AH, Gordon CA, Ginno PA, Chedin F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "20838592", "url": "https://glygen.org/publication/PubMed/20838592" } ] }, { "title": "Identification of preferential target sites for human DNA methyltransferases.", "journal": "Nucleic acids research", "date": "2011", "authors": "Choi SH, Heo K, Byun HM, An W, Lu W, Yang AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "20841325", "url": "https://glygen.org/publication/PubMed/20841325" } ] }, { "title": "Structure of DNMT1-DNA complex reveals a role for autoinhibition in maintenance DNA methylation.", "journal": "Science (New York, N.Y.)", "date": "2011", "authors": "Song J, Rechkoblit O, Bestor TH, Patel DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "21163962", "url": "https://glygen.org/publication/PubMed/21163962" } ] }, { "title": "Modulation of Dnmt3b function in vitro by interactions with Dnmt3L, Dnmt3a and Dnmt3b splice variants.", "journal": "Nucleic acids research", "date": "2011", "authors": "Van Emburgh BO, Robertson KD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "21378119", "url": "https://glygen.org/publication/PubMed/21378119" } ] }, { "title": "Recognition of multivalent histone states associated with heterochromatin by UHRF1 protein.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Nady N, Lemak A, Walker JR, Avvakumov GV, Kareta MS, Achour M, Xue S, Duan S, Allali-Hassani A, Zuo X, Wang YX, Bronner C, Chedin F, Arrowsmith CH, Dhe-Paganon S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "21489993", "url": "https://glygen.org/publication/PubMed/21489993" } ] }, { "title": "Dynamic CpG island methylation landscape in oocytes and preimplantation embryos.", "journal": "Nature genetics", "date": "2011", "authors": "Smallwood SA, Tomizawa S, Krueger F, Ruf N, Carli N, Segonds-Pichon A, Sato S, Hata K, Andrews SR, Kelsey G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "21706000", "url": "https://glygen.org/publication/PubMed/21706000" } ] }, { "title": "PHD finger recognition of unmodified histone H3R2 links UHRF1 to regulation of euchromatic gene expression.", "journal": "Molecular cell", "date": "2011", "authors": "Rajakumara E, Wang Z, Ma H, Hu L, Chen H, Lin Y, Guo R, Wu F, Li H, Lan F, Shi YG, Xu Y, Patel DJ, Shi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "21777816", "url": "https://glygen.org/publication/PubMed/21777816" } ] }, { "title": "Structural basis for site-specific reading of unmodified R2 of histone H3 tail by UHRF1 PHD finger.", "journal": "Cell research", "date": "2011", "authors": "Wang C, Shen J, Yang Z, Chen P, Zhao B, Hu W, Lan W, Tong X, Wu H, Li G, Cao C", "evidence": [ { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "21808299", "url": "https://glygen.org/publication/PubMed/21808299" } ] }, { "title": "Crystal structure of PHD domain of UHRF1 and insights into recognition of unmodified histone H3 arginine residue 2.", "journal": "Cell research", "date": "2011", "authors": "Hu L, Li Z, Wang P, Lin Y, Xu Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "21808300", "url": "https://glygen.org/publication/PubMed/21808300" } ] }, { "title": "Oligomerization of DNMT3A controls the mechanism of de novo DNA methylation.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Holz-Schietinger C, Matje DM, Harrison MF, Reich NO", "evidence": [ { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "21979949", "url": "https://glygen.org/publication/PubMed/21979949" } ] }, { "title": "S phase-dependent interaction with DNMT1 dictates the role of UHRF1 but not UHRF2 in DNA methylation maintenance.", "journal": "Cell research", "date": "2011", "authors": "Zhang J, Gao Q, Li P, Liu X, Jia Y, Wu W, Li J, Dong S, Koseki H, Wong J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "22064703", "url": "https://glygen.org/publication/PubMed/22064703" } ] }, { "title": "Kinetics of DNA methylation inheritance by the Dnmt1-including complexes during the cell cycle.", "journal": "Cell division", "date": "2012", "authors": "Hervouet E, Nadaradjane A, Gueguen M, Vallette FM, Cartron PF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "22348533", "url": "https://glygen.org/publication/PubMed/22348533" } ] }, { "title": "Association of UHRF1 with methylated H3K9 directs the maintenance of DNA methylation.", "journal": "Nature structural & molecular biology", "date": "2012", "authors": "Rothbart SB, Krajewski K, Nady N, Tempel W, Xue S, Badeaux AI, Barsyte-Lovejoy D, Martinez JY, Bedford MT, Fuchs SM, Arrowsmith CH, Strahl BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "23022729", "url": "https://glygen.org/publication/PubMed/23022729" } ] }, { "title": "Structural insight into coordinated recognition of trimethylated histone H3 lysine 9 (H3K9me3) by the plant homeodomain (PHD) and tandem tudor domain (TTD) of UHRF1 (ubiquitin-like, containing PHD and RING finger domains, 1) protein.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Cheng J, Yang Y, Fang J, Xiao J, Zhu T, Chen F, Wang P, Li Z, Yang H, Xu Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "23161542", "url": "https://glygen.org/publication/PubMed/23161542" } ] }, { "title": "Multivalent histone engagement by the linked tandem Tudor and PHD domains of UHRF1 is required for the epigenetic inheritance of DNA methylation.", "journal": "Genes & development", "date": "2013", "authors": "Rothbart SB, Dickson BM, Ong MS, Krajewski K, Houliston S, Kireev DB, Arrowsmith CH, Strahl BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "23752590", "url": "https://glygen.org/publication/PubMed/23752590" } ] }, { "title": "The UHRF1 protein stimulates the activity and specificity of the maintenance DNA methyltransferase DNMT1 by an allosteric mechanism.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Bashtrykov P, Jankevicius G, Jurkowska RZ, Ragozin S, Jeltsch A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5334118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5334118" } ], "reference": [ { "type": "PubMed", "id": "24368767", "url": "https://glygen.org/publication/PubMed/24368767" } ] }, { "title": "Methylation-directed glycosylation of chromatin factors represses retrotransposon promoters.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2020", "authors": "Boulard M, Rucli S, Edwards JR, Bestor TH", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UJW3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UJW3" } ], "reference": [ { "type": "PubMed", "id": "32522876", "url": "https://glygen.org/publication/PubMed/32522876" } ] }, { "title": "Decoding the Genetic Alterations in Genes of DNMT Family (DNA Methyl-Transferase) and their Association with Head and Neck Squamous Cell Carcinoma.", "journal": "Asian Pacific 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