{ "uniprot_canonical_ac": "O95243-1", "uniprot_ac": "O95243", "uniprot_id": "MBD4_HUMAN", "mass": { "chemical_mass": 66051.0, "monoisotopic_mass": 66051.0 }, "refseq": { "ac": "NP_001263199", "name": "methyl-CpG-binding domain protein 4 isoform 2", "summary": "The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains an MBD domain at the N-terminus that functions both in binding to methylated DNA and in protein interactions and a C-terminal mismatch-specific glycosylase domain that is involved in DNA repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263199" }, "gene_names": [ { "name": "MBD4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95243", "id": "O95243" }, { "name": "MBD4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263199", "id": "NP_001263199" }, { "name": "MED1; TPDS2; UVM1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263199", "id": "NP_001263199" }, { "name": "MED1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95243", "id": "O95243" } ], "protein_names": [ { "name": "Methyl-CpG-binding domain protein 4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95243" }, { "name": "3,N(4)-ethenocytosine glycosylase; G/T mismatch glycosylase; G/U mismatch glycosylase; methyl-CpG binding domain protein 4; G/5-fluorouracil mismatch glycosylase with biphasic kinetics; putative methyl-CpG binding protein; methyl-CpG-binding protein MBD4; methyl-CpG-binding endonuclease 1; mismatch-specific DNA N-glycosylase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263199", "id": "NP_001263199" }, { "name": "3.2.2.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95243" }, { "name": "Methyl-CpG-binding endonuclease 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95243" }, { "name": "Methyl-CpG-binding protein MBD4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95243" }, { "name": "Mismatch-specific DNA N-glycosylase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95243" }, { "name": "methyl-CpG-binding domain protein 4 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263199", "id": "NP_001263199" } ], "function": [ { "annotation": "Germline loss-of-function variants in MBD4 are rare in Finnish patients with uveal melanoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001263199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263199" }, { "database": "PubMed", "id": "32421892", "url": "https://glygen.org/publication/PubMed/32421892" } ] }, { "annotation": "MBD4 deficiency is predictive of response to immune checkpoint inhibitors in metastatic uveal melanoma patients.", "evidence": [ { "database": "RefSeq", "id": "NP_001263199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263199" }, { "database": "PubMed", "id": "35863105", "url": "https://glygen.org/publication/PubMed/35863105" } ] }, { "annotation": "MBD4 loss results in global reactivation of promoters and retroelements with low methylated CpG density. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001263199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263199" }, { "database": "PubMed", "id": "37957685", "url": "https://glygen.org/publication/PubMed/37957685" } ] }, { "annotation": "Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is specific for G:T mismatches within methylated and unmethylated CpG sites. Can also remove uracil or 5-fluorouracil in G:U mismatches. Has no lyase activity. Was first identified as methyl-CpG-binding protein.", "evidence": [ { "database": "UniProtKB", "id": "O95243", "url": "https://www.uniprot.org/uniprot/O95243#function" }, { "database": "PubMed", "id": "10097147", "url": "https://glygen.org/publication/PubMed/10097147" }, { "database": "PubMed", "id": "10930409", "url": "https://glygen.org/publication/PubMed/10930409" } ] }, { "annotation": "Structural Insights into the Mechanism of Base Excision by MBD4.", "evidence": [ { "database": "RefSeq", "id": "NP_001263199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263199" }, { "database": "PubMed", "id": "34107280", "url": "https://glygen.org/publication/PubMed/34107280" } ] }, { "annotation": "The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains an MBD domain at the N-terminus that functions both in binding to methylated DNA and in protein interactions and a C-terminal mismatch-specific glycosylase domain that is involved in DNA repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001263199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263199" } ] }, { "annotation": "[Comparative Analysis of the Activity of the Polymorphic Variants of Human Uracil-DNA-Glycosylases SMUG1 and MBD4].", "evidence": [ { "database": "RefSeq", "id": "NP_001263199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263199" }, { "database": "PubMed", "id": "33871441", "url": "https://glygen.org/publication/PubMed/33871441" } ] } ], "disease": [ { "disease_id": "DOID:6039", "recommended_name": { "id": "DOID:6039", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6039", "name": "uveal melanoma", "description": "A uveal cancer that has_material_basis_in uvea pigment cells." }, "synonyms": [ { "id": "DOID:6039", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6039", "name": "melanoma of Uvea", "description": "" }, { "id": "MONDO:0006486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006486", "name": "uveal melanoma", "description": "A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." }, { "id": "MONDO:0006486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006486", "name": "intraocular melanoma", "description": "" }, { "id": "MONDO:0006486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006486", "name": "melanoma (disease) of uvea", "description": "" }, { "id": "MONDO:0006486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006486", "name": "melanoma of the uvea", "description": "" }, { "id": "MONDO:0006486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006486", "name": "melanoma of uvea", "description": "" }, { "id": "MONDO:0006486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006486", "name": "melanoma, uveal, malignant", "description": "" }, { "id": "MONDO:0006486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006486", "name": "uvea melanoma", "description": "" }, { "id": "MONDO:0006486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006486", "name": "uvea melanoma (disease)", "description": "" }, { "id": "MONDO:0006486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006486", "name": "uveal melanoma", "description": "" }, { "id": "MONDO:0006486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006486", "name": "iris melanoma", "description": "" }, { "id": "MONDO:0006486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006486", "name": "choroidal melanoma", "description": "" }, { "id": "MONDO:0011695", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011695", "name": "melanoma, uveal, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011695", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011695", "name": "UVM1", "description": "" }, { "id": "MONDO:0011695", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011695", "name": "melanoma, uveal, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011695", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011695", "name": "melanoma, uveal, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0011696", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011696", "name": "melanoma, uveal, susceptibility to, 2", "description": "" }, { "id": "MONDO:0011696", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011696", "name": "UVM2", "description": "" }, { "id": "MONDO:0011696", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011696", "name": "melanoma, uveal, susceptibility to, 2", "description": "" }, { "id": "MONDO:0011696", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011696", "name": "melanoma, uveal, susceptibility to, type 2", "description": "" }, { "id": "MIM:606660", "resource": "MIM", "url": "https://www.omim.org/entry/606660", "name": "Melanoma, uveal, 1", "description": "Melanoma, uveal, 1" }, { "id": "MIM:606661", "resource": "MIM", "url": "https://www.omim.org/entry/606661", "name": "Melanoma, uveal, 2", "description": "Melanoma, uveal, 2" } ], "evidence": [ { "id": "606660", "database": "MIM", "url": "https://www.omim.org/entry/606660" } ] }, { "disease_id": "MONDO:0859267", "recommended_name": { "id": "MONDO:0859267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859267", "name": "tumor predisposition syndrome 2", "description": "" }, "synonyms": [ { "id": "MIM:619975", "resource": "MIM", "url": "https://www.omim.org/entry/619975", "name": "Tumor predisposition syndrome 2", "description": "Tumor predisposition syndrome 2" } ], "evidence": [ { "id": "619975", "database": "MIM", "url": "https://www.omim.org/entry/619975" } ] } ], "snv": [ { "evidence": [ { "id": "O95243", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95243" } ], "glycoeffect": [], "start_pos": 346, "end_pos": 346, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: Lit. mined (3).", "chr_id": "3", "chr_pos": "129436608", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E346", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 560, "end_pos": 560, "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of DNAN-glycosylase activity.", "evidence": [ { "database": "UniProtKB", "id": "O95243", "url": "https://www.uniprot.org/uniprot/O95243" }, { "database": "PubMed", "id": "30049810", "url": "https://glygen.org/publication/PubMed/30049810" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "88.8", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000129071", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129071" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "96.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129071", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129071" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "89.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129071", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129071" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "80.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000129071", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129071" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "92.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129071", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129071" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "92.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129071", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129071" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "89.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129071", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129071" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "92.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129071", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129071" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "92.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129071", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129071" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "89.26", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000129071", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129071" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "93.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129071", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129071" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "91.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129071", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129071" } ] }, { "tissue": { "name": "Thoracic mammary 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"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", 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95243", "url": "https://www.uniprot.org/uniprot/O95243" } ], "common_name": "Human" } ], "gene": [ { "name": "MBD4", "url": "https://www.uniprot.org/uniprot/O95243", "locus": { "chromosome": "3", "start_pos": 129430947, "end_pos": 129440179, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000129071", "url": "https://www.ensembl.org/id/ENSG00000129071" } ] } } ], "crossref": [ { "id": "ENSG00000129071", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129071", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O95243", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95243", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd01396", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd01396", "database": "CDD", 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"https://www.rcsb.org/structure/4OFA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4OFE", "url": "https://www.rcsb.org/structure/4OFE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4OFH", "url": "https://www.rcsb.org/structure/4OFH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5CHZ", "url": "https://www.rcsb.org/structure/5CHZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6VJW", "url": "https://www.rcsb.org/structure/6VJW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7KZ0", "url": "https://www.rcsb.org/structure/7KZ0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7KZ1", "url": "https://www.rcsb.org/structure/7KZ1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7KZG", "url": "https://www.rcsb.org/structure/7KZG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF01429", "url": "http://pfam.xfam.org/family/PF01429", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95243", "url": "https://pharos.nih.gov/targets/O95243", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95243", "url": "http://purl.obolibrary.org/obo/PR_O95243", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-110329", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110329", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-110357", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110357", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001263199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263199", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "D6RBI7", "url": "https://www.uniprot.org/uniprot/D6RBI7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RBI7-1", "url": "https://www.uniprot.org/uniprot/D6RBI7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95243", "url": "https://www.uniprot.org/uniprot/O95243", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95243-1", "url": "https://www.uniprot.org/uniprot/O95243-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95243-2", "url": "https://www.uniprot.org/uniprot/O95243-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95243-3", "url": "https://www.uniprot.org/uniprot/O95243-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95243-5", "url": "https://www.uniprot.org/uniprot/O95243-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95243-6", "url": "https://www.uniprot.org/uniprot/O95243-6", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGTTGLESLSLGDRGAAPTVTSSERLVPDPPNDLRKEDVAMELERVGEDEEQMMIKRSSECNPLLQEPIASAQFGATAGTECRKSVPCGWERVVKQRLFGKTAGRFDVYFISPQGLKFRSKSSLANYLHKNGETSLKPEDFDFTVLSKRGIKSRYKDCSMAALTSHLQNQSNNSNWNLRTRSKCKKDVFMPPSSSSELQESRGLSNFTSTHLLLKEDEGVDDVNFRKVRKPKGKVTILKGIPIKKTKKGCRKSCSGFVQSDSKRESVCNKADAESEPVAQKSQLDRTVCISDAGACGETLSVTSEENSLVKKKERSLSSGSNFCSEQKTSGIINKFCSAKDSEHNEKYEDTFLESEEIGTKVEVVERKEHLHTDILKRGSEMDNNCSPTRKDFTGEKIFQEDTIPRTQIERRKTSLYFSSKYNKEALSPPRRKAFKKWTPPRSPFNLVQETLFHDPWKLLIATIFLNRTSGKMAIPVLWKFLEKYPSAEVARTADWRDVSELLKPLGLYDLRAKTIVKFSDEYLTKQWKYPIELHGIGKYGNDSYRIFCVNEWKQVHPEDHKLNKYHDWLWENHEKLSLS", "length": 580, "header": "sp|O95243-1|MBD4_HUMAN Isoform 1 of Methyl-CpG-binding domain protein 4 OS=Homo sapiens OX=9606 GN=MBD4 PE=1 SV=1 CANONICAL=O95243-1" }, "isoforms": [ { "isoform_ac": "D6RBI7-1", "url": "", "sequence": { "sequence": "MGTTGLESLSLGDRGAAPTVTSSERLVPDPPNDLRQNGNTCALEVSGEVSFS", "length": 52, "header": "tr|D6RBI7-1|MBD4_HUMAN Computationally mapped isoform of Methyl-CpG-binding domain protein 4 OS=Homo sapiens OX=9606 GN=MBD4 PE=1 SV=1 CANONICAL=O95243-1" }, "locus": { "chromosome": "3", "start_pos": 129439833, "end_pos": 129433196, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000509828.1", "url": "https://www.ensembl.org/id/ENST00000509828.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000422690.1", "url": "https://www.ensembl.org/id/ENSP00000422690.1" } ] } }, { "isoform_ac": "O95243-1", "url": "", "sequence": { "sequence": "MGTTGLESLSLGDRGAAPTVTSSERLVPDPPNDLRKEDVAMELERVGEDEEQMMIKRSSECNPLLQEPIASAQFGATAGTECRKSVPCGWERVVKQRLFGKTAGRFDVYFISPQGLKFRSKSSLANYLHKNGETSLKPEDFDFTVLSKRGIKSRYKDCSMAALTSHLQNQSNNSNWNLRTRSKCKKDVFMPPSSSSELQESRGLSNFTSTHLLLKEDEGVDDVNFRKVRKPKGKVTILKGIPIKKTKKGCRKSCSGFVQSDSKRESVCNKADAESEPVAQKSQLDRTVCISDAGACGETLSVTSEENSLVKKKERSLSSGSNFCSEQKTSGIINKFCSAKDSEHNEKYEDTFLESEEIGTKVEVVERKEHLHTDILKRGSEMDNNCSPTRKDFTGEKIFQEDTIPRTQIERRKTSLYFSSKYNKEALSPPRRKAFKKWTPPRSPFNLVQETLFHDPWKLLIATIFLNRTSGKMAIPVLWKFLEKYPSAEVARTADWRDVSELLKPLGLYDLRAKTIVKFSDEYLTKQWKYPIELHGIGKYGNDSYRIFCVNEWKQVHPEDHKLNKYHDWLWENHEKLSLS", "length": 580, "header": "sp|O95243-1|MBD4_HUMAN Isoform 1 of Methyl-CpG-binding domain protein 4 OS=Homo sapiens OX=9606 GN=MBD4 PE=1 SV=1 CANONICAL=O95243-1" }, "locus": { "chromosome": "3", "start_pos": 129439833, "end_pos": 129431504, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000249910.5", "url": "https://www.ensembl.org/id/ENST00000249910.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000249910.1", "url": "https://www.ensembl.org/id/ENSP00000249910.1" } ] } }, { "isoform_ac": "O95243-2", "url": "", "sequence": { "sequence": "MGTTGLESLSLGDRGAAPTVTSSERLVPDPPNDLRKEDVAMELERVGEDEEQMMIKRSSECNPLLQEPIASAQFGATAGTECRKSVPCGWERVVKQRLFGKTAGRFDVYFISPQGLKFRSKSSLANYLHKNGETSLKPEDFDFTVLSKRGIKSRYKDCSMAALTSHLQNQSNNSNWNLRTRSKCKKDVFMPPSSSSELQESRGLSNFTSTHLLLKEDEGVDDVNFRKVRKPKGKVTILKGIPIKKTKKGCRKSCSGFVQSDSKRESVCNKADAESEPVAQKSQLDRTVCISDAGACGETLSVTSEENSLVKKKERSLSSGSNFCSEQKTSGIINKFCSAKDSEHNEKYEDTFLESEEIGTKVEVVERKEHLHTDILKRGSEMDNNCSPTRKDFTEDTIPRTQIERRKTSLYFSSKYNKEALSPPRRKAFKKWTPPRSPFNLVQETLFHDPWKLLIATIFLNRTSGKMAIPVLWKFLEKYPSAEVARTADWRDVSELLKPLGLYDLRAKTIVKFSDEYLTKQWKYPIELHGIGKYGNDSYRIFCVNEWKQVHPEDHKLNKYHDWLWENHEKLSLS", "length": 574, "header": "sp|O95243-2|MBD4_HUMAN Isoform 2 of Methyl-CpG-binding domain protein 4 OS=Homo sapiens OX=9606 GN=MBD4 PE=1 SV=1 CANONICAL=O95243-1" }, "locus": { "chromosome": "3", "start_pos": 129439833, "end_pos": 129431504, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000429544.7", "url": "https://www.ensembl.org/id/ENST00000429544.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000394080.2", "url": "https://www.ensembl.org/id/ENSP00000394080.2" } ] } }, { "isoform_ac": "O95243-3", "url": "", "sequence": { "sequence": "MGTTGLESLSLGDRGAAPTVTSSERLVPDPPNDLRKEDVAMELERVGEDEEQMMIKRSSECNPLLQEPIASAQFGATAGTECRKSVPCGWERVVKQRLFGKTAGRFDVYFISPQGLKFRSKSSLANYLHKNGETSLKPEDFDFTVLSKRGIKSRYKDCSMAALTSHLQNQSNNSNWNLRTRSKCKKDVFMPPSSSSELQESRGLSNFTSTHLLLKEDEGVDDVNFRKVRKPKGKVTILKGIPIKKTKKGCRKSCSGFVQSDSKRESVCNKADAESEPVAQKSQLDRTVCISDAGACGETLSVTSEENSLVKKKERSLSSGSNFCSEQKTSGIINKFCSAKDSEHNEKYEDTFLESEEIGTKVEVVERKEHLHTDILKRGSEMDNNCSPTRKDFTGEKIFQEDTIPRTQIERRKTSLYFSSKYNKEALSPPRRKAFKKWTPPRSPFNLVQETLFHDPWKLLIATIFLNRTSGKMAIPVLWKFLEKYPSAEVARTADWRDVSELLKPLGLYDLRAKTIVKFSDEYLTKQWKYPIELHGIGAP", "length": 540, "header": "sp|O95243-3|MBD4_HUMAN Isoform 3 of Methyl-CpG-binding domain protein 4 OS=Homo sapiens OX=9606 GN=MBD4 PE=1 SV=1 CANONICAL=O95243-1" }, "locus": { "chromosome": "3", "start_pos": 129439833, "end_pos": 129431571, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000503197.5", "url": "https://www.ensembl.org/id/ENST00000503197.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000424873.1", "url": "https://www.ensembl.org/id/ENSP00000424873.1" } ] } }, { "isoform_ac": "O95243-5", "url": "", "sequence": { "sequence": "MGTTGLESLSLGDRGAAPTVTSSERLVPDPPNDLRKEDVAMELERVGEDEEQMMIKRSSECNPLLQEPIASAQFGATAGTECRKSVPCGWERVVKQRLFGKTAGRFDVYFISPQGLKFRSKSSLANYLHKNGETSLKPEDFDFTVLSKRGIKSRYKDCSMAALTSHLQNQSNNSNWNLRTRSKCKKDVFMPPSSSSELQESRGLSNFTSTHLLLKEDEGVDDVNFRKVRKPKGKVTILKGIPIKKTKKGCRKSCSGFVQSDSKRESVCNKADAESEPVAQKSQLDRTVCISDAGACGETLSVTSEENSLVKKKERSLSSGSNFCSEQKTSGIINKFCSAKDSEHNEKYEDTFLESEEIGTKVEVVERKEHLHTDILKRGSEMDNNCSPTRKDFTGEKIFQEDTIPRTQIERRKTSLYFSSKYNKEALSPPRRKAFKKWTPPRSPFNLVQETLFHDPWKLLIATIFLNRTSGKMAIPVLWKFLEKYPSAEVARTADWRDVSELLKPLGLYDLRAKTIVKFSDEYLTKQWKYPIELHGIGKYGNDSYRIFCVNEWKQVRLTPIHNSAHLVSEAK", "length": 572, "header": "sp|O95243-5|MBD4_HUMAN Isoform 5 of Methyl-CpG-binding domain protein 4 OS=Homo sapiens OX=9606 GN=MBD4 PE=1 SV=1 CANONICAL=O95243-1" }, "locus": { "chromosome": "3", "start_pos": 129439833, "end_pos": 129432452, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000507208.1", "url": "https://www.ensembl.org/id/ENST00000507208.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000422327.1", "url": "https://www.ensembl.org/id/ENSP00000422327.1" } ] } }, { "isoform_ac": "O95243-6", "url": "", "sequence": { "sequence": "MGTTGLESLSLGDRGAAPTVTSSERLVPDPPNDLRKEDVAMELERVGEDEEQMMIKRSSECNPLLQEPIASAQFGATAGTECQDTIPRTQIERRKTSLYFSSKYNKEALSPPRRKAFKKWTPPRSPFNLVQETLFHDPWKLLIATIFLNRTSGKMAIPVLWKFLEKYPSAEVARTADWRDVSELLKPLGLYDLRAKTIVKFSDEYLTKQWKYPIELHGIGKYGNDSYRIFCVNEWKQVHPEDHKLNKYHDWLWENHEKLSLS", "length": 262, "header": "sp|O95243-6|MBD4_HUMAN Isoform 6 of Methyl-CpG-binding domain protein 4 OS=Homo sapiens OX=9606 GN=MBD4 PE=1 SV=1 CANONICAL=O95243-1" }, "locus": { "chromosome": "3", "start_pos": 129439833, "end_pos": 129431504, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000393278.6", "url": "https://www.ensembl.org/id/ENST00000393278.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000376959.2", "url": "https://www.ensembl.org/id/ENSP00000376959.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O95243", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95243" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "phosphorylation": [ { "start_pos": 102, "end_pos": 102, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95243", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95243" }, { "database": "PubMed", "id": "32387766", "url": "" } ], "site_lbl": "Thr102" }, { "start_pos": 318, "end_pos": 318, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95243", "url": "https://www.uniprot.org/uniprot/O95243" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95243", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95243" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O95243", "url": "http://phospho.elm.eu.org/byAccession/O95243.html" } ], "site_lbl": "Ser318" }, { "start_pos": 428, "end_pos": 428, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95243", "url": "https://www.uniprot.org/uniprot/O95243" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95243", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95243" } ], "site_lbl": "Ser428" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Identification of a new uracil-DNA glycosylase family by expression cloning using synthetic inhibitors.", "journal": "Current biology : CB", "date": "1999", "authors": "Haushalter KA, Todd Stukenberg MW, Kirschner MW, Verdine GL", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "10074426", "url": "https://glygen.org/publication/PubMed/10074426" } ] }, { "title": "MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999-03-30", "authors": "Bellacosa A, Cicchillitti L, Schepis F, Riccio A, Yeung A T, Matsumoto Y, Golemis E A, Genuardi M, Neri G", "evidence": [ { "database": "UniProtKB", "id": "O95243", "url": "https://www.uniprot.org/uniprot/O95243" } ], "reference": [ { "type": "PubMed", "id": "10097147", "url": "https://glygen.org/publication/PubMed/10097147" } ] }, { "title": "Genomic structure and chromosomal mapping of the murine and human mbd1, mbd2, mbd3, and mbd4 genes.", "journal": "Mamm. Genome", "date": "1999", "authors": "Hendrich B, Abbott C, McQueen H, Chambers D, Cross S, Bird A", "evidence": [ { "database": "UniProtKB", "id": "O95243", "url": "https://www.uniprot.org/uniprot/O95243" } ], "reference": [ { "type": "PubMed", "id": "10441743", "url": "https://glygen.org/publication/PubMed/10441743" } ] }, { "title": "Cell-cycle regulation, intracellular sorting and induced overexpression of the human NTH1 DNA glycosylase involved in removal of formamidopyrimidine residues from DNA.", "journal": "Mutation research", "date": "2000", "authors": "Luna L, Bjoras M, Hoff E, Rognes T, Seeberg E", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "10882850", "url": "https://glygen.org/publication/PubMed/10882850" } ] }, { "title": "Biphasic kinetics of the human DNA repair protein MED1 (MBD4), a mismatch-specific DNA N-glycosylase.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Petronzelli F, Riccio A, Markham GD, Seeholzer SH, Stoerker J, Genuardi M, Yeung AT, Matsumoto Y, Bellacosa A", "evidence": [ { "database": "UniProtKB", "id": "O95243", "url": "https://www.uniprot.org/uniprot/O95243" }, { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "10930409", "url": "https://glygen.org/publication/PubMed/10930409" } ] }, { "title": "Investigation of the substrate spectrum of the human mismatch-specific DNA N-glycosylase MED1 (MBD4): fundamental role of the catalytic domain.", "journal": "Journal of cellular physiology", "date": "2000", "authors": "Petronzelli F, Riccio A, Markham GD, Seeholzer SH, Genuardi M, Karbowski M, Yeung AT, Matsumoto Y, Bellacosa A", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "11056019", "url": "https://glygen.org/publication/PubMed/11056019" } ] }, { "title": "Stimulation of human 8-oxoguanine-DNA glycosylase by AP-endonuclease: potential coordination of the initial steps in base excision repair.", "journal": "Nucleic acids research", "date": "2001", "authors": "Hill JW, Hazra TK, Izumi T, Mitra S", "evidence": [ { "database": "Reactome", "id": "R-HSA-110357", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110357" } ], "reference": [ { "type": "PubMed", "id": "11139613", "url": "https://glygen.org/publication/PubMed/11139613" } ] }, { "title": "Enhanced activity of adenine-DNA glycosylase (Myh) by apurinic/apyrimidinic endonuclease (Ape1) in mammalian base excision repair of an A/GO mismatch.", "journal": "Nucleic acids research", "date": "2001", "authors": "Yang H, Clendenin WM, Wong D, Demple B, Slupska MM, Chiang JH, Miller JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-110357", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110357" } ], "reference": [ { "type": "PubMed", "id": "11160897", "url": "https://glygen.org/publication/PubMed/11160897" } ] }, { "title": "Modification of the human thymine-DNA glycosylase by ubiquitin-like proteins facilitates enzymatic turnover.", "journal": "The EMBO journal", "date": "2002", "authors": "Hardeland U, Steinacher R, Jiricny J, Schar P", "evidence": [ { "database": "Reactome", "id": "R-HSA-110357", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110357" } ], "reference": [ { "type": "PubMed", "id": "11889051", "url": "https://glygen.org/publication/PubMed/11889051" } ] }, { "title": "Identification and characterization of a human DNA glycosylase for repair of modified bases in oxidatively damaged DNA.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Hazra TK, Izumi T, Boldogh I, Imhoff B, Kow YW, Jaruga P, Dizdaroglu M, Mitra S", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "11904416", "url": "https://glygen.org/publication/PubMed/11904416" } ] }, { "title": "Identification and characterization of a novel human DNA glycosylase for repair of cytosine-derived lesions.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Hazra TK, Kow YW, Hatahet Z, Imhoff B, Boldogh I, Mokkapati SK, Mitra S, Izumi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-110329", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110329" } ], "reference": [ { "type": "PubMed", "id": "12097317", "url": "https://glygen.org/publication/PubMed/12097317" } ] }, { "title": "Identification of 5-formyluracil DNA glycosylase activity of human hNTH1 protein.", "journal": "Nucleic acids research", "date": "2002", "authors": "Miyabe I, Zhang QM, Kino K, Sugiyama H, Takao M, Yasui A, Yonei S", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "12140329", "url": "https://glygen.org/publication/PubMed/12140329" } ] }, { "title": "Mismatch repair in methylated DNA. Structure and activity of the mismatch-specific thymine glycosylase domain of methyl-CpG-binding protein MBD4.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Wu P, Qiu C, Sohail A, Zhang X, Bhagwat AS, Cheng X", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "12456671", "url": "https://glygen.org/publication/PubMed/12456671" } ] }, { "title": "Substrate specificity of human endonuclease III (hNTH1). Effect of human APE1 on hNTH1 activity.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Marenstein DR, Chan MK, Altamirano A, Basu AK, Boorstein RJ, Cunningham RP, Teebor GW", "evidence": [ { "database": "Reactome", "id": "R-HSA-110357", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110357" } ], "reference": [ { "type": "PubMed", "id": "12519758", "url": "https://glygen.org/publication/PubMed/12519758" } ] }, { "title": "Fas-associated death domain protein interacts with methyl-CpG binding domain protein 4: a potential link between genome surveillance and apoptosis.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2003", "authors": "Screaton RA, Kiessling S, Sansom OJ, Millar CB, Maddison K, Bird A, Clarke AR, Frisch SM", "evidence": [ { "database": "UniProtKB", "id": "O95243", "url": "https://www.uniprot.org/uniprot/O95243" } ], "reference": [ { "type": "PubMed", "id": "12702765", "url": "https://glygen.org/publication/PubMed/12702765" } ] }, { "title": "Mammalian 5-formyluracil-DNA glycosylase. 2. Role of SMUG1 uracil-DNA glycosylase in repair of 5-formyluracil and other oxidized and deaminated base lesions.", "journal": "Biochemistry", "date": "2003", "authors": "Masaoka A, Matsubara M, Hasegawa R, Tanaka T, Kurisu S, Terato H, Ohyama Y, Karino N, Matsuda A, Ide H", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "12718543", "url": "https://glygen.org/publication/PubMed/12718543" } ] }, { "title": "Oxidative DNA damage and disease: induction, repair and significance.", "journal": "Mutation research", "date": "2004", "authors": "Evans MD, Dizdaroglu M, Cooke MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "15341901", "url": "https://glygen.org/publication/PubMed/15341901" } ] }, { "title": "Repair of U/G and U/A in DNA by UNG2-associated repair complexes takes place predominantly by short-patch repair both in proliferating and growth-arrested cells.", "journal": "Nucleic acids research", "date": "2004", "authors": "Akbari M, Otterlei M, Pena-Diaz J, Aas PA, Kavli B, Liabakk NB, Hagen L, Imai K, Durandy A, Slupphaug G, Krokan HE", "evidence": [ { "database": "Reactome", "id": "R-HSA-110357", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110357" } ], "reference": [ { "type": "PubMed", "id": "15479784", "url": "https://glygen.org/publication/PubMed/15479784" } ] }, { "title": "Human 3-methyladenine-DNA glycosylase: effect of sequence context on excision, association with PCNA, and stimulation by AP endonuclease.", "journal": "Journal of molecular biology", "date": "2005", "authors": "Xia L, Zheng L, Lee HW, Bates SE, Federico L, Shen B, O'Connor TR", "evidence": [ { "database": "Reactome", "id": "R-HSA-110357", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110357" } ], "reference": [ { "type": "PubMed", "id": "15713479", "url": "https://glygen.org/publication/PubMed/15713479" } ] }, { "title": "Functionality of human thymine DNA glycosylase requires SUMO-regulated changes in protein conformation.", "journal": "Current biology : CB", "date": "2005", "authors": "Steinacher R, Schar P", "evidence": [ { "database": "Reactome", "id": "R-HSA-110357", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110357" } ], "reference": [ { "type": "PubMed", "id": "15823533", "url": "https://glygen.org/publication/PubMed/15823533" } ] }, { "title": "Repair of formamidopyrimidines in DNA involves different glycosylases: role of the OGG1, NTH1, and NEIL1 enzymes.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Hu J, de Souza-Pinto NC, Haraguchi K, Hogue BA, Jaruga P, Greenberg MM, Dizdaroglu M, Bohr VA", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "16221681", "url": "https://glygen.org/publication/PubMed/16221681" } ] }, { "title": "Glu346Lys polymorphism in the methyl-CpG binding domain 4 gene and the risk of primary lung cancer.", "journal": "Japanese journal of clinical oncology", "date": "2006", "authors": "Shin MC, Lee SJ, Choi JE, Cha SI, Kim CH, Lee WK, Kam S, Kang YM, Jung TH, Park JY", "evidence": [ { "database": "Entrez", "id": "8930", "url": "https://www.ncbi.nlm.nih.gov/gene/8930" } ], "reference": [ { "type": "PubMed", "id": "16803845", "url": "https://glygen.org/publication/PubMed/16803845" } ] }, { "title": "The identification of a novel alternatively spliced form of the MBD4 DNA glycosylase.", "journal": "Oncol. Rep.", "date": "2007", "authors": "Owen Rhiannon M, Baker Rachael D, Bader Scott, Dunlop Malcolm G, Nicholl Iain D", "evidence": [ { "database": "UniProtKB", "id": "O95243", "url": "https://www.uniprot.org/uniprot/O95243" } ], "reference": [ { "type": "PubMed", "id": "17143486", "url": "https://glygen.org/publication/PubMed/17143486" } ] }, { "title": "Uracil-DNA glycosylases SMUG1 and UNG2 coordinate the initial steps of base excision repair by distinct mechanisms.", "journal": "Nucleic acids research", "date": "2007", "authors": "Pettersen HS, Sundheim O, Gilljam KM, Slupphaug G, Krokan HE, Kavli B", "evidence": [ { "database": "Reactome", "id": "R-HSA-110357", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110357" } ], "reference": [ { "type": "PubMed", "id": "17537817", "url": "https://glygen.org/publication/PubMed/17537817" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O95243-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95243-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Coordinating the initial steps of base excision repair. Apurinic/apyrimidinic endonuclease 1 actively stimulates thymine DNA glycosylase by disrupting the product complex.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Fitzgerald ME, Drohat AC", "evidence": [ { "database": "Reactome", "id": "R-HSA-110357", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110357" } ], "reference": [ { "type": "PubMed", "id": "18805789", "url": "https://glygen.org/publication/PubMed/18805789" } ] }, { "title": "The Glu346Lys polymorphism and frameshift mutations of the Methyl-CpG Binding Domain 4 gene in gastrointestinal cancer.", "journal": "Neoplasma", "date": "2009", "authors": "Song JH, Maeng EJ, Cao Z, Kim SY, Nam SW, Lee JY, Park WS", "evidence": [ { "database": "Entrez", "id": "8930", "url": "https://www.ncbi.nlm.nih.gov/gene/8930" } ], "reference": [ { "type": "PubMed", "id": "19469655", "url": "https://glygen.org/publication/PubMed/19469655" } ] }, { "title": "Thymine DNA glycosylase is essential for active DNA demethylation by linked deamination-base excision repair.", "journal": "Cell", "date": "2011", "authors": "Cortellino S, Xu J, Sannai M, Moore R, Caretti E, Cigliano A, Le Coz M, Devarajan K, Wessels A, Soprano D, Abramowitz LK, Bartolomei MS, Rambow F, Bassi MR, Bruno T, Fanciulli M, Renner C, Klein-Szanto AJ, Matsumoto Y, Kobi D, Davidson I, Alberti C, Larue L, Bellacosa A", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "21722948", "url": "https://glygen.org/publication/PubMed/21722948" } ] }, { "title": "Expression and purification of active mouse and human NEIL3 proteins.", "journal": "Protein expression and purification", "date": "2012", "authors": "Liu M, Bandaru V, Holmes A, Averill AM, Cannan W, Wallace SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "22569481", "url": "https://glygen.org/publication/PubMed/22569481" } ] }, { "title": "Biochemical and structural characterization of the glycosylase domain of MBD4 bound to thymine and 5-hydroxymethyuracil-containing DNA.", "journal": "Nucleic acids research", "date": "2012", "authors": "Morera S, Grin I, Vigouroux A, Couve S, Henriot V, Saparbaev M, Ishchenko AA", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "22848106", "url": "https://glygen.org/publication/PubMed/22848106" } ] }, { "title": "Excision of 5-hydroxymethyluracil and 5-carboxylcytosine by the thymine DNA glycosylase domain: its structural basis and implications for active DNA demethylation.", "journal": "Nucleic acids research", "date": "2012", "authors": "Hashimoto H, Hong S, Bhagwat AS, Zhang X, Cheng X", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "22962365", "url": "https://glygen.org/publication/PubMed/22962365" } ] }, { "title": "The MBD4 Glu346Lys polymorphism is associated with the risk of cervical cancer in a Chinese population.", "journal": "International journal of gynecological cancer : official journal of the International Gynecological Cancer Society", "date": "2012", "authors": "Xiong XD, Luo XP, Liu X, Jing X, Zeng LQ, Lei M, Hong XS, Chen Y", "evidence": [ { "database": "Entrez", "id": "8930", "url": "https://www.ncbi.nlm.nih.gov/gene/8930" } ], "reference": [ { "type": "PubMed", "id": "23027038", "url": "https://glygen.org/publication/PubMed/23027038" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O95243", "url": "https://www.uniprot.org/uniprot/O95243" }, { "database": "iPTMnet", "id": "O95243", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95243" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Pre-steady-state fluorescence analysis of damaged DNA transfer from human DNA glycosylases to AP endonuclease APE1.", "journal": "Biochimica et biophysica acta", "date": "2014", "authors": "Kuznetsova AA, Kuznetsov NA, Ishchenko AA, Saparbaev MK, Fedorova OS", "evidence": [ { "database": "Reactome", "id": "R-HSA-110357", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110357" } ], "reference": [ { "type": "PubMed", "id": "25086253", "url": "https://glygen.org/publication/PubMed/25086253" } ] }, { "title": "NEIL1 p.Gln282Stop variant is predominantly localized in the cytoplasm and exhibits reduced activity in suppressing mutations.", "journal": "Gene", "date": "2015", "authors": "Shinmura K, Kato H, Kawanishi Y, Goto M, Tao H, Inoue Y, Nakamura S, Sugimura H", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "26095805", "url": "https://glygen.org/publication/PubMed/26095805" } ] }, { "title": "Tautomerization-dependent recognition and excision of oxidation damage in base-excision DNA repair.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2016", "authors": "Zhu C, Lu L, Zhang J, Yue Z, Song J, Zong S, Liu M, Stovicek O, Gao YQ, Yi C", "evidence": [ { "database": "Reactome", "id": "R-HSA-110329", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110329" } ], "reference": [ { "type": "PubMed", "id": "27354518", "url": "https://glygen.org/publication/PubMed/27354518" } ] }, { "title": "MBD4 guards against methylation damage and germ line deficiency predisposes to clonal hematopoiesis and early-onset AML.", "journal": "Blood", "date": "2018", "authors": "Sanders MA, Chew E, Flensburg C, Zeilemaker A, Miller SE, Al Hinai AS, Bajel A, Luiken B, Rijken M, Mclennan T, Hoogenboezem RM, Kavelaars FG, Frohling S, Blewitt ME, Bindels EM, Alexander WS, Lowenberg B, Roberts AW, Valk PJM, Majewski IJ", "evidence": [ { "database": "UniProtKB", "id": "O95243", "url": "https://www.uniprot.org/uniprot/O95243" } ], "reference": [ { "type": "PubMed", "id": "30049810", "url": "https://glygen.org/publication/PubMed/30049810" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95243", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95243" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Prolonged stable disease in a uveal melanoma patient with germline MBD4 nonsense mutation treated with pembrolizumab and ipilimumab.", "journal": "Immunogenetics", "date": "2019-05", "authors": "Johansson Peter A, Stark Andrew, Palmer Jane M, Bigby Kieron, Brooks Kelly, Rolfe Olivia, Pritchard Antonia L, Whitehead Kevin, Warrier Sunil, Glasson William, Hayward Nicholas K", "evidence": [ { "database": "UniProtKB", "id": "O95243", "url": "https://www.uniprot.org/uniprot/O95243" } ], "reference": [ { "type": "PubMed", "id": "30714079", "url": "https://glygen.org/publication/PubMed/30714079" } ] }, { "title": "A germline MBD4 mutation was identified in a patient with colorectal oligopolyposis and early\u2011onset cancer: A case report.", "journal": "Oncology reports", "date": "2019-09", "authors": "Tanakaya Kohji, Kumamoto Kensuke, Tada Yuhki, Eguchi Hidetaka, Ishibashi Keiichiro, Idani Hitoshi, Tachikawa Tetsuhiko, Akagi Kiwamu, Okazaki Yasushi, Ishida Hideyuki", "evidence": [ { "database": "UniProtKB", "id": "O95243", "url": "https://www.uniprot.org/uniprot/O95243" } ], "reference": [ { "type": "PubMed", "id": "31322271", "url": "https://glygen.org/publication/PubMed/31322271" } ] }, { "title": "Germline MBD4 Mutations and Predisposition to Uveal Melanoma.", "journal": "Journal of the National Cancer Institute", "date": "2021", "authors": "Derrien AC, Rodrigues M, Eeckhoutte A, Dayot S, Houy A, Mobuchon L, Gardrat S, Lequin D, Ballet S, Pierron G, Alsafadi S, Mariani O, El-Marjou A, Matet A, Colas C, Cassoux N, Stern MH", "evidence": [ { "database": "UniProtKB", "id": "O95243", "url": "https://www.uniprot.org/uniprot/O95243" } ], "reference": [ { "type": "PubMed", "id": "32239153", "url": "https://glygen.org/publication/PubMed/32239153" } ] }, { "title": "Germline loss-of-function variants in MBD4 are rare in Finnish patients with uveal melanoma.", "journal": "Pigment cell & melanoma research", "date": "2020", "authors": "Repo P, Jantti JE, Jarvinen RS, Rantala ES, Tall M, Raivio V, Kivela TT, Turunen JA", "evidence": [ { "database": "RefSeq", "id": "NP_001263199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263199" } ], "reference": [ { "type": "PubMed", "id": "32421892", "url": "https://glygen.org/publication/PubMed/32421892" } ] }, { "title": "[Comparative Analysis of the Activity of the Polymorphic Variants of Human Uracil-DNA-Glycosylases SMUG1 and MBD4].", "journal": "Molekuliarnaia biologiia", "date": "2021", "authors": "Alekseeva IV, Bakman AS, Iakovlev DA, Kuznetsov NA, Fedorova OS", "evidence": [ { "database": "RefSeq", "id": "NP_001263199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263199" } ], "reference": [ { "type": "PubMed", "id": "33871441", "url": "https://glygen.org/publication/PubMed/33871441" } ] }, { "title": "Structural Insights into the Mechanism of Base Excision by MBD4.", "journal": "Journal of molecular biology", "date": "2021", "authors": "Pidugu LS, Bright H, Lin WJ, Majumdar C, Van Ostrand RP, David SS, Pozharski E, Drohat AC", "evidence": [ { "database": "RefSeq", "id": "NP_001263199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263199" } ], "reference": [ { "type": "PubMed", "id": "34107280", "url": "https://glygen.org/publication/PubMed/34107280" } ] }, { "title": "Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.", "journal": "American journal of human genetics", "date": "2022-05-05", "authors": "Palles Claire, West Hannah D, Chew Edward, Galavotti Sara, Flensburg Christoffer, Grolleman Judith E, Jansen Erik A M, Curley Helen, Chegwidden Laura, Arbe-Barnes Edward H, Lander Nicola, Truscott Rebekah, Pagan Judith, Bajel Ashish, Sherwood Kitty, Martin Lynn, Thomas Huw, Georgiou Demetra, Fostira Florentia, Goldberg Yael, Adams David J, van der Biezen Simone A M, Christie Michael, Clendenning Mark, Thomas Laura E, Deltas Constantinos, Dimovski Aleksandar J, Dymerska Dagmara, Lubinski Jan, Mahmood Khalid, van der Post Rachel S, Sanders Mathijs, Weitz J\u00fcrgen, Taylor Jenny C, Turnbull Clare, Vreede Lilian, van Wezel Tom, Whalley Celina, Arnedo-Pac Claudia, Caravagna Giulio, Cross William, Chubb Daniel, Frangou Anna, Gruber Andreas J, Kinnersley Ben, Noyvert Boris, Church David, Graham Trevor, Houlston Richard, Lopez-Bigas Nuria, Sottoriva Andrea, Wedge David, , , , Jenkins Mark A, Kuiper Roland P, Roberts Andrew W, Cheadle Jeremy P, Ligtenberg Marjolijn J L, Hoogerbrugge Nicoline, Koelzer Viktor H, Rivas Andres Dacal, Winship Ingrid M, Ponte Clara Ruiz, Buchanan Daniel D, Power Derek G, Green Andrew, Tomlinson Ian P M, Sampson Julian R, Majewski Ian J, de Voer Richarda M", "evidence": [ { "database": "UniProtKB", "id": "O95243", "url": "https://www.uniprot.org/uniprot/O95243" } ], "reference": [ { "type": "PubMed", "id": "35460607", "url": "https://glygen.org/publication/PubMed/35460607" } ] }, { "title": "MBD4 deficiency is predictive of response to immune checkpoint inhibitors in metastatic uveal melanoma patients.", "journal": "European journal of cancer (Oxford, England : 1990)", "date": "2022", "authors": "Saint-Ghislain M, Derrien AC, Geoffrois L, Gastaud L, Lesimple T, Negrier S, Penel N, Kurtz JE, Le Corre Y, Dutriaux C, Gardrat S, Barnhill R, Matet A, Cassoux N, Houy A, Ramtohul T, Servois V, Mariani P, Piperno-Neumann S, Stern MH, Rodrigues M", "evidence": [ { "database": "RefSeq", "id": "NP_001263199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263199" } ], "reference": [ { "type": "PubMed", "id": "35863105", "url": "https://glygen.org/publication/PubMed/35863105" } ] }, { "title": "MBD4 loss results in global reactivation of promoters and retroelements with low methylated CpG density.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2023-11-14", "authors": "Papin Christophe, Ibrahim Abdulkhaleg, Sabir Jamal S M, Le Gras St\u00e9phanie, Stoll Isabelle, Albiheyri Raed S, Zari Ali T, Bahieldin Ahmed, Bellacosa Alfonso, Bronner Christian, Hamiche Ali", "evidence": [ { "database": "RefSeq", "id": "NP_001263199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263199" } ], "reference": [ { "type": "PubMed", "id": "37957685", "url": "https://glygen.org/publication/PubMed/37957685" } ] }, { "title": "Substrate specificity of the Escherichia coli endonuclease III: excision of thymine- and cytosine-derived lesions in DNA produced by radiation-generated free radicals.", "journal": "Biochemistry", "date": "1993", "authors": "Dizdaroglu M, Laval J, Boiteux S", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "8218289", "url": "https://glygen.org/publication/PubMed/8218289" } ] }, { "title": "The purification of a mismatch-specific thymine-DNA glycosylase from HeLa cells.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Neddermann P, Jiricny J", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "8407958", "url": "https://glygen.org/publication/PubMed/8407958" } ] }, { "title": "Cloning and expression of human G/T mismatch-specific thymine-DNA glycosylase.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Neddermann P, Gallinari P, Lettieri T, Schmid D, Truong O, Hsuan JJ, Wiebauer K, Jiricny J", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "8662714", "url": "https://glygen.org/publication/PubMed/8662714" } ] }, { "title": "Reconstitution of human base excision repair with purified proteins.", "journal": "Biochemistry", "date": "1997", "authors": "Nicholl ID, Nealon K, Kenny MK", "evidence": [ { "database": "Reactome", "id": "R-HSA-110357", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110357" } ], "reference": [ { "type": "PubMed", "id": "9200707", "url": "https://glygen.org/publication/PubMed/9200707" } ] }, { "title": "Purification and characterization of human NTH1, a homolog of Escherichia coli endonuclease III. 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Cell. Biol.", "date": "1998", "authors": "Hendrich B, Bird A", "evidence": [ { "database": "UniProtKB", "id": "O95243", "url": "https://www.uniprot.org/uniprot/O95243" } ], "reference": [ { "type": "PubMed", "id": "9774669", "url": "https://glygen.org/publication/PubMed/9774669" } ] }, { "title": "A 55-kDa protein isolated from human cells shows DNA glycosylase activity toward 3,N4-ethenocytosine and the G/T mismatch.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Hang B, Medina M, Fraenkel-Conrat H, Singer B", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "9811839", "url": "https://glygen.org/publication/PubMed/9811839" } ] }, { "title": "Excision of products of oxidative DNA base damage by human NTH1 protein.", "journal": "Biochemistry", "date": "1999", "authors": "Dizdaroglu M, Karahalil B, 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"start_pos": 169, "end_pos": 171, "annotation": "n_glycosylation_sequon" }, { "start_pos": 172, "end_pos": 174, "annotation": "n_glycosylation_sequon" }, { "start_pos": 206, "end_pos": 208, "annotation": "n_glycosylation_sequon" }, { "start_pos": 385, "end_pos": 387, "annotation": "n_glycosylation_sequon" }, { "start_pos": 467, "end_pos": 469, "annotation": "n_glycosylation_sequon" }, { "start_pos": 542, "end_pos": 544, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-110171", "name": "MBD4 glycosylase mediated recognition and binding of an uracil opposite to a guanine at CpG sequences", "equation": "", "summary": "MBD4 (MED1; methyl-CpG-binding domain protein 4) recognizes and binds uracil mispaired with guanine at non-methylated CpG islands. G:U mispairs are generated by oxidative deamination of cytosine (Petronzelli et al. 2000).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95243-1" ], "evidence": [ { "id": "R-HSA-110171", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110171" } ] }, { "id": "R-HSA-110172", "name": "MBD4 glycosylase mediated recognition and binding of a thymine opposite to a guanine at CpG sequences", "equation": "", "summary": "MBD4 (MED1; methyl-CpG-binding domain protein 4) recognizes and binds thymine mispaired with guanine in CpG islands. G:T mispair is generated by oxidative deamination of 5-methylcytosine (Petronzelli et al. 2000). MBD4 contains two DNA binding domains: an N-terminal methyl-CpG binding domain (MBD) and a C-terminal mismatch-specific glycosylase domain (Wu et al. 2003). MBD4 catalytic domain uses a flipping mechanism to extrude the thymine from the helix and thereby detect G:T mispairs (Morera et al. 2012).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95243-1" ], "evidence": [ { "id": "R-HSA-110172", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110172" } ] }, { "id": "R-HSA-110231", "name": "Cleavage of uracil by MBD4 glycosylase", "equation": "", "summary": "MBD4 (MED1; methyl-CpG-binding domain protein 4) cleaves uracil mispaired with guanine at non-methylated CpG islands, leaving an apurinic/apyrimidinic (AP) DNA site (Petronzelli et al. 2000).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95243-1" ], "evidence": [ { "id": "R-HSA-110231", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110231" } ] }, { "id": "R-HSA-110232", "name": "Cleavage of thymine by MBD4 glycosylase", "equation": "", "summary": "MBD4 (MED1; methyl-CpG-binding domain protein 4) cleaves thymine mispaired with guanine at CpG islands, which is a consequence of the oxidative deamination of 5-methylcytosine (Petronzelli et al. 2000). The MBD4 catalytic site is located at the C-terminus (Wu et al. 2003). MBD4 may be involved in the maintenance of genomic stability and active DNA demethylation.", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95243-1" ], "evidence": [ { "id": "R-HSA-110232", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110232" } ] }, { "id": "R-HSA-110353", "name": "Displacement of MBD4 glycosylase by APEX1 at the AP site", "equation": "", "summary": "APEX1 (APE1, HAP1), a DNA apurinic/apyrimidinic (AP) site lyase, displaces MBD4 (MED1) from the AP site generated by the MBD4 DNA glycosylase activity (Kuznetsova et al. 2014).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [ "R-HSA-3006633" ], "enzyme_list": [ "P27695-1", "O95243-1" ], "evidence": [ { "id": "R-HSA-110353", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110353" } ] } ], "reaction_participants": [ { "participant_id": 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