{ "uniprot_canonical_ac": "O75367-2", "uniprot_ac": "O75367", "uniprot_id": "H2AY_HUMAN", "mass": { "chemical_mass": 39184.0, "monoisotopic_mass": 39184.0 }, "refseq": { "ac": "NP_001035248", "name": "core histone macro-H2A.1 isoform 2", "summary": "Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and participates in stable X chromosome inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035248" }, "gene_names": [ { "name": "MACROH2A1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75367", "id": "O75367" }, { "name": "H2A.y; H2A/y; H2AF12M; H2AFY; MACROH2A1.1; macroH2A1.2; mH2A1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035248", "id": "NP_001035248" }, { "name": "H2AFY", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75367", "id": "O75367" }, { "name": "MACROH2A1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035248", "id": "NP_001035248" } ], "protein_names": [ { "name": "Core histone macro-H2A.1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75367" }, { "name": "H2A/y", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75367" }, { "name": "Histone H2A.y", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75367" }, { "name": "Histone macroH2A1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75367" }, { "name": "Medulloblastoma antigen MU-MB-50.205", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75367" }, { "name": "core histone macro-H2A.1 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035248", "id": "NP_001035248" }, { "name": "histone macroH2A1.2; histone macroH2A1.1; core histone macro-H2A.1; histone H2A.y; medulloblastoma antigen MU-MB-50.205; H2A histone family member Y", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035248", "id": "NP_001035248" }, { "name": "mH2A1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75367" } ], "function": [ { "annotation": "Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0.", "evidence": [ { "database": "RefSeq", "id": "NP_001035248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035248" }, { "database": "PubMed", "id": "35072799", "url": "https://glygen.org/publication/PubMed/35072799" } ] }, { "annotation": "High expression of H2A histone family member Y promotes the proliferation and autophagy of hepatocellular carcinoma cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001035248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035248" }, { "database": "PubMed", "id": "35472308", "url": "https://glygen.org/publication/PubMed/35472308" } ] }, { "annotation": "Histone Variant macroH2A1.1 Enhances Nonhomologous End Joining-dependent DNA Double-strand-break Repair and Reprogramming Efficiency of Human iPSCs.", "evidence": [ { "database": "RefSeq", "id": "NP_001035248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035248" }, { "database": "PubMed", "id": "35511867", "url": "https://glygen.org/publication/PubMed/35511867" } ] }, { "annotation": "Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and participates in stable X chromosome inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001035248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035248" } ] }, { "annotation": "In contrast to isoform 1, does not bind poly-ADP-ribose (PubMed:15902274). Represses SOD3 gene expression (PubMed:23022728).", "evidence": [ { "database": "UniProtKB", "id": "O75367", "url": "https://www.uniprot.org/uniprot/O75367#function" }, { "database": "PubMed", "id": "15902274", "url": "https://glygen.org/publication/PubMed/15902274" }, { "database": "PubMed", "id": "23022728", "url": "https://glygen.org/publication/PubMed/23022728" } ] }, { "annotation": "Isoform that specifically binds poly-ADP-ribose and O-acetyl-ADP-ribose and plays a key role in NAD(+) metabolism (PubMed:15902274). Able to bind to the ends of poly-ADP-ribose chains created by PARP1 and cap them (By similarity). This prevents PARP1 from further addition of ADP-ribose and thus limits the consumption of nuclear NAD(+), allowing the cell to maintain proper NAD(+) levels in both the nucleus and the mitochondria to promote proper mitochondrial respiration (By similarity). Increases the expression of genes involved in redox metabolism, including SOD3 (PubMed:23022728).", "evidence": [ { "database": "UniProtKB", "id": "O75367", "url": "https://www.uniprot.org/uniprot/O75367#function" }, { "database": "UniProtKB", "id": "Q9QZQ8", "url": "https://www.uniprot.org/uniprot/Q9QZQ8#function" }, { "database": "PubMed", "id": "15902274", "url": "https://glygen.org/publication/PubMed/15902274" }, { "database": "PubMed", "id": "23022728", "url": "https://glygen.org/publication/PubMed/23022728" } ] }, { "annotation": "MacroH2A1.1 as a crossroad between epigenetics, inflammation and metabolism of mesenchymal stromal cells in myelodysplastic syndromes. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001035248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035248" }, { "database": "PubMed", "id": "37852977", "url": "https://glygen.org/publication/PubMed/37852977" } ] }, { "annotation": "Variant histone H2A which replaces conventional H2A in a subset of nucleosomes where it represses transcription (PubMed:12718888, PubMed:15621527, PubMed:16428466). Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template (PubMed:15897469). Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability (PubMed:15897469). DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Involved in stable X chromosome inactivation (PubMed:15897469). Inhibits the binding of transcription factors, including NF-kappa-B, and interferes with the activity of remodeling SWI/SNF complexes (PubMed:12718888, PubMed:16428466). Inhibits histone acetylation by EP300 and recruits class I HDACs, which induces a hypoacetylated state of chromatin (PubMed:16428466, PubMed:16107708).", "evidence": [ { "database": "UniProtKB", "id": "O75367", "url": "https://www.uniprot.org/uniprot/O75367#function" }, { "database": "PubMed", "id": "15897469", "url": "https://glygen.org/publication/PubMed/15897469" }, { "database": "PubMed", "id": "15621527", "url": "https://glygen.org/publication/PubMed/15621527" }, { "database": "PubMed", "id": "16107708", "url": "https://glygen.org/publication/PubMed/16107708" }, { "database": "PubMed", "id": "16428466", "url": "https://glygen.org/publication/PubMed/16428466" }, { "database": "PubMed", "id": "12718888", "url": "https://glygen.org/publication/PubMed/12718888" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1171135651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1171135651" }, { "id": "rs1171135651", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1171135651" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 170, "end_pos": 170, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->G).", "chr_id": "5", "chr_pos": "135360577", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S170", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75367", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75367" }, { "id": "rs761273750", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761273750" }, { "id": "rs761273750", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761273750" }, { "id": "rs761273750", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761273750" }, { "id": "rs761273750", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761273750#frequency_tab" }, { "id": "rs761273750", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761273750" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 172, "end_pos": 172, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DST->NST).", "chr_id": "5", "chr_pos": "135360571", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D172", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "94.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113648", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113648" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "98.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113648", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113648" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "96.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113648", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113648" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "94.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113648", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113648" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "97.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113648", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113648" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "98.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113648", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113648" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "98.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113648", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113648" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "97.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113648", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113648" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "97.05", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113648", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113648" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "95.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113648", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113648" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "94.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113648", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113648" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113648", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113648" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "97.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113648", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113648" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75367", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75367" } ], "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": 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"" }, { "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 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"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 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hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, 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cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75367", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75367" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75367", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75367" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75367" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75367", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75367" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"https://www.ebi.ac.uk/interpro/entry/IPR002589", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR007125", "url": "https://www.ebi.ac.uk/interpro/entry/IPR007125", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009072", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009072", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR021171", "url": "https://www.ebi.ac.uk/interpro/entry/IPR021171", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032454", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032454", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035796", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035796", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR043472", "url": "https://www.ebi.ac.uk/interpro/entry/IPR043472", "database": "InterPro", "categories": [ "Protein 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Classification" ] }, { "id": "PTHR23430", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23430", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR23430:SF20", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23430:SF20", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1U35", "url": "https://www.rcsb.org/structure/1U35", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1ZR3", "url": "https://www.rcsb.org/structure/1ZR3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1ZR5", "url": "https://www.rcsb.org/structure/1ZR5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2F8N", "url": "https://www.rcsb.org/structure/2F8N", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2FXK", "url": "https://www.rcsb.org/structure/2FXK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3HQH", "url": "https://www.rcsb.org/structure/3HQH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3HSV", "url": "https://www.rcsb.org/structure/3HSV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3IID", "url": "https://www.rcsb.org/structure/3IID", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3IIF", "url": "https://www.rcsb.org/structure/3IIF", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3IVB", "url": "https://www.rcsb.org/structure/3IVB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5IIT", "url": "https://www.rcsb.org/structure/5IIT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5LNC", "url": "https://www.rcsb.org/structure/5LNC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7D3Y", "url": "https://www.rcsb.org/structure/7D3Y", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00125", "url": "http://pfam.xfam.org/family/PF00125", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01661", "url": "http://pfam.xfam.org/family/PF01661", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16211", "url": "http://pfam.xfam.org/family/PF16211", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75367", "url": "https://pharos.nih.gov/targets/O75367", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75367", "url": "http://purl.obolibrary.org/obo/PR_O75367", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001035248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035248", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O75367", "url": "https://www.uniprot.org/uniprot/O75367", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75367-1", "url": "https://www.uniprot.org/uniprot/O75367-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75367-2", "url": "https://www.uniprot.org/uniprot/O75367-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75367-3", "url": "https://www.uniprot.org/uniprot/O75367-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSSRGGKKKSTKTSRSAKAGVIFPVGRMLRYIKKGHPKYRIGVGAPVYMAAVLEYLTAEILELAGNAARDNKKGRVTPRHILLAVANDEELNQLLKGVTIASGGVLPNIHPELLAKKRGSKGKLEAIITPPPAKKAKSPSQKKPVSKKAGGKKGARKSKKKQGEVSKAASADSTTEGTPADGFTVLSTKSLFLGQKLQVVQADIASIDSDAVVHPTNTDFYIGGEVGNTLEKKGGKEFVEAVLELRKKNGPLEVAGAAVSAGHGLPAKFVIHCNSPVWGADKCEELLEKTVKNCLALADDKKLKSIAFPSIGSGRNGFPKQTAAQLILKAISSYFVSTMSSSIKTVYFVLFDSESIGIYVQEMAKLDAN", "length": 369, "header": "sp|O75367-2|H2AY_HUMAN Isoform 2 of Core histone macro-H2A.1 OS=Homo sapiens OX=9606 GN=MACROH2A1 PE=1 SV=5 CANONICAL=O75367-2" }, "isoforms": [ { "isoform_ac": "O75367-1", "url": "", "sequence": { "sequence": "MSSRGGKKKSTKTSRSAKAGVIFPVGRMLRYIKKGHPKYRIGVGAPVYMAAVLEYLTAEILELAGNAARDNKKGRVTPRHILLAVANDEELNQLLKGVTIASGGVLPNIHPELLAKKRGSKGKLEAIITPPPAKKAKSPSQKKPVSKKAGGKKGARKSKKKQGEVSKAASADSTTEGTPADGFTVLSTKSLFLGQKLNLIHSEISNLAGFEVEAIINPTNADIDLKDDLGNTLEKKGGKEFVEAVLELRKKNGPLEVAGAAVSAGHGLPAKFVIHCNSPVWGADKCEELLEKTVKNCLALADDKKLKSIAFPSIGSGRNGFPKQTAAQLILKAISSYFVSTMSSSIKTVYFVLFDSESIGIYVQEMAKLDAN", "length": 372, "header": "sp|O75367-1|H2AY_HUMAN Isoform 1 of Core histone macro-H2A.1 OS=Homo sapiens OX=9606 GN=MACROH2A1 PE=1 SV=5 CANONICAL=O75367-2" }, "locus": { "chromosome": "5", "start_pos": 135389093, "end_pos": 135334979, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000511689.6", "url": "https://www.ensembl.org/id/ENST00000511689.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000423563.1", "url": "https://www.ensembl.org/id/ENSP00000423563.1" } ] } }, { "isoform_ac": "O75367-2", "url": "", "sequence": { "sequence": "MSSRGGKKKSTKTSRSAKAGVIFPVGRMLRYIKKGHPKYRIGVGAPVYMAAVLEYLTAEILELAGNAARDNKKGRVTPRHILLAVANDEELNQLLKGVTIASGGVLPNIHPELLAKKRGSKGKLEAIITPPPAKKAKSPSQKKPVSKKAGGKKGARKSKKKQGEVSKAASADSTTEGTPADGFTVLSTKSLFLGQKLQVVQADIASIDSDAVVHPTNTDFYIGGEVGNTLEKKGGKEFVEAVLELRKKNGPLEVAGAAVSAGHGLPAKFVIHCNSPVWGADKCEELLEKTVKNCLALADDKKLKSIAFPSIGSGRNGFPKQTAAQLILKAISSYFVSTMSSSIKTVYFVLFDSESIGIYVQEMAKLDAN", "length": 369, "header": "sp|O75367-2|H2AY_HUMAN Isoform 2 of Core histone macro-H2A.1 OS=Homo sapiens OX=9606 GN=MACROH2A1 PE=1 SV=5 CANONICAL=O75367-2" }, "locus": { "chromosome": "5", "start_pos": 135389093, "end_pos": 135334979, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000312469.8", "url": "https://www.ensembl.org/id/ENST00000312469.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000310169.4", "url": "https://www.ensembl.org/id/ENSP00000310169.4" } ] } }, { "isoform_ac": "O75367-3", "url": "", "sequence": { "sequence": "MSSRGGKKKSTKTSRSAKAGVIFPVGRMLRYIKKGHPKYRIGVGAPVYMAAVLEYLTAEILELAGNAARDNKKGRVTPRHILLAVANDEELNQLLKGVTIASGGVLPNIHPELLAKKRGSKGKLEAIITPPPAKKAKSPSQKKPVSKKAGGKKGARKSKKQGEVSKAASADSTTEGTPADGFTVLSTKSLFLGQKLNLIHSEISNLAGFEVEAIINPTNADIDLKDDLGNTLEKKGGKEFVEAVLELRKKNGPLEVAGAAVSAGHGLPAKFVIHCNSPVWGADKCEELLEKTVKNCLALADDKKLKSIAFPSIGSGRNGFPKQTAAQLILKAISSYFVSTMSSSIKTVYFVLFDSESIGIYVQEMAKLDAN", "length": 371, "header": "sp|O75367-3|H2AY_HUMAN Isoform 3 of Core histone macro-H2A.1 OS=Homo sapiens OX=9606 GN=MACROH2A1 PE=1 SV=5 CANONICAL=O75367-2" }, "locus": { "chromosome": "5", "start_pos": 135389093, "end_pos": 135334979, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000304332.8", "url": "https://www.ensembl.org/id/ENST00000304332.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000302572.4", "url": "https://www.ensembl.org/id/ENSP00000302572.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 170, "start_aa": "Ser", "end_pos": 170, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser170", "evidence": [ { "id": "O75367", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75367" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "O75367", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75367" } ] }, { "glytoucan_ac": "G70994MS", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 170, "start_aa": "Ser", "end_pos": 170, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser170", "evidence": [ { "id": "GLY_000142", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000142" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" } ] } ], "phosphorylation": [ { "start_pos": 129, "end_pos": 129, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O75367", "url": "https://www.uniprot.org/uniprot/O75367" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "16210244", "url": "https://glygen.org/publication/PubMed/16210244" }, { "database": "iPTMnet", "id": "O75367", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75367" }, { "database": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" }, { "database": "phospho.ELM", "id": "O75367", "url": "http://phospho.elm.eu.org/byAccession/O75367.html" } ], "site_lbl": "Thr129" }, { "start_pos": 138, "end_pos": 138, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75367", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75367" }, { "database": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" }, { "database": "PRO", "id": "O75367", "url": "http://purl.obolibrary.org/obo/O75367" }, { "database": "PubMed", "id": "18227505", "url": "https://glygen.org/publication/PubMed/18227505" } ], "site_lbl": "Ser138" }, { "start_pos": 140, "end_pos": 140, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75367", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75367" }, { "database": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ], "site_lbl": "Ser140" }, { "start_pos": 170, "end_pos": 170, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75367", "url": "https://www.uniprot.org/uniprot/O75367" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O75367", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75367" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O75367", "url": "http://phospho.elm.eu.org/byAccession/O75367.html" } ], "site_lbl": "Ser170" }, { "start_pos": 173, "end_pos": 173, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": 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libraries.", "journal": "Int. J. Cancer", "date": "2003", "authors": "Behrends U, Schneider I, Rossler S, Frauenknecht H, Golbeck A, Lechner B, Eigenstetter G, Zobywalski C, Muller-Weihrich S, Graubner U, Schmid I, Sackerer D, Spath M, Goetz C, Prantl F, Asmuss HP, Bise K, Mautner J", "evidence": [ { "database": "UniProtKB", "id": "O75367", "url": "https://www.uniprot.org/uniprot/O75367" } ], "reference": [ { "type": "PubMed", "id": "12800201", "url": "https://glygen.org/publication/PubMed/12800201" } ] }, { "title": "Formation of MacroH2A-containing senescence-associated heterochromatin foci and senescence driven by ASF1a and HIRA.", "journal": "Developmental cell", "date": "2005", "authors": "Zhang R, Poustovoitov MV, Ye X, Santos HA, Chen W, Daganzo SM, Erzberger JP, Serebriiskii IG, Canutescu AA, Dunbrack RL, Pehrson JR, Berger JM, Kaufman PD, Adams PD", "evidence": [ { "database": "UniProtKB", "id": "O75367", "url": "https://www.uniprot.org/uniprot/O75367" } ], "reference": [ { "type": "PubMed", "id": "15621527", "url": "https://glygen.org/publication/PubMed/15621527" } ] }, { "title": "Stable X chromosome inactivation involves the PRC1 Polycomb complex and requires histone MACROH2A1 and the CULLIN3/SPOP ubiquitin E3 ligase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Hernandez-Munoz I, Lund AH, van der Stoop P, Boutsma E, Muijrers I, Verhoeven E, Nusinow DA, Panning B, Marahrens Y, van Lohuizen M", "evidence": [ { "database": "UniProtKB", "id": "O75367", "url": "https://www.uniprot.org/uniprot/O75367" } ], "reference": [ { "type": "PubMed", "id": "15897469", "url": "https://glygen.org/publication/PubMed/15897469" } ] }, { "title": "The macro domain is an ADP-ribose binding module.", "journal": "The EMBO journal", "date": "2005-06-01", "authors": "Karras Georgios I, Kustatscher Georg, Buhecha Heeran R, Allen Mark D, Pugieux C\u00e9line, Sait Fiona, Bycroft Mark, Ladurner Andreas G", "evidence": [ { "database": "UniProtKB", "id": "O75367", "url": "https://www.uniprot.org/uniprot/O75367" } ], "reference": [ { "type": "PubMed", "id": "15902274", "url": "https://glygen.org/publication/PubMed/15902274" } ] }, { "title": "Splicing regulates NAD metabolite binding to histone macroH2A.", "journal": "Nat. Struct. Mol. Biol.", "date": "2005", "authors": "Kustatscher Georg, Hothorn Michael, Pugieux C\u00e9line, Scheffzek Klaus, Ladurner Andreas G", "evidence": [ { "database": "UniProtKB", "id": "O75367", "url": "https://www.uniprot.org/uniprot/O75367" } ], "reference": [ { "type": "PubMed", "id": "15965484", "url": "https://glygen.org/publication/PubMed/15965484" } ] }, { "title": "Structural characterization of the histone variant macroH2A.", "journal": "Molecular and cellular biology", "date": "2005", "authors": "Chakravarthy S, Gundimella SK, Caron C, Perche PY, Pehrson JR, Khochbin S, Luger K", "evidence": [ { "database": "UniProtKB", "id": "O75367", "url": "https://www.uniprot.org/uniprot/O75367" } ], "reference": [ { "type": "PubMed", "id": "16107708", "url": "https://glygen.org/publication/PubMed/16107708" } ] }, { "title": "Histone variant macroH2A1.2 is mono-ubiquitinated at its histone domain.", "journal": "Biochemical and biophysical research communications", "date": "2005", "authors": "Ogawa Y, Ono T, Wakata Y, Okawa K, Tagami H, Shibahara KI", "evidence": [ { "database": "UniProtKB", "id": "O75367", "url": "https://www.uniprot.org/uniprot/O75367" } ], "reference": [ { "type": "PubMed", "id": "16129414", "url": "https://glygen.org/publication/PubMed/16129414" } ] }, { "title": "Mapping post-translational modifications of the histone variant MacroH2A1 using tandem mass spectrometry.", "journal": "Molecular & cellular proteomics : MCP", "date": "2006", "authors": "Chu F, Nusinow DA, Chalkley RJ, Plath K, Panning B, Burlingame AL", "evidence": [ { "database": "UniProtKB", "id": "O75367", "url": "https://www.uniprot.org/uniprot/O75367" }, { "database": "iPTMnet", "id": "O75367-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75367-2" } ], "reference": [ { "type": "PubMed", "id": "16210244", "url": "https://glygen.org/publication/PubMed/16210244" } ] }, { "title": "Mechanism of polymerase II transcription repression by the histone variant macroH2A.", "journal": "Molecular and cellular biology", "date": "2006-02", "authors": "Doyen C\u00e9cile-Marie, An Woojin, Angelov Dimitar, Bondarenko Vladimir, Mietton Flore, Studitsky Vassily M, Hamiche Ali, Roeder Robert G, Bouvet Philippe, Dimitrov Stefan", "evidence": [ { "database": "UniProtKB", "id": "O75367", "url": "https://www.uniprot.org/uniprot/O75367" } ], "reference": [ { "type": "PubMed", "id": "16428466", "url": "https://glygen.org/publication/PubMed/16428466" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O75367", "url": "https://www.uniprot.org/uniprot/O75367" }, { "database": "iPTMnet", "id": "O75367-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75367-2" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": 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Livingstone M, Zhang H, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "O75367-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75367-2" } ], "reference": [ { "type": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ] }, { "title": "A phosphorylated subpopulation of the histone variant macroH2A1 is excluded from the inactive X chromosome and enriched during mitosis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Bernstein E, Muratore-Schroeder TL, Diaz RL, Chow JC, Changolkar LN, Shabanowitz J, Heard E, Pehrson JR, Hunt DF, Allis CD", "evidence": [ { "database": "iPTMnet", "id": "O75367", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75367" } ], "reference": [ { "type": "PubMed", "id": "18227505", "url": "https://glygen.org/publication/PubMed/18227505" } ] }, { "title": "Motif-specific sampling of 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Struct. Mol. Biol.", "date": "2013", "authors": "Rosenthal F, Feijs KL, Frugier E, Bonalli M, Forst AH, Imhof R, Winkler HC, Fischer D, Caflisch A, Hassa PO, Luscher B, Hottiger MO", "evidence": [ { "database": "UniProtKB", "id": "O75367", "url": "https://www.uniprot.org/uniprot/O75367" } ], "reference": [ { "type": "PubMed", "id": "23474714", "url": "https://glygen.org/publication/PubMed/23474714" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75367", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75367" }, { "database": "O-GlcNAc Atlas", "id": "O75367", "url": "https://oglcnac.org/atlas/detail/O75367" }, { "database": "GlyGen", "id": "GLY_000142", "url": "https://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "DNA repair factor APLF acts as a H2A-H2B histone chaperone through binding its DNA interaction surface.", "journal": "Nucleic Acids Res.", "date": "2018", "authors": "Corbeski I, Dolinar K, Wienk H, Boelens R, van Ingen H", "evidence": [ { "database": "UniProtKB", "id": "O75367", "url": "https://www.uniprot.org/uniprot/O75367" } ], "reference": [ { "type": "PubMed", "id": "29905837", "url": "https://glygen.org/publication/PubMed/29905837" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75367", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75367" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75367", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75367" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75367", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75367" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75367", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75367" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0.", "journal": "Human genetics", "date": "2022", "authors": "Lubin E, Bryant L, Aicher J, Li D, Bhoj E", "evidence": [ { "database": "RefSeq", "id": "NP_001035248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035248" } ], "reference": [ { "type": "PubMed", "id": "35072799", "url": "https://glygen.org/publication/PubMed/35072799" } ] }, { "title": "O-GlcNAcylation promotes fatty acid synthase activity under nutritional stress as a pro-survival mechanism in cancer cells.", "journal": "Proteomics", "date": "2022", "authors": "Wong YK, Wang J, Lim TK, Lin Q, Yap CT, Shen HM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75367", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75367" } ], "reference": [ { "type": "PubMed", "id": "35083852", "url": "https://glygen.org/publication/PubMed/35083852" } ] }, { "title": "High expression of H2A histone family member Y promotes the proliferation and autophagy of hepatocellular carcinoma cells.", "journal": "Bioengineered", "date": "2022", "authors": "Lei J, Ma S, Sun W, Wang D, Lu Z, Zhang D", "evidence": [ { "database": "RefSeq", "id": "NP_001035248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035248" } ], "reference": [ { "type": "PubMed", "id": "35472308", "url": "https://glygen.org/publication/PubMed/35472308" } ] }, { "title": "Histone Variant macroH2A1.1 Enhances Nonhomologous End Joining-dependent DNA Double-strand-break Repair and Reprogramming Efficiency of Human iPSCs.", "journal": "Stem cells (Dayton, Ohio)", "date": "2022", "authors": "Giallongo S, Rehakova D, Biagini T, Lo Re O, Raina P, Lochmanova G, Zdrahal Z, Resnick I, Pata P, Pata I, Mistrik M, de Magalhaes JP, Mazza T, Koutna I, Vinciguerra M", "evidence": [ { "database": "RefSeq", "id": "NP_001035248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035248" } ], "reference": [ { "type": "PubMed", "id": "35511867", "url": "https://glygen.org/publication/PubMed/35511867" } ] }, { "title": "MacroH2A1.1 as a crossroad between epigenetics, inflammation and metabolism of mesenchymal stromal cells in myelodysplastic syndromes.", "journal": "Cell death & disease", "date": "2023-10-18", "authors": "Giallongo C, Dulcamare I, Giallongo S, Duminuco A, Pieragostino D, Cufaro M C, Amorini A M, Lazzarino G, Romano A, Parrinello N, Di Rosa M, Broggi G, Caltabiano R, Caraglia M, Scrima M, Pasquale L S, Tathode M S, Li Volti G, Motterlini R, Di Raimondo F, Tibullo D, Palumbo G A", "evidence": [ { "database": "RefSeq", "id": "NP_001035248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035248" } ], "reference": [ { "type": "PubMed", "id": "37852977", "url": "https://glygen.org/publication/PubMed/37852977" } ] }, { "title": "Histone macroH2A1 is concentrated in the inactive X chromosome of female mammals.", "journal": "Nature", "date": "1998", "authors": "Costanzi C, Pehrson JR", "evidence": [ { "database": "UniProtKB", "id": "O75367", "url": "https://www.uniprot.org/uniprot/O75367" } ], "reference": [ { "type": "PubMed", "id": "9634239", "url": "https://glygen.org/publication/PubMed/9634239" } ] }, { "title": "Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning.", "journal": "Proc. 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} ], "pmid": "" }, { "name": "pericentric heterochromatin", "id": "GO:0005721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005721", "evidence": [ { "database": "UniProtKB", "id": "O75367", "url": "https://www.uniprot.org/uniprot/O75367" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "O75367", "url": "https://www.uniprot.org/uniprot/O75367" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "O75367", "url": "https://www.uniprot.org/uniprot/O75367" } ], "pmid": "" }, { "name": "Barr body", "id": "GO:0001740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001740", "evidence": [ { "database": "UniProtKB", "id": "O75367", "url": "https://www.uniprot.org/uniprot/O75367" } ], "pmid": "" }, { "name": "site of DNA damage", "id": "GO:0090734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090734", "evidence": [ { "database": "UniProtKB", "id": "O75367", "url": "https://www.uniprot.org/uniprot/O75367" } ], "pmid": "" }, { "name": "sex chromatin", "id": "GO:0001739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001739", "evidence": [ { "database": "UniProtKB", "id": "O75367", "url": "https://www.uniprot.org/uniprot/O75367" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [ { "annotation": "Monoubiquitinated at either Lys-116 or Lys-117. May also be polyubiquitinated. Ubiquitination is mediated by the CUL3/SPOP E3 complex and does not promote proteasomal degradation. 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