{ "uniprot_canonical_ac": "O00255-2", "uniprot_ac": "O00255", "uniprot_id": "MEN1_HUMAN", "mass": { "chemical_mass": 67497.0, "monoisotopic_mass": 67497.0 }, "refseq": { "ac": "NP_000235", "name": "menin isoform 1", "summary": "This gene encodes menin, a tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. Menin is a scaffold protein that functions in histone modification and epigenetic gene regulation. It is thought to regulate several pathways and processes by altering chromatin structure through the modification of histones. [provided by RefSeq, May 2019].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000235" }, "gene_names": [ { "name": "MEN1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00255", "id": "O00255" }, { "name": "MEAI; SCG2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000235", "id": "NP_000235" }, { "name": "MEN1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000235", "id": "NP_000235" }, { "name": "SCG2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00255", "id": "O00255" } ], "protein_names": [ { "name": "Menin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00255" }, { "name": "menin isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000235", "id": "NP_000235" } ], "function": [ { "annotation": "Clinically Defined Mutations in MEN1 Alter Its Tumor-suppressive Function Through Increased Menin Turnover. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000235" }, { "database": "PubMed", "id": "37492626", "url": "https://glygen.org/publication/PubMed/37492626" } ] }, { "annotation": "Dependency of B-Cell Acute Lymphoblastic Leukemia and Multiple Myeloma Cell Lines on MEN1 Extends beyond MEN1-KMT2A Interaction. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000235" }, { "database": "PubMed", "id": "38003662", "url": "https://glygen.org/publication/PubMed/38003662" } ] }, { "annotation": "Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3 (H3K4). Functions as a transcriptional regulator. Binds to the TERT promoter and represses telomerase expression. Plays a role in TGFB1-mediated inhibition of cell-proliferation, possibly regulating SMAD3 transcriptional activity. Represses JUND-mediated transcriptional activation on AP1 sites, as well as that mediated by NFKB subunit RELA. Positively regulates HOXC8 and HOXC6 gene expression. May be involved in normal hematopoiesis through the activation of HOXA9 expression (By similarity). May be involved in DNA repair.", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255#function" }, { "database": "PubMed", "id": "11274402", "url": "https://glygen.org/publication/PubMed/11274402" }, { "database": "PubMed", "id": "11526476", "url": "https://glygen.org/publication/PubMed/11526476" }, { "database": "PubMed", "id": "12874027", "url": "https://glygen.org/publication/PubMed/12874027" }, { "database": "PubMed", "id": "14992727", "url": "https://glygen.org/publication/PubMed/14992727" }, { "database": "PubMed", "id": "22327296", "url": "https://glygen.org/publication/PubMed/22327296" }, { "database": "PubMed", "id": "12837246", "url": "https://glygen.org/publication/PubMed/12837246" }, { "database": "UniProtKB", "id": "O88559", "url": "https://www.uniprot.org/uniprot/O88559#function" } ] }, { "annotation": "Evaluating the role of MEN1 gene expression and its clinical significance in breast cancer patients. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000235" }, { "database": "PubMed", "id": "37437063", "url": "https://glygen.org/publication/PubMed/37437063" } ] }, { "annotation": "MEN1 is a regulator of alternative splicing and prevents R-loop-induced genome instability through suppression of RNA polymerase II elongation.", "evidence": [ { "database": "RefSeq", "id": "NP_000235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000235" }, { "database": "PubMed", "id": "37395406", "url": "https://glygen.org/publication/PubMed/37395406" } ] }, { "annotation": "Multiple endocrine neoplasia type 1 with Zollinger-Ellison syndrome: clinicopathological analysis of a Japanese family with focus on menin immunohistochemistry. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000235" }, { "database": "PubMed", "id": "37867522", "url": "https://glygen.org/publication/PubMed/37867522" } ] }, { "annotation": "This gene encodes menin, a tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. Menin is a scaffold protein that functions in histone modification and epigenetic gene regulation. It is thought to regulate several pathways and processes by altering chromatin structure through the modification of histones. [provided by RefSeq, May 2019].", "evidence": [ { "database": "RefSeq", "id": "NP_000235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000235" } ] } ], "disease": [ { "disease_id": "DOID:10017", "recommended_name": { "id": "DOID:10017", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10017", "name": "multiple endocrine neoplasia type 1", "description": "A multiple endocrine neoplasia that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas." }, "synonyms": [ { "id": "DOID:10017", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10017", "name": "MEN type I", "description": "" }, { "id": "DOID:10017", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10017", "name": "Wermer syndrome", "description": "" }, { "id": "DOID:10017", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10017", "name": "Wermer's syndrome", "description": "" }, { "id": "MONDO:0007540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007540", "name": "multiple endocrine neoplasia type 1", "description": "Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients." }, { "id": "MONDO:0007540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007540", "name": "multiple endocrine adenomatosis", "description": "" }, { "id": "MONDO:0007540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007540", "name": "MEA type 1", "description": "" }, { "id": "MONDO:0007540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007540", "name": "MEA type I", "description": "" }, { "id": "MONDO:0007540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007540", "name": "MEN1", "description": "" }, { "id": "MONDO:0007540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007540", "name": "MEN1 multiple endocrine neoplasia", "description": "" }, { "id": "MONDO:0007540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007540", "name": "MEN1 syndrome", "description": "" }, { "id": "MONDO:0007540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007540", "name": "Wermer syndrome", "description": "" }, { "id": "MONDO:0007540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007540", "name": "Wermer's syndrome", "description": "" }, { "id": "MONDO:0007540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007540", "name": "men 1", "description": "" }, { "id": "MONDO:0007540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007540", "name": "men type 1", "description": "" }, { "id": "MONDO:0007540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007540", "name": "men type I", "description": "" }, { "id": "MONDO:0007540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007540", "name": "multiple endocrine adenomatosis type 1", "description": "" }, { "id": "MONDO:0007540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007540", "name": "multiple endocrine adenomatosis type I", "description": "" }, { "id": "MONDO:0007540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007540", "name": "multiple endocrine adenomatosis, type I", "description": "" }, { "id": "MONDO:0007540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007540", "name": "multiple endocrine neoplasia 1", "description": "" }, { "id": "MONDO:0007540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007540", "name": "multiple endocrine neoplasia caused by mutation in MEN1", "description": "" }, { "id": "MONDO:0007540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007540", "name": "multiple endocrine neoplasia type 1", "description": "" }, { "id": "MONDO:0007540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007540", "name": "multiple endocrine neoplasia type 1 syndrome", "description": "" }, { "id": "MONDO:0007540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007540", "name": "multiple endocrine neoplasia type I", "description": "" }, { "id": "MONDO:0007540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007540", "name": "multiple endocrine neoplasia, type I", "description": "" }, { "id": "MONDO:0007540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007540", "name": "MEA 1", "description": "" }, { "id": "MONDO:0007540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007540", "name": "MEN1 somatic mutations", "description": "" }, { "id": "MONDO:0007540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007540", "name": "endocrine adenomatosis multiple", "description": "" }, { "id": "MONDO:0007540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007540", "name": "endocrine adenomatosis, multiple", "description": "" }, { "id": "MONDO:0007540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007540", "name": "multiple endocrine neoplasia, type 1", "description": "" }, { "id": "MIM:131100", "resource": "MIM", "url": "https://www.omim.org/entry/131100", "name": "Familial multiple endocrine neoplasia type I", "description": "Familial multiple endocrine neoplasia type I" } ], "evidence": [ { "id": "131100", "database": "MIM", "url": "https://www.omim.org/entry/131100" } ] } ], "snv": [ { "evidence": [ { "id": "O00255", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00255" } ], "glycoeffect": [], "start_pos": 332, "end_pos": 332, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "64806286", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R332", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ] }, { "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" ] } ], "mutagenesis": [ { "start_pos": 182, "end_pos": 182, "sequence_org": "A", "sequence_mut": "F", "comment": "Reduced interaction with KMT2A.", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" }, { "database": "PubMed", "id": "22327296", "url": "https://glygen.org/publication/PubMed/22327296" } ] }, { "start_pos": 278, "end_pos": 278, "sequence_org": "M", "sequence_mut": "W", "comment": "Loss of interaction with KMT2A and JUND.", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" }, { "database": "PubMed", "id": "22327296", "url": "https://glygen.org/publication/PubMed/22327296" } ] }, { "start_pos": 285, "end_pos": 285, "sequence_org": "D", "sequence_mut": "R", "comment": "Reduced interaction with KMT2A; when associated with R-288 and R-290.", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" }, { "database": "PubMed", "id": "22327296", "url": "https://glygen.org/publication/PubMed/22327296" } ] }, { "start_pos": 288, "end_pos": 288, "sequence_org": "E", "sequence_mut": "R", "comment": "Reduced interaction with KMT2A; when associated with R-285 and R-290.", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" }, { "database": "PubMed", "id": "22327296", "url": "https://glygen.org/publication/PubMed/22327296" } ] }, { "start_pos": 290, "end_pos": 290, "sequence_org": "E", "sequence_mut": "R", "comment": "Reduced interaction with KMT2A; when associated with R-285 and R-288.", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" }, { "database": "PubMed", "id": "22327296", "url": "https://glygen.org/publication/PubMed/22327296" } ] }, { "start_pos": 319, "end_pos": 319, "sequence_org": "Y", "sequence_mut": "A", "comment": "Reduced interaction with KMT2A.", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" }, { "database": "PubMed", "id": "22327296", "url": "https://glygen.org/publication/PubMed/22327296" } ] }, { "start_pos": 323, "end_pos": 323, "sequence_org": "Y", "sequence_mut": "A", "comment": "Reduced interaction with KMT2A.", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" }, { "database": "PubMed", "id": "22327296", "url": "https://glygen.org/publication/PubMed/22327296" } ] }, { "start_pos": 366, "end_pos": 366, "sequence_org": "E", "sequence_mut": "A", "comment": "Reduced interaction with KMT2A; when associated with A-370.", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" }, { "database": "PubMed", "id": "22327296", "url": "https://glygen.org/publication/PubMed/22327296" } ] }, { "start_pos": 370, "end_pos": 370, "sequence_org": "D", "sequence_mut": "A", "comment": "Reduced interaction with KMT2A; when associated with A-366.", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" }, { "database": "PubMed", "id": "22327296", "url": "https://glygen.org/publication/PubMed/22327296" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "84.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000133895", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133895" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "74.62", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000133895", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133895" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "80.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000133895", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133895" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "81.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000133895", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133895" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "88.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000133895", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133895" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "82.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000133895", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133895" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "74.1", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000133895", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133895" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "83.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000133895", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133895" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "90.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000133895", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133895" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "73.86", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000133895", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133895" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "82.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000133895", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133895" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "90.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000133895", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133895" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "87.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000133895", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133895" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00255", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00255" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00255", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00255" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O00255", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00255" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O00255", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00255" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O00255", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00255" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O00255", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00255" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00255", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00255" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O00255", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00255" } ], "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": "O00255", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00255" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O00255", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00255" } ], "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": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O00255", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00255" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O00255", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00255" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "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": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "common_name": "Human" } ], "gene": [ { "name": "MEN1", "url": "https://www.uniprot.org/uniprot/O00255", "locus": { "chromosome": "11", "start_pos": 64803510, "end_pos": 64811294, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000133895", "url": "https://www.ensembl.org/id/ENSG00000133895" } ] } } ], "crossref": [ { "id": "ENSG00000133895", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133895", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O00255", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00255", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd14456", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd14456", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL1615381", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL1615381", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "MEN1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEN1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "4221", "url": "https://www.ncbi.nlm.nih.gov/gene/4221", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "7010", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7010", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O00255", "url": "https://www.ebi.ac.uk/intact/interactors/id:O00255*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR007747", "url": "https://www.ebi.ac.uk/interpro/entry/IPR007747", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "131100", "url": "http://www.omim.org/entry/131100", "database": "MIM", "categories": [ "Other" ] }, { "id": "613733", "url": "http://www.omim.org/entry/613733", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O00255", "url": "https://www.nextprot.org/entry/NX_O00255", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "2903812at2759", "url": "http://www.orthodb.org/?query=2903812at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12693", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12693", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12693:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12693:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "3U84", "url": "https://www.rcsb.org/structure/3U84", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3U85", "url": "https://www.rcsb.org/structure/3U85", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3U86", "url": "https://www.rcsb.org/structure/3U86", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3U88", "url": "https://www.rcsb.org/structure/3U88", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4GPQ", "url": "https://www.rcsb.org/structure/4GPQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4GQ3", "url": "https://www.rcsb.org/structure/4GQ3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4GQ4", "url": "https://www.rcsb.org/structure/4GQ4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4GQ6", "url": "https://www.rcsb.org/structure/4GQ6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4I80", "url": "https://www.rcsb.org/structure/4I80", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4OG3", "url": "https://www.rcsb.org/structure/4OG3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4OG4", "url": "https://www.rcsb.org/structure/4OG4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4OG5", "url": "https://www.rcsb.org/structure/4OG5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4OG6", "url": "https://www.rcsb.org/structure/4OG6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4OG7", "url": "https://www.rcsb.org/structure/4OG7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4OG8", "url": "https://www.rcsb.org/structure/4OG8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4X5Y", "url": "https://www.rcsb.org/structure/4X5Y", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4X5Z", "url": "https://www.rcsb.org/structure/4X5Z", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5DB0", "url": "https://www.rcsb.org/structure/5DB0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5DB1", "url": "https://www.rcsb.org/structure/5DB1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5DB2", "url": "https://www.rcsb.org/structure/5DB2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5DB3", "url": "https://www.rcsb.org/structure/5DB3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5DD9", "url": "https://www.rcsb.org/structure/5DD9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5DDA", "url": "https://www.rcsb.org/structure/5DDA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5DDB", "url": "https://www.rcsb.org/structure/5DDB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5DDC", "url": "https://www.rcsb.org/structure/5DDC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5DDD", "url": "https://www.rcsb.org/structure/5DDD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5DDE", "url": "https://www.rcsb.org/structure/5DDE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5DDF", "url": "https://www.rcsb.org/structure/5DDF", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6B41", "url": "https://www.rcsb.org/structure/6B41", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6BXH", "url": "https://www.rcsb.org/structure/6BXH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6BXY", "url": "https://www.rcsb.org/structure/6BXY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6BY8", "url": "https://www.rcsb.org/structure/6BY8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6E1A", "url": "https://www.rcsb.org/structure/6E1A", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6O5I", "url": "https://www.rcsb.org/structure/6O5I", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6OPJ", "url": "https://www.rcsb.org/structure/6OPJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6PKC", "url": "https://www.rcsb.org/structure/6PKC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6S2K", "url": "https://www.rcsb.org/structure/6S2K", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6WNH", "url": "https://www.rcsb.org/structure/6WNH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7M4T", "url": "https://www.rcsb.org/structure/7M4T", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7O9T", "url": "https://www.rcsb.org/structure/7O9T", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7O9X", "url": "https://www.rcsb.org/structure/7O9X", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7O9Z", "url": "https://www.rcsb.org/structure/7O9Z", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7OA9", "url": "https://www.rcsb.org/structure/7OA9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7UJ4", "url": "https://www.rcsb.org/structure/7UJ4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8E90", "url": "https://www.rcsb.org/structure/8E90", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8GPN", "url": "https://www.rcsb.org/structure/8GPN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8IG0", "url": "https://www.rcsb.org/structure/8IG0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF05053", "url": "http://pfam.xfam.org/family/PF05053", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O00255", "url": "https://pharos.nih.gov/targets/O00255", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O00255", "url": "http://purl.obolibrary.org/obo/PR_O00255", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5626467", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5626467", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8957275", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8957275", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000235", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00255-1", "url": "https://www.uniprot.org/uniprot/O00255-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00255-2", "url": "https://www.uniprot.org/uniprot/O00255-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00255-3", "url": "https://www.uniprot.org/uniprot/O00255-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGLKAAQKTLFPLRSIDDVVRLFAAELGREEPDLVLLSLVLGFVEHFLAVNRVIPTNVPELTFQPSPAPDPPGGLTYFPVADLSIIAALYARFTAQIRGAVDLSLYPREGGVSSRELVKKVSDVIWNSLSRSYFKDRAHIQSLFSFITGTKLDSSGVAFAVVGACQALGLRDVHLALSEDHAWVVFGPNGEQTAEVTWHGKGNEDRRGQTVNAGVAERSWLYLKGSYMRCDRKMEVAFMVCAINPSIDLHTDSLELLQLQQKLLWLLYDLGHLERYPMALGNLADLEELEPTPGRPDPLTLYHKGIASAKTYYRDEHIYPYMYLAGYHCRNRNVREALQAWADTATVIQDYNYCREDEEIYKEFFEVANDVIPNLLKEAASLLEAGEERPGEQSQGTQSQGSALQDPECFAHLLRFYDGICKWEEGSPTPVLHVGWATFLVQSLGRFEGQVRQKVRIVSREAEAAEAEEPWGEEAREGRRRGPRRESKPEEPPPPKKPALDKGLGTGQGAVSGPPRKPPGTVAGTARGPEGGSTAQVPAPTASPPPEGPVLTFQSEKMKGMKELLVATKINSSAIKLQLTAQSQVQMKKQKVSTPSDYTLSFLKRQRKGL", "length": 610, "header": "sp|O00255-2|MEN1_HUMAN Isoform 2 of Menin OS=Homo sapiens OX=9606 GN=MEN1 PE=1 SV=5 CANONICAL=O00255-2" }, "isoforms": [ { "isoform_ac": "O00255-1", "url": "", "sequence": { "sequence": "MGLKAAQKTLFPLRSIDDVVRLFAAELGREEPDLVLLSLVLGFVEHFLAVNRVIPTNVPELTFQPSPAPDPPGGLTYFPVADLSIIAALYARFTAQIRGAVDLSLYPREGGVSSRELVKKVSDVIWNSLSRSYFKDRAHIQSLFSFITGWSPVGTKLDSSGVAFAVVGACQALGLRDVHLALSEDHAWVVFGPNGEQTAEVTWHGKGNEDRRGQTVNAGVAERSWLYLKGSYMRCDRKMEVAFMVCAINPSIDLHTDSLELLQLQQKLLWLLYDLGHLERYPMALGNLADLEELEPTPGRPDPLTLYHKGIASAKTYYRDEHIYPYMYLAGYHCRNRNVREALQAWADTATVIQDYNYCREDEEIYKEFFEVANDVIPNLLKEAASLLEAGEERPGEQSQGTQSQGSALQDPECFAHLLRFYDGICKWEEGSPTPVLHVGWATFLVQSLGRFEGQVRQKVRIVSREAEAAEAEEPWGEEAREGRRRGPRRESKPEEPPPPKKPALDKGLGTGQGAVSGPPRKPPGTVAGTARGPEGGSTAQVPAPTASPPPEGPVLTFQSEKMKGMKELLVATKINSSAIKLQLTAQSQVQMKKQKVSTPSDYTLSFLKRQRKGL", "length": 615, "header": "sp|O00255-1|MEN1_HUMAN Isoform 1 of Menin OS=Homo sapiens OX=9606 GN=MEN1 PE=1 SV=5 CANONICAL=O00255-2" }, "locus": { "chromosome": "11", "start_pos": 64810109, "end_pos": 64804337, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000377313.7", "url": "https://www.ensembl.org/id/ENST00000377313.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000366530.1", "url": "https://www.ensembl.org/id/ENSP00000366530.1" } ] } }, { "isoform_ac": "O00255-2", "url": "", "sequence": { "sequence": "MGLKAAQKTLFPLRSIDDVVRLFAAELGREEPDLVLLSLVLGFVEHFLAVNRVIPTNVPELTFQPSPAPDPPGGLTYFPVADLSIIAALYARFTAQIRGAVDLSLYPREGGVSSRELVKKVSDVIWNSLSRSYFKDRAHIQSLFSFITGTKLDSSGVAFAVVGACQALGLRDVHLALSEDHAWVVFGPNGEQTAEVTWHGKGNEDRRGQTVNAGVAERSWLYLKGSYMRCDRKMEVAFMVCAINPSIDLHTDSLELLQLQQKLLWLLYDLGHLERYPMALGNLADLEELEPTPGRPDPLTLYHKGIASAKTYYRDEHIYPYMYLAGYHCRNRNVREALQAWADTATVIQDYNYCREDEEIYKEFFEVANDVIPNLLKEAASLLEAGEERPGEQSQGTQSQGSALQDPECFAHLLRFYDGICKWEEGSPTPVLHVGWATFLVQSLGRFEGQVRQKVRIVSREAEAAEAEEPWGEEAREGRRRGPRRESKPEEPPPPKKPALDKGLGTGQGAVSGPPRKPPGTVAGTARGPEGGSTAQVPAPTASPPPEGPVLTFQSEKMKGMKELLVATKINSSAIKLQLTAQSQVQMKKQKVSTPSDYTLSFLKRQRKGL", "length": 610, "header": "sp|O00255-2|MEN1_HUMAN Isoform 2 of Menin OS=Homo sapiens OX=9606 GN=MEN1 PE=1 SV=5 CANONICAL=O00255-2" }, "locus": { "chromosome": "11", "start_pos": 64810109, "end_pos": 64804337, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000312049.11", "url": "https://www.ensembl.org/id/ENST00000312049.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000308975.6", "url": "https://www.ensembl.org/id/ENSP00000308975.6" } ] } }, { "isoform_ac": "O00255-3", "url": "", "sequence": { "sequence": "MGLKAAQKTLFPLRSIDDVVRLFAAELGREEPDLVLLSLVLGFVEHFLAVNRVIPTNVPELTFQPSPAPDPPGGLTYFPVADLSIIAALYARFTAQIRGAVDLSLYPREGGVSSRELVKKVSDVIWNSLSRSYFKDRAHIQSLFSFIGTKLDSSGVAFAVVGACQALGLRDVHLALSEDHAWSWLYLKGSYMRCDRKMEVAFMVCAINPSIDLHTDSLELLQLQQKLLWLLYDLGHLERYPMALGNLADLEELEPTPGRPDPLTLYHKGIASAKTYYRDEHIYPYMYLAGYHCRNRNVREALQAWADTATVIQDYNYCREDEEIYKEFFEVANDVIPNLLKEAASLLEAGEERPGEQSQGTQSQGSALQDPECFAHLLRFYDGICKWEEGSPTPVLHVGWATFLVQSLGRFEGQVRQKVRIVSREAEAAEAEEPWGEEAREGRRRGPRRESKPEEPPPPKKPALDKGLGTGQGAVSGPPRKPPGTVAGTARGPEGGSTAQVPAPTASPPPEGPVLTFQSEKMKGMKELLVATKINSSAIKLQLTAQSQVQMKKQKVSTPSDYTLSFLKRQRKGL", "length": 574, "header": "sp|O00255-3|MEN1_HUMAN Isoform 3 of Menin OS=Homo sapiens OX=9606 GN=MEN1 PE=1 SV=5 CANONICAL=O00255-2" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 122, "end_pos": 122, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00255", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00255" }, { "database": "PubMed", "id": "30792230", "url": "https://glygen.org/publication/PubMed/30792230" } ], "site_lbl": "Ser122" }, { "start_pos": 394, "end_pos": 394, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00255", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00255" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" }, { "database": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ], "site_lbl": "Ser394" }, { "start_pos": 399, "end_pos": 399, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "O00255", "url": "http://phospho.elm.eu.org/byAccession/O00255.html" }, { "database": "iPTMnet", "id": "O00255", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00255" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ], "site_lbl": "Ser399" }, { "start_pos": 487, "end_pos": 487, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O00255", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00255" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser487" }, { "start_pos": 543, "end_pos": 543, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O00255", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00255" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Ser543" }, { "start_pos": 593, "end_pos": 593, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00255", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00255" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser593" }, { "start_pos": 594, "end_pos": 594, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O00255", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00255" } ], "site_lbl": "Thr594" }, { "start_pos": 599, "end_pos": 599, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "O00255", "url": "http://phospho.elm.eu.org/byAccession/O00255.html" }, { "database": "iPTMnet", "id": "O00255", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00255" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Thr599" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Genotyping of adrenocortical tumors: very frequent deletions of the MEN1 locus in 11q13 and of a 1-centimorgan region in 2p16.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1999-02", "authors": "Kjellman M, Roshani L, Teh B T, Kallioniemi O P, H\u00f6\u00f6g A, Gray S, Farnebo L O, Holst M, B\u00e4ckdahl M, Larsson C", "evidence": [ { "database": "Entrez", "id": "4221", "url": "https://www.ncbi.nlm.nih.gov/gene/4221" } ], "reference": [ { "type": "PubMed", "id": "10022445", "url": "https://glygen.org/publication/PubMed/10022445" } ] }, { "title": "Smad3-Smad4 and AP-1 complexes synergize in transcriptional activation of the c-Jun promoter by transforming growth factor beta.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Wong C, Rougier-Chapman EM, Frederick JP, Datto MB, Liberati NT, Li JM, Wang XF", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "10022869", "url": "https://glygen.org/publication/PubMed/10022869" } ] }, { "title": "N-Linked glycosylation and sialylation of the acid-labile subunit. Role in complex formation with insulin-like growth factor (IGF)-binding protein-3 and the IGFs.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Janosi JB, Firth SM, Bond JJ, Baxter RC, Delhanty PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10026136", "url": "https://glygen.org/publication/PubMed/10026136" } ] }, { "title": "The insulin-like growth factor (IGF)-dependent IGF binding protein-4 protease secreted by human fibroblasts is pregnancy-associated plasma protein-A.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Lawrence JB, Oxvig C, Overgaard MT, Sottrup-Jensen L, Gleich GJ, Hays LG, Yates JR 3rd, Conover CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10077652", "url": "https://glygen.org/publication/PubMed/10077652" } ] }, { "title": "Identification of Tcf4 residues involved in high-affinity beta-catenin binding.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Omer CA, Miller PJ, Diehl RE, Kral AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "10080941", "url": "https://glygen.org/publication/PubMed/10080941" } ] }, { "title": "Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects.", "journal": "Human mutation", "date": "1999", "authors": "Mutch MG, Dilley WG, Sanjurjo F, DeBenedetti MK, Doherty GM, Wells SA Jr, Goodfellow PJ, Lairmore TC", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "10090472", "url": "https://glygen.org/publication/PubMed/10090472" } ] }, { "title": "A Smad transcriptional corepressor.", "journal": "Cell", "date": "1999", "authors": "Wotton D, Lo RS, Lee S, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "10199400", "url": "https://glygen.org/publication/PubMed/10199400" } ] }, { "title": "The cleavage site specificity of human prostate specific antigen for insulin-like growth factor binding protein-3.", "journal": "FEBS letters", "date": "1999", "authors": "Okabe E, Kajihara J, Usami Y, Hirano K", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10218588", "url": "https://glygen.org/publication/PubMed/10218588" } ] }, { "title": "A new mutation of the MEN1 gene in an italian kindred with multiple endocrine neoplasia type 1.", "journal": "European journal of endocrinology", "date": "1999", "authors": "Cetani F, Pardi E, Cianferotti L, Vignali E, Picone A, Miccoli P, Pinchera A, Marcocci C", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "10229909", "url": "https://glygen.org/publication/PubMed/10229909" } ] }, { "title": "Cdc42 and Rac1 regulate the interaction of IQGAP1 with beta-catenin.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Fukata M, Kuroda S, Nakagawa M, Kawajiri A, Itoh N, Shoji I, Matsuura Y, Yonehara S, Fujisawa H, Kikuchi A, Kaibuchi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5626467", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5626467" } ], "reference": [ { "type": "PubMed", "id": "10473551", "url": "https://glygen.org/publication/PubMed/10473551" } ] }, { "title": "A functional interaction between the histone deacetylase Rpd3 and the corepressor groucho in Drosophila development.", "journal": "Genes & development", "date": "1999", "authors": "Chen G, Fernandez J, Mische S, Courey AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "10485845", "url": "https://glygen.org/publication/PubMed/10485845" } ] }, { "title": "Inflammation-related neutrophil proteases, cathepsin G and elastase, function as insulin-like growth factor binding protein proteases.", "journal": "Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society", "date": "1999", "authors": "Gibson TL, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10512690", "url": "https://glygen.org/publication/PubMed/10512690" } ] }, { "title": "Germline mutations in the MEN1 gene: creation of a new splice acceptor site and insertion of 7 intron nucleotides into the mRNA.", "journal": "International journal of molecular medicine", "date": "1999", "authors": "Engelbach M, Forst T, Hankeln T, Tratzky M, Heerdt S, Pfutzner A, Kann P, Kunt T, Schneider S, Schmidt ER, Beyer J", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "10534569", "url": "https://glygen.org/publication/PubMed/10534569" } ] }, { "title": "Regulation of Wnt signaling by Sox proteins: XSox17 alpha/beta and XSox3 physically interact with beta-catenin.", "journal": "Molecular cell", "date": "1999", "authors": "Zorn AM, Barish GD, Williams BO, Lavender P, Klymkowsky MW, Varmus HE", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "10549281", "url": "https://glygen.org/publication/PubMed/10549281" } ] }, { "title": "Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1 (MEN1).", "journal": "European journal of endocrinology", "date": "1999", "authors": "Hai N, Aoki N, Matsuda A, Mori T, Kosugi S", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "10576763", "url": "https://glygen.org/publication/PubMed/10576763" } ] }, { "title": "A central domain binding site in insulin-like growth factor binding protein-5 for the acid-labile subunit.", "journal": "Endocrinology", "date": "2000", "authors": "Twigg SM, Kiefer MC, Zapf J, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10614670", "url": "https://glygen.org/publication/PubMed/10614670" } ] }, { "title": "Molecular pathology of multiple endocrine neoplasia type I: two novel germline mutations and updated classification of mutations affecting MEN1 gene.", "journal": "Diagnostic molecular pathology : the American journal of surgical pathology, part B", "date": "1999", "authors": "Martin-Campos JM, Catasus L, Chico A, Mayoral C, Lagarda E, Gallart L, Mato E, Rodriguez-Espinosa J, Matias-Guiu X, De Leiva A, Blanco-Vaca F", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "10617276", "url": "https://glygen.org/publication/PubMed/10617276" } ] }, { "title": "Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a large Danish pedigree.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2000", "authors": "Kassem M, Kruse TA, Wong FK, Larsson C, Teh BT", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "10634381", "url": "https://glygen.org/publication/PubMed/10634381" } ] }, { "title": "MEN I gene mutations in sporadic adrenal adenomas.", "journal": "Human genetics", "date": "1999", "authors": "Schulte KM, Heinze M, Mengel M, Simon D, Scheuring S, Kohrer K, Roher HD", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "10647896", "url": "https://glygen.org/publication/PubMed/10647896" } ] }, { "title": "Five novel mutations in the familial multiple endocrine neoplasia type 1 (MEN1) gene. Mutations in brief no. 188. Online.", "journal": "Human mutation", "date": "1998", "authors": "Cote GJ, Lee JE, Evans DB, Huang E, Schultz PN, Dang GT, Qiu H, Shetelbine S, Sellin RV, Gagel RF", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "10660339", "url": "https://glygen.org/publication/PubMed/10660339" } ] }, { "title": "MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1.", "journal": "European journal of endocrinology", "date": "2000", "authors": "Morelli A, Falchetti A, Martineti V, Becherini L, Mark M, Friedman E, Brandi ML", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "10664520", "url": "https://glygen.org/publication/PubMed/10664520" } ] }, { "title": "A novel mutation of the MEN1 gene in a Japanese kindred with familial isolated primary hyperparathyroidism.", "journal": "European journal of endocrinology", "date": "2000", "authors": "Honda M, Tsukada T, Tanaka H, Maruyama K, Yamaguchi K, Obara T, Yamaji T, Ishibashi M", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "10664521", "url": "https://glygen.org/publication/PubMed/10664521" } ] }, { "title": "Insulin-like growth factor binding protein (IGFBP)-3-bound IGF-I and IGFBP-3-bound IGF-II in growth hormone deficiency.", "journal": "Hormone research", "date": "1999", "authors": "Belgorosky A, Rivarola MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10681634", "url": "https://glygen.org/publication/PubMed/10681634" } ] }, { "title": "Somatic mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in patients with sporadic, nonfamilial primary hyperparathyroidism.", "journal": "Surgery", "date": "2000", "authors": "Sato K, Yamazaki K, Zhu H, Kanbe M, Iihara M, Wada Y, Tanaka R, Okamoto T, Ito Y, Obara T", "evidence": [ { "database": "Entrez", "id": "4221", "url": "https://www.ncbi.nlm.nih.gov/gene/4221" } ], "reference": [ { "type": "PubMed", "id": "10715991", "url": "https://glygen.org/publication/PubMed/10715991" } ] }, { "title": "The transcriptional coactivator CBP interacts with beta-catenin to activate gene expression.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Takemaru KI, Moon RT", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "10769018", "url": "https://glygen.org/publication/PubMed/10769018" } ] }, { "title": "The p300/CBP acetyltransferases function as transcriptional coactivators of beta-catenin in vertebrates.", "journal": "The EMBO journal", "date": "2000", "authors": "Hecht A, Vleminckx K, Stemmler MP, van Roy F, Kemler R", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "10775268", "url": "https://glygen.org/publication/PubMed/10775268" } ] }, { "title": "Binding characteristics of pro-insulin-like growth factor-II from cancer patients: binary and ternary complex formation with IGF binding proteins-1 to -6.", "journal": "The Journal of endocrinology", "date": "2000", "authors": "Bond JJ, Meka S, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10810289", "url": "https://glygen.org/publication/PubMed/10810289" } ] }, { "title": "Groucho/TLE family proteins and transcriptional repression.", "journal": "Gene", "date": "2000", "authors": "Chen G, Courey AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "10831834", "url": "https://glygen.org/publication/PubMed/10831834" } ] }, { "title": "Criteria for mutation analysis in MEN 1-suspected patients: MEN 1 case-finding.", "journal": "European journal of clinical investigation", "date": "2000", "authors": "Roijers JF, de Wit MJ, van der Luijt RB, Ploos van Amstel HK, Hoppener JW, Lips CJ", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "10849016", "url": "https://glygen.org/publication/PubMed/10849016" } ] }, { "title": "Frequency of somatic MEN1 gene mutations in monoclonal parathyroid tumours of patients with primary hyperparathyroidism.", "journal": "European journal of endocrinology", "date": "2000", "authors": "Miedlich S, Krohn K, Lamesch P, Muller A, Paschke R", "evidence": [ { "database": "Entrez", "id": "4221", "url": "https://www.ncbi.nlm.nih.gov/gene/4221" } ], "reference": [ { "type": "PubMed", "id": "10870030", "url": "https://glygen.org/publication/PubMed/10870030" } ] }, { "title": "Inhibition of Wnt signaling by ICAT, a novel beta-catenin-interacting protein.", "journal": "Genes & development", "date": "2000", "authors": "Tago K, Nakamura T, Nishita M, Hyodo J, Nagai S, Murata Y, Adachi S, Ohwada S, Morishita Y, Shibuya H, Akiyama T", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "10898789", "url": "https://glygen.org/publication/PubMed/10898789" } ] }, { "title": "Evidence that the interaction between insulin-like growth factor (IGF)-II and IGF binding protein (IGFBP)-4 is essential for the action of the IGF-II-dependent IGFBP-4 protease.", "journal": "Archives of biochemistry and biophysics", "date": "2000", "authors": "Qin X, Byun D, Lau KH, Baylink DJ, Mohan S", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10898936", "url": "https://glygen.org/publication/PubMed/10898936" } ] }, { "title": "Effects of IGFBP-2 overexpression in vitro and in vivo.", "journal": "Pediatric nephrology (Berlin, Germany)", "date": "2000", "authors": "Wolf E, Lahm H, Wu M, Wanke R, Hoeflich A", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10912521", "url": "https://glygen.org/publication/PubMed/10912521" } ] }, { "title": "A novel beta-catenin-binding protein inhibits beta-catenin-dependent Tcf activation and axis formation.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Sakamoto I, Kishida S, Fukui A, Kishida M, Yamamoto H, Hino S, Michiue T, Takada S, Asashima M, Kikuchi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "10921920", "url": "https://glygen.org/publication/PubMed/10921920" } ] }, { "title": "Inhibition of Wnt signaling pathway by a novel axin-binding protein.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Kadoya T, Kishida S, Fukui A, Hinoi T, Michiue T, Asashima M, Kikuchi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "10944533", "url": "https://glygen.org/publication/PubMed/10944533" } ] }, { "title": "O-glycosylation of insulin-like growth factor (IGF) binding protein-6 maintains high IGF-II binding affinity by decreasing binding to glycosaminoglycans and susceptibility to proteolysis.", "journal": "European journal of biochemistry", "date": "2000", "authors": "Marinaro JA, Neumann GM, Russo VC, Leeding KS, Bach LA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10951195", "url": "https://glygen.org/publication/PubMed/10951195" } ] }, { "title": "Prostate carcinoma (PC-3) cell proliferation is stimulated by the 22-25-kDa proteolytic fragment (1-160) and inhibited by the 16-kDa fragment (1-95) of recombinant human insulin-like growth factor binding protein-3.", "journal": "Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society", "date": "1998", "authors": "Angelloz-Nicoud P, Lalou C, Binoux M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10990447", "url": "https://glygen.org/publication/PubMed/10990447" } ] }, { "title": "Identification of MEN1 gene mutations in families with MEN 1 and related disorders.", "journal": "British journal of cancer", "date": "2000", "authors": "Bergman L, Teh B, Cardinal J, Palmer J, Walters M, Shepherd J, Cameron D, Hayward N", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "10993647", "url": "https://glygen.org/publication/PubMed/10993647" } ] }, { "title": "Synergistic cooperation between Sp1 and Smad3/Smad4 mediates transforming growth factor beta1 stimulation of alpha 2(I)-collagen (COL1A2) transcription.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Zhang W, Ou J, Inagaki Y, Greenwel P, Ramirez F", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "11007770", "url": "https://glygen.org/publication/PubMed/11007770" } ] }, { "title": "Smad2, Smad3 and Smad4 cooperate with Sp1 to induce p15(Ink4B) transcription in response to TGF-beta.", "journal": "The EMBO journal", "date": "2000", "authors": "Feng XH, Lin X, Derynck R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "11013220", "url": "https://glygen.org/publication/PubMed/11013220" } ] }, { "title": "Screening of the Men1 gene and discovery of germ-line and somatic mutations in apparently sporadic parathyroid tumors.", "journal": "Cancer research", "date": "2000", "authors": "Uchino S, Noguchi S, Sato M, Yamashita H, Yamashita H, Watanabe S, Murakami T, Toda M, Ohshima A, Futata T, Mizukoshi T, Koike E, Takatsu K, Terao K, Wakiya S, Nagatomo M, Adachi M", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "11034102", "url": "https://glygen.org/publication/PubMed/11034102" } ] }, { "title": "Regulation of beta -catenin transformation by the p300 transcriptional coactivator.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Sun Y, Kolligs FT, Hottiger MO, Mosavin R, Fearon ER, Nabel GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "11050151", "url": "https://glygen.org/publication/PubMed/11050151" } ] }, { "title": "Pontin52 and reptin52 function as antagonistic regulators of beta-catenin signalling activity.", "journal": "The EMBO journal", "date": "2000", "authors": "Bauer A, Chauvet S, Huber O, Usseglio F, Rothbacher U, Aragnol D, Kemler R, Pradel J", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "11080158", "url": "https://glygen.org/publication/PubMed/11080158" } ] }, { "title": "A novel mutation E179K of the MEN1 gene predisposes for multiple endocrine neoplasia-type 1 (MEN1).", "journal": "Human mutation", "date": "2000", "authors": "Weinhaeusel A, Vierhapper H, Schlegl R, Wagner T, Muhr D, Scheuba C, Niederle B, Haas OA", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "11102994", "url": "https://glygen.org/publication/PubMed/11102994" } ] }, { "title": "Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2000", "authors": "Stratakis CA, Schussheim DH, Freedman SM, Keil MF, Pack SD, Agarwal SK, Skarulis MC, Weil RJ, Lubensky IA, Zhuang Z, Oldfield EH, Marx SJ", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "11134142", "url": "https://glygen.org/publication/PubMed/11134142" } ] }, { "title": "Crystal structure of a beta-catenin/Tcf complex.", "journal": "Cell", "date": "2000", "authors": "Graham TA, Weaver C, Mao F, Kimelman D, Xu W", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "11136974", "url": "https://glygen.org/publication/PubMed/11136974" } ] }, { "title": "Pregnancy-associated plasma protein-A accounts for the insulin-like growth factor (IGF)-binding protein-4 (IGFBP-4) proteolytic activity in human pregnancy serum and enhances the mitogenic activity of IGF by degrading IGFBP-4 in vitro.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2001", "authors": "Byun D, Mohan S, Yoo M, Sexton C, Baylink DJ, Qin X", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11158056", "url": "https://glygen.org/publication/PubMed/11158056" } ] }, { "title": "Identification of three novel menin mutations (c.741delGTCA, c.1348T>C, c.1785delA) in unrelated Italian families affected with multiple endocrine neoplasia type 1: Additional information for mutational screening.", "journal": "Human mutation", "date": "2001", "authors": "Asteria C, Faglia G, Roncoroni R, Borretta G, Ribotto P, Beck-Peccoz P", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "11241849", "url": "https://glygen.org/publication/PubMed/11241849" } ] }, { "title": "Ligand-binding characteristics of recombinant amino- and carboxyl-terminal fragments of human insulin-like growth factor-binding protein-3.", "journal": "The Journal of endocrinology", "date": "2001", "authors": "Galanis M, Firth SM, Bond J, Nathanielsz A, Kortt AA, Hudson PJ, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11250653", "url": "https://glygen.org/publication/PubMed/11250653" } ] }, { "title": "Pregnancy-associated plasma protein-A2 (PAPP-A2), a novel insulin-like growth factor-binding protein-5 proteinase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Overgaard MT, Boldt HB, Laursen LS, Sottrup-Jensen L, Conover CA, Oxvig C", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11264294", "url": "https://glygen.org/publication/PubMed/11264294" } ] }, { "title": "Inactivation of menin, a Smad3-interacting protein, blocks transforming growth factor type beta signaling.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Kaji H, Canaff L, Lebrun JJ, Goltzman D, Hendy GN", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" }, { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "11274402", "url": "https://glygen.org/publication/PubMed/11274402" } ] }, { "title": "Mutagenesis of basic amino acids in the carboxyl-terminal region of insulin-like growth factor binding protein-5 affects acid-labile subunit binding.", "journal": "Endocrinology", "date": "2001", "authors": "Firth SM, Clemmons DR, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11316783", "url": "https://glygen.org/publication/PubMed/11316783" } ] }, { "title": "Involvement of Smads in TGFbeta1-induced furin (fur) transcription.", "journal": "Journal of cellular physiology", "date": "2001", "authors": "Blanchette F, Rudd P, Grondin F, Attisano L, Dubois CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "11424093", "url": "https://glygen.org/publication/PubMed/11424093" } ] }, { "title": "TGIF2 interacts with histone deacetylase 1 and represses transcription.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Melhuish TA, Gallo CM, Wotton D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "11427533", "url": "https://glygen.org/publication/PubMed/11427533" } ] }, { "title": "Pregnancy-associated plasma protein-A (PAPP-A) cleaves insulin-like growth factor binding protein (IGFBP)-5 independent of IGF: implications for the mechanism of IGFBP-4 proteolysis by PAPP-A.", "journal": "FEBS letters", "date": "2001", "authors": "Laursen LS, Overgaard MT, Soe R, Boldt HB, Sottrup-Jensen L, Giudice LC, Conover CA, Oxvig C", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11522292", "url": "https://glygen.org/publication/PubMed/11522292" } ] }, { "title": "The tumor suppressor protein menin interacts with NF-kappaB proteins and inhibits NF-kappaB-mediated transactivation.", "journal": "Oncogene", "date": "2001-08-16", "authors": "Heppner C, Bilimoria K Y, Agarwal S K, Kester M, Whitty L J, Guru S C, Chandrasekharappa S C, Collins F S, Spiegel A M, Marx S J, Burns A L", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "11526476", "url": "https://glygen.org/publication/PubMed/11526476" } ] }, { "title": "The chromatin remodelling factor Brg-1 interacts with beta-catenin to promote target gene activation.", "journal": "The EMBO journal", "date": "2001", "authors": "Barker N, Hurlstone A, Musisi H, Miles A, Bienz M, Clevers H", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "11532957", "url": "https://glygen.org/publication/PubMed/11532957" } ] }, { "title": "Insulin-like growth factor-binding protein-5 inhibits growth and induces differentiation of mouse osteosarcoma cells.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Schneider MR, Zhou R, Hoeflich A, Krebs O, Schmidt J, Mohan S, Wolf E, Lahm H", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11606061", "url": "https://glygen.org/publication/PubMed/11606061" } ] }, { "title": "SOX7 transcription factor: sequence, chromosomal localisation, expression, transactivation and interference with Wnt signalling.", "journal": "Nucleic acids research", "date": "2001", "authors": "Takash W, Canizares J, Bonneaud N, Poulat F, Mattei MG, Jay P, Berta P", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "11691915", "url": "https://glygen.org/publication/PubMed/11691915" } ] }, { "title": "Structure of a human Tcf4-beta-catenin complex.", "journal": "Nature structural biology", "date": "2001", "authors": "Poy F, Lepourcelet M, Shivdasani RA, Eck MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "11713476", "url": "https://glygen.org/publication/PubMed/11713476" } ] }, { "title": "IGFBP-3 binding to endothelial cells inhibits plasmin and thrombin proteolysis.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2002", "authors": "Booth BA, Boes M, Dake BL, Knudtson KL, Bar RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11739083", "url": "https://glygen.org/publication/PubMed/11739083" } ] }, { "title": "Insulin-like growth factor-binding protein 2 in tumorigenesis: protector or promoter?", "journal": "Cancer research", "date": "2001", "authors": "Hoeflich A, Reisinger R, Lahm H, Kiess W, Blum WF, Kolb HJ, Weber MM, Wolf E", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11751371", "url": "https://glygen.org/publication/PubMed/11751371" } ] }, { "title": "Molecular distribution of IGF binding protein-5 in human serum.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2002", "authors": "Baxter RC, Meka S, Firth SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11788658", "url": "https://glygen.org/publication/PubMed/11788658" } ] }, { "title": "TCF: Lady Justice casting the final verdict on the outcome of Wnt signalling.", "journal": "Biological chemistry", "date": "2002", "authors": "Brantjes H, Barker N, van Es J, Clevers H", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "11934263", "url": "https://glygen.org/publication/PubMed/11934263" } ] }, { "title": "IQGAP1 is a component of Cdc42 signaling to the cytoskeleton.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Swart-Mataraza JM, Li Z, Sacks DB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5626467", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5626467" } ], "reference": [ { "type": "PubMed", "id": "11948177", "url": "https://glygen.org/publication/PubMed/11948177" } ] }, { "title": "Wnt/wingless signaling requires BCL9/legless-mediated recruitment of pygopus to the nuclear beta-catenin-TCF complex.", "journal": "Cell", "date": "2002", "authors": "Kramps T, Peter O, Brunner E, Nellen D, Froesch B, Chatterjee S, Murone M, Zullig S, Basler K", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "11955446", "url": "https://glygen.org/publication/PubMed/11955446" } ] }, { "title": "Acetylation of beta-catenin by CREB-binding protein (CBP).", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Wolf D, Rodova M, Miska EA, Calvet JP, Kouzarides T", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "11973335", "url": "https://glygen.org/publication/PubMed/11973335" } ] }, { "title": "A new nuclear component of the Wnt signalling pathway.", "journal": "Nature cell biology", "date": "2002", "authors": "Thompson B, Townsley F, Rosin-Arbesfeld R, Musisi H, Bienz M", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "11988739", "url": "https://glygen.org/publication/PubMed/11988739" } ] }, { "title": "Genetic screening for MEN1 mutations in families presenting with familial primary hyperparathyroidism.", "journal": "World journal of surgery", "date": "2002", "authors": "Perrier ND, Villablanca A, Larsson C, Wong M, Ituarte P, Teh BT, Clark OH", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "12016470", "url": "https://glygen.org/publication/PubMed/12016470" } ] }, { "title": "Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2002", "authors": "Turner JJ, Leotlela PD, Pannett AA, Forbes SA, Bassett JH, Harding B, Christie PT, Bowen-Jones D, Ellard S, Hattersley A, Jackson CE, Pope R, Quarrell OW, Trembath R, Thakker RV", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "12050235", "url": "https://glygen.org/publication/PubMed/12050235" } ] }, { "title": "Rac1 and Cdc42 capture microtubules through IQGAP1 and CLIP-170.", "journal": "Cell", "date": "2002", "authors": "Fukata M, Watanabe T, Noritake J, Nakagawa M, Yamaga M, Kuroda S, Matsuura Y, Iwamatsu A, Perez F, Kaibuchi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5626467", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5626467" } ], "reference": [ { "type": "PubMed", "id": "12110184", "url": "https://glygen.org/publication/PubMed/12110184" } ] }, { "title": "Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.", "journal": "Human mutation", "date": "2002", "authors": "Wautot V, Vercherat C, Lespinasse J, Chambe B, Lenoir GM, Zhang CX, Porchet N, Cordier M, Beroud C, Calender A", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "12112656", "url": "https://glygen.org/publication/PubMed/12112656" } ] }, { "title": "E2F4/5 and p107 as Smad cofactors linking the TGFbeta receptor to c-myc repression.", "journal": "Cell", "date": "2002", "authors": "Chen CR, Kang Y, Siegel PM, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "12150994", "url": "https://glygen.org/publication/PubMed/12150994" } ] }, { "title": "pygopus Encodes a nuclear protein essential for wingless/Wnt signaling.", "journal": "Development (Cambridge, England)", "date": "2002", "authors": "Belenkaya TY, Han C, Standley HJ, Lin X, Houston DW, Heasman J, Lin X", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "12163411", "url": "https://glygen.org/publication/PubMed/12163411" } ] }, { "title": "Substrate specificity of the metalloproteinase pregnancy-associated plasma protein-A (PAPP-A) assessed by mutagenesis and analysis of synthetic peptides: substrate residues distant from the scissile bond are critical for proteolysis.", "journal": "The Biochemical journal", "date": "2002", "authors": "Laursen LS, Overgaard MT, Nielsen CG, Boldt HB, Hopmann KH, Conover CA, Sottrup-Jensen L, Giudice LC, Oxvig C", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "12241545", "url": "https://glygen.org/publication/PubMed/12241545" } ] }, { "title": "IGF-binding proteins are multifunctional and act via IGF-dependent and -independent mechanisms.", "journal": "The Journal of endocrinology", "date": "2002", "authors": "Mohan S, Baylink DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "12379487", "url": "https://glygen.org/publication/PubMed/12379487" } ] }, { "title": "Leukemia proto-oncoprotein MLL is proteolytically processed into 2 fragments with opposite transcriptional properties.", "journal": "Blood", "date": "2002-11-15", "authors": "Yokoyama Akihiko, Kitabayashi Issay, Ayton Paul M, Cleary Michael L, Ohki Misao", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "12393701", "url": "https://glygen.org/publication/PubMed/12393701" } ] }, { "title": "The crystal structure of the beta-catenin/ICAT complex reveals the inhibitory mechanism of ICAT.", "journal": "Molecular cell", "date": "2002", "authors": "Graham TA, Clements WK, Kimelman D, Xu W", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "12408824", "url": "https://glygen.org/publication/PubMed/12408824" } ] }, { "title": "ICAT inhibits beta-catenin binding to Tcf/Lef-family transcription factors and the general coactivator p300 using independent structural modules.", "journal": "Molecular cell", "date": "2002", "authors": "Daniels DL, Weis WI", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "12408825", "url": "https://glygen.org/publication/PubMed/12408825" } ] }, { "title": "A novel six-nucleotide insertion in exon 4 of the MEN1 gene, 878insCTGCAG, in three patients with familial insulinoma and primary hyperparathyroidism.", "journal": "Japanese journal of clinical oncology", "date": "2002", "authors": "Okamoto H, Tamada A, Hai N, Doi M, Uchimura I, Hirata Y, Kosugi S", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "12417605", "url": "https://glygen.org/publication/PubMed/12417605" } ] }, { "title": "Y-box-binding protein YB-1 mediates transcriptional repression of human alpha 2(I) collagen gene expression by interferon-gamma.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Higashi K, Inagaki Y, Suzuki N, Mitsui S, Mauviel A, Kaneko H, Nakatsuka I", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "12446674", "url": "https://glygen.org/publication/PubMed/12446674" } ] }, { "title": "Cellular actions of the insulin-like growth factor binding proteins.", "journal": "Endocrine reviews", "date": "2002", "authors": "Firth SM, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "12466191", "url": "https://glygen.org/publication/PubMed/12466191" } ] }, { "title": "Proteolytic cleavage of MLL generates a complex of N- and C-terminal fragments that confers protein stability and subnuclear localization.", "journal": "Molecular and cellular biology", "date": "2003", "authors": "Hsieh JJ, Ernst P, Erdjument-Bromage H, Tempst P, Korsmeyer SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "12482972", "url": "https://glygen.org/publication/PubMed/12482972" } ] }, { "title": "Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis.", "journal": "Electrophoresis", "date": "2003", "authors": "Crepin M, Escande F, Pigny P, Buisine MP, Calender A, Porchet N, Odou MF", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "12652570", "url": "https://glygen.org/publication/PubMed/12652570" } ] }, { "title": "Human Sin3 deacetylase and trithorax-related Set1/Ash2 histone H3-K4 methyltransferase are tethered together selectively by the cell-proliferation factor HCF-1.", "journal": "Genes & development", "date": "2003", "authors": "Wysocka J, Myers MP, Laherty CD, Eisenman RN, Herr W", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "12670868", "url": "https://glygen.org/publication/PubMed/12670868" } ] }, { "title": "Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism.", "journal": "Clinical endocrinology", "date": "2003", "authors": "Pannett AA, Kennedy AM, Turner JJ, Forbes SA, Cavaco BM, Bassett JH, Cianferotti L, Harding B, Shine B, Flinter F, Maidment CG, Trembath R, Thakker RV", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "12699448", "url": "https://glygen.org/publication/PubMed/12699448" } ] }, { "title": "Chibby, a nuclear beta-catenin-associated antagonist of the Wnt/Wingless pathway.", "journal": "Nature", "date": "2003", "authors": "Takemaru K, Yamaguchi S, Lee YS, Zhang Y, Carthew RW, Moon RT", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "12712206", "url": "https://glygen.org/publication/PubMed/12712206" } ] }, { "title": "Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients.", "journal": "Journal of medical genetics", "date": "2003", "authors": "Cebrian A, Ruiz-Llorente S, Cascon A, Pollan M, Diez JJ, Pico A, Telleria D, Benitez J, Robledo M", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "12746426", "url": "https://glygen.org/publication/PubMed/12746426" } ] }, { "title": "Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders.", "journal": "Clinical genetics", "date": "2003", "authors": "Park JH, Kim IJ, Kang HC, Lee SH, Shin Y, Kim KH, Lim SB, Kang SB, Lee K, Kim SY, Lee MS, Lee MK, Park JH, Moon SD, Park JG", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "12791038", "url": "https://glygen.org/publication/PubMed/12791038" } ] }, { "title": "Amino- and carboxyl-terminal fragments of insulin-like growth factor (IGF) binding protein-3 cooperate to bind IGFs with high affinity and inhibit IGF receptor interactions.", "journal": "Endocrinology", "date": "2003", "authors": "Payet LD, Wang XH, Baxter RC, Firth SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "12810533", "url": "https://glygen.org/publication/PubMed/12810533" } ] }, { "title": "Multiple tumor suppressor pathways negatively regulate telomerase.", "journal": "Cell", "date": "2003", "authors": "Lin SY, Elledge SJ", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "12837246", "url": "https://glygen.org/publication/PubMed/12837246" } ] }, { "title": "Menin associates with FANCD2, a protein involved in repair of DNA damage.", "journal": "Cancer research", "date": "2003", "authors": "Jin S, Mao H, Schnepp RW, Sykes SM, Silva AC, D'Andrea AD, Hua X", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "12874027", "url": "https://glygen.org/publication/PubMed/12874027" } ] }, { "title": "IGF-binding protein-4: biochemical characteristics and functional consequences.", "journal": "The Journal of endocrinology", "date": "2003", "authors": "Zhou R, Diehl D, Hoeflich A, Lahm H, Wolf E", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "12904166", "url": "https://glygen.org/publication/PubMed/12904166" } ] }, { "title": "Interferon-gamma interferes with transforming growth factor-beta signaling through direct interaction of YB-1 with Smad3.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Higashi K, Inagaki Y, Fujimori K, Nakao A, Kaneko H, Nakatsuka I", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "12917425", "url": "https://glygen.org/publication/PubMed/12917425" } ] }, { "title": "Structural determinants for binary and ternary complex formation between insulin-like growth factor-I (IGF-I) and IGF binding protein-3.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Baxter RC, Bayne ML, Cascieri MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "1370451", "url": "https://glygen.org/publication/PubMed/1370451" } ] }, { "title": "Prostate-specific antigen (PSA) is an insulin-like growth factor binding protein-3 protease found in seminal plasma.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1992", "authors": "Cohen P, Graves HC, Peehl DM, Kamarei M, Giudice LC, Rosenfeld RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "1383255", "url": "https://glygen.org/publication/PubMed/1383255" } ] }, { "title": "Crystal structure of a beta-catenin/axin complex suggests a mechanism for the beta-catenin destruction complex.", "journal": "Genes & development", "date": "2003", "authors": "Xing Y, Clements WK, Kimelman D, Xu W", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "14600025", "url": "https://glygen.org/publication/PubMed/14600025" } ] }, { "title": "Taspase1: a threonine aspartase required for cleavage of MLL and proper HOX gene expression.", "journal": "Cell", "date": "2003", "authors": "Hsieh JJ, Cheng EH, Korsmeyer SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "14636557", "url": "https://glygen.org/publication/PubMed/14636557" } ] }, { "title": "Arkadia amplifies TGF-beta superfamily signalling through degradation of Smad7.", "journal": "The EMBO journal", "date": "2003", "authors": "Koinuma D, Shinozaki M, Komuro A, Goto K, Saitoh M, Hanyu A, Ebina M, Nukiwa T, Miyazawa K, Imamura T, Miyazono K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "14657019", "url": "https://glygen.org/publication/PubMed/14657019" } ] }, { "title": "A novel role for XIAP in copper homeostasis through regulation of MURR1.", "journal": "The EMBO journal", "date": "2004", "authors": "Burstein E, Ganesh L, Dick RD, van De Sluis B, Wilkinson JC, Klomp LW, Wijmenga C, Brewer GJ, Nabel GJ, Duckett CS", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "14685266", "url": "https://glygen.org/publication/PubMed/14685266" } ] }, { "title": "A novel missense mutation of the MEN1 gene in a multiple endocrine neoplasia type 1 patient associated with carcinoid syndrome.", "journal": "Internal medicine (Tokyo, Japan)", "date": "2003", "authors": "Ukita C, Yamaguchi M, Tanaka T, Shigeta H, Nishikawa M", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "14686752", "url": "https://glygen.org/publication/PubMed/14686752" } ] }, { "title": "TIP49 regulates beta-catenin-mediated neoplastic transformation and T-cell factor target gene induction via effects on chromatin remodeling.", "journal": "Cancer research", "date": "2003", "authors": "Feng Y, Lee N, Fearon ER", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "14695187", "url": "https://glygen.org/publication/PubMed/14695187" } ] }, { "title": "Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus.", "journal": "Molecular cell", "date": "2004", "authors": "Hughes CM, Rozenblatt-Rosen O, Milne TA, Copeland TD, Levine SS, Lee JC, Hayes DN, Shanmugam KS, Bhattacharjee A, Biondi CA, Kay GF, Hayward NK, Hess JL, Meyerson M", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" }, { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "14992727", "url": "https://glygen.org/publication/PubMed/14992727" } ] }, { "title": "Acetylation of beta-catenin by p300 regulates beta-catenin-Tcf4 interaction.", "journal": "Molecular and cellular biology", "date": "2004", "authors": "Levy L, Wei Y, Labalette C, Wu Y, Renard CA, Buendia MA, Neuveut C", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "15060161", "url": "https://glygen.org/publication/PubMed/15060161" } ] }, { "title": "Sorting of furin in polarized epithelial and endothelial cells: expression beyond the Golgi apparatus.", "journal": "The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society", "date": "2004", "authors": "Mayer G, Boileau G, Bendayan M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "15100235", "url": "https://glygen.org/publication/PubMed/15100235" } ] }, { "title": "Groucho oligomerization is required for repression in vivo.", "journal": "Molecular and cellular biology", "date": "2004", "authors": "Song H, Hasson P, Paroush Z, Courey AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "15121853", "url": "https://glygen.org/publication/PubMed/15121853" } ] }, { "title": "The role of the acid-labile subunit in regulating insulin-like growth factor transport across human umbilical vein endothelial cell monolayers.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2004", "authors": "Payet LD, Firth SM, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "15126567", "url": "https://glygen.org/publication/PubMed/15126567" } ] }, { "title": "Interactions between Sox9 and beta-catenin control chondrocyte differentiation.", "journal": "Genes & development", "date": "2004", "authors": "Akiyama H, Lyons JP, Mori-Akiyama Y, Yang X, Zhang R, Zhang Z, Deng JM, Taketo MM, Nakamura T, Behringer RR, McCrea PD, de Crombrugghe B", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "15132997", "url": "https://glygen.org/publication/PubMed/15132997" } ] }, { "title": "Menin is required for bone morphogenetic protein 2- and transforming growth factor beta-regulated osteoblastic differentiation through interaction with Smads and Runx2.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Sowa H, Kaji H, Hendy GN, Canaff L, Komori T, Sugimoto T, Chihara K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "15150273", "url": "https://glygen.org/publication/PubMed/15150273" } ] }, { "title": "Leukemia proto-oncoprotein MLL forms a SET1-like histone methyltransferase complex with menin to regulate Hox gene expression.", "journal": "Mol. Cell. Biol.", "date": "2004", "authors": "Yokoyama A, Wang Z, Wysocka J, Sanyal M, Aufiero DJ, Kitabayashi I, Herr W, Cleary ML", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" }, { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "15199122", "url": "https://glygen.org/publication/PubMed/15199122" } ] }, { "title": "Unusual presentation of multiple endocrine neoplasia type 1 in a young woman with a novel mutation of the MEN1 gene.", "journal": "J. Hum. Genet.", "date": "2004", "authors": "Balogh Katalin, Pat\u00f3cs Attila, Majnik Judit, Varga Fatima, Illy\u00e9s Gy\u00f6rgy, Hunyady L\u00e1szl\u00f3, R\u00e1cz K\u00e1roly", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "15205994", "url": "https://glygen.org/publication/PubMed/15205994" } ] }, { "title": "Identification and in vivo role of the Armadillo-Legless interaction.", "journal": "Development (Cambridge, England)", "date": "2004", "authors": "Hoffmans R, Basler K", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "15294866", "url": "https://glygen.org/publication/PubMed/15294866" } ] }, { "title": "C-terminal domain of insulin-like growth factor (IGF) binding protein-6: structure and interaction with IGF-II.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2004", "authors": "Headey SJ, Keizer DW, Yao S, Brasier G, Kantharidis P, Bach LA, Norton RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "15308688", "url": "https://glygen.org/publication/PubMed/15308688" } ] }, { "title": "Crystal structure of a beta-catenin/APC complex reveals a critical role for APC phosphorylation in APC function.", "journal": "Molecular cell", "date": "2004", "authors": "Xing Y, Clements WK, Le Trong I, Hinds TR, Stenkamp R, Kimelman D, Xu W", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "15327769", "url": "https://glygen.org/publication/PubMed/15327769" } ] }, { "title": "Functional interaction between tumor suppressor menin and activator of S-phase kinase.", "journal": "Cancer Res.", "date": "2004", "authors": "Schnepp Robert W, Hou Zhaoyuan, Wang Haoren, Petersen Clark, Silva Albert, Masai Hisao, Hua Xianxin", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "15374998", "url": "https://glygen.org/publication/PubMed/15374998" } ] }, { "title": "Characterization of insulin-like growth factor-free interaction between insulin-like growth factor binding protein 3 and acid labile subunit expressed from Xenopus oocytes.", "journal": "Journal of biochemistry and molecular biology", "date": "2004", "authors": "Choi KY, Kyung YJ, Lee CY, Lee DH", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "15469690", "url": "https://glygen.org/publication/PubMed/15469690" } ] }, { "title": "Role of N- and C-terminal residues of insulin-like growth factor (IGF)-binding protein-3 in regulating IGF complex formation and receptor activation.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Yan X, Forbes BE, McNeil KA, Baxter RC, Firth SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "15485880", "url": "https://glygen.org/publication/PubMed/15485880" } ] }, { "title": "The APC tumor suppressor binds to C-terminal binding protein to divert nuclear beta-catenin from TCF.", "journal": "Developmental cell", "date": "2004", "authors": "Hamada F, Bienz M", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "15525529", "url": "https://glygen.org/publication/PubMed/15525529" } ] }, { "title": "Contributions of the N- and C-terminal domains of IGF binding protein-6 to IGF binding.", "journal": "Journal of molecular endocrinology", "date": "2004", "authors": "Headey SJ, Leeding KS, Norton RS, Bach LA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "15525596", "url": "https://glygen.org/publication/PubMed/15525596" } ] }, { "title": "Structural basis for the regulation of insulin-like growth factors by IGF binding proteins.", "journal": "Structure (London, England : 1993)", "date": "2005", "authors": "Siwanowicz I, Popowicz GM, Wisniewska M, Huber R, Kuenkele KP, Lang K, Engh RA, Holak TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "15642270", "url": "https://glygen.org/publication/PubMed/15642270" } ] }, { "title": "Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory.", "journal": "Genetics in medicine : official journal of the American College of Medical Genetics", "date": "2005", "authors": "Klein RD, Salih S, Bessoni J, Bale AE", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "15714081", "url": "https://glygen.org/publication/PubMed/15714081" } ] }, { "title": "Novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1.", "journal": "Clinical endocrinology", "date": "2005", "authors": "Jap TS, Chiu CY, Won JG, Wu YC, Chen HS", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "15730416", "url": "https://glygen.org/publication/PubMed/15730416" } ] }, { "title": "Novel somatic MEN1 gene alterations in sporadic primary hyperparathyroidism and correlation with clinical characteristics.", "journal": "Journal of endocrinological investigation", "date": "2004", "authors": "Scarpelli D, D'Aloiso L, Arturi F, Scillitani A, Presta I, Bisceglia M, Cristofaro C, Russo D, Filetti S", "evidence": [ { "database": "Entrez", "id": "4221", "url": "https://www.ncbi.nlm.nih.gov/gene/4221" } ], "reference": [ { "type": "PubMed", "id": "15754732", "url": "https://glygen.org/publication/PubMed/15754732" } ] }, { "title": "Beta-catenin directly displaces Groucho/TLE repressors from Tcf/Lef in Wnt-mediated transcription activation.", "journal": "Nature structural & molecular biology", "date": "2005", "authors": "Daniels DL, Weis WI", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "15768032", "url": "https://glygen.org/publication/PubMed/15768032" } ] }, { "title": "Transcriptional regulation of a metastasis suppressor gene by Tip60 and beta-catenin complexes.", "journal": "Nature", "date": "2005", "authors": "Kim JH, Kim B, Cai L, Choi HJ, Ohgi KA, Tran C, Chen C, Chung CH, Huber O, Rose DW, Sawyers CL, Rosenfeld MG, Baek SH", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "15829968", "url": "https://glygen.org/publication/PubMed/15829968" } ] }, { "title": "Pygopus and legless provide essential transcriptional coactivator functions to armadillo/beta-catenin.", "journal": "Current biology : CB", "date": "2005", "authors": "Hoffmans R, Stadeli R, Basler K", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "16005293", "url": "https://glygen.org/publication/PubMed/16005293" } ] }, { "title": "Dissecting nuclear Wingless signalling: recruitment of the transcriptional co-activator Pygopus by a chain of adaptor proteins.", "journal": "Mechanisms of development", "date": "2005", "authors": "Stadeli R, Basler K", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "16169192", "url": "https://glygen.org/publication/PubMed/16169192" } ] }, { "title": "A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16.", "journal": "Molecular and cellular biology", "date": "2005", "authors": "Smith ER, Cayrou C, Huang R, Lane WS, Cote J, Lucchesi JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "16227571", "url": "https://glygen.org/publication/PubMed/16227571" } ] }, { "title": "The menin tumor suppressor protein is an essential oncogenic cofactor for MLL-associated leukemogenesis.", "journal": "Cell", "date": "2005-10-21", "authors": "Yokoyama Akihiko, Somervaille Tim C P, Smith Kevin S, Rozenblatt-Rosen Orit, Meyerson Matthew, Cleary Michael L", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "16239140", "url": "https://glygen.org/publication/PubMed/16239140" } ] }, { "title": "Y-box protein-1 is the crucial mediator of antifibrotic interferon-gamma effects.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Dooley S, Said HM, Gressner AM, Floege J, En-Nia A, Mertens PR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "16278212", "url": "https://glygen.org/publication/PubMed/16278212" } ] }, { "title": "Constitutively phosphorylated Smad3 interacts with Sp1 and p300 in scleroderma fibroblasts.", "journal": "Rheumatology (Oxford, England)", "date": "2006", "authors": "Ihn H, Yamane K, Asano Y, Jinnin M, Tamaki K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "16319104", "url": "https://glygen.org/publication/PubMed/16319104" } ] }, { "title": "The APC tumor suppressor counteracts beta-catenin activation and H3K4 methylation at Wnt target genes.", "journal": "Genes & development", "date": "2006", "authors": "Sierra J, Yoshida T, Joazeiro CA, Jones KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "16510874", "url": "https://glygen.org/publication/PubMed/16510874" } ] }, { "title": "Parafibromin/Hyrax activates Wnt/Wg target gene transcription by direct association with beta-catenin/Armadillo.", "journal": "Cell", "date": "2006", "authors": "Mosimann C, Hausmann G, Basler K", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "16630820", "url": "https://glygen.org/publication/PubMed/16630820" } ] }, { "title": "Chromatin modifications by methylation and ubiquitination: implications in the regulation of gene expression.", "journal": "Annual review of biochemistry", "date": "2006", "authors": "Shilatifard A", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "16756492", "url": "https://glygen.org/publication/PubMed/16756492" } ] }, { "title": "Histone H3 recognition and presentation by the WDR5 module of the MLL1 complex.", "journal": "Nature structural & molecular biology", "date": "2006-08", "authors": "Ruthenburg Alexander J, Wang Wooikoon, Graybosch Daina M, Li Haitao, Allis C David, Patel Dinshaw J, Verdine Gregory L", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "16829959", "url": "https://glygen.org/publication/PubMed/16829959" } ] }, { "title": "Regulation of MLL1 H3K4 methyltransferase activity by its core components.", "journal": "Nature structural & molecular biology", "date": "2006-08", "authors": "Dou Yali, Milne Thomas A, Ruthenburg Alexander J, Lee Seunghee, Lee Jae Woon, Verdine Gregory L, Allis C David, Roeder Robert G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "16878130", "url": "https://glygen.org/publication/PubMed/16878130" } ] }, { "title": "Molecular regulation of H3K4 trimethylation by ASH2L, a shared subunit of MLL complexes.", "journal": "Nature structural & molecular biology", "date": "2006-09", "authors": "Steward Melissa M, Lee Jung-Shin, O'Donovan Aisling, Wyatt Matt, Bernstein Bradley E, Shilatifard Ali", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "16892064", "url": "https://glygen.org/publication/PubMed/16892064" } ] }, { "title": "The role of insulin-like growth factor binding proteins.", "journal": "Neuroendocrinology", "date": "2006", "authors": "Holly J, Perks C", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "17047378", "url": "https://glygen.org/publication/PubMed/17047378" } ] }, { "title": "Crystal structure of a beta-catenin/BCL9/Tcf4 complex.", "journal": "Molecular cell", "date": "2006", "authors": "Sampietro J, Dahlberg CL, Cho US, Hinds TR, Kimelman D, Xu W", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "17052462", "url": "https://glygen.org/publication/PubMed/17052462" } ] }, { "title": "Regulation of gammadelta versus alphabeta T lymphocyte differentiation by the transcription factor SOX13.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Melichar HJ, Narayan K, Der SD, Hiraoka Y, Gardiol N, Jeannet G, Held W, Chambers CA, Kang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "17218525", "url": "https://glygen.org/publication/PubMed/17218525" } ] }, { "title": "IQGAP3, a novel effector of Rac1 and Cdc42, regulates neurite outgrowth.", "journal": "Journal of cell science", "date": "2007", "authors": "Wang S, Watanabe T, Noritake J, Fukata M, Yoshimura T, Itoh N, Harada T, Nakagawa M, Matsuura Y, Arimura N, Kaibuchi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5626467", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5626467" } ], "reference": [ { "type": "PubMed", "id": "17244649", "url": "https://glygen.org/publication/PubMed/17244649" } ] }, { "title": "Quantitative analysis of insulin-like growth factor-modulated proteolysis of insulin-like growth factor binding protein-4 and -5 by pregnancy-associated plasma protein-A.", "journal": "Biochemistry", "date": "2007", "authors": "Gyrup C, Oxvig C", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "17249697", "url": "https://glygen.org/publication/PubMed/17249697" } ] }, { "title": "Regulation of insulin-like growth factor (IGF) bioactivity by sequential proteolytic cleavage of IGF binding protein-4 and -5.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2007", "authors": "Laursen LS, Kjaer-Sorensen K, Andersen MH, Oxvig C", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "17312271", "url": "https://glygen.org/publication/PubMed/17312271" } ] }, { "title": "Identification and characterization of the human Set1B histone H3-Lys4 methyltransferase complex.", "journal": "The Journal of biological chemistry", "date": "2007-05-04", "authors": "Lee Jeong-Heon, Tate Courtney M, You Jin-Sam, Skalnik David G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "17355966", "url": "https://glygen.org/publication/PubMed/17355966" } ] }, { "title": "SOX6 suppresses cyclin D1 promoter activity by interacting with beta-catenin and histone deacetylase 1, and its down-regulation induces pancreatic beta-cell proliferation.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Iguchi H, Urashima Y, Inagaki Y, Ikeda Y, Okamura M, Tanaka T, Uchida A, Yamamoto TT, Kodama T, Sakai J", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "17412698", "url": "https://glygen.org/publication/PubMed/17412698" } ] }, { "title": "Pygo1 and Pygo2 roles in Wnt signaling in mammalian kidney development.", "journal": "BMC biology", "date": "2007", "authors": "Schwab KR, Patterson LT, Hartman HA, Song N, Lang RA, Lin X, Potter SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "17425782", "url": "https://glygen.org/publication/PubMed/17425782" } ] }, { "title": "pygopus 2 has a crucial, Wnt pathway-independent function in lens induction.", "journal": "Development (Cambridge, England)", "date": "2007", "authors": "Song N, Schwab KR, Patterson LT, Yamaguchi T, Lin X, Potter SS, Lang RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "17428831", "url": "https://glygen.org/publication/PubMed/17428831" } ] }, { "title": "Smad7 antagonizes transforming growth factor beta signaling in the nucleus by interfering with functional Smad-DNA complex formation.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Zhang S, Fei T, Zhang L, Zhang R, Chen F, Ning Y, Han Y, Feng XH, Meng A, Chen YG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "17438144", "url": "https://glygen.org/publication/PubMed/17438144" } ] }, { "title": "Developmental phenotypes and reduced Wnt signaling in mice deficient for pygopus 2.", "journal": "Genesis (New York, N.Y. : 2000)", "date": "2007", "authors": "Li B, Rheaume C, Teng A, Bilanchone V, Munguia JE, Hu M, Jessen S, Piccolo S, Waterman ML, Dai X", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "17458864", "url": "https://glygen.org/publication/PubMed/17458864" } ] }, { "title": "PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex.", "journal": "J. Biol. Chem.", "date": "2007", "authors": "Cho YW, Hong T, Hong S, Guo H, Yu H, Kim D, Guszczynski T, Dressler GR, Copeland TD, Kalkum M, Ge K", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" }, { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "17500065", "url": "https://glygen.org/publication/PubMed/17500065" } ] }, { "title": "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.", "journal": "Science", "date": "2007", "authors": "Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" }, { "database": "iPTMnet", "id": "O00255-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00255-2" } ], "reference": [ { "type": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] }, { "title": "Novel MEN1 germline mutations in Brazilian families with multiple endocrine neoplasia type 1.", "journal": "Clinical endocrinology", "date": "2007", "authors": "Toledo RA, Lourenco DM Jr, Coutinho FL, Quedas E, Mackowiack I, Machado MC, Montenegro F, Cunha-Neto MB, Liberman B, Pereira MA, Correa PH, Toledo SP", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "17555499", "url": "https://glygen.org/publication/PubMed/17555499" } ] }, { "title": "Identification of MEN1 and HRPT2 somatic mutations in paraffin-embedded (sporadic) parathyroid carcinomas.", "journal": "Clinical endocrinology", "date": "2007", "authors": "Haven CJ, van Puijenbroek M, Tan MH, Teh BT, Fleuren GJ, van Wezel T, Morreau H", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "17555500", "url": "https://glygen.org/publication/PubMed/17555500" } ] }, { "title": "E2F activation of S phase promoters via association with HCF-1 and the MLL family of histone H3K4 methyltransferases.", "journal": "Molecular cell", "date": "2007-07-06", "authors": "Tyagi Shweta, Chabes Anna Lena, Wysocka Joanna, Herr Winship", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "17612494", "url": "https://glygen.org/publication/PubMed/17612494" } ] }, { "title": "Interaction of MLL amino terminal sequences with menin is required for transformation.", "journal": "Cancer research", "date": "2007-08-01", "authors": "Caslini Corrado, Yang Zhaohai, El-Osta Mohamad, Milne Thomas A, Slany Robert K, Hess Jay L", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "17671196", "url": "https://glygen.org/publication/PubMed/17671196" } ] }, { "title": "Sox9 regulates cell proliferation and is required for Paneth cell differentiation in the intestinal epithelium.", "journal": "The Journal of cell biology", "date": "2007", "authors": "Bastide P, Darido C, Pannequin J, Kist R, Robine S, Marty-Double C, Bibeau F, Scherer G, Joubert D, Hollande F, Blache P, Jay P", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "17698607", "url": "https://glygen.org/publication/PubMed/17698607" } ] }, { "title": "Sox17 and Sox4 differentially regulate beta-catenin/T-cell factor activity and proliferation of colon carcinoma cells.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Sinner D, Kordich JJ, Spence JR, Opoka R, Rankin S, Lin SC, Jonatan D, Zorn AM, Wells JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "17875931", "url": "https://glygen.org/publication/PubMed/17875931" } ] }, { "title": "The BRCT-domain containing protein PTIP links PAX2 to a histone H3, lysine 4 methyltransferase complex.", "journal": "Developmental cell", "date": "2007-10", "authors": "Patel Sanjeevkumar R, Kim Doyeob, Levitan Inna, Dressler Gregory R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "17925232", "url": "https://glygen.org/publication/PubMed/17925232" } ] }, { "title": "Cooperativity of the N- and C-terminal domains of insulin-like growth factor (IGF) binding protein 2 in IGF binding.", "journal": "Biochemistry", "date": "2007", "authors": "Kuang Z, Yao S, McNeil KA, Thompson JA, Bach LA, Forbes BE, Wallace JC, Norton RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "17985932", "url": "https://glygen.org/publication/PubMed/17985932" } ] }, { "title": "Wdr82 is a C-terminal domain-binding protein that recruits the Setd1A Histone H3-Lys4 methyltransferase complex to transcription start sites of transcribed human genes.", "journal": "Molecular and cellular biology", "date": "2008", "authors": "Lee JH, Skalnik DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "17998332", "url": "https://glygen.org/publication/PubMed/17998332" } ] }, { "title": "Profiling of UV-induced ATM/ATR signaling pathways.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Stokes MP, Rush J, Macneill J, Ren JM, Sprott K, Nardone J, Yang V, Beausoleil SA, Gygi SP, Livingstone M, Zhang H, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "O00255-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00255-2" } ], "reference": [ { "type": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ] }, { "title": "Wingless signaling induces widespread chromatin remodeling of target loci.", "journal": "Molecular and cellular biology", "date": "2008", "authors": "Parker DS, Ni YY, Chang JL, Li J, Cadigan KM", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "18160704", "url": "https://glygen.org/publication/PubMed/18160704" } ] }, { "title": "Regulation of lamellipodia formation and cell invasion by CLIP-170 in invasive human breast cancer cells.", "journal": "Biochemical and biophysical research communications", "date": "2008", "authors": "Suzuki K, Takahashi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5626467", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5626467" } ], "reference": [ { "type": "PubMed", "id": "18237546", "url": "https://glygen.org/publication/PubMed/18237546" } ] }, { "title": "Cell-type-specific function of BCL9 involves a transcriptional activation domain that synergizes with beta-catenin.", "journal": "Molecular and cellular biology", "date": "2008", "authors": "Sustmann C, Flach H, Ebert H, Eastman Q, Grosschedl R", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "18347063", "url": "https://glygen.org/publication/PubMed/18347063" } ] }, { "title": "CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes.", "journal": "Molecular and cellular biology", "date": "2008", "authors": "Thompson BA, Tremblay V, Lin G, Bochar DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "18378692", "url": "https://glygen.org/publication/PubMed/18378692" } ] }, { "title": "Pygopus and the Wnt signaling pathway: a diverse set of connections.", "journal": "BioEssays : news and reviews in molecular, cellular and developmental biology", "date": "2008", "authors": "Jessen S, Gu B, Dai X", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "18404694", "url": "https://glygen.org/publication/PubMed/18404694" } ] }, { "title": "The molecular mechanism governing the oncogenic potential of SOX2 in breast cancer.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Chen Y, Shi L, Zhang L, Li R, Liang J, Yu W, Sun L, Yang X, Wang Y, Zhang Y, Shang Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "18456656", "url": "https://glygen.org/publication/PubMed/18456656" } ] }, { "title": "Decoding of methylated histone H3 tail by the Pygo-BCL9 Wnt signaling complex.", "journal": "Molecular cell", "date": "2008", "authors": "Fiedler M, Sanchez-Barrena MJ, Nekrasov M, Mieszczanek J, Rybin V, Muller J, Evans P, Bienz M", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "18498752", "url": "https://glygen.org/publication/PubMed/18498752" } ] }, { "title": "TAZ controls Smad nucleocytoplasmic shuttling and regulates human embryonic stem-cell self-renewal.", "journal": "Nature cell biology", "date": "2008", "authors": "Varelas X, Sakuma R, Samavarchi-Tehrani P, Peerani R, Rao BM, Dembowy J, Yaffe MB, Zandstra PW, Wrana JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "18568018", "url": "https://glygen.org/publication/PubMed/18568018" } ] }, { "title": "Chibby cooperates with 14-3-3 to regulate beta-catenin subcellular distribution and signaling activity.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Li FQ, Mofunanya A, Harris K, Takemaru K", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "18573912", "url": "https://glygen.org/publication/PubMed/18573912" } ] }, { "title": "Human SRY inhibits beta-catenin-mediated transcription.", "journal": "The international journal of biochemistry & cell biology", "date": "2008", "authors": "Bernard P, Sim H, Knower K, Vilain E, Harley V", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "18598779", "url": "https://glygen.org/publication/PubMed/18598779" } ] }, { "title": "Menin critically links MLL proteins with LEDGF on cancer-associated target genes.", "journal": "Cancer cell", "date": "2008-07-08", "authors": "Yokoyama Akihiko, Cleary Michael L", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "18598942", "url": "https://glygen.org/publication/PubMed/18598942" } ] }, { "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": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" }, { "database": "iPTMnet", "id": "O00255-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00255-2" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Sox7 Is an independent checkpoint for beta-catenin function in prostate and colon epithelial cells.", "journal": "Molecular cancer research : MCR", "date": "2008", "authors": "Guo L, Zhong D, Lau S, Liu X, Dong XY, Sun X, Yang VW, Vertino PM, Moreno CS, Varma V, Dong JT, Zhou W", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "18819930", "url": "https://glygen.org/publication/PubMed/18819930" } ] }, { "title": "A conserved arginine-containing motif crucial for the assembly and enzymatic activity of the mixed lineage leukemia protein-1 core complex.", "journal": "The Journal of biological chemistry", "date": "2008-11-21", "authors": "Patel Anamika, Vought Valarie E, Dharmarajan Venkatasubramanian, Cosgrove Michael S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "18829457", "url": "https://glygen.org/publication/PubMed/18829457" } ] }, { "title": "Structure of WDR5 bound to mixed lineage leukemia protein-1 peptide.", "journal": "The Journal of biological chemistry", "date": "2008-11-21", "authors": "Patel Anamika, Dharmarajan Venkatasubramanian, Cosgrove Michael S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "18829459", "url": "https://glygen.org/publication/PubMed/18829459" } ] }, { "title": "Human ATAC Is a GCN5/PCAF-containing acetylase complex with a novel NC2-like histone fold module that interacts with the TATA-binding protein.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Wang YL, Faiola F, Xu M, Pan S, Martinez E", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "18838386", "url": "https://glygen.org/publication/PubMed/18838386" } ] }, { "title": "Molecular regulation of H3K4 trimethylation by Wdr82, a component of human Set1/COMPASS.", "journal": "Molecular and cellular biology", "date": "2008-12", "authors": "Wu Min, Wang Peng Fei, Lee Jung Shin, Martin-Brown Skylar, Florens Laurence, Washburn Michael, Shilatifard Ali", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "18838538", "url": "https://glygen.org/publication/PubMed/18838538" } ] }, { "title": "Sox9 inhibits Wnt signaling by promoting beta-catenin phosphorylation in the nucleus.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Topol L, Chen W, Song H, Day TF, Yang Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "19047045", "url": "https://glygen.org/publication/PubMed/19047045" } ] }, { "title": "Menin interacts with IQGAP1 to enhance intercellular adhesion of beta-cells.", "journal": "Oncogene", "date": "2009", "authors": "Yan J, Yang Y, Zhang H, King C, Kan HM, Cai Y, Yuan CX, Bloom GS, Hua X", "evidence": [ { "database": "Reactome", "id": "R-HSA-5626467", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5626467" } ], "reference": [ { "type": "PubMed", "id": "19079338", "url": "https://glygen.org/publication/PubMed/19079338" } ] }, { "title": "The double-histone-acetyltransferase complex ATAC is essential for mammalian development.", "journal": "Molecular and cellular biology", "date": "2009", "authors": "Guelman S, Kozuka K, Mao Y, Pham V, Solloway MJ, Wang J, Wu J, Lill JR, Zha J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "19103755", "url": "https://glygen.org/publication/PubMed/19103755" } ] }, { "title": "Accumulation of Pax2 transactivation domain interaction protein (PTIP) at sites of DNA breaks via RNF8-dependent pathway is required for cell survival after DNA damage.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Gong Z, Cho YW, Kim JE, Ge K, Chen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "19124460", "url": "https://glygen.org/publication/PubMed/19124460" } ] }, { "title": "Loss of expression for the Wnt pathway components adenomatous polyposis coli and glycogen synthase kinase 3-beta in parathyroid carcinomas.", "journal": "International journal of oncology", "date": "2009", "authors": "Juhlin CC, Haglund F, Villablanca A, Forsberg L, Sandelin K, Branstrom R, Larsson C, Hoog A", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "19148484", "url": "https://glygen.org/publication/PubMed/19148484" } ] }, { "title": "Structural basis for the requirement of additional factors for MLL1 SET domain activity and recognition of epigenetic marks.", "journal": "Molecular cell", "date": "2009", "authors": "Southall SM, Wong PS, Odho Z, Roe SM, Wilson JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "19187761", "url": "https://glygen.org/publication/PubMed/19187761" } ] }, { "title": "Inactivation of Chibby affects function of motile airway cilia.", "journal": "The Journal of cell biology", "date": "2009", "authors": "Voronina VA, Takemaru K, Treuting P, Love D, Grubb BR, Hajjar AM, Adams A, Li FQ, Moon RT", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "19364920", "url": "https://glygen.org/publication/PubMed/19364920" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "O00255-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00255-2" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Groucho binds two conserved regions of LEF-1 for HDAC-dependent repression.", "journal": "BMC cancer", "date": "2009", "authors": "Arce L, Pate KT, Waterman ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "19460168", "url": "https://glygen.org/publication/PubMed/19460168" } ] }, { "title": "Pygo2 expands mammary progenitor cells by facilitating histone H3 K4 methylation.", "journal": "The Journal of cell biology", "date": "2009", "authors": "Gu B, Sun P, Yuan Y, Moraes RC, Li A, Teng A, Agrawal A, Rheaume C, Bilanchone V, Veltmaat JM, Takemaru K, Millar S, Lee EY, Lewis MT, Li B, Dai X", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "19487454", "url": "https://glygen.org/publication/PubMed/19487454" } ] }, { "title": "The PHD domain is required to link Drosophila Pygopus to Legless/beta-catenin and not to histone H3.", "journal": "Mechanisms of development", "date": "2009", "authors": "Kessler R, Hausmann G, Basler K", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "19493659", "url": "https://glygen.org/publication/PubMed/19493659" } ] }, { "title": "On the mechanism of multiple lysine methylation by the human mixed lineage leukemia protein-1 (MLL1) core complex.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Patel A, Dharmarajan V, Vought VE, Cosgrove MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "19556245", "url": "https://glygen.org/publication/PubMed/19556245" } ] }, { "title": "Telomerase modulates Wnt signalling by association with target gene chromatin.", "journal": "Nature", "date": "2009", "authors": "Park JI, Venteicher AS, Hong JY, Choi J, Jun S, Shkreli M, Chang W, Meng Z, Cheung P, Ji H, McLaughlin M, Veenstra TD, Nusse R, McCrea PD, Artandi SE", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "19571879", "url": "https://glygen.org/publication/PubMed/19571879" } ] }, { "title": "XIAP as a ubiquitin ligase in cellular signaling.", "journal": "Cell death and differentiation", "date": "2010", "authors": "Galban S, Duckett CS", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "19590513", "url": "https://glygen.org/publication/PubMed/19590513" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "O00255-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00255-2" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Rac1 activation inhibits E-cadherin-mediated adherens junctions via binding to IQGAP1 in pancreatic carcinoma cells.", "journal": "Cell communication and signaling : CCS", "date": "2009", "authors": "Hage B, Meinel K, Baum I, Giehl K, Menke A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5626467", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5626467" } ], "reference": [ { "type": "PubMed", "id": "19737400", "url": "https://glygen.org/publication/PubMed/19737400" } ] }, { "title": "Nuclear CDKs drive Smad transcriptional activation and turnover in BMP and TGF-beta pathways.", "journal": "Cell", "date": "2009", "authors": "Alarcon C, Zaromytidou AI, Xi Q, Gao S, Yu J, Fujisawa S, Barlas A, Miller AN, Manova-Todorova K, Macias MJ, Sapkota G, Pan D, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "19914168", "url": "https://glygen.org/publication/PubMed/19914168" } ] }, { "title": "Nuclear APC.", "journal": "Advances in experimental medicine and biology", "date": "2009", "authors": "Neufeld KL", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "19928349", "url": "https://glygen.org/publication/PubMed/19928349" } ] }, { "title": "Nuclear-cytoplasmic shuttling of Chibby controls beta-catenin signaling.", "journal": "Molecular biology of the cell", "date": "2010", "authors": "Li FQ, Mofunanya A, Fischer V, Hall J, Takemaru K", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "19940019", "url": "https://glygen.org/publication/PubMed/19940019" } ] }, { "title": "Subunit composition and substrate specificity of a MOF-containing histone acetyltransferase distinct from the male-specific lethal (MSL) complex.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Cai Y, Jin J, Swanson SK, Cole MD, Choi SH, Florens L, Washburn MP, Conaway JW, Conaway RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "20018852", "url": "https://glygen.org/publication/PubMed/20018852" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O00255-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00255-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Analysis of the binding of mixed lineage leukemia 1 (MLL1) and histone 3 peptides to WD repeat domain 5 (WDR5) for the design of inhibitors of the MLL1-WDR5 interaction.", "journal": "Journal of medicinal chemistry", "date": "2010-07-22", "authors": "Karatas Hacer, Townsend Elizabeth C, Bernard Denzil, Dou Yali, Wang Shaomeng", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "20575550", "url": "https://glygen.org/publication/PubMed/20575550" } ] }, { "title": "Smad2 protects against TGF-beta/Smad3-mediated renal fibrosis.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2010", "authors": "Meng XM, Huang XR, Chung AC, Qin W, Shao X, Igarashi P, Ju W, Bottinger EP, Lan HY", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "20595680", "url": "https://glygen.org/publication/PubMed/20595680" } ] }, { "title": "Characterization of a novel WDR5-binding site that recruits RbBP5 through a conserved motif to enhance methylation of histone H3 lysine 4 by mixed lineage leukemia protein-1.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Odho Z, Southall SM, Wilson JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "20716525", "url": "https://glygen.org/publication/PubMed/20716525" } ] }, { "title": "Molecular basis of the mixed lineage leukemia-menin interaction: implications for targeting mixed lineage leukemias.", "journal": "The Journal of biological chemistry", "date": "2010-12-24", "authors": "Grembecka Jolanta, Belcher Amalia M, Hartley Thomas, Cierpicki Tomasz", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "20961854", "url": "https://glygen.org/publication/PubMed/20961854" } ] }, { "title": "A novel non-SET domain multi-subunit methyltransferase required for sequential nucleosomal histone H3 methylation by the mixed lineage leukemia protein-1 (MLL1) core complex.", "journal": "The Journal of biological chemistry", "date": "2011-02-04", "authors": "Patel Anamika, Vought Valarie E, Dharmarajan Venkatasubramanian, Cosgrove Michael S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "21106533", "url": "https://glygen.org/publication/PubMed/21106533" } ] }, { "title": "An Ash2L/RbBP5 heterodimer stimulates the MLL1 methyltransferase activity through coordinated substrate interactions with the MLL1 SET domain.", "journal": "PloS one", "date": "2010-11-23", "authors": "Cao Fang, Chen Yong, Cierpicki Tomasz, Liu Yifan, Basrur Venkatesha, Lei Ming, Dou Yali", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "21124902", "url": "https://glygen.org/publication/PubMed/21124902" } ] }, { "title": "Distinct roles of GCN5/PCAF-mediated H3K9ac and CBP/p300-mediated H3K18/27ac in nuclear receptor transactivation.", "journal": "The EMBO journal", "date": "2011-01-19", "authors": "Jin Qihuang, Yu Li-Rong, Wang Lifeng, Zhang Zhijing, Kasper Lawryn H, Lee Ji-Eun, Wang Chaochen, Brindle Paul K, Dent Sharon Y R, Ge Kai", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "21131905", "url": "https://glygen.org/publication/PubMed/21131905" } ] }, { "title": "Fine-tuning the stimulation of MLL1 methyltransferase activity by a histone H3-based peptide mimetic.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2011-03", "authors": "Avdic Vanja, Zhang Pamela, Lanouette Sylvain, Voronova Anastassia, Skerjanc Ilona, Couture Jean-Francois", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "21135039", "url": "https://glygen.org/publication/PubMed/21135039" } ] }, { "title": "Structural and biochemical insights into MLL1 core complex assembly.", "journal": "Structure (London, England : 1993)", "date": "2011", "authors": "Avdic V, Zhang P, Lanouette S, Groulx A, Tremblay V, Brunzelle J, Couture JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "21220120", "url": "https://glygen.org/publication/PubMed/21220120" } ] }, { "title": "IQ-motif selectivity in human IQGAP2 and IQGAP3: binding of calmodulin and myosin essential light chain.", "journal": "Bioscience reports", "date": "2011", "authors": "Atcheson E, Hamilton E, Pathmanathan S, Greer B, Harriott P, Timson DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5626467", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5626467" } ], "reference": [ { "type": "PubMed", "id": "21299499", "url": "https://glygen.org/publication/PubMed/21299499" } ] }, { "title": "SWI/SNF nucleosome remodellers and cancer.", "journal": "Nature reviews. Cancer", "date": "2011", "authors": "Wilson BG, Roberts CW", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "21654818", "url": "https://glygen.org/publication/PubMed/21654818" } ] }, { "title": "SHP2 tyrosine phosphatase converts parafibromin/Cdc73 from a tumor suppressor to an oncogenic driver.", "journal": "Molecular cell", "date": "2011", "authors": "Takahashi A, Tsutsumi R, Kikuchi I, Obuse C, Saito Y, Seidi A, Karisch R, Fernandez M, Cho T, Ohnishi N, Rozenblatt-Rosen O, Meyerson M, Neel BG, Hatakeyama M", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "21726809", "url": "https://glygen.org/publication/PubMed/21726809" } ] }, { "title": "The IQGAP1 protein is a calmodulin-regulated barbed end capper of actin filaments: possible implications in its function in cell migration.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Pelikan-Conchaudron A, Le Clainche C, Didry D, Carlier MF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5626467", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5626467" } ], "reference": [ { "type": "PubMed", "id": "21730051", "url": "https://glygen.org/publication/PubMed/21730051" } ] }, { "title": "Pygo2 regulates histone gene expression and H3 K56 acetylation in human mammary epithelial cells.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2012", "authors": "Gu B, Watanabe K, Dai X", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "22186018", "url": "https://glygen.org/publication/PubMed/22186018" } ] }, { "title": "Probing transcription-specific outputs of beta-catenin in vivo.", "journal": "Genes & development", "date": "2011", "authors": "Valenta T, Gay M, Steiner S, Draganova K, Zemke M, Hoffmans R, Cinelli P, Aguet M, Sommer L, Basler K", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "22190459", "url": "https://glygen.org/publication/PubMed/22190459" } ] }, { "title": "The plasticity of WDR5 peptide-binding cleft enables the binding of the SET1 family of histone methyltransferases.", "journal": "Nucleic acids research", "date": "2012-05", "authors": "Zhang Pamela, Lee Hwabin, Brunzelle Joseph S, Couture Jean-Francois", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "22266653", "url": "https://glygen.org/publication/PubMed/22266653" } ] }, { "title": "Impaired transforming growth factor-beta (TGF-beta) transcriptional activity and cell proliferation control of a menin in-frame deletion mutant associated with multiple endocrine neoplasia type 1 (MEN1).", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Canaff L, Vanbellinghen JF, Kaji H, Goltzman D, Hendy GN", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "22275377", "url": "https://glygen.org/publication/PubMed/22275377" } ] }, { "title": "XIAP monoubiquitylates Groucho/TLE to promote canonical Wnt signaling.", "journal": "Molecular cell", "date": "2012", "authors": "Hanson AJ, Wallace HA, Freeman TJ, Beauchamp RD, Lee LA, Lee E", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "22304967", "url": "https://glygen.org/publication/PubMed/22304967" } ] }, { "title": "The same pocket in menin binds both MLL and JUND but has opposite effects on transcription.", "journal": "Nature", "date": "2012", "authors": "Huang J, Gurung B, Wan B, Matkar S, Veniaminova NA, Wan K, Merchant JL, Hua X, Lei M", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" }, { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "22327296", "url": "https://glygen.org/publication/PubMed/22327296" } ] }, { "title": "The many faces and functions of beta-catenin.", "journal": "The EMBO journal", "date": "2012", "authors": "Valenta T, Hausmann G, Basler K", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "22617422", "url": "https://glygen.org/publication/PubMed/22617422" } ] }, { "title": "WRAD: enabler of the SET1-family of H3K4 methyltransferases.", "journal": "Briefings in functional genomics", "date": "2012-05", "authors": "Ernst Patricia, Vakoc Christopher R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "22652693", "url": "https://glygen.org/publication/PubMed/22652693" } ] }, { "title": "Structural basis for WDR5 interaction (Win) motif recognition in human SET1 family histone methyltransferases.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Dharmarajan V, Lee JH, Patel A, Skalnik DG, Cosgrove MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "22665483", "url": "https://glygen.org/publication/PubMed/22665483" } ] }, { "title": "Structural insights into inhibition of the bivalent menin-MLL interaction by small molecules in leukemia.", "journal": "Blood", "date": "2012", "authors": "Shi Aibin, Murai Marcelo J, He Shihan, Lund George, Hartley Thomas, Purohit Trupta, Reddy Gireesh, Chruszcz Maksymilian, Grembecka Jolanta, Cierpicki Tomasz", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "22936661", "url": "https://glygen.org/publication/PubMed/22936661" } ] }, { "title": "A calcium-dependent interaction between calmodulin and the calponin homology domain of human IQGAP1.", "journal": "Molecular and cellular biochemistry", "date": "2012", "authors": "Andrews WJ, Bradley CA, Hamilton E, Daly C, Mallon T, Timson DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5626467", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5626467" } ], "reference": [ { "type": "PubMed", "id": "22944912", "url": "https://glygen.org/publication/PubMed/22944912" } ] }, { "title": "The many roles of the conserved eukaryotic Paf1 complex in regulating transcription, histone modifications, and disease states.", "journal": "Biochimica et biophysica acta", "date": "2013", "authors": "Tomson BN, Arndt KM", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "22982193", "url": "https://glygen.org/publication/PubMed/22982193" } ] }, { "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": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" }, { "database": "iPTMnet", "id": "O00255", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00255" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Quantitative dissection and stoichiometry determination of the human SET1/MLL histone methyltransferase complexes.", "journal": "Molecular and cellular biology", "date": "2013-05", "authors": "van Nuland Rick, Smits Arne H, Pallaki Paschalina, Jansen Pascal W T C, Vermeulen Michiel, Timmers H T Marc", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "23508102", "url": "https://glygen.org/publication/PubMed/23508102" } ] }, { "title": "Regulation of transcription by the MLL2 complex and MLL complex-associated AKAP95.", "journal": "Nature structural & molecular biology", "date": "2013", "authors": "Jiang H, Lu X, Shimada M, Dou Y, Tang Z, Roeder RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "23995757", "url": "https://glygen.org/publication/PubMed/23995757" } ] }, { "title": "Crosstalk between NSL histone acetyltransferase and MLL/SET complexes: NSL complex functions in promoting histone H3K4 di-methylation activity by MLL/SET complexes.", "journal": "PLoS genetics", "date": "2013-11", "authors": "Zhao Xiaoming, Su Jiaming, Wang Fei, Liu Da, Ding Jian, Yang Yang, Conaway Joan W, Conaway Ronald C, Cao Lingling, Wu Donglu, Wu Min, Cai Yong, Jin Jingji", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "24244196", "url": "https://glygen.org/publication/PubMed/24244196" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" }, { "database": "iPTMnet", "id": "O00255", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00255" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "beta-Catenin, a Sox2 binding partner, regulates the DNA binding and transcriptional activity of Sox2 in breast cancer cells.", "journal": "Cellular signalling", "date": "2014", "authors": "Ye X, Wu F, Wu C, Wang P, Jung K, Gopal K, Ma Y, Li L, Lai R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "24291232", "url": "https://glygen.org/publication/PubMed/24291232" } ] }, { "title": "H3K4 mono- and di-methyltransferase MLL4 is required for enhancer activation during cell differentiation.", "journal": "eLife", "date": "2013", "authors": "Lee JE, Wang C, Xu S, Cho YW, Wang L, Feng X, Baldridge A, Sartorelli V, Zhuang L, Peng W, Ge K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "24368734", "url": "https://glygen.org/publication/PubMed/24368734" } ] }, { "title": "A non-active-site SET domain surface crucial for the interaction of MLL1 and the RbBP5/Ash2L heterodimer within MLL family core complexes.", "journal": "Journal of molecular biology", "date": "2014-06-12", "authors": "Shinsky Stephen A, Hu Michael, Vought Valarie E, Ng Sarah B, Bamshad Michael J, Shendure Jay, Cosgrove Michael S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "24680668", "url": "https://glygen.org/publication/PubMed/24680668" } ] }, { "title": "Structure of the Mr 140,000 growth hormone-dependent insulin-like growth factor binding protein complex: determination by reconstitution and affinity-labeling.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1989", "authors": "Baxter RC, Martin JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "2476804", "url": "https://glygen.org/publication/PubMed/2476804" } ] }, { "title": "Cloning, sequence analysis and expression of a cDNA encoding a novel insulin-like growth factor binding protein (IGFBP-2).", "journal": "The EMBO journal", "date": "1989", "authors": "Binkert C, Landwehr J, Mary JL, Schwander J, Heinrich G", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "2479552", "url": "https://glygen.org/publication/PubMed/2479552" } ] }, { "title": "The same site on the integrase-binding domain of lens epithelium-derived growth factor is a therapeutic target for MLL leukemia and HIV.", "journal": "Blood", "date": "2014", "authors": "Murai MJ, Pollock J, He S, Miao H, Purohit T, Yokom A, Hess JL, Muntean AG, Grembecka J, Cierpicki T", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "25305204", "url": "https://glygen.org/publication/PubMed/25305204" } ] }, { "title": "Biochemical reconstitution and phylogenetic comparison of human SET1 family core complexes involved in histone methylation.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Shinsky SA, Monteith KE, Viggiano S, Cosgrove MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "25561738", "url": "https://glygen.org/publication/PubMed/25561738" } ] }, { "title": "A phosphorylation switch on RbBP5 regulates histone H3 Lys4 methylation.", "journal": "Genes & development", "date": "2015", "authors": "Zhang P, Chaturvedi CP, Tremblay V, Cramet M, Brunzelle JS, Skiniotis G, Brand M, Shilatifard A, Couture JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "25593305", "url": "https://glygen.org/publication/PubMed/25593305" } ] }, { "title": "A Single Kinase Generates the Majority of the Secreted Phosphoproteome.", "journal": "Cell", "date": "2015", "authors": "Tagliabracci VS, Wiley SE, Guo X, Kinch LN, Durrant E, Wen J, Xiao J, Cui J, Nguyen KB, Engel JL, Coon JJ, Grishin N, Pinna LA, Pagliarini DJ, Dixon JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "26091039", "url": "https://glygen.org/publication/PubMed/26091039" } ] }, { "title": "Unique Role of the WD-40 Repeat Protein 5 (WDR5) Subunit within the Mixed Lineage Leukemia 3 (MLL3) Histone Methyltransferase Complex.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Shinsky SA, Cosgrove MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "26324722", "url": "https://glygen.org/publication/PubMed/26324722" } ] }, { "title": "Structural basis for activity regulation of MLL family methyltransferases.", "journal": "Nature", "date": "2016", "authors": "Li Y, Han J, Zhang Y, Cao F, Liu Z, Li S, Wu J, Hu C, Wang Y, Shuai J, Chen J, Cao L, Li D, Shi P, Tian C, Zhang J, Dou Y, Li G, Chen Y, Lei M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "26886794", "url": "https://glygen.org/publication/PubMed/26886794" } ] }, { "title": "Targeted Disruption of the Interaction between WD-40 Repeat Protein 5 (WDR5) and Mixed Lineage Leukemia (MLL)/SET1 Family Proteins Specifically Inhibits MLL1 and SETd1A Methyltransferase Complexes.", "journal": "The Journal of biological chemistry", "date": "2016-10-21", "authors": "Alicea-Vel\u00e1zquez Nilda L, Shinsky Stephen A, Loh Daniel M, Lee Jeong-Heon, Skalnik David G, Cosgrove Michael S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "27563068", "url": "https://glygen.org/publication/PubMed/27563068" } ] }, { "title": "Enhancer priming by H3K4 methyltransferase MLL4 controls cell fate transition.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2016-10-18", "authors": "Wang Chaochen, Lee Ji-Eun, Lai Binbin, Macfarlan Todd S, Xu Shiliyang, Zhuang Lenan, Liu Chengyu, Peng Weiqun, Ge Kai", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "27698142", "url": "https://glygen.org/publication/PubMed/27698142" } ] }, { "title": "PHF20 Readers Link Methylation of Histone H3K4 and p53 with H4K16 Acetylation.", "journal": "Cell reports", "date": "2016", "authors": "Klein BJ, Wang X, Cui G, Yuan C, Botuyan MV, Lin K, Lu Y, Wang X, Zhao Y, Bruns CJ, Mer G, Shi X, Kutateladze TG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "27760318", "url": "https://glygen.org/publication/PubMed/27760318" } ] }, { "title": "Somatic cancer mutations in the MLL1 histone methyltransferase modulate its enzymatic activity and dependence on the WDR5/RBBP5/ASH2L complex.", "journal": "Molecular oncology", "date": "2017", "authors": "Weirich S, Kudithipudi S, Jeltsch A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "28182322", "url": "https://glygen.org/publication/PubMed/28182322" } ] }, { "title": "MLL3/MLL4 are required for CBP/p300 binding on enhancers and super-enhancer formation in brown adipogenesis.", "journal": "Nucleic acids research", "date": "2017-06-20", "authors": "Lai Binbin, Lee Ji-Eun, Jang Younghoon, Wang Lifeng, Peng Weiqun, Ge Kai", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "28398509", "url": "https://glygen.org/publication/PubMed/28398509" } ] }, { "title": "A cytoplasmic COMPASS is necessary for cell survival and triple-negative breast cancer pathogenesis by regulating metabolism.", "journal": "Genes & development", "date": "2017-10-15", "authors": "Wang Lu, Collings Clayton K, Zhao Zibo, Cozzolino Kira Alia, Ma Quanhong, Liang Kaiwei, Marshall Stacy A, Sze Christie C, Hashizume Rintaro, Savas Jeffrey Nicholas, Shilatifard Ali", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "29138278", "url": "https://glygen.org/publication/PubMed/29138278" } ] }, { "title": "The structure of the RbBP5 beta-propeller domain reveals a surface with potential nucleic acid binding sites.", "journal": "Nucleic acids research", "date": "2018", "authors": "Mittal A, Hobor F, Zhang Y, Martin SR, Gamblin SJ, Ramos A, Wilson JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "29897600", "url": "https://glygen.org/publication/PubMed/29897600" } ] }, { "title": "Histone Methylation by SETD1A Protects Nascent DNA through the Nucleosome Chaperone Activity of FANCD2.", "journal": "Molecular cell", "date": "2018", "authors": "Higgs MR, Sato K, Reynolds JJ, Begum S, Bayley R, Goula A, Vernet A, Paquin KL, Skalnik DG, Kobayashi W, Takata M, Howlett NG, Kurumizaka H, Kimura H, Stewart GS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "29937342", "url": "https://glygen.org/publication/PubMed/29937342" } ] }, { "title": "GLP-1 signaling suppresses menin's transcriptional block by phosphorylation in beta cells.", "journal": "The Journal of cell biology", "date": "2019", "authors": "Xing B, Ma J, Jiang Z, Feng Z, Ling S, Szigety K, Su W, Zhang L, Jia R, Sun Y, Zhang L, Kong X, Ma X, Hua X", "evidence": [ { "database": "iPTMnet", "id": "O00255", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00255" } ], "reference": [ { "type": "PubMed", "id": "30792230", "url": "https://glygen.org/publication/PubMed/30792230" } ] }, { "title": "The MLL1 trimeric catalytic complex is a dynamic conformational ensemble stabilized by multiple weak interactions.", "journal": "Nucleic acids research", "date": "2019", "authors": "Kaustov L, Lemak A, Wu H, Faini M, Fan L, Fang X, Zeng H, Duan S, Allali-Hassani A, Li F, Wei Y, Vedadi M, Aebersold R, Wang Y, Houliston S, Arrowsmith CH", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "31400120", "url": "https://glygen.org/publication/PubMed/31400120" } ] }, { "title": "Structural basis of nucleosome recognition and modification by MLL methyltransferases.", "journal": "Nature", "date": "2019-09", "authors": "Xue Han, Yao Tonghui, Cao Mi, Zhu Guanjun, Li Yan, Yuan Guiyong, Chen Yong, Lei Ming, Huang Jing", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "31485071", "url": "https://glygen.org/publication/PubMed/31485071" } ] }, { "title": "The internal interaction in RBBP5 regulates assembly and activity of MLL1 methyltransferase complex.", "journal": "Nucleic acids research", "date": "2019", "authors": "Han J, Li T, Li Y, Li M, Wang X, Peng C, Su C, Li N, Li Y, Xu Y, Chen Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "31544921", "url": "https://glygen.org/publication/PubMed/31544921" } ] }, { "title": "TGF-beta1 Increases GDNF Production by Upregulating the Expression of GDNF and Furin in Human Granulosa-Lutein Cells.", "journal": "Cells", "date": "2020", "authors": "Yin J, Chang HM, Yi Y, Yao Y, Leung PCK", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "31936902", "url": "https://glygen.org/publication/PubMed/31936902" } ] }, { "title": "Complex-dependent histone acetyltransferase activity of KAT8 determines its role in transcription and cellular homeostasis.", "journal": "Molecular cell", "date": "2021", "authors": "Radzisheuskaya A, Shliaha PV, Grinev VV, Shlyueva D, Damhofer H, Koche R, Gorshkov V, Kovalchuk S, Zhan Y, Rodriguez KL, Johnstone AL, Keogh MC, Hendrickson RC, Jensen ON, Helin K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "33657400", "url": "https://glygen.org/publication/PubMed/33657400" } ] }, { "title": "Mechanism for DPY30 and ASH2L intrinsically disordered regions to modulate the MLL/SET1 activity on chromatin.", "journal": "Nature communications", "date": "2021", "authors": "Lee YT, Ayoub A, Park SH, Sha L, Xu J, Mao F, Zheng W, Zhang Y, Cho US, Dou Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "34012049", "url": "https://glygen.org/publication/PubMed/34012049" } ] }, { "title": "GRWD1-WDR5-MLL2 Epigenetic Complex Mediates H3K4me3 Mark and Is Essential for Kaposi's Sarcoma-Associated Herpesvirus-Induced Cellular Transformation.", "journal": "mBio", "date": "2021", "authors": "Wei S, Lu S, Liang L, Wang X, Li W, Li T, Chen L, Ju E, Zhang X, Lai Z, Huang Y, Lu X, Gao SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "34933446", "url": "https://glygen.org/publication/PubMed/34933446" } ] }, { "title": "Methyl-lysine readers PHF20 and PHF20L1 define two distinct\u00a0gene expression-regulating NSL complexes.", "journal": "The Journal of biological chemistry", "date": "2022-03", "authors": "Van Hieu T, Harkins Peter R, Patel Avni, Jain Abhinav K, Lu Yue, Bedford Mark T, Santos Margarida A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "35033534", "url": "https://glygen.org/publication/PubMed/35033534" } ] }, { "title": "Disentangling the recognition complexity of a protein hub using a nanopore.", "journal": "Nature communications", "date": "2022-02-21", "authors": "Mayse Lauren Ashley, Imran Ali, Larimi Motahareh Ghahari, Cosgrove Michael S, Wolfe Aaron James, Movileanu Liviu", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "35190547", "url": "https://glygen.org/publication/PubMed/35190547" } ] }, { "title": "H3K4 methylation by SETD1A/BOD1L facilitates RIF1-dependent NHEJ.", "journal": "Molecular cell", "date": "2022-05-19", "authors": "Bayley Rachel, Borel Valerie, Moss Rhiannon J, Sweatman Ellie, Ruis Philip, Ormrod Alice, Goula Amalia, Mottram Rachel M A, Stanage Tyler, Hewitt Graeme, Saponaro Marco, Stewart Grant S, Boulton Simon J, Higgs Martin R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "35439434", "url": "https://glygen.org/publication/PubMed/35439434" } ] }, { "title": "MEN1 is a regulator of alternative splicing and prevents R-loop-induced genome instability through suppression of RNA polymerase II elongation.", "journal": "Nucleic acids research", "date": "2023-08-25", "authors": "Jin Bangming, Zhu Jiamei, Pan Ting, Yang Yunqiao, Liang Li, Zhou Yuxia, Zhang Tuo, Teng Yin, Wang Ziming, Wang Xuyan, Tian Qianting, Guo Bing, Li Haiyang, Chen Tengxiang", "evidence": [ { "database": "RefSeq", "id": "NP_000235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000235" } ], "reference": [ { "type": "PubMed", "id": "37395406", "url": "https://glygen.org/publication/PubMed/37395406" } ] }, { "title": "Evaluating the role of MEN1 gene expression and its clinical significance in breast cancer patients.", "journal": "PloS one", "date": "2023", "authors": "Massey Sheersh, Khan Mohammad Aasif, Rab Safia Obaidur, Mustafa Saad, Khan Asifa, Malik Zoya, Shaik Rahimunnisa, Verma Mohit Kumar, Deo Svs, Husain Syed Akhtar", "evidence": [ { "database": "RefSeq", "id": "NP_000235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000235" } ], "reference": [ { "type": "PubMed", "id": "37437063", "url": "https://glygen.org/publication/PubMed/37437063" } ] }, { "title": "Clinically Defined Mutations in MEN1 Alter Its Tumor-suppressive Function Through Increased Menin Turnover.", "journal": "Cancer research communications", "date": "2023-07", "authors": "Duan Suzann, Sheriff Sulaiman, Elvis-Offiah Uloma B, Witten Brandon L, Sawyer Travis W, Sundaresan Sinju, Cierpicki Tomasz, Grembecka Jolanta, Merchant Juanita L", "evidence": [ { "database": "RefSeq", "id": "NP_000235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000235" } ], "reference": [ { "type": "PubMed", "id": "37492626", "url": "https://glygen.org/publication/PubMed/37492626" } ] }, { "title": "Multiple endocrine neoplasia type 1 with Zollinger-Ellison syndrome: clinicopathological analysis of a Japanese family with focus on menin immunohistochemistry.", "journal": "Frontiers in endocrinology", "date": "2023", "authors": "Kimura Noriko, Hirata Yasuji, Iwashiro Nozomu, Kijima Hiroshi, Takayasu Shinobu, Yamagata Satoshi, Sakihara Satoru, Uchino Shinya, Ohara Masanori", "evidence": [ { "database": "RefSeq", "id": "NP_000235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000235" } ], "reference": [ { "type": "PubMed", "id": "37867522", "url": "https://glygen.org/publication/PubMed/37867522" } ] }, { "title": "Dependency of B-Cell Acute Lymphoblastic Leukemia and Multiple Myeloma Cell Lines on MEN1 Extends beyond MEN1-KMT2A Interaction.", "journal": "International journal of molecular sciences", "date": "2023-11-17", "authors": "Wolffhardt Tatjana Magdalena, Ketzer Franz, Telese Stefano, Wirth Thomas, Ushmorov Alexey", "evidence": [ { "database": "RefSeq", "id": "NP_000235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000235" } ], "reference": [ { "type": "PubMed", "id": "38003662", "url": "https://glygen.org/publication/PubMed/38003662" } ] }, { "title": "Heparin, heparan sulfate, and dermatan sulfate regulate formation of the insulin-like growth factor-I and insulin-like growth factor-binding protein complexes.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Arai T, Parker A, Busby W Jr, Clemmons DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7519608", "url": "https://glygen.org/publication/PubMed/7519608" } ] }, { "title": "Matrix metalloproteinases degrade insulin-like growth factor-binding protein-3 in dermal fibroblast cultures.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Fowlkes JL, Enghild JJ, Suzuki K, Nagase H", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7523391", "url": "https://glygen.org/publication/PubMed/7523391" } ] }, { "title": "Recombinant human insulin-like growth factor (IGF)-binding protein-6 inhibits IGF-II-induced differentiation of L6A1 myoblasts.", "journal": "Endocrinology", "date": "1994", "authors": "Bach LA, Hsieh S, Brown AL, Rechler MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7525263", "url": "https://glygen.org/publication/PubMed/7525263" } ] }, { "title": "Identification of insulin-like growth factor-binding protein-3 (IGFBP-3) fragments and IGFBP-5 proteolytic activity in human seminal plasma: a comparison of normal and vasectomized patients.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1994", "authors": "Lee KO, Oh Y, Giudice LC, Cohen P, Peehl DM, Rosenfeld RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7525634", "url": "https://glygen.org/publication/PubMed/7525634" } ] }, { "title": "Biological effects of prostate specific antigen as an insulin-like growth factor binding protein-3 protease.", "journal": "The Journal of endocrinology", "date": "1994", "authors": "Cohen P, Peehl DM, Graves HC, Rosenfeld RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7525824", "url": "https://glygen.org/publication/PubMed/7525824" } ] }, { "title": "Interactions between insulin-like growth factor-I (IGF-I) and the system of plasminogen activators and their inhibitors in the control of IGF-binding protein-3 production and proteolysis in human osteosarcoma cells.", "journal": "Endocrinology", "date": "1994", "authors": "Lalou C, Silve C, Rosato R, Segovia B, Binoux M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7527330", "url": "https://glygen.org/publication/PubMed/7527330" } ] }, { "title": "Biochemical analysis of prostate specific antigen-proteolyzed insulin-like growth factor binding protein-3.", "journal": "Growth regulation", "date": "1994", "authors": "Fielder PJ, Rosenfeld RG, Graves HC, Grandbois K, Maack CA, Sawamura S, Ogawa Y, Sommer A, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7538844", "url": "https://glygen.org/publication/PubMed/7538844" } ] }, { "title": "Serum levels of insulin-like growth factor (IGF)-binding protein-3 (IGFBP-3) in healthy infants, children, and adolescents: the relation to IGF-I, IGF-II, IGFBP-1, IGFBP-2, age, sex, body mass index, and pubertal maturation.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1995", "authors": "Juul A, Dalgaard P, Blum WF, Bang P, Hall K, Michaelsen KF, Muller J, Skakkebaek NE", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7543116", "url": "https://glygen.org/publication/PubMed/7543116" } ] }, { "title": "Autocrine regulation of cell proliferation by the insulin-like growth factor (IGF) and IGF binding protein-3 protease system in a human prostate carcinoma cell line (PC-3).", "journal": "Endocrinology", "date": "1995", "authors": "Angelloz-Nicoud P, Binoux M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7588299", "url": "https://glygen.org/publication/PubMed/7588299" } ] }, { "title": "Binding of mutants of human insulin-like growth factor II to insulin-like growth factor binding proteins 1-6.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Bach LA, Hsieh S, Sakano K, Fujiwara H, Perdue JF, Rechler MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7683646", "url": "https://glygen.org/publication/PubMed/7683646" } ] }, { "title": "Glucose does not influence the insulin-like growth factor (JGF) binding to carrier proteins (IGFBPs): analysis of rat and human serum by western ligand blotting.", "journal": "Experientia", "date": "1993", "authors": "Cianfarani S, Frost VJ, Savage MO, Holly JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7689487", "url": "https://glygen.org/publication/PubMed/7689487" } ] }, { "title": "The Ras GTPase-activating-protein-related human protein IQGAP2 harbors a potential actin binding domain and interacts with calmodulin and Rho family GTPases.", "journal": "Molecular and cellular biology", "date": "1996", "authors": "Brill S, Li S, Lyman CW, Church DM, Wasmuth JJ, Weissbach L, Bernards A, Snijders AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5626467", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5626467" } ], "reference": [ { "type": "PubMed", "id": "8756646", "url": "https://glygen.org/publication/PubMed/8756646" } ] }, { "title": "XTcf-3 transcription factor mediates beta-catenin-induced axis formation in Xenopus embryos.", "journal": "Cell", "date": "1996", "authors": "Molenaar M, van de Wetering M, Oosterwegel M, Peterson-Maduro J, Godsave S, Korinek V, Roose J, Destree O, Clevers H", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "8756721", "url": "https://glygen.org/publication/PubMed/8756721" } ] }, { "title": "Functional interaction of beta-catenin with the transcription factor LEF-1.", "journal": "Nature", "date": "1996", "authors": "Behrens J, von Kries JP, Kuhl M, Bruhn L, Wedlich D, Grosschedl R, Birchmeier W", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "8757136", "url": "https://glygen.org/publication/PubMed/8757136" } ] }, { "title": "Measurement of insulin-like growth factor (IGF)-II binding to purified IGF binding proteins 1-6: comparison of charcoal adsorption and high performance size exclusion chromatography.", "journal": "Biochimica et biophysica acta", "date": "1996", "authors": "Bach LA, Rechler MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "8781553", "url": "https://glygen.org/publication/PubMed/8781553" } ] }, { "title": "Identification of IQGAP as a putative target for the small GTPases, Cdc42 and Rac1.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Kuroda S, Fukata M, Kobayashi K, Nakafuku M, Nomura N, Iwamatsu A, Kaibuchi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5626467", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5626467" } ], "reference": [ { "type": "PubMed", "id": "8798539", "url": "https://glygen.org/publication/PubMed/8798539" } ] }, { "title": "Insulin-like growth factor binding protein (IGFBP) proteases: functional regulators of cell growth.", "journal": "Progress in growth factor research", "date": "1995", "authors": "Rajah R, Katz L, Nunn S, Solberg P, Beers T, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "8817670", "url": "https://glygen.org/publication/PubMed/8817670" } ] }, { "title": "Recombinant human insulin-like growth factor (IGF) binding protein-3 stimulates prostate carcinoma cell proliferation via an IGF-dependent mechanism. Role of serine proteases.", "journal": "Growth regulation", "date": "1996", "authors": "Angelloz-Nicoud P, Harel L, Binoux M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "8894645", "url": "https://glygen.org/publication/PubMed/8894645" } ] }, { "title": "Products of the grg (Groucho-related gene) family can dimerize through the amino-terminal Q domain.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Pinto M, Lobe CG", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "8955148", "url": "https://glygen.org/publication/PubMed/8955148" } ] }, { "title": "Isolation and characterization of proteolytic fragments of insulin-like growth factor-binding protein-3.", "journal": "Hormone research", "date": "1996", "authors": "Lalou C, Lassarre C, Binoux M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "8964575", "url": "https://glygen.org/publication/PubMed/8964575" } ] }, { "title": "Positional cloning of the gene for multiple endocrine neoplasia-type 1.", "journal": "Science (New York, N.Y.)", "date": "1997", "authors": "Chandrasekharappa SC, Guru SC, Manickam P, Olufemi SE, Collins FS, Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Crabtree JS, Wang Y, Roe BA, Weisemann J, Boguski MS, Agarwal SK, Kester MB, Kim YS, Heppner C, Dong Q, Spiegel AM, Burns AL, Marx SJ", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "9103196", "url": "https://glygen.org/publication/PubMed/9103196" } ] }, { "title": "Armadillo coactivates transcription driven by the product of the Drosophila segment polarity gene dTCF.", "journal": "Cell", "date": "1997", "authors": "van de Wetering M, Cavallo R, Dooijes D, van Beest M, van Es J, Loureiro J, Ypma A, Hursh D, Jones T, Bejsovec A, Peifer M, Mortin M, Clevers H", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "9118222", "url": "https://glygen.org/publication/PubMed/9118222" } ] }, { "title": "IQGAP1, a Rac- and Cdc42-binding protein, directly binds and cross-links microfilaments.", "journal": "The Journal of cell biology", "date": "1997", "authors": "Bashour AM, Fullerton AT, Hart MJ, Bloom GS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5626467", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5626467" } ], "reference": [ { "type": "PubMed", "id": "9199170", "url": "https://glygen.org/publication/PubMed/9199170" } ] }, { "title": "Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.", "journal": "Hum. Mol. Genet.", "date": "1997", "authors": "Agarwal S K, Kester M B, Debelenko L V, Heppner C, Emmert-Buck M R, Skarulis M C, Doppman J L, Kim Y S, Lubensky I A, Zhuang Z, Green J S, Guru S C, Manickam P, Olufemi S E, Liotta L A, Chandrasekharappa S C, Collins F S, Spiegel A M, Burns A L, Marx S J", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "9215689", "url": "https://glygen.org/publication/PubMed/9215689" } ] }, { "title": "Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1.", "journal": "Human molecular genetics", "date": "1997", "authors": "Lemmens I, Van de Ven WJ, Kas K, Zhang CX, Giraud S, Wautot V, Buisson N, De Witte K, Salandre J, Lenoir G, Pugeat M, Calender A, Parente F, Quincey D, Gaudray P, De Wit MJ, Lips CJ, Hoppener JW, Khodaei S, Grant AL, Weber G, Kytola S, Teh BT, Farnebo F, Thakker RV, et al.", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "9215690", "url": "https://glygen.org/publication/PubMed/9215690" } ] }, { "title": "Somatic mutation of the MEN1 gene in parathyroid tumours.", "journal": "Nature genetics", "date": "1997", "authors": "Heppner C, Kester MB, Agarwal SK, Debelenko LV, Emmert-Buck MR, Guru SC, Manickam P, Olufemi SE, Skarulis MC, Doppman JL, Alexander RH, Kim YS, Saggar SK, Lubensky IA, Zhuang Z, Liotta LA, Chandrasekharappa SC, Collins FS, Spiegel AM, Burns AL, Marx SJ", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "9241276", "url": "https://glygen.org/publication/PubMed/9241276" } ] }, { "title": "Regulation of cross-linking of actin filament by IQGAP1, a target for Cdc42.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Fukata M, Kuroda S, Fujii K, Nakamura T, Shoji I, Matsuura Y, Okawa K, Iwamatsu A, Kikuchi A, Kaibuchi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5626467", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5626467" } ], "reference": [ { "type": "PubMed", "id": "9368021", "url": "https://glygen.org/publication/PubMed/9368021" } ] }, { "title": "Characterization of mutations in patients with multiple endocrine neoplasia type 1.", "journal": "American journal of human genetics", "date": "1998", "authors": "Bassett JH, Forbes SA, Pannett AA, Lloyd SE, Christie PT, Wooding C, Harding B, Besser GM, Edwards CR, Monson JP, Sampson J, Wass JA, Wheeler MH, Thakker RV", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "9463336", "url": "https://glygen.org/publication/PubMed/9463336" } ] }, { "title": "Two members of the Tcf family implicated in Wnt/beta-catenin signaling during embryogenesis in the mouse.", "journal": "Molecular and cellular biology", "date": "1998", "authors": "Korinek V, Barker N, Willert K, Molenaar M, Roose J, Wagenaar G, Markman M, Lamers W, Destree O, Clevers H", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "9488439", "url": "https://glygen.org/publication/PubMed/9488439" } ] }, { "title": "Molecular cloning of translocation t(1;14)(q21;q32) defines a novel gene (BCL9) at chromosome 1q21.", "journal": "Blood", "date": "1998", "authors": "Willis TG, Zalcberg IR, Coignet LJ, Wlodarska I, Stul M, Jadayel DM, Bastard C, Treleaven JG, Catovsky D, Silva ML, Dyer MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "9490669", "url": "https://glygen.org/publication/PubMed/9490669" } ] }, { "title": "Insulin-like growth factor (IGF)-binding protein 5 forms an alternative ternary complex with IGFs and the acid-labile subunit.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Twigg SM, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "9497324", "url": "https://glygen.org/publication/PubMed/9497324" } ] }, { "title": "Absence of germ-line mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in familial pituitary adenoma in contrast to MEN1 in Japanese.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1998", "authors": "Tanaka C, Yoshimoto K, Yamada S, Nishioka H, Ii S, Moritani M, Yamaoka T, Itakura M", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "9506756", "url": "https://glygen.org/publication/PubMed/9506756" } ] }, { "title": "Analysis of recurrent germline mutations in the MEN1 gene encountered in apparently unrelated families.", "journal": "Hum. Mutat.", "date": "1998", "authors": "Agarwal S K, Debelenko L V, Kester M B, Guru S C, Manickam P, Olufemi S E, Skarulis M C, Heppner C, Crabtree J S, Lubensky I A, Zhuang Z, Kim Y S, Chandrasekharappa S C, Collins F S, Liotta L A, Spiegel A M, Burns A L, Emmert-Buck M R, Marx S J", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "9671267", "url": "https://glygen.org/publication/PubMed/9671267" } ] }, { "title": "Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders.", "journal": "Am. J. Hum. Genet.", "date": "1998", "authors": "Giraud S, Zhang C X, Serova-Sinilnikova O, Wautot V, Salandre J, Buisson N, Waterlot C, Bauters C, Porchet N, Aubert J P, Emy P, Cadiot G, Delemer B, Chabre O, Niccoli P, Leprat F, Duron F, Emperauger B, Cougard P, Goudet P, Sarfati E, Riou J P, Guichard S, Rodier M, Meyrier A, Caron P, Vantyghem M C, Assayag M, Peix J L, Pugeat M, Rohmer V, Vallotton M, Lenoir G, Gaudray P, Proye C, Conte-Devolx B, Chanson P, Shugart Y Y, Goldgar D, Murat A, Calender A", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "9683585", "url": "https://glygen.org/publication/PubMed/9683585" } ] }, { "title": "Role of IQGAP1, a target of the small GTPases Cdc42 and Rac1, in regulation of E-cadherin- mediated cell-cell adhesion.", "journal": "Science (New York, N.Y.)", "date": "1998", "authors": "Kuroda S, Fukata M, Nakagawa M, Fujii K, Nakamura T, Ookubo T, Izawa I, Nagase T, Nomura N, Tani H, Shoji I, Matsuura Y, Yonehara S, Kaibuchi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5626467", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5626467" } ], "reference": [ { "type": "PubMed", "id": "9694656", "url": "https://glygen.org/publication/PubMed/9694656" } ] }, { "title": "Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1998", "authors": "Teh BT, Kytola S, Farnebo F, Bergman L, Wong FK, Weber G, Hayward N, Larsson C, Skogseid B, Beckers A, Phelan C, Edwards M, Epstein M, Alford F, Hurley D, Grimmond S, Silins G, Walters M, Stewart C, Cardinal J, Khodaei S, Parente F, Tranebjaerg L, Jorde R, Salmela P, et al.", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "9709921", "url": "https://glygen.org/publication/PubMed/9709921" } ] }, { "title": "Identification of novel high molecular weight insulin-like growth factor-binding protein-3 association proteins in human serum.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1998", "authors": "Collett-Solberg PF, Nunn SE, Gibson TB, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "9709957", "url": "https://glygen.org/publication/PubMed/9709957" } ] }, { "title": "Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1998", "authors": "Carling T, Correa P, Hessman O, Hedberg J, Skogseid B, Lindberg D, Rastad J, Westin G, Akerstrom G", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "9709976", "url": "https://glygen.org/publication/PubMed/9709976" } ] }, { "title": "Menin mutations in MEN1 patients.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1998", "authors": "Mayr B, Brabant G, von zur Muhlen A", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "9709985", "url": "https://glygen.org/publication/PubMed/9709985" } ] }, { "title": "The insulin-like growth factor (IGF)binding protein 1 binding epitope on IGF-I probed by heteronuclear NMR spectroscopy and mutational analysis.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Jansson M, Andersson G, Uhlen M, Nilsson B, Kordel J", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "9733769", "url": "https://glygen.org/publication/PubMed/9733769" } ] }, { "title": "Somatic mutations of the MEN1 tumor suppressor gene detected in sporadic angiofibromas.", "journal": "The Journal of investigative dermatology", "date": "1998", "authors": "Boni R, Vortmeyer AO, Pack S, Park WS, Burg G, Hofbauer G, Darling T, Liotta L, Zhuang Z", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "9740255", "url": "https://glygen.org/publication/PubMed/9740255" } ] }, { "title": "Novel MEN1 gene mutations in familial multiple endocrine neoplasia type 1.", "journal": "Journal of human genetics", "date": "1998", "authors": "Sakurai A, Shirahama S, Fujimori M, Katai M, Itakura Y, Kobayashi S, Amano J, Fukushima Y, Hashizume K", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "9747036", "url": "https://glygen.org/publication/PubMed/9747036" } ] }, { "title": "Transcriptional repression by AML1 and LEF-1 is mediated by the TLE/Groucho corepressors.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Levanon D, Goldstein RE, Bernstein Y, Tang H, Goldenberg D, Stifani S, Paroush Z, Groner Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "9751710", "url": "https://glygen.org/publication/PubMed/9751710" } ] }, { "title": "Insulin-like growth factor-binding protein 5 complexes with the acid-labile subunit. Role of the carboxyl-terminal domain.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Twigg SM, Kiefer MC, Zapf J, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "9786878", "url": "https://glygen.org/publication/PubMed/9786878" } ] }, { "title": "A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors.", "journal": "American journal of human genetics", "date": "1998", "authors": "Teh BT, Esapa CT, Houlston R, Grandell U, Farnebo F, Nordenskjold M, Pearce CJ, Carmichael D, Larsson C, Harris PE", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "9792884", "url": "https://glygen.org/publication/PubMed/9792884" } ] }, { "title": "A role for Groucho tetramerization in transcriptional repression.", "journal": "Molecular and cellular biology", "date": "1998", "authors": "Chen G, Nguyen PH, Courey AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "9819412", "url": "https://glygen.org/publication/PubMed/9819412" } ] }, { "title": "MEN1 gene mutations in 12 MEN1 families and their associated tumors.", "journal": "European journal of endocrinology", "date": "1998", "authors": "Bartsch D, Kopp I, Bergenfelz A, Rieder H, Munch K, Jager K, Deiss Y, Schudy A, Barth P, Arnold R, Rothmund M, Simon B", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "9820618", "url": "https://glygen.org/publication/PubMed/9820618" } ] }, { "title": "Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families.", "journal": "Journal of medical genetics", "date": "1998", "authors": "Sato M, Matsubara S, Miyauchi A, Ohye H, Imachi H, Murao K, Takahara J", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "9832038", "url": "https://glygen.org/publication/PubMed/9832038" } ] }, { "title": "Novel V184E MEN1 germline mutation in a Japanese kindred with familial hyperparathyroidism.", "journal": "American journal of medical genetics", "date": "1998", "authors": "Fujimori M, Shirahama S, Sakurai A, Hashizume K, Hama Y, Ito K, Shingu K, Kobayashi S, Amano J, Fukushima Y", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "9843042", "url": "https://glygen.org/publication/PubMed/9843042" } ] }, { "title": "Pontin52, an interaction partner of beta-catenin, binds to the TATA box binding protein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Bauer A, Huber O, Kemler R", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "9843967", "url": "https://glygen.org/publication/PubMed/9843967" } ] }, { "title": "Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases.", "journal": "Human mutation", "date": "1999", "authors": "Poncin J, Abs R, Velkeniers B, Bonduelle M, Abramowicz M, Legros JJ, Verloes A, Meurisse M, Van Gaal L, Verellen C, Koulischer L, Beckers A", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "9888389", "url": "https://glygen.org/publication/PubMed/9888389" } ] }, { "title": "Elevated levels of the IGF-binding protein protease MMP-1 in asthmatic airway smooth muscle.", "journal": "American journal of respiratory cell and molecular biology", "date": "1999", "authors": "Rajah R, Nachajon RV, Collins MH, Hakonarson H, Grunstein MM, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "9922210", "url": "https://glygen.org/publication/PubMed/9922210" } ] }, { "title": "MEN1 gene mutation analysis of sporadic adrenocortical lesions.", "journal": "International journal of cancer", "date": "1999", "authors": "Gortz B, Roth J, Speel EJ, Krahenmann A, De Krijger RR, Matias-Guiu X, Muletta-Feurer S, Rutmann K, Saremaslani P, Heitz PU, Komminoth P", "evidence": [ { "database": "Entrez", "id": "4221", "url": "https://www.ncbi.nlm.nih.gov/gene/4221" } ], "reference": [ { "type": "PubMed", "id": "9935177", "url": "https://glygen.org/publication/PubMed/9935177" } ] }, { "title": "Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription.", "journal": "Cell", "date": "1999", "authors": "Agarwal SK, Guru SC, Heppner C, Erdos MR, Collins RM, Park SY, Saggar S, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ, Burns AL", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "reference": [ { "type": "PubMed", "id": "9989505", "url": "https://glygen.org/publication/PubMed/9989505" } ] } ], "pathway": [ { "id": "R-HSA-201722", "name": "Formation of the beta-catenin:TCF transactivating complex", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722", "resource": "Reactome", "description": "Formation of the beta-catenin:TCF transactivating complex" }, { "id": "R-HSA-2173796", "name": "SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796", "resource": "Reactome", "description": "SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription" }, { "id": "R-HSA-3769402", "name": "Deactivation of the beta-catenin transactivating complex", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402", "resource": "Reactome", "description": "Deactivation of the beta-catenin transactivating complex" }, { "id": "R-HSA-381426", "name": "Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426", "resource": "Reactome", "description": "Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)" }, { "id": "R-HSA-5626467", "name": "RHO GTPases activate IQGAPs", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5626467", "resource": "Reactome", "description": "RHO GTPases activate IQGAPs" }, { "id": "R-HSA-8957275", "name": "Post-translational protein phosphorylation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8957275", "resource": "Reactome", "description": "Post-translational protein phosphorylation" }, { "id": "R-HSA-9772755", "name": "Formation of WDR5-containing histone-modifying complexes", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755", "resource": "Reactome", "description": "Formation of WDR5-containing histone-modifying complexes" } ], "orthologs": [ { "uniprot_canonical_ac": "O88559-1", "protein_name": "Menin", "gene_name": "Men1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGLKAAQKTLFPLRSIDDVVRLFAAELGREEPDLVLLSLVLGFVEHFLAVNRVIPTNVPELTFQPSPAPDPPGGLTYFPVADLSIIAALYARFTAQIRGAVDLSLYPREGGVSSRELVKKVSDVIWNSLSRSYFKDRAHIQSLFSFITGTKLDSSGVAFAVVGACQALGLRDVHLALSEDHAWVVFGPNGEQTAEVTWHGKGNEDRRGQTVNAGVAERSWLYLKGSYMRCDRKMEVAFMVCAINPSIDLHTDSLELLQLQQKLLWLLYDLGHLERYPMALGNLADLEELEPTPGRPDPLTLYHKGIASAKTYYQDEHIYPYMYLAGYHCRNRNVREALQAWADTATVIQDYNYCREDEEIYKEFFEVANDVIPNLLKEAASLLETGEERTGEQAQGTQGQGSALQDPECFAHLLRFYDGICKWEEGSPTPVLHVGWATFLVQSLGRFEGQVRQKVHIVSREAEAAEAEEPWGDEAREGRRRGPRRESKPEEPPPPKKPALDKGPGSGQSAGSGPPRKTSGTVPGTTRGGQEVGNAAQAPAPAASPPPEGPVLTFQSEKMKGMKELLVATKINSSAIKLQLTAQSQVQMKKQKVSTPSDYTLSFLKRQRKGL", "length": 611 }, "evidence": [ { "id": "45916548", "url": "http://www.informatics.jax.org/homology/45916548", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9WVR8-1", "protein_name": "Menin", "gene_name": "Men1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGLKAAQKTLFPLRSIDDVVRLFAAELGREEPDLVLLSLVLGFVEHFLAVNRVIPTNVPELTFQPSPAPDPPGGLTYFPVADLSIIAALYARFTAQIRGAVDLSLYPREGGVSSRELVKKVSDVIWNSLSRSYFKDRAHIQSLFSFITGTKLDSSGVAFAVVGACQALGLRDVHLALSEDHAWVVFGSNGEQTAEVTWHGKGNEDRRGQTVNAGVAERSWLYLKGSYMRCDRKMEVAFMVCAINPSIDLHTDSLELLQLQQKLLWLLYDLGHLERYPMALGNLADLEELEPTPGRPDPLTLYHKGIASAKTYYQDEHIYPYMYLAGYHCRNRNVREALQAWADTATVIQDYNYCREDEEIYKEFFEVANDVIPNLLKEAASLLEAGEERPGEQAQGTQGQGSALQDPECFAHLLRFYDGICKWEEGSPTPVLHVGWATFLVQSLGRFEGQVRQKVHIVSREAEAAEAEEPWGDEAREGRRRGPRRESKPEEPPPPKKPALDKGPGSGQSAGSGPPRKTSGTVSGTARGTEVSSAAQAPAPAASPPPEGPVLTFQSEKMKGMKELLVATKINSSAIKLQLTAQSQVQMKKQKVSTPSDYTLSFLKRQRKGL", "length": 610 }, "evidence": [ { "id": "45916548", "url": "http://www.informatics.jax.org/homology/45916548", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 21, "go_terms": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "response to gamma radiation", "id": "GO:0010332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010332", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "osteoblast development", "id": "GO:0002076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002076", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "response to UV", "id": "GO:0009411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009411", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "positive regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030511", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "transcription initiation-coupled chromatin remodeling", "id": "GO:0045815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045815", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "negative regulation of cyclin-dependent protein serine/threonine kinase activity", "id": "GO:0045736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045736", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "negative regulation of JNK cascade", "id": "GO:0046329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046329", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "negative regulation of cell cycle", "id": "GO:0045786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045786", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "T-helper 2 cell differentiation", "id": "GO:0045064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045064", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "negative regulation of DNA-binding transcription factor activity", "id": "GO:0043433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043433", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "negative regulation of telomerase activity", "id": "GO:0051974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051974", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 8, "go_terms": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "phosphoprotein binding", "id": "GO:0051219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051219", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "R-SMAD binding", "id": "GO:0070412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070412", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "four-way junction DNA binding", "id": "GO:0000400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000400", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "Y-form DNA binding", "id": "GO:0000403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000403", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 14, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "transcription repressor complex", "id": "GO:0017053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017053", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "cleavage furrow", "id": "GO:0032154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032154", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "histone methyltransferase complex", "id": "GO:0035097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035097", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "MLL1 complex", "id": "GO:0071339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071339", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" }, { "name": "MLL1/2 complex", "id": "GO:0044665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044665", "evidence": [ { "database": "UniProtKB", "id": "O00255", "url": "https://www.uniprot.org/uniprot/O00255" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 571, "end_pos": 573, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 332 ], "glycation_sites": [], "phosphorylation_sites": [ 122, 394, 399, 487, 543, 593, 594, 599 ], "sequon_annotation_sites": [ { "start_pos": 571, "end_pos": 573 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 8 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 318 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }