{ "uniprot_canonical_ac": "P06400-1", "uniprot_ac": "P06400", "uniprot_id": "RB_HUMAN", "mass": { "chemical_mass": 106159.0, "monoisotopic_mass": 106159.0 }, "refseq": { "ac": "NP_000312", "name": "retinoblastoma-associated protein isoform 1", "summary": "The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000312" }, "gene_names": [ { "name": "RB1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P06400", "id": "P06400" }, { "name": "OSRC; p105-Rb; p110-RB1; pp110; PPP1R130; pRb; RB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000312", "id": "NP_000312" }, { "name": "RB1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000312", "id": "NP_000312" } ], "protein_names": [ { "name": "Retinoblastoma-associated protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P06400" }, { "name": "Rb", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P06400" }, { "name": "p105-Rb", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P06400" }, { "name": "p110-RB1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P06400" }, { "name": "pRb", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P06400" }, { "name": "pp110", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P06400" }, { "name": "retinoblastoma-associated protein isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000312", "id": "NP_000312" }, { "name": "retinoblastoma-associated protein; prepro-retinoblastoma-associated protein; protein phosphatase 1, regulatory subunit 130; retinoblastoma suspectibility protein; retinoblastoma 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000312", "id": "NP_000312" } ], "function": [ { "annotation": "(Microbial infection) In case of viral infections, interactions with SV40 large T antigen, HPV E7 protein or adenovirus E1A protein induce the disassembly of RB1-E2F1 complex thereby disrupting RB1's activity.", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400#function" }, { "database": "PubMed", "id": "1316611", "url": "https://glygen.org/publication/PubMed/1316611" }, { "database": "PubMed", "id": "17974914", "url": "https://glygen.org/publication/PubMed/17974914" }, { "database": "PubMed", "id": "2839300", "url": "https://glygen.org/publication/PubMed/2839300" }, { "database": "PubMed", "id": "18701596", "url": "https://glygen.org/publication/PubMed/18701596" }, { "database": "PubMed", "id": "8892909", "url": "https://glygen.org/publication/PubMed/8892909" } ] }, { "annotation": "Diagnostic Utility of TSSC3 and RB1 Immunohistochemistry in Hydatidiform Mole. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000312", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000312" }, { "database": "PubMed", "id": "37298606", "url": "https://glygen.org/publication/PubMed/37298606" } ] }, { "annotation": "Effects of the Overexpression of Progesterone Receptors on a Precancer p53 and Rb-Defective Human Fallopian Tube Epithelial Cell Line. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000312", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000312" }, { "database": "PubMed", "id": "37511582", "url": "https://glygen.org/publication/PubMed/37511582" } ] }, { "annotation": "Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000312", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000312" }, { "database": "PubMed", "id": "37541786", "url": "https://glygen.org/publication/PubMed/37541786" } ] }, { "annotation": "Integrative analysis of multi-omics data reveals inhibition of RB1 signaling promotes apatinib resistance of hepatocellular carcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000312", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000312" }, { "database": "PubMed", "id": "37781033", "url": "https://glygen.org/publication/PubMed/37781033" } ] }, { "annotation": "NEIL3 promotes cell proliferation of ccRCC via the cyclin D1-Rb-E2F1 feedback loop regulation.", "evidence": [ { "database": "RefSeq", "id": "NP_000312", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000312" }, { "database": "PubMed", "id": "37992567", "url": "https://glygen.org/publication/PubMed/37992567" } ] }, { "annotation": "The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000312", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000312" } ] }, { "annotation": "Tumor suppressor that is a key regulator of the G1/S transition of the cell cycle (PubMed:10499802). The hypophosphorylated form binds transcription regulators of the E2F family, preventing transcription of E2F-responsive genes (PubMed:10499802). Both physically blocks E2Fs transactivating domain and recruits chromatin-modifying enzymes that actively repress transcription (PubMed:10499802). Cyclin and CDK-dependent phosphorylation of RB1 induces its dissociation from E2Fs, thereby activating transcription of E2F responsive genes and triggering entry into S phase (PubMed:10499802). RB1 also promotes the G0-G1 transition upon phosphorylation and activation by CDK3/cyclin-C (PubMed:15084261). Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation. Recruits and targets histone methyltransferases SUV39H1, KMT5B and KMT5C, leading to epigenetic transcriptional repression. Controls histone H4 'Lys-20' trimethylation. Inhibits the intrinsic kinase activity of TAF1. Mediates transcriptional repression by SMARCA4/BRG1 by recruiting a histone deacetylase (HDAC) complex to the c-FOS promoter. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400#function" }, { "database": "UniProtKB", "id": "P33568", "url": "https://www.uniprot.org/uniprot/P33568#function" }, { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprot/P13405#function" }, { "database": "PubMed", "id": "10499802", "url": "https://glygen.org/publication/PubMed/10499802" }, { "database": "PubMed", "id": "15084261", "url": "https://glygen.org/publication/PubMed/15084261" } ] } ], "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" } ], "evidence": [ { "id": "109800", "database": "MIM", "url": "https://www.omim.org/entry/109800" } ] }, { "disease_id": "DOID:3347", "recommended_name": { "id": "DOID:3347", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3347", "name": "osteosarcoma", "description": "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin." }, "synonyms": [ { "id": "DOID:3347", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3347", "name": "Osteogenic sarcoma", "description": "" }, { "id": "DOID:3347", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3347", "name": "Skeletal sarcoma", "description": "" }, { "id": "DOID:3347", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3347", "name": "bone tissue neoplasm", "description": "" }, { "id": "DOID:3347", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3347", "name": "osteoid sarcoma", "description": "" }, { "id": "MONDO:0002629", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002629", "name": "bone osteosarcoma", "description": "A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs." }, { "id": "MONDO:0002629", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002629", "name": "bone osteosarcoma", "description": "" }, { "id": "MONDO:0002629", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002629", "name": "osteosarcoma of bone", "description": "" }, { "id": "MONDO:0002629", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002629", "name": "osteosarcoma, somatic", "description": "" }, { "id": "MONDO:0002629", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002629", "name": "osteosarcoma, somatic mutation", "description": "" }, { "id": "MONDO:0002629", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002629", "name": "primary osteosarcoma of bone", "description": "" }, { "id": "MIM:259500", "resource": "MIM", "url": "https://www.omim.org/entry/259500", "name": "Osteogenic sarcoma", "description": "Osteogenic sarcoma" } ], "evidence": [ { "id": "259500", "database": "MIM", "url": "https://www.omim.org/entry/259500" } ] }, { "disease_id": "DOID:768", "recommended_name": { "id": "DOID:768", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:768", "name": "retinoblastoma", "description": "A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina." }, "synonyms": [ { "id": "DOID:768", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:768", "name": "RB", "description": "" }, { "id": "DOID:768", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:768", "name": "RB - Retinoblastoma", "description": "" }, { "id": "DOID:768", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:768", "name": "neuroblastoma of Retina", "description": "" }, { "id": "MONDO:0018160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018160", "name": "hereditary retinoblastoma", "description": "An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma." }, { "id": "MONDO:0018160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018160", "name": "RB1", "description": "" }, { "id": "MONDO:0018160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018160", "name": "familial retinoblastoma", "description": "" }, { "id": "MONDO:0018160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018160", "name": "hereditary retinoblastoma", "description": "" }, { "id": "MONDO:0018160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018160", "name": "retinoblastoma, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0018160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018160", "name": "retinoblastoma, trilateral, autosomal dominant, somatic mutation", "description": "" }, { "id": "MIM:180200", "resource": "MIM", "url": "https://www.omim.org/entry/180200", "name": "Childhood cancer retinoblastoma", "description": "Childhood cancer retinoblastoma" } ], "evidence": [ { "id": "180200", "database": "MIM", "url": "https://www.omim.org/entry/180200" } ] } ], "snv": [ { "evidence": [ { "id": "P06400", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P06400" } ], "glycoeffect": [], "start_pos": 455, "end_pos": 455, "subjects_tested": "412", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 out of 6 filters: DB annot. (1). In dbSNP: rs121913302.", "chr_id": "13", "chr_pos": "48379624", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R455", "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 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} ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "89.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000139687", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139687" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "87.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000139687", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139687" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "76.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000139687", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139687" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": 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"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 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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": "P06400", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06400" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06400" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPEQDSGPEDLPLVRLEFEETEEPDFTALCQKLKIPDHVRERAWLTWEKVSSVDGVLGGYIQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDTSTKVDNAMSRLLKKYDVLFALFSKLERTCELIYLTQPSSSISTEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCVLDYFIKLSPPMLLKEPYKTAVIPINGSPRTPRRGQNRSARIAKQLENDTRIIEVLCKEHECNIDEVKNVYFKNFIPFMNSLGLVTSNGLPEVENLSKRYEEIYLKNKDLDARLFLDHDKTLQTDSIDSFETQRTPRKSNLDEEVNVIPPHTPVRTVMNTIQQLMMILNSASDQPSENLISYFNNCTVNPKESILKRVKDIGYIFKEKFAKAVGQGCVEIGSQRYKLGVRLYYRVMESMLKSEEERLSIQNFSKLLNDNIFHMSLLACALEVVMATYSRSTSQNLDSGTDLSFPWILNVLNLKAFDFYKVIESFIKAEGNLTREMIKHLERCEHRIMESLAWLSDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKKKGSTTRVNSTANAETQATSAFQTQKPLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPELEHIIWTLFQHTLQNEYELMRDRHLDQIMMCSMYGICKVKNIDLKFKIIVTAYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSSPLRIPGGNIYISPLKSPYKISEGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIEGSDEADGSKHLPGESKFQQKLAEMTSTRTRMQKQKMNDSMDTSNKEEK", "length": 928, "header": "sp|P06400-1|RB_HUMAN Isoform 1 of Retinoblastoma-associated protein OS=Homo sapiens OX=9606 GN=RB1 PE=1 SV=2 CANONICAL=P06400-1" }, "isoforms": [ { "isoform_ac": "A0A2R8Y743-1", "url": "", "sequence": { "sequence": "XTSQNLDSGTDLSFPWILNVLNLKAFDFYKVIESFIKAEGNLTREMIKHLERCEHRIMESLAWLSVILPYPGERNVMQEAKKKLNKQAMMDSHLSLLPLGHVLFVQSHFY", "length": 110, "header": "tr|A0A2R8Y743-1|A0A2R8Y743_HUMAN Computationally mapped isoform of RB transcriptional corepressor 1 OS=Homo sapiens OX=9606 GN=RB1 PE=1 SV=1 CANONICAL=P06400-1" }, "locus": { "chromosome": "13", "start_pos": 48599436, "end_pos": 48381250, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000643064.1", "url": "https://www.ensembl.org/id/ENST00000643064.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496005.1", "url": "https://www.ensembl.org/id/ENSP00000496005.1" } ] } }, { "isoform_ac": "A0A2R8YFL6-1", "url": "", "sequence": { "sequence": "MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPEQDSGPEDLPLVRLEFEETEEPDFTALCQKLKIPDHVRERAWLTWEKVSSVDGVLVLRSPVFKPWLTMGN", "length": 103, "header": "tr|A0A2R8YFL6-1|A0A2R8YFL6_HUMAN Computationally mapped isoform of RB transcriptional corepressor 1 OS=Homo sapiens OX=9606 GN=RB1 PE=1 SV=1 CANONICAL=P06400-1" }, "locus": { "chromosome": "13", "start_pos": 48333061, "end_pos": 48303913, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000646097.1", "url": "https://www.ensembl.org/id/ENST00000646097.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496556.1", "url": "https://www.ensembl.org/id/ENSP00000496556.1" } ] } }, { "isoform_ac": "A0A3B3IS71-1", "url": "", "sequence": { "sequence": "MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPEQDSGPEDLPLVRLEFEETEEPDFTALCQKLKIPDHVRERAWLTWEKVSSVDGVLGGYIQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDTSTKVDNAMSRLLKKYDVLFALFSKLERTCELIYLTQPSSSISTEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCVLDYFIKLSPPMLLKEPYKTAVIPINGSPRTPRRGQNRSARIAKQLENDTRIIEVLCKEHECNIDEVKNVYFKNFIPFMNSLGLVTSNGLPEVENLSKRYEEIYLKNKDLDARLFLDHDKTLQTDSIDSFETQRTPRKSNLDEEVNVIPPHTPVRTVMNTIQQLMMILNSASDQPSENLISYFNNCTVNPKESILKRVKDIGYIFKEKFAKAVGQGCVEIGSQRYKLGVRLYYRVMESMLKSEEERLSIQNFSKLLNDNIFHMSLLACALEVVMATYSRSTSQNLDSGTDLSFPWILNVLNLKAFDFYKVIESFIKAEGNLTREMIKHLERCEHRIMESLAWLSDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKKKGSTTRVNSTANAETQATSAFQTQKPLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPELEHIIWTLFQHTLQNEYELMRDRHLDQIMMCSMYGICKVKNIDLKFKIIVTAYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSSPLRIPGGNIYISPLKSPYKISEGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIEGSDEADGSKHLPGESKFQQKLAEMILHPFSSFYSNTNAKAENE", "length": 923, "header": "tr|A0A3B3IS71-1|A0A3B3IS71_HUMAN Computationally mapped isoform of RB transcriptional corepressor 1 OS=Homo sapiens OX=9606 GN=RB1 PE=1 SV=1 CANONICAL=P06400-1" }, "locus": { "chromosome": "13", "start_pos": 48480034, "end_pos": 48303913, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000650461.1", "url": "https://www.ensembl.org/id/ENST00000650461.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497193.1", "url": "https://www.ensembl.org/id/ENSP00000497193.1" } ] } }, { "isoform_ac": "P06400-1", "url": "", "sequence": { "sequence": "MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPEQDSGPEDLPLVRLEFEETEEPDFTALCQKLKIPDHVRERAWLTWEKVSSVDGVLGGYIQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDTSTKVDNAMSRLLKKYDVLFALFSKLERTCELIYLTQPSSSISTEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCVLDYFIKLSPPMLLKEPYKTAVIPINGSPRTPRRGQNRSARIAKQLENDTRIIEVLCKEHECNIDEVKNVYFKNFIPFMNSLGLVTSNGLPEVENLSKRYEEIYLKNKDLDARLFLDHDKTLQTDSIDSFETQRTPRKSNLDEEVNVIPPHTPVRTVMNTIQQLMMILNSASDQPSENLISYFNNCTVNPKESILKRVKDIGYIFKEKFAKAVGQGCVEIGSQRYKLGVRLYYRVMESMLKSEEERLSIQNFSKLLNDNIFHMSLLACALEVVMATYSRSTSQNLDSGTDLSFPWILNVLNLKAFDFYKVIESFIKAEGNLTREMIKHLERCEHRIMESLAWLSDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKKKGSTTRVNSTANAETQATSAFQTQKPLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPELEHIIWTLFQHTLQNEYELMRDRHLDQIMMCSMYGICKVKNIDLKFKIIVTAYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSSPLRIPGGNIYISPLKSPYKISEGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIEGSDEADGSKHLPGESKFQQKLAEMTSTRTRMQKQKMNDSMDTSNKEEK", "length": 928, "header": "sp|P06400-1|RB_HUMAN Isoform 1 of Retinoblastoma-associated protein OS=Homo sapiens OX=9606 GN=RB1 PE=1 SV=2 CANONICAL=P06400-1" }, "locus": { "chromosome": "13", "start_pos": 48480068, "end_pos": 48303913, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000267163.6", "url": "https://www.ensembl.org/id/ENST00000267163.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000267163.4", "url": "https://www.ensembl.org/id/ENSP00000267163.4" } ] } }, { "isoform_ac": "Q92728-1", "url": "", "sequence": { "sequence": "MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPEQDSGPEDLPLVRGSITNGR", "length": 53, "header": "tr|Q92728-1|Q92728_HUMAN Computationally mapped isoform of Mutated retinoblastoma protein OS=Homo sapiens OX=9606 GN=RB1 PE=1 SV=1 CANONICAL=P06400-1" }, "locus": { "chromosome": "13", "start_pos": 48360038, "end_pos": 48303913, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000467505.5", "url": "https://www.ensembl.org/id/ENST00000467505.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000434702.1", "url": "https://www.ensembl.org/id/ENSP00000434702.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P06400", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06400" }, { "id": "20680651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20680651" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 230, "end_pos": 230, "kinase_uniprot_canonical_ac": "P24941-1", "kinase_gene_name": "CDK2", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06400", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06400" }, { "database": "PubMed", "id": "10207050", "url": "https://glygen.org/publication/PubMed/10207050" } ], "site_lbl": "Ser230" }, { "start_pos": 249, "end_pos": 249, "kinase_uniprot_canonical_ac": "P05771-1", "kinase_gene_name": "PRKCB", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06400", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06400" }, { "database": "PubMed", "id": "11805327", "url": "https://glygen.org/publication/PubMed/11805327" } ], "site_lbl": "Ser249" }, { "start_pos": 249, "end_pos": 249, "kinase_uniprot_canonical_ac": "P06493-1", "kinase_gene_name": "CDK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06400", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06400" }, { "database": "PubMed", "id": "1756735", "url": "https://glygen.org/publication/PubMed/1756735" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser249" }, { "start_pos": 249, "end_pos": 249, "kinase_uniprot_canonical_ac": "P11802-1", "kinase_gene_name": "CDK4", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06400", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06400" }, { "database": "PubMed", "id": "15809340", "url": "https://glygen.org/publication/PubMed/15809340" } ], "site_lbl": "Ser249" }, { "start_pos": 249, "end_pos": 249, "kinase_uniprot_canonical_ac": "P24941-1", "kinase_gene_name": "CDK2", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06400", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06400" }, { "database": "PubMed", "id": "10499802", "url": "https://glygen.org/publication/PubMed/10499802" }, { "database": "PubMed", "id": "1756735", "url": "https://glygen.org/publication/PubMed/1756735" }, { "database": "PubMed", "id": "8626527", "url": "https://glygen.org/publication/PubMed/8626527" }, { "database": "PubMed", "id": "9190208", "url": "https://glygen.org/publication/PubMed/9190208" } ], "site_lbl": "Ser249" }, { "start_pos": 249, "end_pos": 249, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by CDK1", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" }, { "database": "iPTMnet", "id": "P06400", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06400" }, { "database": "PubMed", "id": "27869121", "url": "" }, { "database": "PubMed", "id": "31848261", "url": "" }, { "database": "PubMed", "id": "22094256", "url": "https://glygen.org/publication/PubMed/22094256" }, { "database": "PubMed", "id": "9139732", "url": "https://glygen.org/publication/PubMed/9139732" }, { "database": "phospho.ELM", "id": "P06400", "url": "http://phospho.elm.eu.org/byAccession/P06400.html" }, { "database": "PubMed", "id": "1756735", "url": "https://glygen.org/publication/PubMed/1756735" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "21368870", "url": "https://glygen.org/publication/PubMed/21368870" }, { "database": "PubMed", "id": "22279936", "url": "https://glygen.org/publication/PubMed/22279936" }, { "database": "PubMed", "id": "23304241", "url": "https://glygen.org/publication/PubMed/23304241" }, { "database": "PubMed", "id": "24815188", "url": "https://glygen.org/publication/PubMed/24815188" }, { "database": "PubMed", "id": "27419601", "url": "https://glygen.org/publication/PubMed/27419601" }, { "database": "PubMed", "id": "29468545", "url": "https://glygen.org/publication/PubMed/29468545" }, { "database": "PubMed", "id": "33324635", "url": "https://glygen.org/publication/PubMed/33324635" }, { "database": "PubMed", "id": "36274096", "url": "" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ], "site_lbl": "Ser249" }, { "start_pos": 252, "end_pos": 252, "kinase_uniprot_canonical_ac": "P05771-1", "kinase_gene_name": "PRKCB", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06400", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06400" }, { "database": "PubMed", "id": "11805327", "url": "https://glygen.org/publication/PubMed/11805327" } ], "site_lbl": "Thr252" }, { "start_pos": 252, "end_pos": 252, "kinase_uniprot_canonical_ac": "P06493-1", "kinase_gene_name": "CDK1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06400", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06400" }, { "database": "PubMed", "id": "1756735", "url": "https://glygen.org/publication/PubMed/1756735" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr252" }, { "start_pos": 252, "end_pos": 252, "kinase_uniprot_canonical_ac": "P24941-1", "kinase_gene_name": "CDK2", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06400", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06400" }, { "database": "PubMed", "id": "10499802", "url": "https://glygen.org/publication/PubMed/10499802" }, { "database": "PubMed", "id": "1756735", "url": "https://glygen.org/publication/PubMed/1756735" }, { "database": "PubMed", "id": "8626527", "url": "https://glygen.org/publication/PubMed/8626527" }, { "database": "PubMed", "id": "9190208", "url": "https://glygen.org/publication/PubMed/9190208" } ], "site_lbl": "Thr252" }, { "start_pos": 252, "end_pos": 252, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine; by CDK1", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" }, { "database": "iPTMnet", "id": "P06400", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06400" }, { "database": "PubMed", "id": "22094256", "url": "https://glygen.org/publication/PubMed/22094256" }, { "database": "PubMed", "id": "9139732", "url": "https://glygen.org/publication/PubMed/9139732" }, { "database": "phospho.ELM", "id": "P06400", "url": "http://phospho.elm.eu.org/byAccession/P06400.html" }, { "database": "PubMed", "id": "1756735", "url": "https://glygen.org/publication/PubMed/1756735" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "21368870", "url": "https://glygen.org/publication/PubMed/21368870" }, { "database": "PubMed", "id": "22279936", "url": "https://glygen.org/publication/PubMed/22279936" }, { "database": "PubMed", "id": "23304241", "url": "https://glygen.org/publication/PubMed/23304241" }, { "database": "PubMed", "id": "24815188", "url": "https://glygen.org/publication/PubMed/24815188" }, { "database": "PubMed", "id": "27419601", "url": "https://glygen.org/publication/PubMed/27419601" }, { "database": "PubMed", "id": "33324635", "url": "https://glygen.org/publication/PubMed/33324635" }, { "database": "PubMed", "id": "36274096", "url": "" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ], "site_lbl": "Thr252" }, { "start_pos": 353, "end_pos": 353, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06400", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06400" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "phospho.ELM", "id": "P06400", "url": "http://phospho.elm.eu.org/byAccession/P06400.html" } ], "site_lbl": "Thr353" }, { "start_pos": 356, "end_pos": 356, 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"P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "protein localization to chromosome, centromeric region", "id": "GO:0071459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071459", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "negative regulation of transcription involved in G1/S transition of mitotic cell cycle", "id": "GO:0071930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071930", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "regulation of centromere complex assembly", "id": "GO:0090230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090230", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "negative regulation of myofibroblast differentiation", "id": "GO:1904761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904761", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "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": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "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": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "tissue homeostasis", "id": "GO:0001894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001894", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "negative regulation of protein kinase activity", "id": "GO:0006469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006469", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "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": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell proliferation", "id": "GO:0050680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050680", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "Ras protein signal transduction", "id": "GO:0007265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007265", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "negative regulation of protein serine/threonine kinase activity", "id": "GO:0071901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071901", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "negative regulation of glial cell proliferation", "id": "GO:0060253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060253", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "positive regulation of mitotic metaphase/anaphase transition", "id": "GO:0045842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045842", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "negative regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000134", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "striated muscle cell differentiation", "id": "GO:0051146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051146", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "glial cell proliferation", "id": "GO:0014009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014009", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "negative regulation 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pathway", "id": "GO:2001234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001234", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "positive regulation of macrophage differentiation", "id": "GO:0045651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045651", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "regulation of lipid kinase activity", "id": "GO:0043550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043550", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "positive regulation of transcription regulatory region DNA binding", "id": "GO:2000679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000679", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "positive regulation of collagen fibril organization", "id": "GO:1904028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904028", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "negative regulation of tau-protein kinase activity", "id": "GO:1902948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902948", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "cell morphogenesis involved in neuron differentiation", "id": "GO:0048667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048667", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": 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"database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "chromosome organization", "id": "GO:0051276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051276", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "neuron maturation", "id": "GO:0042551", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042551", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "epithelial cell proliferation", "id": "GO:0050673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050673", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" } ], "pmid": "" }, { "name": "sister chromatid biorientation", "id": "GO:0031134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031134", "evidence": [ { "database": "UniProtKB", "id": "P06400", 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} ], "ptm_annotation": [ { "annotation": "Acetylated during keratinocyte differentiation. Acetylation at Lys-873 and Lys-874 regulates subcellular localization. Can be deacetylated by SIRT1.", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" }, { "database": "PubMed", "id": "20940255", "url": "https://glygen.org/publication/PubMed/20940255" } ] }, { "annotation": "N-terminus is methylated by METTL11A/NTM1 (By similarity). Monomethylation at Lys-810 by SMYD2 enhances phosphorylation at Ser-807 and Ser-811, and promotes cell cycle progression. Monomethylation at Lys-860 by SMYD2 promotes interaction with L3MBTL1.", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" }, { "database": "PubMed", "id": "16360038", "url": "https://glygen.org/publication/PubMed/16360038" }, { "database": "PubMed", "id": "17380128", "url": "https://glygen.org/publication/PubMed/17380128" }, { "database": "PubMed", "id": "15809340", "url": "https://glygen.org/publication/PubMed/15809340" }, { "database": "PubMed", "id": "22787429", "url": "https://glygen.org/publication/PubMed/22787429" }, { "database": "PubMed", "id": "1756735", "url": "https://glygen.org/publication/PubMed/1756735" }, { "database": "PubMed", "id": "15084261", "url": "https://glygen.org/publication/PubMed/15084261" }, { "database": "PubMed", "id": "20870719", "url": "https://glygen.org/publication/PubMed/20870719" } ] }, { "annotation": "Phosphorylated by CDK6 and CDK4, and subsequently by CDK2 at Ser-567 in G1, thereby releasing E2F1 which is then able to activate cell growth. Dephosphorylated at the late M phase. SV40 large T antigen, HPV E7 and adenovirus E1A bind to the underphosphorylated, active form of pRb. Phosphorylation at Thr-821 and Thr-826 promotes interaction between the C-terminal domain C and the Pocket domain, and thereby inhibits interactions with heterodimeric E2F/DP transcription factor complexes. Dephosphorylated at Ser-795 by calcineruin upon calcium stimulation. CDK3/cyclin-C-mediated phosphorylation at Ser-807 and Ser-811 is required for G0-G1 transition. Phosphorylated by CDK1 and CDK2 upon TGFB1-mediated apoptosis.", "evidence": [ { "database": "UniProtKB", "id": "P06400", "url": "https://www.uniprot.org/uniprot/P06400" }, { "database": "PubMed", "id": "10499802", "url": "https://glygen.org/publication/PubMed/10499802" }, { "database": "PubMed", "id": "8114739", "url": "https://glygen.org/publication/PubMed/8114739" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 455, 488, 688 ], "glycation_sites": [], "phosphorylation_sites": [ 5, 37, 230, 249, 252, 353, 356, 373, 567, 601, 606, 608, 612, 624, 780, 788, 795, 805, 807, 811, 813, 821, 823, 826, 841, 855 ], "sequon_annotation_sites": [ { "start_pos": 247, "end_pos": 249 }, { "start_pos": 258, "end_pos": 260 }, { "start_pos": 269, "end_pos": 271 }, { "start_pos": 316, "end_pos": 318 }, { "start_pos": 406, "end_pos": 408 }, { "start_pos": 472, "end_pos": 474 }, { "start_pos": 541, "end_pos": 543 }, { "start_pos": 599, "end_pos": 601 }, { "start_pos": 623, "end_pos": 625 }, { "start_pos": 917, "end_pos": 919 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 71 }, { "field": "total_sites", "count": 26 } ], "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": 3 }, { "field": "total_sites", "count": 3 } ], "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": 3 }, { "field": "total_sites", "count": 3 } ], "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": 385 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }