{ "uniprot_canonical_ac": "O75581-1", "uniprot_ac": "O75581", "uniprot_id": "LRP6_HUMAN", "mass": { "chemical_mass": 180429.0, "monoisotopic_mass": 180429.0 }, "refseq": { "ac": "NP_002327", "name": "low-density lipoprotein receptor-related protein 6 isoform b precursor", "summary": "This gene encodes a member of the low density lipoprotein (LDL) receptor gene family. LDL receptors are transmembrane cell surface proteins involved in receptor-mediated endocytosis of lipoprotein and protein ligands. The protein encoded by this gene functions as a receptor or, with Frizzled, a co-receptor for Wnt and thereby transmits the canonical Wnt/beta-catenin signaling cascade. Through its interaction with the Wnt/beta-catenin signaling cascade this gene plays a role in the regulation of cell differentiation, proliferation, and migration and the development of many cancer types. This protein undergoes gamma-secretase dependent RIP- (regulated intramembrane proteolysis) processing but the precise locations of the cleavage sites have not been determined.[provided by RefSeq, Dec 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002327" }, "gene_names": [ { "name": "LRP6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75581", "id": "O75581" }, { "name": "ADCAD2; STHAG7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002327", "id": "NP_002327" }, { "name": "LRP6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002327", "id": "NP_002327" } ], "protein_names": [ { "name": "Low-density lipoprotein receptor-related protein 6", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75581" }, { "name": "LRP-6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75581" }, { "name": "low-density lipoprotein receptor-related protein 6 isoform b precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002327", "id": "NP_002327" }, { "name": "low-density lipoprotein receptor-related protein 6; LRP-6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002327", "id": "NP_002327" } ], "function": [ { "annotation": "A genetic variant of the Wnt receptor LRP6 accelerates synapse degeneration during aging and in Alzheimer's disease.", "evidence": [ { "database": "RefSeq", "id": "NP_002327", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002327" }, { "database": "PubMed", "id": "36638182", "url": "https://glygen.org/publication/PubMed/36638182" } ] }, { "annotation": "Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalosomes.", "evidence": [ { "database": "UniProtKB", "id": "F5H7J9", "url": "https://www.uniprot.org/uniprot/F5H7J9#function" }, { "database": "UniProtKB", "id": "PIRNR036314", "url": "https://www.uniprot.org/uniprot/PIRNR036314#function" }, { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581#function" }, { "database": "PubMed", "id": "17326769", "url": "https://glygen.org/publication/PubMed/17326769" }, { "database": "PubMed", "id": "16341017", "url": "https://glygen.org/publication/PubMed/16341017" }, { "database": "PubMed", "id": "19107203", "url": "https://glygen.org/publication/PubMed/19107203" }, { "database": "PubMed", "id": "19293931", "url": "https://glygen.org/publication/PubMed/19293931" }, { "database": "PubMed", "id": "11357136", "url": "https://glygen.org/publication/PubMed/11357136" }, { "database": "PubMed", "id": "15778503", "url": "https://glygen.org/publication/PubMed/15778503" }, { "database": "PubMed", "id": "19801552", "url": "https://glygen.org/publication/PubMed/19801552" }, { "database": "PubMed", "id": "11448771", "url": "https://glygen.org/publication/PubMed/11448771" }, { "database": "PubMed", "id": "16513652", "url": "https://glygen.org/publication/PubMed/16513652" }, { "database": "PubMed", "id": "17400545", "url": "https://glygen.org/publication/PubMed/17400545" }, { "database": "PubMed", "id": "28341812", "url": "https://glygen.org/publication/PubMed/28341812" } ] }, { "annotation": "LRP5-/6 gene polymorphisms and its association with risk of abnormal bone mass in postmenopausal women. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002327", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002327" }, { "database": "PubMed", "id": "37202775", "url": "https://glygen.org/publication/PubMed/37202775" } ] }, { "annotation": "LRP6/filamentous-actin signaling facilitates osteogenic commitment in mechanically induced periodontal ligament stem cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002327", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002327" }, { "database": "PubMed", "id": "36694134", "url": "https://glygen.org/publication/PubMed/36694134" } ] }, { "annotation": "Mutations in LRP6 highlight the role of WNT signaling in oral exostoses and dental anomalies.", "evidence": [ { "database": "RefSeq", "id": "NP_002327", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002327" }, { "database": "PubMed", "id": "35961235", "url": "https://glygen.org/publication/PubMed/35961235" } ] }, { "annotation": "Overexpression of circRNAs LRP6 in gestational diabetes mellitus predicts foetal malformation and intrauterine death.", "evidence": [ { "database": "RefSeq", "id": "NP_002327", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002327" }, { "database": "PubMed", "id": "36925229", "url": "https://glygen.org/publication/PubMed/36925229" } ] }, { "annotation": "This gene encodes a member of the low density lipoprotein (LDL) receptor gene family. LDL receptors are transmembrane cell surface proteins involved in receptor-mediated endocytosis of lipoprotein and protein ligands. The protein encoded by this gene functions as a receptor or, with Frizzled, a co-receptor for Wnt and thereby transmits the canonical Wnt/beta-catenin signaling cascade. Through its interaction with the Wnt/beta-catenin signaling cascade this gene plays a role in the regulation of cell differentiation, proliferation, and migration and the development of many cancer types. This protein undergoes gamma-secretase dependent RIP- (regulated intramembrane proteolysis) processing but the precise locations of the cleavage sites have not been determined.[provided by RefSeq, Dec 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_002327", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002327" } ] } ], "disease": [ { "disease_id": "DOID:3393", "recommended_name": { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles." }, "synonyms": [ { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "CHD", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "Coronary disease", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary arteriosclerosis", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary heart disease", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, type 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "Chds4", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "Chds2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform mole, recurrent, 2", "description": "Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene." }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "KHDC3L complete hydatidiform mole", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "complete hydatidiform mole caused by mutation in KHDC3L", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform Mole, recurrent, type 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform mole, recurrent, 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "HYDM2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform MOLE, recurrent, 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform Mole, complete", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, 1", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene." }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "CX3CR1 coronary artery disease", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary artery disease caused by mutation in CX3CR1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary artery disease, resistance to", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "Chds1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, 1", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene." }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "MEF2A coronary artery disease", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease caused by mutation in MEF2A", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, 1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, type 1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "ADCAD1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease with myocardial infarction", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant 2", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene." }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "LRP6 coronary artery disease", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease caused by mutation in LRP6", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery 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"https://monarchinitiative.org/disease/MONDO:0012788", "name": "coronary heart disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, type 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "Chds3", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "coronary heart disease, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "CHDS8", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "coronary heart disease, susceptibility to, 8", "description": "" }, { "id": "MIM:614293", "resource": "MIM", "url": "https://www.omim.org/entry/614293", "name": "Hydatidiform mole, recurrent, 2", "description": "Hydatidiform mole, recurrent, 2" }, { "id": "MIM:608320", "resource": "MIM", "url": "https://www.omim.org/entry/608320", "name": "Coronary artery disease, autosomal dominant, 1", "description": "Coronary artery disease, autosomal dominant, 1" }, { "id": "MIM:610947", "resource": "MIM", "url": "https://www.omim.org/entry/610947", "name": "Coronary artery disease, autosomal dominant, 2", "description": "Coronary artery disease, autosomal dominant, 2" } ], "evidence": [ { "id": "610947", "database": "MIM", "url": "https://www.omim.org/entry/610947" } ] }, { "disease_id": "MONDO:0014749", "recommended_name": { "id": "MONDO:0014749", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014749", "name": "tooth agenesis, selective, 7", "description": "Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene." }, "synonyms": [ { "id": "MONDO:0014749", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014749", "name": "LRP6 tooth agenesis", "description": "" }, { "id": "MONDO:0014749", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014749", "name": "STHAG7", "description": "" }, { "id": "MONDO:0014749", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014749", "name": "tooth agenesis caused by mutation in LRP6", "description": "" }, { "id": "MONDO:0014749", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014749", "name": "tooth 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"http://gnomad.broadinstitute.org/awesome?query=rs142845287" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 995, "end_pos": 995, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "12", "chr_pos": "12147375", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D995", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 1394, "end_pos": 1394, "sequence_org": "C", "sequence_mut": "A", "comment": "Some reduction of palmitoylation, little change in plasma membrane location in the presence of MESD nor in Wnt-signaling activity. Completely abolishes palmitoylation, no plasma membrane location, greatly reduced Wnt-signaling activity but no effect on ubiquitination; when associated with A-1399. Exhibits full Wnt-signaling activity and no change in plasma membrane location; when associated with A-1399 and R-1403.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "PubMed", "id": "18378904", "url": "https://glygen.org/publication/PubMed/18378904" } ] }, { "start_pos": 1399, "end_pos": 1399, "sequence_org": "C", "sequence_mut": "A", "comment": "Some reduction of palmitoylation, and little change in plasma membrane location in the presence of MESD nor in Wnt-signaling activity. Completely abolishes palmitoylation, no plasma membrane location, greatly reduced Wnt-signaling activity but no effect on ubiquitination; when associated with A-1394. Exhibits full Wnt-signaling activity and no change in plasma membrane location in the in presence of MESD; when associated with A-1394 and R-1403.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "PubMed", "id": "18378904", "url": "https://glygen.org/publication/PubMed/18378904" } ] }, { "start_pos": 1403, "end_pos": 1403, "sequence_org": "K", "sequence_mut": "R", "comment": "Abolishes ubiquitination, no change in plasma membrane location in the presence of MESD but greatly reduced Wnt-signaling activity. Exhibits full Wnt-signaling activity and no change in plasma membrane location; when associated with A-1394 and A-1399.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ] }, { "start_pos": 1420, "end_pos": 1420, "sequence_org": "S", "sequence_mut": "A", "comment": "Enhanced AXIN1 binding and increased beta-catenin activity by 2.2-fold. Further enhanced AXIN1 binding and increases beta-catenin activity by 3.3-fold; when associated with A-1430.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "PubMed", "id": "16513652", "url": "https://glygen.org/publication/PubMed/16513652" } ] }, { "start_pos": 1430, "end_pos": 1430, "sequence_org": "S", "sequence_mut": "A", "comment": "Enhanced AXIN1 binding. Further enhanced AXIN1 binding and increases beta-catenin activity by 3.3-fold; when associated with A-1420.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "PubMed", "id": "16513652", "url": "https://glygen.org/publication/PubMed/16513652" } ] }, { "start_pos": 1485, "end_pos": 1485, "sequence_org": "L", "sequence_mut": "A", "comment": "No change in the phosphorylation state of PPPSP motif. Some reduction in Wnt/beta-catenin signaling.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "PubMed", "id": "18362152", "url": "https://glygen.org/publication/PubMed/18362152" } ] }, { "start_pos": 1486, "end_pos": 1486, "sequence_org": "N", "sequence_mut": "A", "comment": "No change in the phosphorylation state of PPPSP motif. Increased Wnt/beta-catenin signaling.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "PubMed", "id": "18362152", "url": "https://glygen.org/publication/PubMed/18362152" } ] }, { "start_pos": 1487, "end_pos": 1487, "sequence_org": "P", "sequence_mut": "A", "comment": "No change in the phosphorylation state of PPPSP motif A. Greatly reduced Wnt/beta-catenin signaling.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "PubMed", "id": "18362152", "url": "https://glygen.org/publication/PubMed/18362152" } ] }, { "start_pos": 1487, "end_pos": 1487, "sequence_org": "P", "sequence_mut": "C", "comment": "No change in the phosphorylation state of PPPSP motif A. Greatly reduced Wnt/beta-catenin signaling.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "PubMed", "id": "18362152", "url": "https://glygen.org/publication/PubMed/18362152" } ] }, { "start_pos": 1488, "end_pos": 1488, "sequence_org": "P", "sequence_mut": "A", "comment": "No change in the phosphorylation state of PPPSP motif A. Greatly reduced Wnt/beta-catenin signaling.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "PubMed", "id": "18362152", "url": "https://glygen.org/publication/PubMed/18362152" } ] }, { "start_pos": 1489, "end_pos": 1489, "sequence_org": "P", "sequence_mut": "A", "comment": "No change in the phosphorylation state of PPPSP motif A. Greatly reduced Wnt/beta-catenin signaling.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "PubMed", "id": "18362152", "url": "https://glygen.org/publication/PubMed/18362152" } ] }, { "start_pos": 1490, "end_pos": 1490, "sequence_org": "S", "sequence_mut": "A", "comment": "Greatly reduced phosphorylation of PPPSP motif A. Greatly reduced Wnt/beta-catenin signaling.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "PubMed", "id": "18362152", "url": "https://glygen.org/publication/PubMed/18362152" } ] }, { "start_pos": 1490, "end_pos": 1490, "sequence_org": "S", "sequence_mut": "T", "comment": "Some loss of phosphorylation of PPPSP motif A. Little reduction in Wnt/beta-catenin signaling.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "PubMed", "id": "18362152", "url": "https://glygen.org/publication/PubMed/18362152" } ] }, { "start_pos": 1491, "end_pos": 1491, "sequence_org": "P", "sequence_mut": "A", "comment": "Greatly reduced phosphorylation of PPPSP motif A. Greatly reduced Wnt/beta-catenin signaling.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "PubMed", "id": "18362152", "url": "https://glygen.org/publication/PubMed/18362152" } ] }, { "start_pos": 1492, "end_pos": 1492, "sequence_org": "A", "sequence_mut": "G", "comment": "No change in the phosphorylation state of PPPSP motif A. Greatly reduced Wnt/beta-catenin signaling.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "PubMed", "id": "18362152", "url": "https://glygen.org/publication/PubMed/18362152" } ] }, { "start_pos": 1493, "end_pos": 1493, "sequence_org": "T", "sequence_mut": "A", "comment": "No change in the phosphorylation state of PPPSP motif A. Greatly reduced Wnt/beta-catenin signaling.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "PubMed", "id": "18362152", "url": "https://glygen.org/publication/PubMed/18362152" } ] }, { "start_pos": 1494, "end_pos": 1494, "sequence_org": "E", "sequence_mut": "A", "comment": "No change in the phosphorylation state of PPPSP motif A. Little reduction of Wnt/beta-catenin signaling.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "PubMed", "id": "18362152", "url": "https://glygen.org/publication/PubMed/18362152" } ] }, { "start_pos": 1495, "end_pos": 1495, "sequence_org": "R", "sequence_mut": "A", "comment": "No change in the phosphorylation state of PPPSP motif. No reduction of Wnt/beta-catenin signaling.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "PubMed", "id": "18362152", "url": "https://glygen.org/publication/PubMed/18362152" } ] }, { "start_pos": 1529, "end_pos": 1529, "sequence_org": "T", "sequence_mut": "A", "comment": "No effect on the phosphorylation state of PPPSP motif B.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "PubMed", "id": "18362152", "url": "https://glygen.org/publication/PubMed/18362152" } ] }, { "start_pos": 1530, "end_pos": 1530, "sequence_org": "T", "sequence_mut": "A", "comment": "Abolishes phosphorylation of PPPSP motif B. Reduced Wnt/beta-catenin signaling.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "PubMed", "id": "18362152", "url": "https://glygen.org/publication/PubMed/18362152" } ] }, { "start_pos": 1531, "end_pos": 1531, "sequence_org": "P", "sequence_mut": "A", "comment": "Abolishes phosphorylation of PPPSP motif B. Reduced Wnt/beta-catenin signaling.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "PubMed", "id": "18362152", "url": "https://glygen.org/publication/PubMed/18362152" } ] }, { "start_pos": 1572, "end_pos": 1572, "sequence_org": "T", "sequence_mut": "A", "comment": "Abolishes Wnt/beta-catenin signaling.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "PubMed", "id": "18362152", "url": "https://glygen.org/publication/PubMed/18362152" } ] }, { "start_pos": 1590, "end_pos": 1590, "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes Wnt/beta-catenin signaling.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "PubMed", "id": "18362152", "url": "https://glygen.org/publication/PubMed/18362152" } ] }, { "start_pos": 1607, "end_pos": 1607, "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes Wnt/beta-catenin signaling.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "PubMed", "id": "18362152", "url": "https://glygen.org/publication/PubMed/18362152" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "79.4", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000070018", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070018" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "76.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000070018", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070018" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "88.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000070018", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070018" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "88.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000070018", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070018" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "82.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000070018", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070018" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "82.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000070018", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070018" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "84.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000070018", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070018" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "82.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000070018", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070018" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "83.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000070018", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070018" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "83.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000070018", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070018" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "94.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000070018", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070018" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "80.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000070018", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070018" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "81.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000070018", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070018" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75581", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75581" } ], "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": "O75581", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75581" } ], "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": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75581", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75581" } ], "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": 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"R-HSA-4641263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4641263", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5340588", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5340588", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_002327", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002327", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "F5H0Z3", "url": "https://www.uniprot.org/uniprot/F5H0Z3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H0Z3-1", "url": "https://www.uniprot.org/uniprot/F5H0Z3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H7J9", "url": "https://www.uniprot.org/uniprot/F5H7J9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H7J9-1", "url": "https://www.uniprot.org/uniprot/F5H7J9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YGH0", "url": "https://www.uniprot.org/uniprot/H0YGH0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YGH0-1", "url": "https://www.uniprot.org/uniprot/H0YGH0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YGW5", "url": "https://www.uniprot.org/uniprot/H0YGW5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YGW5-1", "url": "https://www.uniprot.org/uniprot/H0YGW5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75581-1", "url": "https://www.uniprot.org/uniprot/O75581-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGAVLRSLLACSFCVLLRAAPLLLYANRRDLRLVDATNGKENATIVVGGLEDAAAVDFVFSHGLIYWSDVSEEAIKRTEFNKTESVQNVVVSGLLSPDGLACDWLGEKLYWTDSETNRIEVSNLDGSLRKVLFWQELDQPRAIALDPSSGFMYWTDWGEVPKIERAGMDGSSRFIIINSEIYWPNGLTLDYEEQKLYWADAKLNFIHKSNLDGTNRQAVVKGSLPHPFALTLFEDILYWTDWSTHSILACNKYTGEGLREIHSDIFSPMDIHAFSQQRQPNATNPCGIDNGGCSHLCLMSPVKPFYQCACPTGVKLLENGKTCKDGATELLLLARRTDLRRISLDTPDFTDIVLQLEDIRHAIAIDYDPVEGYIYWTDDEVRAIRRSFIDGSGSQFVVTAQIAHPDGIAVDWVARNLYWTDTGTDRIEVTRLNGTMRKILISEDLEEPRAIVLDPMVGYMYWTDWGEIPKIERAALDGSDRVVLVNTSLGWPNGLALDYDEGKIYWGDAKTDKIEVMNTDGTGRRVLVEDKIPHIFGFTLLGDYVYWTDWQRRSIERVHKRSAEREVIIDQLPDLMGLKATNVHRVIGSNPCAEENGGCSHLCLYRPQGLRCACPIGFELISDMKTCIVPEAFLLFSRRADIRRISLETNNNNVAIPLTGVKEASALDFDVTDNRIYWTDISLKTISRAFMNGSALEHVVEFGLDYPEGMAVDWLGKNLYWADTGTNRIEVSKLDGQHRQVLVWKDLDSPRALALDPAEGFMYWTEWGGKPKIDRAAMDGSERTTLVPNVGRANGLTIDYAKRRLYWTDLDTNLIESSNMLGLNREVIADDLPHPFGLTQYQDYIYWTDWSRRSIERANKTSGQNRTIIQGHLDYVMDILVFHSSRQSGWNECASSNGHCSHLCLAVPVGGFVCGCPAHYSLNADNRTCSAPTTFLLFSQKSAINRMVIDEQQSPDIILPIHSLRNVRAIDYDPLDKQLYWIDSRQNMIRKAQEDGSQGFTVVVSSVPSQNLEIQPYDLSIDIYSRYIYWTCEATNVINVTRLDGRSVGVVLKGEQDRPRAVVVNPEKGYMYFTNLQERSPKIERAALDGTEREVLFFSGLSKPIALALDSRLGKLFWADSDLRRIESSDLSGANRIVLEDSNILQPVGLTVFENWLYWIDKQQQMIEKIDMTGREGRTKVQARIAQLSDIHAVKELNLQEYRQHPCAQDNGGCSHICLVKGDGTTRCSCPMHLVLLQDELSCGEPPTCSPQQFTCFTGEIDCIPVAWRCDGFTECEDHSDELNCPVCSESQFQCASGQCIDGALRCNGDANCQDKSDEKNCEVLCLIDQFRCANGQCIGKHKKCDHNVDCSDKSDELDCYPTEEPAPQATNTVGSVIGVIVTIFVSGTVYFICQRMLCPRMKGDGETMTNDYVVHGPASVPLGYVPHPSSLSGSLPGMSRGKSMISSLSIMGGSSGPPYDRAHVTGASSSSSSSTKGTYFPAILNPPPSPATERSHYTMEFGYSSNSPSTHRSYSYRPYSYRHFAPPTTPCSTDVCDSDYAPSRRMTSVATAKGYTSDLNYDSEPVPPPPTPRSQYLSAEENYESCPPSPYTERSYSHHLYPPPPSPCTDSS", "length": 1613, "header": "sp|O75581-1|LRP6_HUMAN Isoform 1 of Low-density lipoprotein receptor-related protein 6 OS=Homo sapiens OX=9606 GN=LRP6 PE=1 SV=2 CANONICAL=O75581-1" }, "isoforms": [ { "isoform_ac": "F5H0Z3-1", "url": "", "sequence": { "sequence": "MYWTDWGEVPKIERAGMDGSSRFIIINSEIYWPNGLTLDYEEQKLYWADAKLNFIHKSNLDGTNRQAVVKGSLPH", "length": 75, "header": "tr|F5H0Z3-1|LRP6_HUMAN Computationally mapped isoform of Low-density lipoprotein receptor-related protein 6 OS=Homo sapiens OX=9606 GN=LRP6 PE=1 SV=1 CANONICAL=O75581-1" }, "locus": { "chromosome": "HG1362_PATCH", "start_pos": 172394, "end_pos": 156087, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000626182", "url": "https://www.ensembl.org/id/ENST00000626182" }, { "database": "Ensembl Peptide", "id": "ENSP00000486383", "url": "https://www.ensembl.org/id/ENSP00000486383" } ] } }, { "isoform_ac": "F5H7J9-1", "url": "", "sequence": { "sequence": "MGAVLRSLLACSFCVLLRAAPLLLYANRRDLRLVDATNGKENATIVVGGLEDAAAVDFVFSHGLIYWSDVSEEAIKRTEFNKTESVQNVVVSGLLSPDGLACDWLGEKLYWTDSETNRIEVSNLDGSLRKVLFWQELDQPRAIALDPSSGFMYWTDWGEVPKIERAGMDGSSRFIIINSEIYWPNGLTLDYEEQKLYWADAKLNFIHKSNLDGTNRQAVVKGSLPHPFALTLFEDILYWTDWSTHSILACNKYTGEGLREIHSDIFSPMDIHAFSQQRQPNATNPCGIDNGGCSHLCLMSPVKPFYQCACPTGVKLLENGKTCKDGATELLLLARRTDLRRISLDTPDFTDIVLQLEDIRHAIAIDYDPVEGYIYWTDDEVRAIRRSFIDGSGSQFVVTAQIAHPDGIAVDWVARNLYWTDTGTDRIEVTRLNGTMRKILISEDLEEPRAIVLDPMVGYMYWTDWGEIPKIERAALDGSDRVVLVNTSLGWPNGLALDYDEGKIYWGDAKTDKIEVMNTDGTGRRVLVEDKIPHIFGFTLLGDYVYWTDWQRRSIERVHKRSAEREVIIDQLPDLMGLKATNVHRVIGSNPCAEENGGCSHLCLYRPQGLRCACPIGFELISDMKTCIVPEAFLLFSRRADIRRISLETNNNNVAIPLTGVKEASALDFDVTDNRIYWTDISLKTISRAFMNGSALEHVVEFGLDYPEGMAVDWLGKNLYWADTGTNRIEVSKLDGQHRQVLVWKDLDSPRALALDPAEGFMYWTEWGGKPKIDRAAMDGSERTTLVPNVGRANGLTIDYAKRRLYWTDLDTNLIESSNMLGLNREVIADDLPHPFGLTQYQDYIYWTDWSRRSIERANKTSGQNRTIIQGHLDYVMDILVFHSSRQSGWNECASSNGHCSHLCLAVPVGGFVCGCPAHYSLNADNRTCSAPTTFLLFSQKSAINRMVIDEQQSPDIILPIHSLRNVRAIDYDPLDKQLYWIDSRQNMIRKAQEDGSQGFTVVVSSVPSQNLEIQPYDLSIDIYSRYIYWTCEATNVINVTRLDGRSVGVVLKGEQDRPRAVVVNPEKGYMYFTNLQERSPKIERAALDGTEREVLFFSGLSKPIALALDSRLGKLFWADSDLRRIESSDLSGANRIVLEDSNILQPVGLTVFENWLYWIDKQQQMIEKIDMTGREGRTKVQARIAQLSDIHAVKELNLQEYRQHPCAQDNGGCSHICLVKGDGTTRCSCPMHLVLLQDELSCGESQFQCASGQCIDGALRCNGDANCQDKSDEKNCEVLCLIDQFRCANGQCIGKHKKCDHNVDCSDKSDELDCYPTEEPAPQATNTVGSVIGVIVTIFVSGTVYFICQRMLCPRMKGDGETMTNDYVVHGPASVPLGYVPHPSSLSGSLPGMSRGKSMISSLSIMGGSSGPPYDRAHVTGASSSSSSSTKGTYFPAILNPPPSPATERSHYTMEFGYSSNSPSTHRSYSYRPYSYRHFAPPTTPCSTDVCDSDYAPSRRMTSVATAKGYTSDLNYDSEPVPPPPTPRSQYLSAEENYESCPPSPYTERSYSHHLYPPPPSPCTDSS", "length": 1568, "header": "tr|F5H7J9-1|LRP6_HUMAN Computationally mapped isoform of Low-density lipoprotein receptor-related protein 6 OS=Homo sapiens OX=9606 GN=LRP6 PE=1 SV=1 CANONICAL=O75581-1" }, "locus": { "chromosome": "12", "start_pos": 12266735, "end_pos": 12121129, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000543091.1", "url": "https://www.ensembl.org/id/ENST00000543091.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000442472.1", "url": "https://www.ensembl.org/id/ENSP00000442472.1" } ] } }, { "isoform_ac": "H0YGH0-1", "url": "", "sequence": { "sequence": "NCEVLCLIDQFRCANGQCIGKHKKCDHNVDCSDKSDELDCYFEPSTIPSHRAITLHYGIWIFFKQSFHS", "length": 69, "header": "tr|H0YGH0-1|LRP6_HUMAN Computationally mapped isoform of Low-density lipoprotein receptor-related protein 6 OS=Homo sapiens OX=9606 GN=LRP6 PE=1 SV=1 CANONICAL=O75581-1" }, "locus": { "chromosome": "HG1362_PATCH", "start_pos": 100828, "end_pos": 93575, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000626957", "url": "https://www.ensembl.org/id/ENST00000626957" }, { "database": "Ensembl Peptide", "id": "ENSP00000486758", "url": "https://www.ensembl.org/id/ENSP00000486758" } ] } }, { "isoform_ac": "H0YGW5-1", "url": "", "sequence": { "sequence": "XLDQPRAIALDPSSGFMYWTDWGEVPKIERAGMDGSSRFIIINSEIYWPNGLTLDYEEQKLYWADAKLNFIHKSNLDGTNRQAVVKGSLPHPFALTLFEDILYWTDWSTHSILACNKYTGEGLREIHSDIFSPMDIHAFSQQRQPNATNPCGIDNGGCSHLCLMSPVKPFYQCACPTGVKLLENGKTCKDGATELLLLARRTDLRRISLDTPDFTDIVLQLEDIRHAIAIDYDPVEGYIYWTDDEVRAIRRSFIDGSGSQFVVTAQIAHPDGIAVDWVARNLYWTDTGTDRIEVTRLNGTMRKILISEDLEEPRAIVLDPMVGYMYWTDWGEIPKIERAALDGSDRVVLVNTSLGWPNGLALDYDEGKIYWGDAKTDKIEVMNTDGTGRRVLVEDKIPHIFGFTLLGDYVYWTDWQRRSIERVHKRSAEREVIIDQLPDLMGLKATNVHRVIGSNPCAEENGGCSHLCLYRPQGLRCACPIGFELISDMKTCIVPEAFLLFSRRADIRRISLETNNNNVAIPLTGVKEASALDFDVTDNRIYWTDISLKTISRAFMNGSALEHVVEFGLDYPEGMAVDWLGKNLYWADTGTNRIEVSKLDGQHRQVLVWKDLDSPRALALDPAEGFMYWTEWGGKPKIDRAAMDGSERTTLVPNVGRANGLTIDYAKRRLYWTDLDTNLIESSNMLGLNREVIADDLPHPFGLTQYQDYIYWTDWSRRSIERANKTSGQNRTIIQGHLDYVMDILVFHSSRQSGWNECASSNGHCSHLCLAVPVGGFVCGCPAHYSLNADNRTCSAPTTFLLFSQKSAINRMVIDEQQSPDIILPIHSLRNVRAIDYDPLDKQLYWIDSRQNMIRKAQEDGSQGFTVVVSSVPSQNLEIQPYDLSIDIYSRYIYWTCEATNVINVTRLDGRSVGVVLKGEQDRPRAVVVNPEKGYMYFTNLQERSPKIERAALDGTEREVLFFSGLSKPIALALDSRLGKLFWADSDLRRIESSDLSGANRIVLEDSNILQPVGLTVFENWLYWIDKQQQMIEKIDMTGREGRTKVQARIAQLSDIHAVKELNLQEYRQHPCAQDNGGCSHICLVKGDGTTRCSCPMHLVLLQDELSCGEPPTCSPQQFTCFTGEIDCIPVAWRCDGFTECEDHSDELNCPVCSESQFQCASGQCIDGALRCNGDANCQDKSDEKNCEVLCLIDQFRCANGQCIGKHKKCDHNVDCSDKSDELDCYPTEEPAPQATNTVGSVIGVIVTIFVSGTVYFICQRMLCPRMKGDGETMTNDYVVHGPASVPLGYVPHPSSLSGSLPGMSRGKSMISSLSIMGGSSGPPYDRAHVTGASSSSSSSTKGTYFPAILNPPPSPATERSHYTMEFGYSSNSPSTHRSYSYRPYSYRHFAPPTTPCSTDVCDSDYAPSRRMTSVATAKGYTSDLNYDSEPVPPPPTPRSQYLSAEENYESCPPSPYTERSYSHHLYPPPPSPCTDSS", "length": 1478, "header": "tr|H0YGW5-1|LRP6_HUMAN Computationally mapped isoform of Low-density lipoprotein receptor-related protein 6 OS=Homo sapiens OX=9606 GN=LRP6 PE=1 SV=1 CANONICAL=O75581-1" }, "locus": { "chromosome": "HG1362_PATCH", "start_pos": 213302, "end_pos": 90126, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000625211", "url": "https://www.ensembl.org/id/ENST00000625211" }, { "database": "Ensembl Peptide", "id": "ENSP00000487008", "url": "https://www.ensembl.org/id/ENSP00000487008" } ] } }, { "isoform_ac": "O75581-1", "url": "", "sequence": { "sequence": "MGAVLRSLLACSFCVLLRAAPLLLYANRRDLRLVDATNGKENATIVVGGLEDAAAVDFVFSHGLIYWSDVSEEAIKRTEFNKTESVQNVVVSGLLSPDGLACDWLGEKLYWTDSETNRIEVSNLDGSLRKVLFWQELDQPRAIALDPSSGFMYWTDWGEVPKIERAGMDGSSRFIIINSEIYWPNGLTLDYEEQKLYWADAKLNFIHKSNLDGTNRQAVVKGSLPHPFALTLFEDILYWTDWSTHSILACNKYTGEGLREIHSDIFSPMDIHAFSQQRQPNATNPCGIDNGGCSHLCLMSPVKPFYQCACPTGVKLLENGKTCKDGATELLLLARRTDLRRISLDTPDFTDIVLQLEDIRHAIAIDYDPVEGYIYWTDDEVRAIRRSFIDGSGSQFVVTAQIAHPDGIAVDWVARNLYWTDTGTDRIEVTRLNGTMRKILISEDLEEPRAIVLDPMVGYMYWTDWGEIPKIERAALDGSDRVVLVNTSLGWPNGLALDYDEGKIYWGDAKTDKIEVMNTDGTGRRVLVEDKIPHIFGFTLLGDYVYWTDWQRRSIERVHKRSAEREVIIDQLPDLMGLKATNVHRVIGSNPCAEENGGCSHLCLYRPQGLRCACPIGFELISDMKTCIVPEAFLLFSRRADIRRISLETNNNNVAIPLTGVKEASALDFDVTDNRIYWTDISLKTISRAFMNGSALEHVVEFGLDYPEGMAVDWLGKNLYWADTGTNRIEVSKLDGQHRQVLVWKDLDSPRALALDPAEGFMYWTEWGGKPKIDRAAMDGSERTTLVPNVGRANGLTIDYAKRRLYWTDLDTNLIESSNMLGLNREVIADDLPHPFGLTQYQDYIYWTDWSRRSIERANKTSGQNRTIIQGHLDYVMDILVFHSSRQSGWNECASSNGHCSHLCLAVPVGGFVCGCPAHYSLNADNRTCSAPTTFLLFSQKSAINRMVIDEQQSPDIILPIHSLRNVRAIDYDPLDKQLYWIDSRQNMIRKAQEDGSQGFTVVVSSVPSQNLEIQPYDLSIDIYSRYIYWTCEATNVINVTRLDGRSVGVVLKGEQDRPRAVVVNPEKGYMYFTNLQERSPKIERAALDGTEREVLFFSGLSKPIALALDSRLGKLFWADSDLRRIESSDLSGANRIVLEDSNILQPVGLTVFENWLYWIDKQQQMIEKIDMTGREGRTKVQARIAQLSDIHAVKELNLQEYRQHPCAQDNGGCSHICLVKGDGTTRCSCPMHLVLLQDELSCGEPPTCSPQQFTCFTGEIDCIPVAWRCDGFTECEDHSDELNCPVCSESQFQCASGQCIDGALRCNGDANCQDKSDEKNCEVLCLIDQFRCANGQCIGKHKKCDHNVDCSDKSDELDCYPTEEPAPQATNTVGSVIGVIVTIFVSGTVYFICQRMLCPRMKGDGETMTNDYVVHGPASVPLGYVPHPSSLSGSLPGMSRGKSMISSLSIMGGSSGPPYDRAHVTGASSSSSSSTKGTYFPAILNPPPSPATERSHYTMEFGYSSNSPSTHRSYSYRPYSYRHFAPPTTPCSTDVCDSDYAPSRRMTSVATAKGYTSDLNYDSEPVPPPPTPRSQYLSAEENYESCPPSPYTERSYSHHLYPPPPSPCTDSS", "length": 1613, "header": "sp|O75581-1|LRP6_HUMAN Isoform 1 of Low-density lipoprotein receptor-related protein 6 OS=Homo sapiens OX=9606 GN=LRP6 PE=1 SV=2 CANONICAL=O75581-1" }, "locus": { "chromosome": "HG1362_PATCH", "start_pos": 235733, "end_pos": 90127, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000628182.3", "url": "https://www.ensembl.org/id/ENST00000628182.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000486315.1", "url": "https://www.ensembl.org/id/ENSP00000486315.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1039, "start_aa": "Asn", "end_pos": 1039, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1039", "evidence": [ { "id": "O75581", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75581#ptm_processing" }, { "id": "22000856", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22000856" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1312, "start_aa": "Asn", "end_pos": 1312, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1312", "evidence": [ { "id": "3S8Z", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3S8Z" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1486, "start_aa": "Asn", "end_pos": 1486, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1486", "evidence": [ { "id": "3S2K", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3S2K" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 281, "start_aa": "Asn", "end_pos": 281, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn281", "evidence": [ { "id": "O75581", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75581#ptm_processing" }, { "id": "4DG6", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/4DG6" }, { "id": "5GJE", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5GJE" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "O75581", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75581#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 433, "start_aa": "Asn", "end_pos": 433, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn433", "evidence": [ { "id": "O75581", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75581#ptm_processing" }, { "id": "4DG6", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/4DG6" }, { "id": "5GJE", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5GJE" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 486, "start_aa": "Asn", "end_pos": 486, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn486", "evidence": [ { "id": "O75581", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75581#ptm_processing" }, { "id": "4DG6", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/4DG6" }, { "id": "5GJE", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5GJE" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 692, "start_aa": "Asn", "end_pos": 692, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn692", "evidence": [ { "id": "O75581", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75581#ptm_processing" }, { "id": "22000856", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22000856" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 81, "start_aa": "Asn", "end_pos": 81, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn81", "evidence": [ { "id": "O75581", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75581#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 859, "start_aa": "Asn", "end_pos": 859, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn859", "evidence": [ { "id": "O75581", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75581#ptm_processing" }, { "id": "22000856", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22000856" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 865, "start_aa": "Asn", "end_pos": 865, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn865", "evidence": [ { "id": "O75581", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75581#ptm_processing" }, { "id": "22000856", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22000856" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 926, "start_aa": "Asn", "end_pos": 926, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn926", "evidence": [ { "id": "O75581", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75581#ptm_processing" }, { "id": "22000856", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22000856" } ] } ], "phosphorylation": [ { "start_pos": 122, "end_pos": 122, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75581", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75581" }, { "database": "PubMed", "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923" } ], "site_lbl": "Ser122" }, { "start_pos": 127, "end_pos": 127, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75581", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75581" }, { "database": "PubMed", "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923" } ], "site_lbl": "Ser127" }, { "start_pos": 1420, "end_pos": 1420, "kinase_uniprot_canonical_ac": "P49674-1", "kinase_gene_name": "CSNK1E", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75581", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75581" }, { "database": "PubMed", "id": "16513652", "url": "https://glygen.org/publication/PubMed/16513652" } ], "site_lbl": "Ser1420" }, { "start_pos": 1420, "end_pos": 1420, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by CK1", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "iPTMnet", "id": "O75581", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75581" }, { "database": "PubMed", "id": "16513652", "url": "https://glygen.org/publication/PubMed/16513652" } ], "site_lbl": "Ser1420" }, { "start_pos": 1430, "end_pos": 1430, "kinase_uniprot_canonical_ac": "P49674-1", "kinase_gene_name": "CSNK1E", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75581", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75581" }, { "database": "PubMed", "id": "16513652", "url": "https://glygen.org/publication/PubMed/16513652" } ], "site_lbl": "Ser1430" }, { "start_pos": 1430, "end_pos": 1430, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by CK1", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "iPTMnet", "id": "O75581", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75581" }, { "database": "PubMed", "id": "16513652", "url": "https://glygen.org/publication/PubMed/16513652" } ], "site_lbl": "Ser1430" }, { "start_pos": 1448, "end_pos": 1448, "kinase_uniprot_canonical_ac": "P34947-1", "kinase_gene_name": "GRK5", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75581", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75581" }, { "database": "PubMed", "id": "19801552", "url": "https://glygen.org/publication/PubMed/19801552" } ], "site_lbl": "Ser1448" }, { "start_pos": 1448, "end_pos": 1448, "kinase_uniprot_canonical_ac": "P43250-1", "kinase_gene_name": "GRK6", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75581", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75581" }, { "database": "PubMed", "id": "19801552", "url": "https://glygen.org/publication/PubMed/19801552" } ], "site_lbl": "Ser1448" }, { "start_pos": 1450, "end_pos": 1450, "kinase_uniprot_canonical_ac": "P34947-1", "kinase_gene_name": "GRK5", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75581", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75581" }, { "database": "PubMed", "id": "19801552", "url": "https://glygen.org/publication/PubMed/19801552" } ], "site_lbl": "Ser1450" }, { "start_pos": 1479, "end_pos": 1479, "kinase_uniprot_canonical_ac": "Q9HCP0-1", "kinase_gene_name": "CSNK1G1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75581", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75581" }, { "database": "PubMed", "id": "16341016", "url": "https://glygen.org/publication/PubMed/16341016" } ], "site_lbl": "Thr1479" }, { "start_pos": 1479, "end_pos": 1479, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "PubMed", "id": "17569865", "url": "https://glygen.org/publication/PubMed/17569865" }, { "database": "iPTMnet", "id": "O75581", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75581" }, { "database": "PubMed", "id": "18762581", "url": "https://glygen.org/publication/PubMed/18762581" }, { "database": "PubMed", "id": "18772438", "url": "https://glygen.org/publication/PubMed/18772438" }, { "database": "PubMed", "id": "22246988", "url": "https://glygen.org/publication/PubMed/22246988" } ], "site_lbl": "Thr1479" }, { "start_pos": 1490, "end_pos": 1490, "kinase_uniprot_canonical_ac": "O94921-1", "kinase_gene_name": "CDK14", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75581", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75581" }, { "database": "PubMed", "id": "20059949", "url": "https://glygen.org/publication/PubMed/20059949" } ], "site_lbl": "Ser1490" }, { "start_pos": 1490, "end_pos": 1490, "kinase_uniprot_canonical_ac": "P34947-1", "kinase_gene_name": "GRK5", "residue": "Ser", "comment": "", "evidence": [ { "database": 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independently of dishevelled.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Li L, Mao J, Sun L, Liu W, Wu D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3772470", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3772470" } ], "reference": [ { "type": "PubMed", "id": "11742004", "url": "https://glygen.org/publication/PubMed/11742004" } ] }, { "title": "Glycogen synthase kinase-3 beta mutagenesis identifies a common binding domain for GBP and Axin.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Ferkey DM, Kimelman D", "evidence": [ { "database": "Reactome", "id": "R-HSA-4641262", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4641262" } ], "reference": [ { "type": "PubMed", "id": "11861647", "url": "https://glygen.org/publication/PubMed/11861647" } ] }, { "title": "Kremen proteins are Dickkopf receptors that regulate Wnt/beta-catenin signalling.", "journal": "Nature", "date": "2002", "authors": 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"https://glygen.org/publication/PubMed/36694134" } ] }, { "title": "Overexpression of circRNAs LRP6 in gestational diabetes mellitus predicts foetal malformation and intrauterine death.", "journal": "Endocrinologia, diabetes y nutricion", "date": "2023-02", "authors": "Hao Hairong, Liu Qun, Chen Jianhui, Zhou Huan", "evidence": [ { "database": "RefSeq", "id": "NP_002327", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002327" } ], "reference": [ { "type": "PubMed", "id": "36925229", "url": "https://glygen.org/publication/PubMed/36925229" } ] }, { "title": "LRP5-/6 gene polymorphisms and its association with risk of abnormal bone mass in postmenopausal women.", "journal": "Journal of orthopaedic surgery and research", "date": "2023-05-18", "authors": "Li Jun, Liu Zebing, Ren Yanxia, Shao Han, Li Siyuan", "evidence": [ { "database": "RefSeq", "id": "NP_002327", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002327" } ], "reference": [ { "type": "PubMed", "id": "37202775", "url": 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Commun.", "date": "1998", "authors": "Brown SD, Twells RC, Hey PJ, Cox RD, Levy ER, Soderman AR, Metzker ML, Caskey CT, Todd JA, Hess JF", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "reference": [ { "type": "PubMed", "id": "9704021", "url": "https://glygen.org/publication/PubMed/9704021" } ] } ], "pathway": [ { "id": "hsa:4040", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4040", "resource": "KEGG Pathway" }, { "id": "R-HSA-201681", "name": "TCF dependent signaling in response to WNT", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201681", "resource": "Reactome", "description": "TCF dependent signaling in response to WNT" }, { "id": "R-HSA-3772470", "name": "Negative regulation of TCF-dependent signaling by WNT ligand antagonists", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3772470", "resource": "Reactome", "description": "Negative regulation of TCF-dependent 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"MALEPYTKSAEIEPQLCQVIDNNEDVTTKATKCTKSNSGVGWRQMLIGFLLICFGISNSWQYKNVHMPSSSSLIASPPASAFVNTPATLLFTTRHDIQVANITRPTGGPQIDVIVRDLAEAMAIDFYYAKNLVCWTDSGREIIECAQTNSSALQPLLRAPKQTVISTGLDKPEGLAMDWYTDKIYWTDGEKNRIEVATLDGRYQKVLFWTDLDQPRAVAVVPARKLLIWTDWGEYPKIERASMDGDPLSRMTLVKEHVFWPNGLAVDLKNELIYWTDGKHHFIDVMRLDGSSRRTIVNNLKYPFSLTFYDDRLYWTDWQRGSLNALDLQTRELKELIDTPKAPNSVRAWDPSLQPYEDNPCAHNNGNCSHLCLLATNSQGFSCACPTGVKLISANTCANGSQEMMFIVQRTQISKISLDSPDYTIFPLPLGKVKYAIAIDYDPVEEHIYWSDVETYTIKRAHADGTGVTDFVTSEVRHPDGLALDWLARNLYWTDTVTDRIEVCRLDGTARKVLIYEHLEEPRAIAVAPSLGWMFWSDWNERKPKVERASLDGSERVVLVSENLGWPNGIALDIEAKAIYWCDGKTDKIEVANMDGSGRRVVISDNLKHLFGLSILDDYLYWTDWQRRSIDRAHKITGNNRIVVVDQYPDLMGLKVTRLREVRGQNACAVRNGGCSHLCLNRPRDYVCRCAIDYELANDKRTCVVPAAFLLFSRQEHIGRISIEYNEGNHNDERIPFKDVRDAHALDVSVAERRIYWTDQKSKCIFRAFLNGSYVQRIVDSGLIGPDGIAVDWLANNIYWSDAEARRIEVARLDGSSRRVLLWKGVEEPRSLVLEPRRGYMYWTESPTDSIRRAAMDGSDLQTIVAGANHAAGLTFDQETRRLYWATQSRPAKIESADWDGKKRQILVGSDMDEPYAVSLYQDYVYWSDWNTGDIERVHKTTGQNRSLVHSGMTYITSLLVFNDKRQTGVNPCKVNNGGCSHLCLAQPGRRGMTCACPTHYQLAKDGVSCIPPRNYIIFSQRNCFGRLLPNTTDCPNIPLPVSGKNIRAVDYDPITHHIYWIEGRSHSIKRSLANGTKVSLLANSGQPFDLAIDIIGRLLFWTCSQSNSINVTSFLGESVGVIDTGDSEKPRNIAVHAMKRLLFWTDVGSHQAIIRARVDGNERVELAYKLEGVTALALDQQSDMIYYAHGKRIDAIDINGKNKKTLVSMHISQVINIAALGGFVYWLDDKTGVERITVNGERRSAELQRLPQITDIRAVWTPDPKVLRNHTCMHSRTKCSHICIASGEGIARTRDVCSCPKHLMLLEDKENCGAFPACGPDHFTCAAPVSGISDVNKDCIPASWRCDGQKDCPDKSDEVGCPTCRADQFSCQSGECIDKSLVCDGTTNCANGHDEADCCKRPGEFQCPINKLCISAALLCDGWENCADGADESSDICLQRRMAPATDKRAFMILIGATMITIFSIVYLLQFCRTRIGKSRTEPKDDQATDPLSPSTLSKSQRVSKIASVADAVRMSTLNSRNSMNSYDRNHITGASSSTTNGSSMVAYPINPPPSPATRSRRPYRHYKIINQPPPPTPCSTDICDESDSNYTSKSNSNNSNGGATKHSSSSAAACLQYGYDSEPYPPPPTPRSHYHSDVRIVPESSCPPSPSSRSSTYFSPLPPPPSPVQSPSRGFT", "length": 1678 }, "evidence": [ { "id": "O75581", "url": "https://omabrowser.org/oma/group/O75581/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "O88572-1", "protein_name": "Low-density lipoprotein receptor-related protein 6", "gene_name": "Lrp6", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGAVLRSLLACSFCVLLRAAPLLLYANRRDLRLVDATNGKENATIVVGGLEDAAAVDFVFGHGLIYWSDVSEEAIKRTEFNKSESVQNVVVSGLLSPDGLACDWLGEKLYWTDSETNRIEVSNLDGSLRKVLFWQELDQPRAIALDPSSGFMYWTDWGEVPKIERAGMDGSSRFVIINTEIYWPNGLTLDYQERKLYWADAKLNFIHKSNLDGTNRQAVVKGSLPHPFALTLFEDTLYWTDWNTHSILACNKYTGEGLREIHSNIFSPMDIHAFSQQRQPNATNPCGIDNGGCSHLCLMSPVKPFYQCACPTGVKLMENGKTCKDGATELLLLARRTDLRRISLDTPDFTDIVLQLEDIRHAIAIDYDPVEGYIYWTDDEVRAIRRSFIDGSGSQFVVTAQIAHPDGIAVDWVARNLYWTDTGTDRIEVTRLNGTMRKILISEDLEEPRAIVLDPMVGYMYWTDWGEIPKIERAALDGSDRVVLVNTSLGWPNGLALDYDEGTIYWGDAKTDKIEVMNTDGTGRRVLVEDKIPHIFGFTLLGDYVYWTDWQRRSIERVHKRSAEREVIIDQLPDLMGLKATSVHRVIGSNPCAEDNGGCSHLCLYRPQGLRCACPIGFELIGDMKTCIVPEAFLLFSRRADIRRISLETNNNNVAIPLTGVKEASALDFDVTDNRIYWTDISLKTISRAFMNGSALEHVVEFGLDYPEGMAVDWLGKNLYWADTGTNRIEVSKLDGQHRQVLVWKDLDSPRALALDPAEGFMYWTEWGGKPKIDRAAMDGSERTTLVPNVGRANGLTIDYAKRRLYWTDLDTNLIESSDMLGLNREVIADDLPHPFGLTQYQDYIYWTDWSRRSIERANKTSGQNRTIIQGHLDYVMDILVFHSSRQAGWNECASSNGHCSHLCLAVPVGGFVCGCPAHYSLNADNRTCSAPSTFLLFSQKSAINRMVIDEQQSPDIILPIHSLRNVRAIDYDPLDKQLYWIDSRQNSIRKAHEDGGQGFNVVANSVANQNLEIQPYDLSIDIYSRYIYWTCEATNVIDVTRLDGRSVGVVLKGEQDRPRAIVVNPEKGYMYFTNLQERSPKIERAALDGTEREVLFFSGLSKPIALALDSKLGKLFWADSDLRRIESSDLSGANRIVLEDSNILQPVGLTVFENWLYWIDKQQQMIEKIDMTGREGRTKVQARIAQLSDIHAVKELNLQEYRQHPCAQDNGGCSHICLVKGDGTTRCSCPMHLVLLQDELSCGEPPTCSPQQFTCFTGDIDCIPVAWRCDGFTECEDHSDELNCPVCSESQFQCASGQCIDGALRCNGDANCQDKSDEKNCEVLCLIDQFRCANGQCVGKHKKCDHSVDCSDRSDELDCYPTEEPAPQATNTVGSVIGVIVTIFVSGTIYFICQRMLCPRMKGDGETMTNDYVVHSPASVPLGYVPHPSSLSGSLPGMSRGKSMISSLSIMGGSSGPPYDRAHVTGASSSSSSSTKGTYFPAILNPPPSPATERSHYTMEFGYSSNSPSTHRSYSYRPYSYRHFAPPTTPCSTDVCDSDYAPSRRMTSVATAKGYTSDVNYDSEPVPPPPTPRSQYLSAEENYESCPPSPYTERSYSHHLYPPPPSPCTDSS", "length": 1613 }, "evidence": [ { "id": "45922578", "url": "http://www.informatics.jax.org/homology/45922578", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 21, "go_terms": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "neural crest formation", "id": "GO:0014029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014029", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "positive regulation of cytosolic calcium ion concentration", "id": "GO:0007204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007204", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "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": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "positive regulation of DNA-binding transcription factor activity", "id": "GO:0051091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051091", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "cellular response to cholesterol", "id": "GO:0071397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071397", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "neural crest cell differentiation", "id": "GO:0014033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014033", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "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": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell apoptotic process", "id": "GO:0034392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034392", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis involved in cholesterol transport", "id": "GO:0090118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090118", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "Wnt signaling pathway involved in somitogenesis", "id": "GO:0090244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090244", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "dopaminergic neuron differentiation", "id": "GO:0071542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071542", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "midbrain dopaminergic neuron differentiation", "id": "GO:1904948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904948", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 12, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "Wnt signalosome", "id": "GO:1990909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990909", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "Wnt-Frizzled-LRP5/6 complex", "id": "GO:1990851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990851", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 10, "go_terms": [ { "name": "Wnt-protein binding", "id": "GO:0017147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017147", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "Wnt receptor activity", "id": "GO:0042813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042813", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "frizzled binding", "id": "GO:0005109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005109", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "coreceptor activity", "id": "GO:0015026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015026", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "toxin transmembrane transporter activity", "id": "GO:0019534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019534", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "low-density lipoprotein particle receptor activity", "id": "GO:0005041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005041", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" }, { "name": "kinase inhibitor activity", "id": "GO:0019210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019210", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1039, "end_pos": 1041, "annotation": "n_glycosylation_sequon" }, { "start_pos": 281, "end_pos": 283, "annotation": "n_glycosylation_sequon" }, { "start_pos": 42, "end_pos": 44, "annotation": "n_glycosylation_sequon" }, { "start_pos": 433, "end_pos": 435, "annotation": "n_glycosylation_sequon" }, { "start_pos": 486, "end_pos": 488, "annotation": "n_glycosylation_sequon" }, { "start_pos": 692, "end_pos": 694, "annotation": "n_glycosylation_sequon" }, { "start_pos": 81, "end_pos": 83, "annotation": "n_glycosylation_sequon" }, { "start_pos": 859, "end_pos": 861, "annotation": "n_glycosylation_sequon" }, { "start_pos": 865, "end_pos": 867, "annotation": "n_glycosylation_sequon" }, { "start_pos": 926, "end_pos": 928, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Dual phosphorylation of cytoplasmic PPPSP motifs sequentially by GSK3 and CK1 is required for AXIN1-binding, and subsequent stabilization and activation of beta-catenin via preventing GSK3-mediated phosphorylation of beta-catenin. Phosphorylated, in vitro, by GRK5/6 within and outside the PPPSP motifs. Phosphorylation at Ser-1490 by CDK14 during G2/M phase leads to regulation of the Wnt signaling pathway during the cell cycle. Phosphorylation by GSK3B is induced by RPSO1 binding and inhibited by DKK1. Phosphorylated, in vitro, by casein kinase I on Thr-1479.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "PubMed", "id": "16341017", "url": "https://glygen.org/publication/PubMed/16341017" }, { "database": "PubMed", "id": "20059949", "url": "https://glygen.org/publication/PubMed/20059949" }, { "database": "PubMed", "id": "19107203", "url": "https://glygen.org/publication/PubMed/19107203" }, { "database": "PubMed", "id": "17569865", "url": "https://glygen.org/publication/PubMed/17569865" }, { "database": "PubMed", "id": "19293931", "url": "https://glygen.org/publication/PubMed/19293931" }, { "database": "PubMed", "id": "18362152", "url": "https://glygen.org/publication/PubMed/18362152" }, { "database": "PubMed", "id": "19801552", "url": "https://glygen.org/publication/PubMed/19801552" }, { "database": "PubMed", "id": "17698587", "url": "https://glygen.org/publication/PubMed/17698587" }, { "database": "PubMed", "id": "16513652", "url": "https://glygen.org/publication/PubMed/16513652" }, { "database": "PubMed", "id": "17400545", "url": "https://glygen.org/publication/PubMed/17400545" } ] }, { "annotation": "Mono-ubiquitinated which retains LRP6 in the endoplasmic reticulum. Ubiquitinated by ZNRF3, leading to its degradation by the proteasome.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "PubMed", "id": "18378904", "url": "https://glygen.org/publication/PubMed/18378904" }, { "database": "PubMed", "id": "22575959", "url": "https://glygen.org/publication/PubMed/22575959" } ] }, { "annotation": "N-glycosylation is required for cell surface location.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": "https://www.uniprot.org/uniprot/O75581" }, { "database": "PubMed", "id": "22000856", "url": "https://glygen.org/publication/PubMed/22000856" }, { "database": "PubMed", "id": "17698587", "url": "https://glygen.org/publication/PubMed/17698587" } ] }, { "annotation": "Palmitoylation on the two sites near the transmembrane domain leads to release of LRP6 from the endoplasmic reticulum.", "evidence": [ { "database": "UniProtKB", "id": "O75581", "url": 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