{ "uniprot_canonical_ac": "P01130-1", "uniprot_ac": "P01130", "uniprot_id": "LDLR_HUMAN", "mass": { "chemical_mass": 95376.0, "monoisotopic_mass": 95376.0 }, "refseq": { "ac": "NP_000518", "name": "low-density lipoprotein receptor isoform 1 precursor", "summary": "The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the cell membrane, where it binds low density lipoprotein/cholesterol and is taken into the cell. Lysosomes release the cholesterol, which is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2022].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000518" }, "gene_names": [ { "name": "LDLR", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P01130", "id": "P01130" }, { "name": "FH; FHC; FHCL1; LDLCQ2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000518", "id": "NP_000518" }, { "name": "LDLR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000518", "id": "NP_000518" } ], "protein_names": [ { "name": "Low-density lipoprotein receptor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P01130" }, { "name": "LDL receptor; low-density lipoprotein receptor class A domain-containing protein 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000518", "id": "NP_000518" }, { "name": "LDL receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01130" }, { "name": "low-density lipoprotein receptor isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000518", "id": "NP_000518" } ], "function": [ { "annotation": "(Microbial infection) Acts as a receptor for Vesicular stomatitis virus.", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130#function" }, { "database": "PubMed", "id": "23589850", "url": "https://glygen.org/publication/PubMed/23589850" } ] }, { "annotation": "(Microbial infection) Acts as a receptor for hepatitis C virus in hepatocytes, but not through a direct interaction with viral proteins.", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130#function" }, { "database": "PubMed", "id": "10535997", "url": "https://glygen.org/publication/PubMed/10535997" }, { "database": "PubMed", "id": "12615904", "url": "https://glygen.org/publication/PubMed/12615904" } ] }, { "annotation": "(Microbial infection) In case of HIV-1 infection, may function as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells.", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130#function" }, { "database": "PubMed", "id": "11100124", "url": "https://glygen.org/publication/PubMed/11100124" } ] }, { "annotation": "Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits.", "evidence": [ { "database": "UniProtKB", "id": "H0YMD1", "url": "https://www.uniprot.org/uniprot/H0YMD1#function" }, { "database": "UniProtKB", "id": "ARBA00037220", "url": "https://www.uniprot.org/uniprot/ARBA00037220#function" }, { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130#function" }, { "database": "PubMed", "id": "6091915", "url": "https://glygen.org/publication/PubMed/6091915" }, { "database": "PubMed", "id": "3005267", "url": "https://glygen.org/publication/PubMed/3005267" }, { "database": "UniProtKB", "id": "J3KMZ9", "url": "https://www.uniprot.org/uniprot/J3KMZ9#function" } ] }, { "annotation": "Linkage Disequilibrium between LDLR rs688 and AvaII Genes and its Significant Association with Ischemic Stroke.", "evidence": [ { "database": "RefSeq", "id": "NP_000518", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000518" }, { "database": "PubMed", "id": "37519169", "url": "https://glygen.org/publication/PubMed/37519169" } ] }, { "annotation": "Screening and verifying the mutations in the LDLR and APOB genes in a Chinese family with familial hypercholesterolemia. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000518", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000518" }, { "database": "PubMed", "id": "37853441", "url": "https://glygen.org/publication/PubMed/37853441" } ] }, { "annotation": "The LDL receptor is regulated by membrane cholesterol as revealed by fluorescence fluctuation analysis.", "evidence": [ { "database": "RefSeq", "id": "NP_000518", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000518" }, { "database": "PubMed", "id": "37559362", "url": "https://glygen.org/publication/PubMed/37559362" } ] }, { "annotation": "The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the cell membrane, where it binds low density lipoprotein/cholesterol and is taken into the cell. Lysosomes release the cholesterol, which is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2022].", "evidence": [ { "database": "RefSeq", "id": "NP_000518", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000518" } ] } ], "disease": [ { "disease_id": "DOID:13810", "recommended_name": { "id": "DOID:13810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13810", "name": "familial hypercholesterolemia", "description": "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease." }, "synonyms": [ { "id": "DOID:13810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13810", "name": "Fredrickson type IIa hyperlipoproteinemia", "description": "" }, { "id": "DOID:13810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13810", "name": "Fredrickson type IIa lipidaemia", "description": "" }, { "id": "DOID:13810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13810", "name": "familial hyperbetalipoproteinaemia", "description": "" }, { "id": "DOID:13810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13810", "name": "familial hypercholesteremia", "description": "" }, { "id": "DOID:13810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13810", "name": "hyperbetalipoproteinemia", "description": "" }, { "id": "DOID:13810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13810", "name": "type II hyperlipidemia", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hypercholesterolemia, familial, 1", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "FHCL1", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "LDL cholesterol level QTL2", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "LDL receptor disorder", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hypercholesterolemia, familial", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hypercholesterolemia, familial, 1", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hypercholesterolemia, familial, due to ldlr defect, modifier of", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hypercholesterolemia, familial, modifier of", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hypercholesterolemic xanthomatosis, familial", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hyperlipoproteinemia, type 2", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hyperlipoproteinemia, type 2A", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "FHC", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hyper-low-density-lipoproteinemia", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hypercholesterolemia, susceptibility to", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "low density lipoprotein cholesterol level quantitative trait locus 2", "description": "" }, { "id": "MIM:143890", "resource": "MIM", "url": "https://www.omim.org/entry/143890", "name": "Hypercholesterolemia, familial, 1", "description": "Hypercholesterolemia, familial, 1" } ], "evidence": [ { "id": "143890", "database": "MIM", "url": "https://www.omim.org/entry/143890" } ] } ], "snv": [ { "evidence": [ { "id": "rs750126678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750126678" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 108, "end_pos": 108, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->K).", "chr_id": "19", "chr_pos": "11105229", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T108", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P01130", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01130" }, { "id": "rs750126678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750126678" }, { "id": "rs750126678", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750126678" }, { "id": "rs750126678", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750126678" }, { "id": "rs750126678", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750126678#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 108, "end_pos": 108, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->M).", "chr_id": "19", "chr_pos": "11105229", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T108", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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"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" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of 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"https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": 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"https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": 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"database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372845091" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 97, "end_pos": 97, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->KGS).", "chr_id": "19", "chr_pos": "11102764", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N97", "disease": [ { "disease_id": "DOID:13810", "recommended_name": { "id": "DOID:13810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13810", "name": "familial hypercholesterolemia", "description": "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease." }, "synonyms": [ { "id": "DOID:13810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13810", "name": "Fredrickson type IIa hyperlipoproteinemia", "description": "" }, { "id": "DOID:13810", 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No change; when associated with R-816 and R-830. Insensitive to MYLIP-triggered degradation; when associated with R-816; R-830 and A-839.", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" }, { "database": "PubMed", "id": "19520913", "url": "https://glygen.org/publication/PubMed/19520913" } ] }, { "start_pos": 816, "end_pos": 816, "sequence_org": "K", "sequence_mut": "R", "comment": "No change. No change; when associated with R-830. No change; when associated with R-811 and R-830. Insensitive to MYLIP-triggered degradation; when associated with R-830 and A-839. Insensitive to MYLIP-triggered degradation; when associated with R-811; R-830 and A-839.", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" }, { "database": "PubMed", "id": "19520913", "url": "https://glygen.org/publication/PubMed/19520913" } ] }, { "start_pos": 821, "end_pos": 821, "sequence_org": "I", "sequence_mut": "A", "comment": "3-fold decreased affinity for LDLRAP1.", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" }, { "database": "PubMed", "id": "22509010", "url": "https://glygen.org/publication/PubMed/22509010" } ] }, { "start_pos": 821, "end_pos": 821, "sequence_org": "I", "sequence_mut": "R", "comment": "10-fold decreased affinity for LDLRAP1.", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" }, { "database": "PubMed", "id": "22509010", "url": "https://glygen.org/publication/PubMed/22509010" } ] }, { "start_pos": 828, "end_pos": 828, "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes interaction with ARRB2.", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" }, { "database": "PubMed", "id": "12944399", "url": "https://glygen.org/publication/PubMed/12944399" } ] }, { "start_pos": 829, "end_pos": 829, "sequence_org": "Q", "sequence_mut": "A", "comment": "Decreased affinity for LDLRAP1.", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" }, { "database": "PubMed", "id": "22509010", "url": "https://glygen.org/publication/PubMed/22509010" } ] }, { "start_pos": 830, "end_pos": 830, "sequence_org": "K", "sequence_mut": "R", "comment": "No change. No change; when associated with R-816. No change; when associated with R-811 and R-816. Insensitive to MYLIP-triggered degradation; when associated with A-839. Insensitive to MYLIP-triggered degradation; when associated with R-816 and A-839. Insensitive to MYLIP-triggered degradation; when associated with R-811; R-816 and A-839.", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" }, { "database": "PubMed", "id": "19520913", "url": "https://glygen.org/publication/PubMed/19520913" } ] }, { "start_pos": 839, "end_pos": 839, "sequence_org": "C", "sequence_mut": "A", "comment": "No change. Insensitive to MYLIP-triggered degradation; when associated with R-830. Insensitive to MYLIP-triggered degradation; when associated with R-816 and R-830. Insensitive to MYLIP-triggered degradation; when associated with R-811; R-816 and R-830.", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" }, { "database": "PubMed", "id": "19520913", "url": "https://glygen.org/publication/PubMed/19520913" } ] }, { "start_pos": 854, "end_pos": 854, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on receptor internalization.", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" }, { "database": "PubMed", "id": "12944399", "url": "https://glygen.org/publication/PubMed/12944399" } ] }, { "start_pos": 854, "end_pos": 854, "sequence_org": "S", "sequence_mut": "D", "comment": "Enhances interaction with ARRB2 and receptor internalization.", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" }, { "database": "PubMed", "id": "12944399", "url": "https://glygen.org/publication/PubMed/12944399" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "86.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130164", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130164" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "90.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130164", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130164" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "89.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130164", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130164" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "71.97", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000130164", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130164" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "85.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130164", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130164" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "88.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130164", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130164" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "86.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130164", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130164" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "82.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130164", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130164" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "83.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130164", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130164" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "97.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130164", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130164" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "94.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130164", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130164" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "87.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130164", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130164" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "86.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130164", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130164" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P01130", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01130" } ], "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, 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"id": "R-HSA-8964038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964038", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000518", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000518", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P01130", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "H0YM92", "url": "https://www.uniprot.org/uniprot/H0YM92", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YM92-1", "url": "https://www.uniprot.org/uniprot/H0YM92-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YMD1", "url": "https://www.uniprot.org/uniprot/H0YMD1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YMD1-1", "url": "https://www.uniprot.org/uniprot/H0YMD1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YMQ3", "url": "https://www.uniprot.org/uniprot/H0YMQ3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YMQ3-1", "url": "https://www.uniprot.org/uniprot/H0YMQ3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KMZ9", "url": "https://www.uniprot.org/uniprot/J3KMZ9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KMZ9-1", "url": "https://www.uniprot.org/uniprot/J3KMZ9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P01130-1", "url": "https://www.uniprot.org/uniprot/P01130-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P01130-2", "url": "https://www.uniprot.org/uniprot/P01130-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P01130-3", "url": "https://www.uniprot.org/uniprot/P01130-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P01130-4", "url": "https://www.uniprot.org/uniprot/P01130-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P01130-5", "url": "https://www.uniprot.org/uniprot/P01130-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P01130-6", "url": "https://www.uniprot.org/uniprot/P01130-6", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGPWGWKLRWTVALLLAAAGTAVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCLSVTCKSGDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQGCPPKTCSQDEFRCHDGKCISRQFVCDSDRDCLDGSDEASCPVLTCGPASFQCNSSTCIPQLWACDNDPDCEDGSDEWPQRCRGLYVFQGDSSPCSAFEFHCLSGECIHSSWRCDGGPDCKDKSDEENCAVATCRPDEFQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNVTLCEGPNKFKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQRRCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILEDEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQPRGVNWCERTTLSNGGCQYLCLPAPQINPHSPKFTCACPDGMLLARDMRSCLTEAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQALGDVAGRGNEKKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICHNQDGYSYPSRQMVSLEDDVA", "length": 860, "header": "sp|P01130-1|LDLR_HUMAN Isoform 1 of Low-density lipoprotein receptor OS=Homo sapiens OX=9606 GN=LDLR PE=1 SV=1 CANONICAL=P01130-1" }, "isoforms": [ { "isoform_ac": "H0YM92-1", "url": "", "sequence": { "sequence": "MGPWGWKLRWTVALLLAAAGTAVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCLSVTCKSGDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQGCPPKTCSQDEFRCHDGKCISRQFVCDSDRDCLDGSDEASCPVLTCGPASFQCNSSTCIPQLWACDNDPDCEDGSDEWPQRCRGLYVFQGDSSPCSAFEFHCLSGECIHSSWRCDGGPDCKDKSDEENCAVATCRPDEFQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNVTLCEGPNKFKCHSGECITLDKVCNMARDCRDWSDEPIKECDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILEDEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQPRGVNWCERTTLSNGGCQYLCLPAPQINPHSPKFTCACPDGMLLARDMRSCLTEAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQALGDVAGRGNEKKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICHNQDGYSYPSRQMVSLEDDVA", "length": 820, "header": "tr|H0YM92-1|H0YM92_HUMAN Computationally mapped isoform of Low density lipoprotein receptor OS=Homo sapiens OX=9606 GN=LDLR PE=1 SV=2 CANONICAL=P01130-1" }, "locus": {} }, { "isoform_ac": "H0YMD1-1", "url": "", "sequence": { "sequence": "MGPWGWKLRWTVALLLAAAGTAVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCLSVTCKSGDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQGCPPKTCSQDEFRCHDGKCISRQFVCDSDRDCLDGSDEASCPVLTCGPASFQCNSSTCIPQLWACDNDPDCEDGSDEWPQRCRGLYVFQGDSSPCSAFEFHCLSGECIHSSWRCDGGPDCKDKSDEENCAVATCRPDEFQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNVTLCEGPNKFKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQRRCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILEDEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQPRGVNWCERTTLSNGGCQYLCLPAPQINPHSPKFTCACPDGMLLARDMRSCLTEAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQALGDVAGRGNEKKPSSVRALSIVLPIATELGLWSRGQLCDRACLSLQCSSSSFAWGSSFYGRTGGLRTSTASTLTTPSIRRPQRMRSTFATTRTATATPRDRWSVWRMTWREHLPGVPSLPRTLPETSPALFYSKTEKTKALPARALFYIFIHLGGRTGFGQCPCNGLGWDFGFFLSS", "length": 948, "header": "tr|H0YMD1-1|H0YMD1_HUMAN Computationally mapped isoform of Low-density lipoprotein receptor OS=Homo sapiens OX=9606 GN=LDLR PE=1 SV=1 CANONICAL=P01130-1" }, "locus": { "chromosome": "19", "start_pos": 11131515, "end_pos": 11089549, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000557933.5", "url": "https://www.ensembl.org/id/ENST00000557933.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000453557.1", "url": "https://www.ensembl.org/id/ENSP00000453557.1" } ] } }, { "isoform_ac": "H0YMQ3-1", "url": "", "sequence": { "sequence": "MGPWGWKLRWTVALLLAAAGTAVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCLSVTCKSGDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQGCPPKTCSQDEFRCHDGKCISRQFVCDSDRDCLDGSDEASCPVLTCGPASFQCNSSTCIPQLWACDNDPDCEDGSDEWPQRCRGLYVFQGDSSPCSAFEFHCLSGECIHSSWRCDGGPDCKDKSDEENCAVATCRPDEFQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNVTLCEGPNKFKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQRRCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLGQSILDRYHQRSHFQCQPPHRFRCQLVG", "length": 596, "header": "tr|H0YMQ3-1|LDLR_HUMAN Computationally mapped isoform of Low-density lipoprotein receptor OS=Homo sapiens OX=9606 GN=LDLR PE=1 SV=2 CANONICAL=P01130-1" }, "locus": {} }, { "isoform_ac": "J3KMZ9-1", "url": "", "sequence": { "sequence": "MQGRPGVPPRFLSQRRRQVPGPRSRLRDIHESPSVILGPPGEVPGFRCALWRHLRPHLVLGGALAPPAPIKFTEGPPATLKASVPYEVETLPQNLPAPPWSAAEIFSHVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCLSVTCKSGDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQGCPPKTCSQDEFRCHDGKCISRQFVCDSDRDCLDGSDEASCPVLTCGPASFQCNSSTCIPQLWACDNDPDCEDGSDEWPQRCRGLYVFQGDSSPCSAFEFHCLSGECIHSSWRCDGGPDCKDKSDEENCAVATCRPDEFQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNVTLCEGPNKFKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQRRCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILEDEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQPRGVNWCERTTLSNGGCQYLCLPAPQINPHSPKFTCACPDGMLLARDMRSCLTEAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQALGDVAGRGNEKKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICHNQDGYSYPSRQMVSLEDDVA", "length": 946, "header": "tr|J3KMZ9-1|J3KMZ9_HUMAN Computationally mapped isoform of Low-density lipoprotein receptor OS=Homo sapiens OX=9606 GN=LDLR PE=1 SV=2 CANONICAL=P01130-1" }, "locus": {} }, { "isoform_ac": "P01130-1", "url": "", "sequence": { "sequence": "MGPWGWKLRWTVALLLAAAGTAVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCLSVTCKSGDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQGCPPKTCSQDEFRCHDGKCISRQFVCDSDRDCLDGSDEASCPVLTCGPASFQCNSSTCIPQLWACDNDPDCEDGSDEWPQRCRGLYVFQGDSSPCSAFEFHCLSGECIHSSWRCDGGPDCKDKSDEENCAVATCRPDEFQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNVTLCEGPNKFKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQRRCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILEDEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQPRGVNWCERTTLSNGGCQYLCLPAPQINPHSPKFTCACPDGMLLARDMRSCLTEAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQALGDVAGRGNEKKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICHNQDGYSYPSRQMVSLEDDVA", "length": 860, "header": "sp|P01130-1|LDLR_HUMAN Isoform 1 of Low-density lipoprotein receptor OS=Homo sapiens OX=9606 GN=LDLR PE=1 SV=1 CANONICAL=P01130-1" }, "locus": { "chromosome": "19", "start_pos": 11131313, "end_pos": 11089549, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000558518.6", "url": "https://www.ensembl.org/id/ENST00000558518.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000454071.1", "url": "https://www.ensembl.org/id/ENSP00000454071.1" } ] } }, { "isoform_ac": "P01130-2", "url": "", "sequence": { "sequence": "MGPWGWKLRWTVALLLAAAGTAVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCLSVTCKSGDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQGCPVATCRPDEFQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNVTLCEGPNKFKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQRRCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILEDEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQPREAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQALGDVAGRGNEKKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICHNQDGYSYPSRQMVSLEDDVA", "length": 682, "header": "sp|P01130-2|LDLR_HUMAN Isoform 2 of Low-density lipoprotein receptor OS=Homo sapiens OX=9606 GN=LDLR PE=1 SV=1 CANONICAL=P01130-1" }, "locus": { "chromosome": "19", "start_pos": 11131313, "end_pos": 11089549, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000545707.5", "url": "https://www.ensembl.org/id/ENST00000545707.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000437639.1", "url": "https://www.ensembl.org/id/ENSP00000437639.1" } ] } }, { "isoform_ac": "P01130-3", "url": "", "sequence": { "sequence": "MGPWGWKLRWTVALLLAAAGTAVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCLSVTCKSGDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQGCLTLCEGPNKFKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQRRCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILEDEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQPRGVNWCERTTLSNGGCQYLCLPAPQINPHSPKFTCACPDGMLLARDMRSCLTEAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQALGDVAGRGNEKKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICHNQDGYSYPSRQMVSLEDDVA", "length": 692, "header": "sp|P01130-3|LDLR_HUMAN Isoform 3 of Low-density lipoprotein receptor OS=Homo sapiens OX=9606 GN=LDLR PE=1 SV=1 CANONICAL=P01130-1" }, "locus": { "chromosome": "19", "start_pos": 11131313, "end_pos": 11089549, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000455727.6", "url": "https://www.ensembl.org/id/ENST00000455727.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000397829.2", "url": "https://www.ensembl.org/id/ENSP00000397829.2" } ] } }, { "isoform_ac": "P01130-4", "url": "", "sequence": { "sequence": "MGPWGWKLRWTVALLLAAAGTAVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCSPKTCSQDEFRCHDGKCISRQFVCDSDRDCLDGSDEASCPVLTCGPASFQCNSSTCIPQLWACDNDPDCEDGSDEWPQRCRGLYVFQGDSSPCSAFEFHCLSGECIHSSWRCDGGPDCKDKSDEENCAVATCRPDEFQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNVTLCEGPNKFKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQRRCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILEDEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQPRGVNWCERTTLSNGGCQYLCLPAPQINPHSPKFTCACPDGMLLARDMRSCLTEAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQALGDVAGRGNEKKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICHNQDGYSYPSRQMVSLEDDVA", "length": 819, "header": "sp|P01130-4|LDLR_HUMAN Isoform 4 of Low-density lipoprotein receptor OS=Homo sapiens OX=9606 GN=LDLR PE=1 SV=1 CANONICAL=P01130-1" }, "locus": { "chromosome": "19", "start_pos": 11131313, "end_pos": 11089549, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000535915.5", "url": "https://www.ensembl.org/id/ENST00000535915.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000440520.1", "url": "https://www.ensembl.org/id/ENSP00000440520.1" } ] } }, { "isoform_ac": "P01130-5", "url": "", "sequence": { "sequence": "MGPWGWKLRWTVALLLAAAGTAVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCLSVTCKSGDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQGCPPKTCSQDEFRCHDGKCISRQFVCDSDRDCLDGSDEASCPVLTCGPASFQCNSSTCIPQLWACDNDPDCEDGSDEWPQRCRGLYVFQGDSSPCSAFEFHCLSGECIHSSWRCDGGPDCKDKSDEENCAVATCRPDEFQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNVTLCEGPNKFKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQRRCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILEDEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQPRGVNWCERTTLSNGGCQYLCLPAPQINPHSPKFTCACPDGMLLARDMRSCLTEAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQALGDVAGRGNEKKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICHNQDGYSYPSMVSLEDDVA", "length": 858, "header": "sp|P01130-5|LDLR_HUMAN Isoform 5 of Low-density lipoprotein receptor OS=Homo sapiens OX=9606 GN=LDLR PE=1 SV=1 CANONICAL=P01130-1" }, "locus": { "chromosome": "19", "start_pos": 11131313, "end_pos": 11089549, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000558013.5", "url": "https://www.ensembl.org/id/ENST00000558013.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000453346.1", "url": "https://www.ensembl.org/id/ENSP00000453346.1" } ] } }, { "isoform_ac": "P01130-6", "url": "", "sequence": { "sequence": "MGPWGWKLRWTVALLLAAAGTAVGDRCERNEFQCNSSTCIPQLWACDNDPDCEDGSDEWPQRCRGLYVFQGDSSPCSAFEFHCLSGECIHSSWRCDGGPDCKDKSDEENCAVATCRPDEFQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNVTLCEGPNKFKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQRRCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILEDEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQPRGVNWCERTTLSNGGCQYLCLPAPQINPHSPKFTCACPDGMLLARDMRSCLTEAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQALGDVAGRGNEKKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICHNQDGYSYPSRQMVSLEDDVA", "length": 739, "header": "sp|P01130-6|LDLR_HUMAN Isoform 6 of Low-density lipoprotein receptor OS=Homo sapiens OX=9606 GN=LDLR PE=1 SV=1 CANONICAL=P01130-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 108, "start_aa": "Thr", "end_pos": 108, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr108", "evidence": [ { "id": "P01130", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "TCSQDEFR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 108, "start_aa": "Thr", "end_pos": 115, "end_aa": "Arg", "evidence": [ { "id": "P01130", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 156, "start_aa": "Asn", "end_pos": 156, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn156", "evidence": [ { "id": "P01130", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01130#ptm_processing" }, { "id": "19520913", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19520913" }, { "id": "1N7D", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1N7D" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 235, "start_aa": "Thr", "end_pos": 235, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr235", "evidence": [ { "id": "P01130", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G11629QQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 272, "start_aa": "Asn", "end_pos": 272, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn272", "evidence": [ { "id": "343", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/343" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G25451PN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 272, "start_aa": "Asn", "end_pos": 272, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn272", "evidence": [ { "id": "343", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/343" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G83229XP", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 272, "start_aa": "Asn", "end_pos": 272, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn272", "evidence": [ { "id": "343", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/343" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G84452RH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 272, "start_aa": "Asn", "end_pos": 272, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn272", "evidence": [ { "id": "343", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/343" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 272, "start_aa": "Asn", "end_pos": 272, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn272", "evidence": [ { "id": "P01130", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01130#ptm_processing" }, { "id": "19520913", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19520913" }, { "id": "1N7D", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1N7D" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G37881RL", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 515, "start_aa": "Asn", "end_pos": 515, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn515", "evidence": [ { "id": "343", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/343" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 515, "start_aa": "Asn", "end_pos": 515, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn515", "evidence": [ { "id": "P01130", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01130#ptm_processing" } ] }, { "glytoucan_ac": "G00406II", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 657, "start_aa": "Asn", "end_pos": 657, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn657", "evidence": [ { "id": "343", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/343" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G25451PN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 657, "start_aa": "Asn", "end_pos": 657, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn657", "evidence": [ { "id": "343", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/343" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G47012YE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 657, "start_aa": "Asn", "end_pos": 657, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn657", "evidence": [ { "id": "343", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/343" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G75983OB", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 657, "start_aa": "Asn", "end_pos": 657, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn657", "evidence": [ { "id": "343", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/343" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G83229XP", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 657, "start_aa": "Asn", "end_pos": 657, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn657", "evidence": [ { "id": "343", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/343" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 657, "start_aa": "Asn", "end_pos": 657, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn657", "evidence": [ { "id": "P01130", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01130#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" }, { "id": "12754519", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/12754519" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 665, "start_aa": "Asn", "end_pos": 665, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn665", "evidence": [ { "id": "343", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/343" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "SCLTEAEAAVATQETSTVR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 710, "start_aa": "Ser", "end_pos": 728, "end_aa": "Arg", "evidence": [ { "id": "P01130", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "SCLTEAEAAVATQETSTVRLK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 710, "start_aa": "Ser", "end_pos": 730, "end_aa": "Lys", "evidence": [ { "id": "P01130", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 721, "start_aa": "Thr", "end_pos": 721, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr721", "evidence": [ { "id": "P01130", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 724, "start_aa": "Thr", "end_pos": 724, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr724", "evidence": [ { "id": "P01130", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 725, "start_aa": "Ser", "end_pos": 725, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser725", "evidence": [ { "id": "P01130", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 726, "start_aa": "Thr", "end_pos": 726, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr726", "evidence": [ { "id": "P01130", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 732, "start_aa": "Ser", "end_pos": 732, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser732", "evidence": [ { "id": "P01130", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 733, "start_aa": "Ser", "end_pos": 733, "end_aa": "Ser", "residue": 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"database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 36, "go_terms": [ { "name": "negative regulation of microglial cell activation", "id": "GO:1903979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903979", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "positive regulation of lysosomal protein catabolic process", "id": "GO:1905167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905167", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "regulation of cholesterol metabolic process", "id": "GO:0090181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090181", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "phospholipid transport", "id": "GO:0015914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015914", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "intestinal cholesterol absorption", "id": "GO:0030299", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030299", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "negative regulation of low-density lipoprotein particle clearance", "id": "GO:0010989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010989", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "low-density lipoprotein particle clearance", "id": "GO:0034383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034383", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "high-density lipoprotein particle clearance", "id": "GO:0034384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034384", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "cholesterol transport", "id": "GO:0030301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030301", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "cholesterol import", "id": "GO:0070508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070508", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "negative regulation of receptor recycling", "id": "GO:0001920", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001920", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "lipoprotein catabolic process", "id": "GO:0042159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042159", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "regulation of protein metabolic process", "id": "GO:0051246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051246", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "response to caloric restriction", "id": "GO:0061771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061771", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "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": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "plasma lipoprotein particle clearance", "id": "GO:0034381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034381", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "cellular response to low-density lipoprotein particle stimulus", "id": "GO:0071404", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071404", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "cellular response to fatty acid", "id": "GO:0071398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071398", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "positive regulation of triglyceride biosynthetic process", "id": "GO:0010867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010867", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "negative regulation of amyloid fibril formation", "id": "GO:1905907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905907", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "amyloid-beta clearance", "id": "GO:0097242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097242", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "regulation of phosphatidylcholine catabolic process", "id": "GO:0010899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010899", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "negative regulation of protein metabolic process", "id": "GO:0051248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051248", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "negative regulation of astrocyte activation", "id": "GO:0061889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061889", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "amyloid-beta clearance by cellular catabolic process", "id": "GO:0150094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150094", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 11, "go_terms": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "virus receptor activity", "id": "GO:0001618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001618", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle receptor activity", "id": "GO:0030229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030229", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "lipoprotein particle binding", "id": "GO:0071813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071813", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "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": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "low-density lipoprotein particle binding", "id": "GO:0030169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030169", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "clathrin heavy chain binding", "id": "GO:0032050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032050", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 19, "go_terms": [ { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "clathrin-coated endocytic vesicle membrane", "id": "GO:0030669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030669", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "endolysosome membrane", "id": "GO:0036020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036020", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "low-density lipoprotein particle", "id": "GO:0034362", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034362", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "somatodendritic compartment", "id": "GO:0036477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036477", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "sorting endosome", "id": "GO:0097443", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097443", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" }, { "name": "PCSK9-LDLR complex", "id": "GO:1990666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990666", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "low-density lipoprotein receptor O-glycosylated 1 (human)", "definition": "A low-density lipoprotein receptor (human) that has been O-glycosylated at the residue equivalent to Ser-768 of the amino acid sequence represented by UniProtKB:P01130-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P01130-1, Ser-768, MOD:00002~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000051629", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051629" } ] }, { "name": "low-density lipoprotein receptor O-glycosylated 2 (human)", "definition": "A low-density lipoprotein receptor (human) that has been O-glycosylated at the residue equivalent to Ser-768 of the amino acid sequence represented by UniProtKB:P01130-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P01130-1, Ser-768, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000051630", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051630" } ] }, { "name": "low-density lipoprotein receptor O-glycosylated 3 (human)", "definition": "A low-density lipoprotein receptor (human) that has been O-glycosylated at the residue equivalent to Thr-108 of the amino acid sequence represented by UniProtKB:P01130-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P01130-1, Thr-108, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000051631", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051631" } ] }, { "name": "low-density lipoprotein receptor O-glycosylated 4 (human)", "definition": "A low-density lipoprotein receptor (human) that has been O-glycosylated at the residue equivalent to Thr-235 of the amino acid sequence represented by UniProtKB:P01130-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P01130-1, Thr-235, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000051632", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051632" } ] } ], "site_annotation": [ { "start_pos": 156, "end_pos": 158, "annotation": "n_glycosylation_sequon" }, { "start_pos": 272, "end_pos": 274, "annotation": "n_glycosylation_sequon" }, { "start_pos": 515, "end_pos": 517, "annotation": "n_glycosylation_sequon" }, { "start_pos": 657, "end_pos": 659, "annotation": "n_glycosylation_sequon" }, { "start_pos": 97, "end_pos": 99, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "N- and O-glycosylated.", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" }, { "database": "PubMed", "id": "19520913", "url": "https://glygen.org/publication/PubMed/19520913" }, { "database": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" }, { "database": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" }, { "database": "PubMed", "id": "12754519", "url": "https://glygen.org/publication/PubMed/12754519" }, { "database": "PubMed", "id": "3005267", "url": "https://glygen.org/publication/PubMed/3005267" } ] }, { "annotation": "Ubiquitinated by MYLIP leading to degradation.", "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprot/P01130" }, { "database": "PubMed", "id": "19520913", "url": "https://glygen.org/publication/PubMed/19520913" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 97, 156, 272, 515, 657, 665 ], "o_linked_sites": [ 108, 235, 710, 721, 724, 725, 726, 732, 733, 734, 738, 741, 742, 743, 750, 766, 768 ], "snv_sites": [ 32, 47, 57, 72, 82, 97, 99, 108, 136, 156, 157, 158, 171, 175, 193, 210, 224, 232, 235, 249, 263, 272, 274, 299, 304, 323, 324, 363, 441, 442, 465, 491, 517, 532, 566, 585, 627, 642, 657, 658, 659, 667, 676, 721, 724, 725, 726, 733, 734, 738, 742, 743, 748, 750, 766, 768, 800, 814 ], "glycation_sites": [], "phosphorylation_sites": [ 397, 404, 447, 724, 845, 847 ], "sequon_annotation_sites": [ { "start_pos": 156, "end_pos": 158 }, { "start_pos": 272, "end_pos": 274 }, { "start_pos": 515, "end_pos": 517 }, { "start_pos": 657, "end_pos": 659 }, { "start_pos": 97, "end_pos": 99 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 46 }, { "field": "total_sites", "count": 23 }, { "field": "n_linked_glycans", "count": 9 }, { "field": "n_linked_glycan_sites", "count": 9 }, { "field": "o_linked_glycans", "count": 10 }, { "field": "o_linked_glycan_sites", "count": 17 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 41 }, { "field": "total_sites", "count": 21 }, { "field": "n_linked_glycans", "count": 9 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "field": "o_linked_glycans", "count": 10 }, { "field": "o_linked_glycan_sites", "count": 17 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 88 }, { "field": "total_sites", "count": 58 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 60 }, { "field": "total_sites", "count": 47 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 28 }, { "field": "total_sites", "count": 26 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 372 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }