{ "uniprot_canonical_ac": "P02656-1", "uniprot_ac": "P02656", "uniprot_id": "APOC3_HUMAN", "mass": { "chemical_mass": 10852.0, "monoisotopic_mass": 10852.0 }, "refseq": { "ac": "NP_000031", "name": "apolipoprotein C-III precursor", "summary": "This gene encodes a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. The encoded protein plays a role in role in the metabolism of these TRLs through multiple modes. This protein has been shown to promote the secretion of VLDL1, inhibit lipoprotein lipase enzyme activity, and delay catabolism of TRL remnants. Mutations in this gene are associated with low plasma triglyceride levels and reduced risk of ischemic cardiovascular disease, and hyperalphalipoproteinemia, which is characterized by elevated levels of high density lipoprotein (HDL) and HDL cholesterol in human patients. This gene and other related genes comprise an apolipoprotein gene cluster on chromosome 11. [provided by RefSeq, Sep 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000031" }, "gene_names": [ { "name": "APOC3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P02656", "id": "P02656" }, { "name": "APOC3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000031", "id": "NP_000031" }, { "name": "Apo-C3; ApoC-3; APOCIII", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000031", "id": "NP_000031" } ], "protein_names": [ { "name": "Apolipoprotein C-III", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P02656" }, { "name": "Apo-CIII", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02656" }, { "name": "ApoC-III", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02656" }, { "name": "Apolipoprotein C3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02656" }, { "name": "apolipoprotein C-III precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000031", "id": "NP_000031" }, { "name": "apolipoprotein C-III", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000031", "id": "NP_000031" } ], "function": [ { "annotation": "Apolipoprotein C3: form begets function. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000031", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000031" }, { "database": "PubMed", "id": "37972731", "url": "https://glygen.org/publication/PubMed/37972731" } ] }, { "annotation": "Component of triglyceride-rich very low density lipoproteins (VLDL) and high density lipoproteins (HDL) in plasma (PubMed:18201179, PubMed:22510806). Plays a multifaceted role in triglyceride homeostasis (PubMed:18201179, PubMed:22510806). Intracellularly, promotes hepatic very low density lipoprotein 1 (VLDL1) assembly and secretion; extracellularly, attenuates hydrolysis and clearance of triglyceride-rich lipoproteins (TRLs) (PubMed:18201179, PubMed:22510806). Impairs the lipolysis of TRLs by inhibiting lipoprotein lipase and the hepatic uptake of TRLs by remnant receptors (PubMed:18201179, PubMed:22510806). Formed of several curved helices connected via semiflexible hinges, so that it can wrap tightly around the curved micelle surface and easily adapt to the different diameters of its natural binding partners (PubMed:18408013).", "evidence": [ { "database": "UniProtKB", "id": "P02656", "url": "https://www.uniprot.org/uniprot/P02656#function" }, { "database": "PubMed", "id": "18201179", "url": "https://glygen.org/publication/PubMed/18201179" }, { "database": "PubMed", "id": "18408013", "url": "https://glygen.org/publication/PubMed/18408013" }, { "database": "PubMed", "id": "22510806", "url": "https://glygen.org/publication/PubMed/22510806" } ] }, { "annotation": "Role of APOC3 3238C/G polymorphism in HIV-associated neurocognitive disorder.", "evidence": [ { "database": "RefSeq", "id": "NP_000031", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000031" }, { "database": "PubMed", "id": "37044204", "url": "https://glygen.org/publication/PubMed/37044204" } ] }, { "annotation": "SP1 transcriptionally upregulates the expression of APOC3 in KGN cells to promote disease progression by regulating TLR2/NF-kappaB signalling pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_000031", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000031" }, { "database": "PubMed", "id": "37902017", "url": "https://glygen.org/publication/PubMed/37902017" } ] }, { "annotation": "This gene encodes a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. The encoded protein plays a role in role in the metabolism of these TRLs through multiple modes. This protein has been shown to promote the secretion of VLDL1, inhibit lipoprotein lipase enzyme activity, and delay catabolism of TRL remnants. Mutations in this gene are associated with low plasma triglyceride levels and reduced risk of ischemic cardiovascular disease, and hyperalphalipoproteinemia, which is characterized by elevated levels of high density lipoprotein (HDL) and HDL cholesterol in human patients. This gene and other related genes comprise an apolipoprotein gene cluster on chromosome 11. [provided by RefSeq, Sep 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_000031", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000031" } ] }, { "annotation": "[Association Between Apolipoprotein C-3 Sst Polymorphism and Serum Lipids in Patients With Gestational Diabetes Mellitus].", "evidence": [ { "database": "RefSeq", "id": "NP_000031", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000031" }, { "database": "PubMed", "id": "37866958", "url": "https://glygen.org/publication/PubMed/37866958" } ] }, { "annotation": "[The role of apolipoprotein C3 in the regulation of nonalcoholic fatty liver disease, glucose and lipid metabolism, and islet beta cell function]. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000031", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000031" }, { "database": "PubMed", "id": "38151342", "url": "https://glygen.org/publication/PubMed/38151342" } ] } ], "disease": [ { "disease_id": "DOID:0111370", "recommended_name": { "id": "DOID:0111370", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111370", "name": "apolipoprotein C-III deficiency", "description": "A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the APOC3 gene on chromosome 11q23.3." }, "synonyms": [ { "id": "DOID:0111370", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111370", "name": "HALP2", "description": "" }, { "id": "DOID:0111370", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111370", "name": "hyperalphalipoproteinemia 2", "description": "" }, { "id": "MONDO:0013534", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013534", "name": "apolipoprotein c-III deficiency", "description": "" }, { "id": "MONDO:0013534", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013534", "name": "apolipoprotein c-III deficiency", "description": "" }, { "id": "MONDO:0013534", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013534", "name": "hyperalphalipoproteinemia 2", "description": "" }, { "id": "MIM:614028", "resource": "MIM", "url": "https://www.omim.org/entry/614028", "name": "Hyperalphalipoproteinemia 2", "description": "Hyperalphalipoproteinemia 2" } ], "evidence": [ { "id": "614028", "database": "MIM", "url": "https://www.omim.org/entry/614028" } ] } ], "snv": [ { "evidence": [ { "id": "rs1293892400", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1293892400" }, { "id": "rs1293892400", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1293892400#frequency_tab" }, { "id": "rs1293892400", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1293892400" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 80, "end_pos": 80, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KFS->NFS).", "chr_id": "11", "chr_pos": "116832824", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K80", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs121918381", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918381" }, { "id": "rs121918381", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121918381" }, { "id": "rs121918381", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918381" }, { "id": "rs121918381", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121918381#frequency_tab" }, { "id": "rs121918381", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121918381" }, { "id": "3123586", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3123586" }, { "id": "7295752", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/7295752" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 94, "end_pos": 94, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "11", "chr_pos": "116832864", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "T94", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P02656", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P02656" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 94, "end_pos": 94, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->I).", "chr_id": "11", "chr_pos": "116832865", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T94", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "76.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000110245", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110245" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "42.91", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000110245", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110245" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "49.35", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000110245", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110245" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000110245", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110245" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "71.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000110245", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110245" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "34.35", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000110245", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110245" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000110245", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110245" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "54.07", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000110245", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110245" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "50.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000110245", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110245" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000110245", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110245" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "99.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000110245", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110245" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "60.42", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000110245", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110245" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "51.67", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000110245", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110245" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P02656", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02656" } ], "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, 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"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", 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"resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P02656", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02656" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P02656", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02656" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"Glycoproteomics" ] }, { "id": "PR:000052506", "url": "https://proconsortium.org/app/entry/PR:000052506", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_P02656", "url": "http://purl.obolibrary.org/obo/PR_P02656", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-8963888", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963888", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8963901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963901", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8964058", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964058", "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_000031", "url": 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Reported structure can be attached to the following: THR-94 ; THR-94", "start_pos": 94, "start_aa": "Thr", "end_pos": 94, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr94", "evidence": [ { "id": "P02656", "database": "UniCarbKB", "url": "" }, { "id": "208636", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/208636" }, { "id": "58", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/58" } ] }, { "glytoucan_ac": "G68008QO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 94, "start_aa": "Thr", "end_pos": 94, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr94", "evidence": [ { "id": "58", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/58" }, { "id": "24417605", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24417605" } ] }, { "glytoucan_ac": "G74722FL", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 94, "start_aa": "Thr", "end_pos": 94, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr94", "evidence": [ { "id": "58", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/58" }, { "id": "208636", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/208636" } ] }, { "glytoucan_ac": "G81006GJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 94, "start_aa": "Thr", "end_pos": 94, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr94", "evidence": [ { "id": "58", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/58" }, { "id": "208636", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/208636" }, { "id": "24417605", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24417605" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine O-GalNAcylation", "start_pos": 94, "start_aa": "Thr", "end_pos": 94, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr94", "evidence": [ { "id": "P02656", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02656#ptm_processing" }, { "id": "3123586", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3123586" }, { "id": "19838169", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19838169" }, { "id": "23527852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23527852" } ] } ], "phosphorylation": [ { "start_pos": 82, "end_pos": 82, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P02656", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02656" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser82" }, { "start_pos": 94, "end_pos": 94, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P02656", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02656" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Thr94" }, { "start_pos": 95, "end_pos": 95, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P02656", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02656" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser95" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported" ], "publication": [ { "title": "Proteomics Analysis of O-GalNAc Glycosylation in Human Serum by an Integrated Strategy", "journal": "Anal. Chem.", "date": "2017", "authors": "Qin H., Cheng K., Zhu J., Mao J., Wang F., Dong M., Chen R., Guo Z., Liang X., Ye M., Zou H.", "evidence": [ { "database": "UniCarbKB", "id": "P02656", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1021/acs.analchem.6b02887", "url": "https://glygen.org/publication/DOI/10.1021/acs.analchem.6b02887" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "P02656", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "The structure of human retinol-binding protein (RBP) with its carrier protein transthyretin reveals an interaction with the carboxy terminus of RBP.", "journal": "Biochemistry", "date": "1999", "authors": "Naylor HM, Newcomer ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "10052934", "url": "https://glygen.org/publication/PubMed/10052934" } ] }, { "title": "Hydrolysis of retinyl esters by pancreatic triglyceride lipase.", "journal": "Biochemistry", "date": "2000", "authors": "van Bennekum AM, Fisher EA, Blaner WS, Harrison EH", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "10769148", "url": "https://glygen.org/publication/PubMed/10769148" } ] }, { "title": "Rapid initial removal of chylomicron remnants by the mouse liver does not require hepatically localized apolipoprotein E.", "journal": "Journal of lipid research", "date": "2000", "authors": "Yu KC, Jiang Y, Chen W, Cooper AD", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "11060341", "url": "https://glygen.org/publication/PubMed/11060341" } ] }, { "title": "Retinyl ester secretion by intestinal cells: a specific and regulated process dependent on assembly and secretion of chylomicrons.", "journal": "Journal of lipid research", "date": "2001", "authors": "Nayak N, Harrison EH, Hussain MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "11181758", "url": "https://glygen.org/publication/PubMed/11181758" } ] }, { "title": "Identification, retinoid binding, and x-ray analysis of a human retinol-binding protein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Folli C, Calderone V, Ottonello S, Bolchi A, Zanotti G, Stoppini M, Berni R", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "11274389", "url": "https://glygen.org/publication/PubMed/11274389" } ] }, { "title": "Microsomal triglyceride transfer protein and its role in apoB-lipoprotein assembly.", "journal": "Journal of lipid research", "date": "2003", "authors": "Hussain MM, Shi J, Dreizen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963888", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963888" } ], "reference": [ { "type": "PubMed", "id": "12518019", "url": "https://glygen.org/publication/PubMed/12518019" } ] }, { "title": "Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.", "journal": "Nature genetics", "date": "2003", "authors": "Jones B, Jones EL, Bonney SA, Patel HN, Mensenkamp AR, Eichenbaum-Voline S, Rudling M, Myrdal U, Annesi G, Naik S, Meadows N, Quattrone A, Islam SA, Naoumova RP, Angelin B, Infante R, Levy E, Roy CC, Freemont PS, Scott J, Shoulders CC", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963888", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963888" } ], "reference": [ { "type": "PubMed", "id": "12692552", "url": "https://glygen.org/publication/PubMed/12692552" } ] }, { "title": "Human lipoprotein lipase: relationship of activity, heparin affinity, and conformation as studied with monoclonal antibodies.", "journal": "Journal of lipid research", "date": "1992", "authors": "Peterson J, Fujimoto WY, Brunzell JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "1279089", "url": "https://glygen.org/publication/PubMed/1279089" } ] }, { "title": 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"pmid": "" }, { "name": "chylomicron remnant clearance", "id": "GO:0034382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034382", "evidence": [ { "database": "UniProtKB", "id": "P02656", "url": "https://www.uniprot.org/uniprot/P02656" } ], "pmid": "" }, { "name": "negative regulation of lipid metabolic process", "id": "GO:0045833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045833", "evidence": [ { "database": "UniProtKB", "id": "P02656", "url": "https://www.uniprot.org/uniprot/P02656" } ], "pmid": "" }, { "name": "negative regulation of triglyceride catabolic process", "id": "GO:0010897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010897", "evidence": [ { "database": "UniProtKB", "id": "P02656", "url": "https://www.uniprot.org/uniprot/P02656" } ], "pmid": "" }, { "name": "negative regulation of high-density lipoprotein particle clearance", "id": "GO:0010987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010987", "evidence": [ { "database": "UniProtKB", "id": "P02656", 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[PRO:DNx, PMID:26598643]", "evidence": [ { "id": "PR:000052504", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052504" } ] }, { "name": "apolipoprotein C-III O-glycosylated 3 (human)", "definition": "An apolipoprotein C-III (human) that has been O-glycosylated at the residue equivalent to Thr-94 of the amino acid sequence represented by UniProtKB:P02656-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02656-1, Thr-94, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:22171320, PMID:23234360]", "evidence": [ { "id": "PR:000052505", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052505" } ] }, { "name": "apolipoprotein C-III O-glycosylated 4 (human)", "definition": "An apolipoprotein C-III (human) that has been O-glycosylated at the residue equivalent to Thr-94 of the amino acid sequence represented by UniProtKB:P02656-1, in which the glycan structure is represented by GlyTouCan:G65562ZE. Example: UniProtKB:P02656-1, Thr-94, MOD:00005~GNO:G65562ZE. [PRO:DNx, PMID:208636]", "evidence": [ { "id": "PR:000052506", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052506" } ] } ], "site_annotation": [], "ptm_annotation": [ { "annotation": "The most abundant glycoforms are characterized by an O-linked disaccharide galactose linked to N-acetylgalactosamine (Gal-GalNAc), further modified with up to 3 sialic acid residues. Less abundant glycoforms are characterized by more complex and fucosylated glycan moieties. O-glycosylated on Thr-94 with a core 1 or possibly core 8 glycan.", "evidence": [ { "database": "UniProtKB", "id": "P02656", "url": "https://www.uniprot.org/uniprot/P02656" }, { "database": "PubMed", "id": "19838169", "url": "https://glygen.org/publication/PubMed/19838169" }, { "database": "PubMed", "id": "23527852", "url": "https://glygen.org/publication/PubMed/23527852" }, { "database": "PubMed", "id": "3123586", "url": "https://glygen.org/publication/PubMed/3123586" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 79, 81, 94 ], "snv_sites": [ 80, 94 ], "glycation_sites": [], "phosphorylation_sites": [ 82, 94, 95 ], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 11 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 9 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "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": 1 }, { "field": "total_sites", "count": 1 }, { "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": 1 } ], "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": 10 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 9 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "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": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 2 } ], "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": 1 }, { "field": "total_sites", "count": 1 } ], "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": 2 }, { "field": "total_sites", "count": 2 } ], "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": 87 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }