{ "uniprot_canonical_ac": "P06858-1", "uniprot_ac": "P06858", "uniprot_id": "LIPL_HUMAN", "mass": { "chemical_mass": 53162.0, "monoisotopic_mass": 53162.0 }, "refseq": { "ac": "NP_000228", "name": "lipoprotein lipase precursor", "summary": "LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000228" }, "gene_names": [ { "name": "LPL", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P06858", "id": "P06858" }, { "name": "HDLCQ11; LIPD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000228", "id": "NP_000228" }, { "name": "LIPD", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P06858", "id": "P06858" }, { "name": "LPL", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000228", "id": "NP_000228" } ], "protein_names": [ { "name": "Lipoprotein lipase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P06858" }, { "name": "3.1.1.32", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P06858" }, { "name": "3.1.1.34", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P06858" }, { "name": "LPL", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P06858" }, { "name": "Phospholipase A1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P06858" }, { "name": "lipoprotein lipase precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000228", "id": "NP_000228" }, { "name": "phospholipase A1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000228", "id": "NP_000228" } ], "function": [ { "annotation": "Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency.", "evidence": [ { "database": "RefSeq", "id": "NP_000228", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000228" }, { "database": "PubMed", "id": "37858495", "url": "https://glygen.org/publication/PubMed/37858495" } ] }, { "annotation": "Developing a model to predict the early risk of hypertriglyceridemia based on inhibiting lipoprotein lipase (LPL): a translational study. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000228", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000228" }, { "database": "PubMed", "id": "38114521", "url": "https://glygen.org/publication/PubMed/38114521" } ] }, { "annotation": "Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to date. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000228", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000228" }, { "database": "PubMed", "id": "37568214", "url": "https://glygen.org/publication/PubMed/37568214" } ] }, { "annotation": "Key enzyme in triglyceride metabolism. Catalyzes the hydrolysis of triglycerides from circulating chylomicrons and very low density lipoproteins (VLDL), and thereby plays an important role in lipid clearance from the blood stream, lipid utilization and storage (PubMed:8675619, PubMed:11342582, PubMed:27578112). Although it has both phospholipase and triglyceride lipase activities it is primarily a triglyceride lipase with low but detectable phospholipase activity (PubMed:7592706, PubMed:12032167). Mediates margination of triglyceride-rich lipoprotein particles in capillaries (PubMed:24726386). Recruited to its site of action on the luminal surface of vascular endothelium by binding to GPIHBP1 and cell surface heparan sulfate proteoglycans (PubMed:11342582, PubMed:27811232).", "evidence": [ { "database": "UniProtKB", "id": "P06858", "url": "https://www.uniprot.org/uniprot/P06858#function" }, { "database": "PubMed", "id": "27578112", "url": "https://glygen.org/publication/PubMed/27578112" }, { "database": "PubMed", "id": "7592706", "url": "https://glygen.org/publication/PubMed/7592706" }, { "database": "PubMed", "id": "24726386", "url": "https://glygen.org/publication/PubMed/24726386" }, { "database": "PubMed", "id": "11342582", "url": "https://glygen.org/publication/PubMed/11342582" }, { "database": "PubMed", "id": "27811232", "url": "https://glygen.org/publication/PubMed/27811232" }, { "database": "PubMed", "id": "8675619", "url": "https://glygen.org/publication/PubMed/8675619" }, { "database": "PubMed", "id": "12032167", "url": "https://glygen.org/publication/PubMed/12032167" } ] }, { "annotation": "LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000228", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000228" } ] }, { "annotation": "The Association of Adipokines and Myokines in the Blood of Obese Children and Adolescents with Lipoprotein Lipase rs328 Gene Variants. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000228", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000228" }, { "database": "PubMed", "id": "37901192", "url": "https://glygen.org/publication/PubMed/37901192" } ] }, { "annotation": "The lipoprotein lipase that is shuttled into capillaries by GPIHBP1 enters the glycocalyx where it mediates lipoprotein processing.", "evidence": [ { "database": "RefSeq", "id": "NP_000228", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000228" }, { "database": "PubMed", "id": "37871217", "url": "https://glygen.org/publication/PubMed/37871217" } ] } ], "disease": [ { "disease_id": "DOID:13809", "recommended_name": { "id": "DOID:13809", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13809", "name": "familial combined hyperlipidemia", "description": "" }, "synonyms": [ { "id": "DOID:13809", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13809", "name": "familial multiple lipoprotein-type hyperlipidemia", "description": "" }, { "id": "DOID:13809", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13809", "name": "mixed hyperlipidaemia", "description": "" }, { "id": "DOID:13809", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13809", "name": "type IIb hyperlipoproteinemia", "description": "" }, { "id": "DOID:13809", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13809", "name": "hyperbetalipoproteinemia with prebetalipoproteinemia", "description": "" }, { "id": "MONDO:0007759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007759", "name": "hyperlipidemia, familial combined, LPL related", "description": "" }, { "id": "MONDO:0007759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007759", "name": "combined hyperlipidemia, familial", "description": "" }, { "id": "MONDO:0007759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007759", "name": "FCHL", "description": "" }, { "id": "MONDO:0007759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007759", "name": "familial combined hyperlipidemia", "description": "" }, { "id": "MONDO:0007759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007759", "name": "hyperlipidemia, familial combined", "description": "" }, { "id": "MIM:144250", "resource": "MIM", "url": "https://www.omim.org/entry/144250", "name": "Hyperlipidemia, familial combined, 3", "description": "Hyperlipidemia, familial combined, 3" } ], "evidence": [ { "id": "144250", "database": "MIM", "url": "https://www.omim.org/entry/144250" } ] }, { "disease_id": "DOID:14118", "recommended_name": { "id": "DOID:14118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14118", "name": "familial lipoprotein lipase deficiency", "description": "A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides." }, "synonyms": [ { "id": "DOID:14118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14118", "name": "Fredrickson type I hyperlipoproteinemia", "description": "" }, { "id": "DOID:14118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14118", "name": "Fredrickson type I lipaemia", "description": "" }, { "id": "DOID:14118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14118", "name": "familial LPL deficiency", "description": "" }, { "id": "DOID:14118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14118", "name": "familial chylomicronemia syndrome", "description": "" }, { "id": "DOID:14118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14118", "name": "familial hyperlipoproteinemia type I", "description": "" }, { "id": "DOID:14118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14118", "name": "hypercholesterinaemic xanthomatosis", "description": "" }, { "id": "DOID:14118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14118", "name": "hyperchylomicronemia", "description": "" }, { "id": "DOID:14118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14118", "name": "mixed hyperglyceridemia", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "familial lipoprotein lipase deficiency", "description": "Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines." }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "Fredrickson type I hyperlipoproteinemia", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "Fredrickson type I lipaemia", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "LPL deficiency", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "familial LPL deficiency", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "familial chylomiconemia syndrome", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "familial hyperlipoproteinemia type I", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "familial lipoprotein lipase deficiency (disorder) [ambiguous]", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "familial lipoprotein lipase deficiency with type I phenotype", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "high density lipoprotein cholesterol level QTL 11", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "hypercholesterinaemic xanthomatosis", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "hyperchylomicronemia", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "hyperlipoproteinemia type I", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "mixed hyperglyceridemia", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "Burger-Grutz syndrome", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "chylomicronemia, familial", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "endogenous hypertriglyceridaemia", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "familial fat-induced hypertriglyceridemia", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "familial hyperchylomicronemia", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "hyperchylomicronemia, familial", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "hyperlipemia, essential familial", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "hyperlipemia, idiopathic, Burger-Grutz type", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "hyperlipoproteinemia, type 1", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "hyperlipoproteinemia, type 1A", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "hyperlipoproteinemia, type I", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "lipase D deficiency", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "lipd deficiency", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "lipoprotein lipase deficiency", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "lipoprotein lipase deficiency, familial", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "type I hyperlipoproteinemia", "description": "" }, { "id": "MIM:238600", "resource": "MIM", "url": "https://www.omim.org/entry/238600", "name": "Hyperlipoproteinemia 1", "description": "Hyperlipoproteinemia 1" } ], "evidence": [ { "id": "238600", "database": "MIM", "url": "https://www.omim.org/entry/238600" } ] } ], "snv": [ { "evidence": [ { "id": "rs753632194", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753632194" }, { "id": "rs753632194", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753632194" }, { "id": "rs753632194", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753632194#frequency_tab" }, { "id": "rs753632194", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753632194" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 170, "end_pos": 170, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLT->NLT).", "chr_id": "8", "chr_pos": "19953389", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S170", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1186635449", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1186635449" }, { "id": "rs1186635449", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1186635449#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 17, "end_pos": 17, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLT->NLT).", "chr_id": "8", "chr_pos": "19939490", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S17", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1276587631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1276587631" }, { "id": "rs1276587631", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1276587631" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 265, "end_pos": 265, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KCS->NCS).", "chr_id": "8", "chr_pos": "19955860", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K265", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1489499895", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1489499895" }, { "id": "rs1489499895", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1489499895#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 314, "end_pos": 314, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLG->NLS).", "chr_id": "8", "chr_pos": "19956005", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G314", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs118204071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs118204071" }, { "id": "rs118204071", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs118204071" }, { "id": "8096693", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8096693" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 361, "end_pos": 361, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQA->NQT).", "chr_id": "8", "chr_pos": "19959322", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A361", "disease": [ { "disease_id": "DOID:13809", "recommended_name": { "id": "DOID:13809", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13809", "name": "familial combined hyperlipidemia", "description": "" }, "synonyms": [ { "id": "DOID:13809", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13809", "name": "familial multiple lipoprotein-type hyperlipidemia", "description": "" }, { "id": "DOID:13809", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13809", "name": "mixed hyperlipidaemia", "description": "" }, { "id": "DOID:13809", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13809", "name": "type IIb hyperlipoproteinemia", "description": "" }, { "id": "DOID:13809", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13809", "name": "hyperbetalipoproteinemia with prebetalipoproteinemia", "description": "" }, { "id": "MONDO:0007759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007759", "name": "hyperlipidemia, familial combined, LPL related", "description": "" }, { "id": "MONDO:0007759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007759", "name": "combined hyperlipidemia, familial", "description": "" }, { "id": "MONDO:0007759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007759", "name": "FCHL", "description": "" }, { "id": "MONDO:0007759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007759", "name": "familial combined hyperlipidemia", "description": "" }, { "id": "MONDO:0007759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007759", "name": "hyperlipidemia, familial combined", "description": "" }, { "id": "MIM:144250", "resource": "MIM", "url": "https://www.omim.org/entry/144250", "name": "Hyperlipidemia, familial combined, 3", "description": "Hyperlipidemia, familial combined, 3" } ] }, { "disease_id": "DOID:14118", "recommended_name": { "id": "DOID:14118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14118", "name": "familial lipoprotein lipase deficiency", "description": "A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides." }, "synonyms": [ { "id": "DOID:14118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14118", "name": "Fredrickson type I hyperlipoproteinemia", "description": "" }, { "id": "DOID:14118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14118", "name": "Fredrickson type I lipaemia", "description": "" }, { "id": "DOID:14118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14118", "name": "familial LPL deficiency", "description": "" }, { "id": "DOID:14118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14118", "name": "familial chylomicronemia syndrome", "description": "" }, { "id": "DOID:14118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14118", "name": "familial hyperlipoproteinemia type I", "description": "" }, { "id": "DOID:14118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14118", "name": "hypercholesterinaemic xanthomatosis", "description": "" }, { "id": "DOID:14118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14118", "name": "hyperchylomicronemia", "description": "" }, { "id": "DOID:14118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14118", "name": "mixed hyperglyceridemia", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "familial lipoprotein lipase deficiency", "description": "Familial lipoprotein lipase 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}, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P06858", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06858" } ], "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", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P06858", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06858" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06858" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"MESKALLVLTLAVWLQSLTASRGGVAAADQRRDFIDIESKFALRTPEDTAEDTCHLIPGVAESVATCHFNHSSKTFMVIHGWTVTGMYESWVPKLVAALYKREPDSNVIVVDWLSRAQEHYPVSAGYTKLVGQDVARFINWMEEEFNYPLDNVHLLGYSLGAHAAGIAGSLTNKKVNRITGLDPAGPNFEYAEAPSRLSPDDADFVDVLHTFTRGSPGRSIGIQKPVGHVDIYPNGGTFQPGCNIGEAIRVIAERGLGDVDQLVKCSHERSIHLFIDSLLNEENPSKAYRCSSKEAFEKGLCLSCRKNRCNNLGYEINKVRAKRSSKMYLKTRSQMPYKVFHYQVKIHFSGTESETHTNQAFEISLYGTVAESENIPFTLPEVSTNKTYSFLIYTEVDIGELLMLKLKWKSDSYFSWSDWWSSPGFAIQKIRVKAGETQKKVIFCSREKVSHLQKGKAPAVFVKCHDKSLNKKSG", "length": 475, "header": "sp|P06858-1|LIPL_HUMAN Isoform 1 of Lipoprotein lipase OS=Homo sapiens OX=9606 GN=LPL PE=1 SV=1 CANONICAL=P06858-1" }, "isoforms": [ { "isoform_ac": "A0A3B3IT60-1", "url": "", "sequence": { "sequence": "GYEINKVRAKRSSKMYLKTRSQMPYKGLKFPQIRPTPS", "length": 38, "header": "tr|A0A3B3IT60-1|A0A3B3IT60_HUMAN Computationally mapped isoform of Lipoprotein lipase OS=Homo sapiens OX=9606 GN=LPL PE=4 SV=1 CANONICAL=P06858-1" }, "locus": { "chromosome": "8", "start_pos": 19960935, "end_pos": 19956005, 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"sequence": { "sequence": "MESKALLVLTLAVWLQSLTASRGGVAAADQRRDFIDIESKFALRTPEDTAEDTCHLIPGVAESVATCHFNHSSKTFMVIHGWTVTGMYESWVPKLVAALYKREPDSNVIVVDWLSRAQEHYPVSAGYTK", "length": 129, "header": "tr|E5RJI0-1|E5RJI0_HUMAN Computationally mapped isoform of Phospholipase A1 OS=Homo sapiens OX=9606 GN=LPL PE=1 SV=8 CANONICAL=P06858-1" }, "locus": { "chromosome": "8", "start_pos": 19951906, "end_pos": 19939441, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000524029.5", "url": "https://www.ensembl.org/id/ENST00000524029.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428237.1", "url": "https://www.ensembl.org/id/ENSP00000428237.1" } ] } }, { "isoform_ac": "E5RJZ4-1", "url": "", "sequence": { "sequence": "MESKALLVLTLAVWLQSLTASRGGVAAADLILKLQIFKF", "length": 39, "header": "tr|E5RJZ4-1|E5RJZ4_HUMAN Computationally mapped isoform of Lipoprotein lipase OS=Homo sapiens OX=9606 GN=LPL PE=1 SV=1 CANONICAL=P06858-1" }, "locus": { "chromosome": "8", "start_pos": 19946570, "end_pos": 19939441, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000519773.1", "url": "https://www.ensembl.org/id/ENST00000519773.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000431028.1", "url": "https://www.ensembl.org/id/ENSP00000431028.1" } ] } }, { "isoform_ac": "E7EW14-1", "url": "", "sequence": { "sequence": "MVIHGWTVTGMYESWVPKLVAALYKREPDSNVIVVDWLSRAQEHYPVSAGYTKLVGQDVARFINWMEEEFNYPLDNVHLLGYSLGAHAAGIAGSLTNKKVNRITGLDPAGPNFEY", "length": 115, "header": "tr|E7EW14-1|LIPL_HUMAN Computationally mapped isoform of Lipoprotein lipase OS=Homo sapiens OX=9606 GN=LPL PE=1 SV=1 CANONICAL=P06858-1" }, "locus": { "chromosome": "8", "start_pos": 19954151, "end_pos": 19948320, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000520959.5", "url": "https://www.ensembl.org/id/ENST00000520959.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428496.1", "url": "https://www.ensembl.org/id/ENSP00000428496.1" } ] } }, { "isoform_ac": "P06858-1", "url": "", "sequence": { "sequence": "MESKALLVLTLAVWLQSLTASRGGVAAADQRRDFIDIESKFALRTPEDTAEDTCHLIPGVAESVATCHFNHSSKTFMVIHGWTVTGMYESWVPKLVAALYKREPDSNVIVVDWLSRAQEHYPVSAGYTKLVGQDVARFINWMEEEFNYPLDNVHLLGYSLGAHAAGIAGSLTNKKVNRITGLDPAGPNFEYAEAPSRLSPDDADFVDVLHTFTRGSPGRSIGIQKPVGHVDIYPNGGTFQPGCNIGEAIRVIAERGLGDVDQLVKCSHERSIHLFIDSLLNEENPSKAYRCSSKEAFEKGLCLSCRKNRCNNLGYEINKVRAKRSSKMYLKTRSQMPYKVFHYQVKIHFSGTESETHTNQAFEISLYGTVAESENIPFTLPEVSTNKTYSFLIYTEVDIGELLMLKLKWKSDSYFSWSDWWSSPGFAIQKIRVKAGETQKKVIFCSREKVSHLQKGKAPAVFVKCHDKSLNKKSG", "length": 475, "header": "sp|P06858-1|LIPL_HUMAN Isoform 1 of Lipoprotein lipase OS=Homo sapiens OX=9606 GN=LPL PE=1 SV=1 CANONICAL=P06858-1" }, "locus": { "chromosome": "8", "start_pos": 19962219, "end_pos": 19939441, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000650287.1", "url": "https://www.ensembl.org/id/ENST00000650287.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497642.1", "url": 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Potential interaction with the polymorphic marker D1S104 on chromosome 1q21-q23.", "journal": "Journal of lipid research", "date": "2000", "authors": "Holzl B, Kraft HG, Wiebusch H, Sandhofer A, Patsch J, Sandhofer F, Paulweber B", "evidence": [ { "database": "UniProtKB", "id": "P06858", "url": "https://www.uniprot.org/uniprot/P06858" } ], "reference": [ { "type": "PubMed", "id": "10787434", "url": "https://glygen.org/publication/PubMed/10787434" } ] }, { "title": "The proprotein convertases furin and PACE4 play a significant role in tumor progression.", "journal": "Molecular carcinogenesis", "date": "2000", "authors": "Bassi DE, Mahloogi H, Klein-Szanto AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "10900462", "url": "https://glygen.org/publication/PubMed/10900462" } ] }, { "title": "Rapid initial removal of chylomicron remnants by the mouse liver does 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A G-to-T transversion at the first position of exon 5 causing G154V missense mutation and a 5' splice site mutation of intron 8.", "journal": "Journal of lipid research", "date": "2001", "authors": "Ikeda Y, Takagi A, Nakata Y, Sera Y, Hyoudou S, Hamamoto K, Nishi Y, Yamamoto A", "evidence": [ { "database": "UniProtKB", "id": "P06858", "url": "https://www.uniprot.org/uniprot/P06858" } ], "reference": [ { "type": "PubMed", "id": "11441134", "url": "https://glygen.org/publication/PubMed/11441134" } ] }, { "title": "Regional differences in the response of human pre-adipocytes to PPARgamma and RXRalpha agonists.", "journal": "Diabetes", "date": "2002", "authors": "Sewter CP, Blows F, Vidal-Puig A, O'Rahilly S", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "11872672", "url": "https://glygen.org/publication/PubMed/11872672" } ] }, { "title": "Structural and functional 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Analysis of the catalytic triad by site-directed mutagenesis of Ser-132, Asp-156, and His-241.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Emmerich J, Beg OU, Peterson J, Previato L, Brunzell JD, Brewer HB Jr, Santamarina-Fojo S", "evidence": [ { "database": "UniProtKB", "id": "P06858", "url": "https://www.uniprot.org/uniprot/P06858" } ], "reference": [ { "type": "PubMed", "id": "1371284", "url": "https://glygen.org/publication/PubMed/1371284" } ] }, { "title": "Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Hata A, Ridinger DN, Sutherland SD, Emi M, Kwong LK, Shuhua J, Lubbers A, Guy-Grand B, Basdevant A, Iverius PH, et al.", "evidence": [ { "database": "UniProtKB", "id": "P06858", "url": "https://www.uniprot.org/uniprot/P06858" } ], "reference": [ { "type": "PubMed", "id": "1400331", "url": "https://glygen.org/publication/PubMed/1400331" } ] }, { "title": "Characterization of the human lipoprotein lipase (LPL) promoter: evidence of two cis-regulatory regions, LP-alpha and LP-beta, of importance for the differentiation-linked induction of the LPL gene during adipogenesis.", "journal": "Mol. Cell. 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Molecular model based on the pancreatic lipase X-ray structure: consequences for heparin binding and catalysis.", "journal": "J. Biol. 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Mild hypertriglyceridemia with impaired very low density lipoprotein clearance in heterozygotes.", "journal": "The Journal of clinical investigation", "date": "1995-12", "authors": "Weinstock P H, Bisgaier C L, Aalto-Set\u00e4l\u00e4 K, Radner H, Ramakrishnan R, Levak-Frank S, Essenburg A D, Zechner R, Breslow J L", "evidence": [ { "database": "UniProtKB", "id": "P06858", "url": "https://www.uniprot.org/uniprot/P06858" } ], "reference": [ { "type": "PubMed", "id": "8675619", "url": "https://glygen.org/publication/PubMed/8675619" } ] }, { "title": "A human peroxisome-proliferator-activated receptor-gamma is activated by inducers of adipogenesis, including thiazolidinedione drugs.", "journal": "European journal of biochemistry", "date": "1996", "authors": "Lambe KG, Tugwood JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "8706692", "url": 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Dallinga-Thie GM, Humphries SE", "evidence": [ { "database": "UniProtKB", "id": "P06858", "url": "https://www.uniprot.org/uniprot/P06858" } ], "reference": [ { "type": "PubMed", "id": "8872057", "url": "https://glygen.org/publication/PubMed/8872057" } ] }, { "title": "Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia.", "journal": "Human mutation", "date": "1996", "authors": "Wiebusch H, Funke H, Bruin T, Bucher H, von Eckardstein A, Kastelein JJ, Assmann G", "evidence": [ { "database": "UniProtKB", "id": "P06858", "url": "https://www.uniprot.org/uniprot/P06858" } ], "reference": [ { "type": "PubMed", "id": "8956048", "url": "https://glygen.org/publication/PubMed/8956048" } ] }, { "title": "A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia.", "journal": "Human mutation", "date": "1996", "authors": "Wiebusch H, Funke H, Santer R, Richter W, Assmann G", "evidence": [ { "database": "UniProtKB", "id": "P06858", "url": "https://www.uniprot.org/uniprot/P06858" } ], "reference": [ { "type": "PubMed", "id": "8956052", "url": "https://glygen.org/publication/PubMed/8956052" } ] }, { "title": "Peroxisome proliferator-activated receptors: a nuclear receptor signaling pathway in lipid physiology.", "journal": "Annual review of cell and developmental biology", "date": "1996", "authors": "Lemberger T, Desvergne B, Wahli W", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "8970730", "url": "https://glygen.org/publication/PubMed/8970730" } ] }, { "title": "Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250-->Asn; Ser251-->Cys) resulting in lipoprotein lipase (LPL) deficiency.", "journal": "The Netherlands journal of medicine", "date": "1996-11", 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international journal of clinical chemistry", "date": "1998", "authors": "Henderson H, Leisegang F, Hassan F, Hayden M, Marais D", "evidence": [ { "database": "UniProtKB", "id": "P06858", "url": "https://www.uniprot.org/uniprot/P06858" } ], "reference": [ { "type": "PubMed", "id": "9498099", "url": "https://glygen.org/publication/PubMed/9498099" } ] }, { "title": "DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene.", "journal": "Nature genetics", "date": "1998", "authors": "Nickerson DA, Taylor SL, Weiss KM, Clark AG, Hutchinson RG, Stengard J, Salomaa V, Vartiainen E, Boerwinkle E, Sing CF", "evidence": [ { "database": "UniProtKB", "id": "P06858", "url": "https://www.uniprot.org/uniprot/P06858" } ], "reference": [ { "type": "PubMed", "id": "9662394", "url": "https://glygen.org/publication/PubMed/9662394" } ] }, { "title": "Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event.", "journal": "American journal of medical genetics", "date": "1998", "authors": "Henderson HE, Bijvoet SM, Mannens MA, Bruin T, Erkelens DW, Hayden MR, Kastelein JJ", "evidence": [ { "database": "UniProtKB", "id": "P06858", "url": "https://www.uniprot.org/uniprot/P06858" } ], "reference": [ { "type": "PubMed", "id": "9714430", "url": "https://glygen.org/publication/PubMed/9714430" } ] }, { "title": "Common genetic variants of lipoprotein lipase and apolipoproteins AI-CIII that relate to coronary artery disease: a study in Chinese and European subjects.", "journal": "Molecular genetics and metabolism", "date": "1998", "authors": "Zhang Q, Liu Y, Liu BW, Fan P, Cavanna J, Galton DJ", "evidence": [ { "database": "UniProtKB", "id": "P06858", "url": "https://www.uniprot.org/uniprot/P06858" } ], "reference": [ { "type": "PubMed", "id": "9719626", "url": "https://glygen.org/publication/PubMed/9719626" } ] }, { "title": "N-(2-Benzoylphenyl)-L-tyrosine PPARgamma agonists. 1. 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071813", "evidence": [ { "database": "UniProtKB", "id": "P06858", "url": "https://www.uniprot.org/uniprot/P06858" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 386, "end_pos": 388, "annotation": "n_glycosylation_sequon" }, { "start_pos": 70, "end_pos": 72, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "12044", "name": "", "equation": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P07882-1", "Q9QZH8-1", "Q06000-1", "P04634-1", "P54318-1", "Q8VBX1-1", "P07867-1", "P15304-1", "P27657-1", "P0C548-1", "P54316-1", "P0C1S9-1", "O54728-1", "P08910-1", "P22760-1", "P19835-1", "P54315-1", "Q9Y5X9-1", "P54317-1", "Q17RR3-1", "P07098-1", "P16233-1", "Q05469-1", "P06858-1", "P11150-1", "Q9NST1-1", "Q96AD5-1", "P41247-1", "Q6P1J6-1", "Q8NCG7-1", "Q7Z6Z6-1", "Q99PG0-1", "Q9QXM0-1", "Q64285-1", "P54310-1", "P27656-1", "P17892-1", "Q9WVG5-1", "Q9CPP7-1", "P11152-1", "Q6P8U6-1", "Q91WW7-1", "Q8BJ56-1", "Q91WC9-1", "Q32LZ8-1", "Q3TTY0-1", "P25641-1", "P54857-1", "P40308-1", "P40471-1", "Q12043-1", "P36165-1", "P38139-1", "Q06522-1", "P47145-1", "Q9VMM8-1" ], "evidence": [ { "id": "12044", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/12044" } ] }, { "id": "18689", "name": "", "equation": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P53817-1", "D3ZRC4-1", "P07867-1", "Q06000-1", "Q8VBX1-1", "Q675A5-1", "D2KX21-1", "Q4KLN5-1", "Q8WU67-1", "Q9HDD0-1", "Q9UL19-1", "Q9NWW9-1", "Q96KN8-1", "P53816-1", "P11150-1", "Q9Y5X9-1", "P06858-1", "Q8NCC3-1", "Q9NP80-1", "Q8NEL9-1", "Q91ZH7-1", "Q9CPX5-1", "Q9QZU4-1", "Q8R3U1-1", "Q8K1N1-1", "P11152-1", "Q8VEB4-1", "P27656-1", "Q9WVG5-1", "Q80YA3-1" ], "evidence": [ { "id": "18689", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/18689" } ] }, { "id": "38575", "name": "", "equation": "1,2,3-tri-(9Z-octadecenoyl)-glycerol + H2O = (9Z)-octadecenoate + di-(9Z)-octadecenoylglycerol + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P07882-1", "O54728-1", "P54318-1", "P07867-1", "P15304-1", "Q06000-1", "Q8VBX1-1", "P27657-1", "P19835-1", "P16233-1", "Q6P1J6-1", "P11150-1", "Q9Y5X9-1", "P06858-1", "Q05469-1", "P54317-1", "Q6P8U6-1", "Q64285-1", "P54310-1", "P17892-1", "P11152-1", "Q3TTY0-1", "P27656-1", "Q9WVG5-1", "P54857-1", "P40308-1", "P40471-1", "P36165-1", "Q9VMM8-1" ], "evidence": [ { "id": "38575", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/38575" } ] }, { "id": "38699", "name": "", "equation": "1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + H2O = (9Z)-octadecenoate + (9Z-octadecenoyl)-sn-glycero-3-phosphocholine + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P07867-1", "Q06000-1", "Q675A5-1", "P11150-1", "P06858-1", "Q8NCC3-1", "P11152-1", "Q8VEB4-1", "P27656-1" ], "evidence": [ { "id": "38699", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/38699" } ] }, { "id": "40475", "name": "", "equation": "1,2,3-tributanoylglycerol + H2O = butanoate + dibutanoylglycerol + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P54318-1", "P07867-1", "Q06000-1", "Q8VBX1-1", "P27657-1", "P16233-1", "Q9Y5X9-1", "P06858-1", "P11150-1", "P54317-1", "Q6P8U6-1", "P17892-1", "P11152-1", "P27656-1", "Q9WVG5-1", "P54857-1" ], "evidence": [ { "id": "40475", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/40475" } ] }, { "id": "41384", "name": "", "equation": "1,2-dihexadecanoyl-sn-glycero-3-phosphocholine + H2O = H(+) + hexadecanoate + hexadecanoyl-sn-glycero-3-phosphocholine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P53817-1", "P07867-1", "Q06000-1", "Q8VBX1-1", "P53816-1", "P11150-1", "Q9Y5X9-1", "P06858-1", "Q8R3U1-1", "P11152-1", "P27656-1", "Q9WVG5-1" ], "evidence": [ { "id": "41384", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/41384" } ] }, { "id": "R-HSA-174757", "name": "chylomicron => TG-depleted chylomicron + 50 long-chain fatty acids + 50 diacylglycerols", "equation": "", "summary": "Lipoprotein lipase dimers (LPL:LPL) are tethered to heparan sulfate proteoglycans (HSPG) at endothelial cell surfaces (Fernandez-Borja et al. 1996; Peterson et al. 1992). Both syndecan 1 (Rosenberg et al. 1997) and perlecan (Goldberg 1996) HSPG molecules are capable of tethering LPL. The LPL enzyme catalyzes the hydrolysis and release of triacylglycerols (TG) associated with circulating chylomicrons to leave a CM remnant (CR). This reaction is annotated here as causing the hydrolysis and release of 50 molecules of TG. In vivo, the number is much larger, and TG depletion probably occurs in the course of multiple encounters between a chylomicron and endothelial LPL. This reaction is strongly activated by chylomicron-associated apo C-II protein both in vivo and in vitro (Jackson et al. 1986). Chylomicron-associated apoC-II protein inhibits LPL activity in vitro (Brown and Baginsky 1972), and recent studies have indicated a positive regulatory role for apoA-5 protein, though its molecular mechanism of action remains unclear (Marcais et al. 2005; Merkel and Heeren 2005). CRs can then be taken up by liver parenchymal cells in two ways; 1) directly by the LDL receptor or 2) apoE/HSPG-directed uptake by LDL receptor-related proteins.", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P06858-1" ], "evidence": [ { "id": "R-HSA-174757", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174757" } ] }, { "id": "R-HSA-2395768", "name": "LPL hydrolyses TGs from mature CMs", "equation": "", "summary": "Lipoprotein lipase dimers (LPL:LPL) are tethered to heparan sulfate proteoglycans (HSPG) at endothelial cell surfaces (Fernandez-Borja et al. 1996; Peterson et al. 1992). Both syndecan 1 (Rosenberg et al. 1997) and perlecan (Goldberg 1996) HSPG molecules are capable of tethering LPL. The LPL enzyme catalyzes the hydrolysis and release of triacylglycerols (TG) associated with circulating chylomicrons to leave a CM remnant (CR). This reaction is annotated here as causing the hydrolysis and release of 50 molecules of TG. In vivo, the number is much larger, and TG depletion probably occurs in the course of multiple encounters between a chylomicron and endothelial LPL. This reaction is strongly activated by chylomicron-associated apo C-II protein both in vivo and in vitro (Jackson et al. 1986). Chylomicron-associated apoC-II protein inhibits LPL activity in vitro (Brown and Baginsky 1972), and recent studies have indicated a positive regulatory role for apoA-5 protein, though its molecular mechanism of action remains unclear (Marcais et al. 2005; Merkel and Heeren 2005). CRs can then be taken up by liver parenchymal cells in two ways; 1) directly by the LDL receptor or 2) apoE/HSPG-directed uptake by LDL receptor-related proteins.", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P06858-1" ], "evidence": [ { "id": "R-HSA-2395768", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2395768" } ] }, { "id": "R-HSA-560498", "name": "Expression of Lipoprotein lipase (LPL)", "equation": "", "summary": "The LPL gene is transcribed to yield mRNA and the mRNA is translated to yield protein.", "cellular_location": "extracellular region, nucleoplasm", "input_participant_list": [ "R-HSA-5640177" ], "output_participant_list": [ "R-HSA-174605" ], "enzyme_list": [ "Q15788-1", "Q09472-1", "Q92793-1", "Q9Y6Q9-1", "P49336-1", "Q9BWU1-1", "Q9BYK8-1", "P06858-1" ], "evidence": [ { "id": "R-HSA-560498", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-560498" } ] }, { "id": "R-HSA-6784628", "name": "PCSK6,FURIN mediate dissociation of 2 x LPL from GPIHBP1:HSPG:LPL dimer", "equation": "", "summary": "LPL enzyme is catalytically active as a dimer composed of two glycosylated subunits of LPL connected in a head-to-tail arrangement by non-covalent interactions. Dimeric LPL is cleaved by several proprotein convertases. FURIN and proprotein convertase subtilisin/kexin type 6 (PCSK6 aka PACE4) can cleave LPL dimer, inactivating it, resulting in subsequent increase in plasma TG concentrations (Siezen et al. 1994, Bassi et al. 2000, Jin et al. 2005). Endogenous modulators of LPL are the angiopoietin-like proteins ANGPTL3 and ANGPTL4, which can bind transiently to LPL dimer, resulting in conversion of the enzyme from a catalytically active dimer to inactive, but still folded, monomers (Liu et al. 2010, Sukonina et al. 2006). ANGPTL4 regulates plasma triglyceride concentration via the inhibition of LPL (Dijk & Kersten 2014). GWAS studies (Dewey et al. 2016, MIG and CARDIoGRAM Consortium 2016) show a strong correlation between inactivating ANGPTL4 mutants and lower levels of triglycerides and lower risk of coronary artery disease than non-carriers. Therapeutic modulation of ANGPTL4 could be a new strategy against dyslipidemia (Kersten 2016).", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P29122-1", "P09958-1", "P06858-1" ], "evidence": [ { "id": "R-HSA-6784628", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784628" } ] }, { "id": "R-HSA-6784676", "name": "PCSK5 mediates dissociation of 2 x LPL from GPIHBP1:HSPG:LPL dimer", "equation": "", "summary": "LPL enzyme is catalytically active as a dimer composed of two glycosylated subunits of LPL connected in a head-to-tail arrangement by non-covalent interactions. Dimeric LPL is cleaved by several proprotein convertases. Proprotein convertase subtilisin/kexin type 5 (PCSK5) can cleave LPL dimer, inactivating it, resulting in subsequent increase in plasma TG concentrations (Paule et al. 2012). ANGPTL4 binds transiently to LPL dimer, the interaction resulting in conversion of the enzyme from a catalytically active dimer to inactive, but still folded, monomers (Sukonina et al. 2006).", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q92824-1", "P06858-1" ], "evidence": [ { "id": "R-HSA-6784676", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784676" } ] }, { "id": "R-HSA-6784861", "name": "HSPG binds LPL dimer", "equation": "", "summary": "LPL enzyme is catalytically active as a dimer composed of two glycosylated subunits of LPL connected in a head-to-tail arrangement by non-covalent interactions. It is synthesised in adipocytes and exported to the luminal side of the capillary endothelium where it binds heparan sulfate proteoglycan (HSPG), serving as an membrane anchor for the LPL dimer (Lookene et al. 1997, Berryman & Bensadoun 1995).", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P06858-1" ], "evidence": [ { "id": "R-HSA-6784861", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784861" } ] }, { "id": "R-HSA-8857928", "name": "GPIHBP1 binds HSPG:LPL dimer", "equation": "", "summary": "Lipoprotein lipase (LPL) is mainly produced by adipocytes and myocytes but is also involved in hydrolysing triglyceride-rich lipoproteins in the lumen of capillaries of heart, adipose tissue, and skeletal muscle. Heparan sulfate proteoglycan (HSPG) serves as an membrane anchor for LPL dimer but for LPL to reach its site of action in capillaries, it binds to glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1), an endothelial cell membrane-bound protein. Once bound, GPIHBP1 transports LPL from within interstitial spaces, across endothelial cells to the capillary lumen (Gin et al. 2007, Young et al. 2011, Adeyo et al. 2012). Defects in GPIHBP1 can cause mislocalisation of LPL leading to severe hypertriglyceridaemia and hyperlipoproteinemia type ID (MIM:615947) (Adeyo et al. 2012, Wang & Hegele 2007, Beigneux et al. 2009, Beigneux et al. 2015).", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P06858-1" ], "evidence": [ { "id": "R-HSA-8857928", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8857928" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-174605", "participant_name": "LPL [extracellular region]", "crossref": [ { "id": "ENSP00000497642", "database": "Ensembl", "url": "" }, { "id": "HMDBP00310", "database": "HMDB Protein", "url": "" }, { "id": "6OB0", "database": "PDB", "url": "" }, { "id": "ENSG00000175445", "database": "OpenTargets", "url": "" }, { "id": "P06858", "database": "UniProt", "url": "" }, { "id": "6OAU", "database": "PDB", "url": "" }, { "id": "NP_000228.1", "database": "RefSeq", "url": "" }, { "id": "6OAZ", "database": "PDB", "url": "" }, { "id": "ENSG00000175445", "database": "Ensembl", "url": "" }, { "id": "P06858", "database": "GeneCards", "url": "" }, { "id": "P06858", "database": "PRO", "url": "" }, { "id": "LIPL_HUMAN", "database": "ZINC - Substances", "url": "" }, { "id": "P06858", "database": "Pharos - Targets", "url": "" }, { "id": "6WN4", "database": "PDB", "url": "" }, { "id": "P06858", "database": "ZINC target", "url": "" }, { "id": "LIPL_HUMAN", "database": "ZINC - Predictions - Purchasable", "url": "" }, { "id": "ENST00000650287", "database": "Ensembl", "url": "" }, { "id": "ENSG00000175445-LPL", "database": "HPA", "url": "" }, { "id": "3.1.1.32", "database": "IntEnz", "url": "" }, { "id": "16371", "database": "Orphanet", "url": "" }, { "id": "6E7K", "database": "PDB", "url": "" } ] }, { "participant_id": "R-HSA-5640177", "participant_name": "LPL gene [nucleoplasm]", "crossref": [ { "id": "ENSG00000175445", "database": "ENSEMBL", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "D2KX21", "gene_name": "Plaat1", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "D2KX21", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D2KX21" } ] }, { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "D2KX21", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D2KX21" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "D2KX21", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D2KX21" } ] }, { "ec_number": "3.1.1.4", "activity": "", "evidence": [ { "id": "D2KX21", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D2KX21" } ] }, { "ec_number": "3.1.1.32", "activity": "", "evidence": [ { "id": "D2KX21", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D2KX21" } ] } ] }, { "uniprot_ac": "D3ZRC4", "gene_name": "Pnpla8", "activity": [ { "ec_number": "3.1.1.-", "activity": "", "evidence": [ { "id": "D3ZRC4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZRC4" } ] }, { "ec_number": "3.1.1.5", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + H2O = a fatty acid + H(+) + sn-glycerol 3-phosphocholine.", "evidence": [ { "id": "D3ZRC4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZRC4" } ] }, { "ec_number": "3.1.1.5", "activity": "", "evidence": [ { "id": "D3ZRC4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZRC4" } ] } ] }, { "uniprot_ac": "O54728", "gene_name": "Plb1", "activity": [ { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "O54728", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54728" } ] }, { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "O54728", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54728" } ] }, { "ec_number": "3.1.1.5", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + H2O = a fatty acid + H(+) + sn-glycerol 3-phosphocholine.", "evidence": [ { "id": "O54728", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54728" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "O54728", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54728" } ] }, { "ec_number": "3.1.1.5", "activity": "", "evidence": [ { "id": "O54728", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54728" } ] }, { "ec_number": "3.1.1.4", "activity": "", "evidence": [ { "id": "O54728", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54728" } ] } ] }, { "uniprot_ac": "P04634", "gene_name": "Lipf", "activity": [ { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P04634", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04634" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "P04634", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04634" } ] } ] }, { "uniprot_ac": "P06858", "gene_name": "LPL", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "P06858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06858" } ] }, { "ec_number": "3.1.1.34", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P06858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06858" } ] }, { "ec_number": "3.1.1.34", "activity": "", "evidence": [ { "id": "P06858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06858" } ] } ] }, { "uniprot_ac": "P07098", "gene_name": "LIPF", "activity": [ { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P07098", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07098" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "P07098", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07098" } ] } ] }, { "uniprot_ac": "P07867", "gene_name": "Lipc", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "P07867", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07867" } ] }, { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P07867", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07867" } ] }, { "ec_number": "3.1.1.5", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + H2O = a fatty acid + H(+) + sn-glycerol 3-phosphocholine.", "evidence": [ { "id": "P07867", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07867" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "P07867", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07867" } ] }, { "ec_number": "3.1.1.5", "activity": "", "evidence": [ { "id": "P07867", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07867" } ] }, { "ec_number": "3.1.1.32", "activity": "", "evidence": [ { "id": "P07867", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07867" } ] } ] }, { "uniprot_ac": "P07882", "gene_name": "Cel", "activity": [ { "ec_number": "3.1.1.-", "activity": "", "evidence": [ { "id": "P07882", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07882" } ] }, { "ec_number": "3.1.1.13", "activity": "a cholesterol ester + H2O = a fatty acid + cholesterol + H(+).", "evidence": [ { "id": "P07882", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07882" } ] }, { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P07882", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07882" } ] }, { "ec_number": "3.1.1.6", "activity": "an acetyl ester + H2O = acetate + an aliphatic alcohol + H(+).", "evidence": [ { "id": "P07882", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07882" } ] }, { "ec_number": "3.1.1.13", "activity": "", "evidence": [ { "id": "P07882", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07882" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "P07882", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07882" } ] }, { "ec_number": "3.1.1.6", "activity": "", "evidence": [ { "id": "P07882", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07882" } ] } ] }, { "uniprot_ac": "P08910", "gene_name": "ABHD2", "activity": [ { "ec_number": "3.1.1.23", "activity": "Hydrolyzes glycerol monoesters of long-chain fatty acids.", "evidence": [ { "id": "P08910", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08910" } ] }, { "ec_number": "3.1.1.79", "activity": "a monoacylglycerol + H2O = a fatty acid + glycerol + H(+).", "evidence": [ { "id": "P08910", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08910" } ] }, { "ec_number": "3.1.1.6", "activity": "an acetyl ester + H2O = acetate + an aliphatic alcohol + H(+).", "evidence": [ { "id": "P08910", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08910" } ] }, { "ec_number": "3.1.1.23", "activity": "", "evidence": [ { "id": "P08910", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08910" } ] } ] }, { "uniprot_ac": "P09958", "gene_name": "FURIN", "activity": [ { "ec_number": "3.4.21.75", "activity": "Release of mature proteins from their proproteins by cleavage of -Arg-Xaa-Yaa-Arg-|-Zaa- bonds, where Xaa can be any amino acid and Yaa is Arg or Lys. Releases albumin, complement component C3 and von Willebrand factor from their respective precursors.", "evidence": [ { "id": "P09958", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09958" } ] }, { "ec_number": "3.4.21.75", "activity": "", "evidence": [ { "id": "P09958", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09958" } ] } ] }, { "uniprot_ac": "P0C1S9", "gene_name": "Daglb", "activity": [ { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P0C1S9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0C1S9" } ] }, { "ec_number": "3.1.1.116", "activity": "a 1,2-diacyl-sn-glycerol + H2O = a 2-acylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P0C1S9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0C1S9" } ] }, { "ec_number": "3.1.1.116", "activity": "", "evidence": [ { "id": "P0C1S9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0C1S9" } ] } ] }, { "uniprot_ac": "P0C548", "gene_name": "Pnpla2", "activity": [ { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "P0C548", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0C548" } ] }, { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P0C548", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0C548" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "P0C548", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0C548" } ] } ] }, { "uniprot_ac": "P11150", "gene_name": "LIPC", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "P11150", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11150" } ] }, { "ec_number": "3.1.1.5", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + H2O = a fatty acid + H(+) + sn-glycerol 3-phosphocholine.", "evidence": [ { "id": "P11150", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11150" } ] }, { "ec_number": "3.1.1.5", "activity": "", "evidence": [ { "id": "P11150", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11150" } ] }, { "ec_number": "3.1.1.32", "activity": "", "evidence": [ { "id": "P11150", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11150" } ] }, { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P11150", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11150" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "P11150", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11150" } ] } ] }, { "uniprot_ac": "P11152", "gene_name": "Lpl", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "P11152", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11152" } ] }, { "ec_number": "3.1.1.34", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P11152", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11152" } ] }, { "ec_number": "3.1.1.34", "activity": "", "evidence": [ { "id": "P11152", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11152" } ] } ] }, { "uniprot_ac": "P15304", "gene_name": "Lipe", "activity": [ { "ec_number": "3.1.1.23", "activity": "Hydrolyzes glycerol monoesters of long-chain fatty acids.", "evidence": [ { "id": "P15304", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15304" } ] }, { "ec_number": "3.1.1.79", "activity": "a monoacylglycerol + H2O = a fatty acid + glycerol + H(+).", "evidence": [ { "id": "P15304", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15304" } ] }, { "ec_number": "3.1.1.23", "activity": "", "evidence": [ { "id": "P15304", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15304" } ] }, { "ec_number": "3.1.1.79", "activity": "", "evidence": [ { "id": "P15304", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15304" } ] } ] }, { "uniprot_ac": "P16233", "gene_name": "PNLIP", "activity": [ { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P16233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16233" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "P16233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16233" } ] } ] }, { "uniprot_ac": "P17892", "gene_name": "Pnliprp2", "activity": [ { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P17892", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17892" } ] }, { "ec_number": "3.1.1.26", "activity": "a 1,2-diacyl-3-O-(beta-D-galactosyl)-sn-glycerol + 2 H2O = 3-beta-D-galactosyl-sn-glycerol + 2 a fatty acid + 2 H(+).", "evidence": [ { "id": "P17892", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17892" } ] } ] }, { "uniprot_ac": "P19835", "gene_name": "CEL", "activity": [ { "ec_number": "3.1.1.13", "activity": "a cholesterol ester + H2O = a fatty acid + cholesterol + H(+).", "evidence": [ { "id": "P19835", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19835" } ] }, { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P19835", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19835" } ] }, { "ec_number": "3.1.1.6", "activity": "an acetyl ester + H2O = acetate + an aliphatic alcohol + H(+).", "evidence": [ { "id": "P19835", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19835" } ] }, { "ec_number": "3.1.1.13", "activity": "", "evidence": [ { "id": "P19835", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19835" } ] }, { "ec_number": "3.1.1.6", "activity": "", "evidence": [ { "id": "P19835", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19835" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "P19835", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19835" } ] } ] }, { "uniprot_ac": "P22760", "gene_name": "AADAC", "activity": [ { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P22760", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22760" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "P22760", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22760" } ] } ] }, { "uniprot_ac": "P25641", "gene_name": "ATG15", "activity": [ { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P25641", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25641" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "P25641", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25641" } ] } ] }, { "uniprot_ac": "P27656", "gene_name": "Lipc", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "P27656", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27656" } ] }, { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P27656", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27656" } ] }, { "ec_number": "3.1.1.5", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + H2O = a fatty acid + H(+) + sn-glycerol 3-phosphocholine.", "evidence": [ { "id": "P27656", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27656" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "P27656", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27656" } ] }, { "ec_number": "3.1.1.5", "activity": "", "evidence": [ { "id": "P27656", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27656" } ] }, { "ec_number": "3.1.1.32", "activity": "", "evidence": [ { "id": "P27656", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27656" } ] } ] }, { "uniprot_ac": "P27657", "gene_name": "Pnlip", "activity": [ { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P27657", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27657" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "P27657", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27657" } ] } ] }, { "uniprot_ac": "P29122", "gene_name": "PCSK6", "activity": [ { "ec_number": "3.4.21.-", "activity": "", "evidence": [ { "id": "P29122", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29122" } ] } ] }, { "uniprot_ac": "P36165", "gene_name": "TGL4", "activity": [ { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P36165", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36165" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "P36165", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36165" } ] } ] }, { "uniprot_ac": "P38139", "gene_name": "LDH1", "activity": [ { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P38139", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38139" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "P38139", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38139" } ] } ] }, { "uniprot_ac": "P40308", "gene_name": "TGL3", "activity": [ { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P40308", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40308" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "P40308", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40308" } ] } ] }, { "uniprot_ac": "P40471", "gene_name": "AYR1", "activity": [ { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P40471", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40471" } ] }, { "ec_number": "1.1.1.101", "activity": "1-O-alkylglycerone 3-phosphate + H(+) + NADPH = 1-O-alkyl-sn-glycero-3-phosphate + NADP(+).", "evidence": [ { "id": "P40471", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40471" } ] }, { "ec_number": "1.1.1.101", "activity": "", "evidence": [ { "id": "P40471", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40471" } ] } ] }, { "uniprot_ac": "P41247", "gene_name": "PNPLA4", "activity": [ { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "P41247", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P41247" } ] }, { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P41247", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P41247" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "P41247", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P41247" } ] } ] }, { "uniprot_ac": "P47145", "gene_name": "LIH1", "activity": [ { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P47145", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P47145" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "P47145", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P47145" } ] } ] }, { "uniprot_ac": "P49336", "gene_name": "CDK8", "activity": [ { "ec_number": "2.7.11.22", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P49336", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49336" } ] }, { "ec_number": "2.7.11.23", "activity": "[DNA-directed RNA polymerase] + ATP = ADP + H(+) + phospho-[DNA-directed RNA polymerase].", "evidence": [ { "id": "P49336", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49336" } ] }, { "ec_number": "2.7.11.22", "activity": "", "evidence": [ { "id": "P49336", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49336" } ] }, { "ec_number": "2.7.11.23", "activity": "", "evidence": [ { "id": "P49336", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49336" } ] } ] }, { "uniprot_ac": "P53816", "gene_name": "PLAAT3", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "P53816", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53816" } ] }, { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "P53816", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53816" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "P53816", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53816" } ] }, { "ec_number": "3.1.1.4", "activity": "", "evidence": [ { "id": "P53816", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53816" } ] }, { "ec_number": "3.1.1.32", "activity": "", "evidence": [ { "id": "P53816", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53816" } ] } ] }, { "uniprot_ac": "P53817", "gene_name": "Plaat3", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "P53817", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53817" } ] }, { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "P53817", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53817" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "P53817", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53817" } ] }, { "ec_number": "3.1.1.32", "activity": "", "evidence": [ { "id": "P53817", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53817" } ] }, { "ec_number": "3.1.1.4", "activity": "", "evidence": [ { "id": "P53817", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53817" } ] } ] }, { "uniprot_ac": "P54310", "gene_name": "Lipe", "activity": [ { "ec_number": "3.1.1.23", "activity": "Hydrolyzes glycerol monoesters of long-chain fatty acids.", "evidence": [ { "id": "P54310", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54310" } ] }, { "ec_number": "3.1.1.79", "activity": "a monoacylglycerol + H2O = a fatty acid + glycerol + H(+).", "evidence": [ { "id": "P54310", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54310" } ] }, { "ec_number": "3.1.1.23", "activity": "", "evidence": [ { "id": "P54310", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54310" } ] }, { "ec_number": "3.1.1.79", "activity": "", "evidence": [ { "id": "P54310", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54310" } ] } ] }, { "uniprot_ac": "P54315", "gene_name": "PNLIPRP1", "activity": [ { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P54315", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54315" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "P54315", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54315" } ] } ] }, { "uniprot_ac": "P54316", "gene_name": "Pnliprp1", "activity": [ { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P54316", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54316" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "P54316", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54316" } ] } ] }, { "uniprot_ac": "P54317", "gene_name": "PNLIPRP2", "activity": [ { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P54317", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54317" } ] }, { "ec_number": "3.1.1.26", "activity": "a 1,2-diacyl-3-O-(beta-D-galactosyl)-sn-glycerol + 2 H2O = 3-beta-D-galactosyl-sn-glycerol + 2 a fatty acid + 2 H(+).", "evidence": [ { "id": "P54317", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54317" } ] } ] }, { "uniprot_ac": "P54318", "gene_name": "Pnliprp2", "activity": [ { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P54318", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54318" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "P54318", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54318" } ] }, { "ec_number": "3.1.1.26", "activity": "a 1,2-diacyl-3-O-(beta-D-galactosyl)-sn-glycerol + 2 H2O = 3-beta-D-galactosyl-sn-glycerol + 2 a fatty acid + 2 H(+).", "evidence": [ { "id": "P54318", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54318" } ] } ] }, { "uniprot_ac": "P54857", "gene_name": "TGL2", "activity": [ { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P54857", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54857" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "P54857", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54857" } ] } ] }, { "uniprot_ac": "Q05469", "gene_name": "LIPE", "activity": [ { "ec_number": "3.1.1.23", "activity": "Hydrolyzes glycerol monoesters of long-chain fatty acids.", "evidence": [ { "id": "Q05469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05469" } ] }, { "ec_number": "3.1.1.79", "activity": "a monoacylglycerol + H2O = a fatty acid + glycerol + H(+).", "evidence": [ { "id": "Q05469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05469" } ] }, { "ec_number": "3.1.1.79", "activity": "", "evidence": [ { "id": "Q05469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05469" } ] } ] }, { "uniprot_ac": "Q06000", "gene_name": "Lpl", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q06000", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q06000" } ] }, { "ec_number": "3.1.1.34", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "Q06000", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q06000" } ] }, { "ec_number": "3.1.1.34", "activity": "", "evidence": [ { "id": "Q06000", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q06000" } ] } ] }, { "uniprot_ac": "Q06522", "gene_name": "", "activity": [ { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "Q06522", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q06522" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "Q06522", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q06522" } ] } ] }, { "uniprot_ac": "Q09472", "gene_name": "EP300", "activity": [ { "ec_number": "2.3.1.48", "activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].", "evidence": [ { "id": "Q09472", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q09472" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q09472", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q09472" } ] }, { "ec_number": "2.3.1.48", "activity": "", "evidence": [ { "id": "Q09472", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q09472" } ] } ] }, { "uniprot_ac": "Q12043", "gene_name": "TGL5", "activity": [ { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "Q12043", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q12043" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "Q12043", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q12043" } ] } ] }, { "uniprot_ac": "Q15788", "gene_name": "NCOA1", "activity": [ { "ec_number": "2.3.1.48", "activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].", "evidence": [ { "id": "Q15788", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15788" } ] }, { "ec_number": "2.3.1.48", "activity": "", "evidence": [ { "id": "Q15788", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15788" } ] } ] }, { "uniprot_ac": "Q17RR3", "gene_name": "PNLIPRP3", "activity": [ { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "Q17RR3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q17RR3" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "Q17RR3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q17RR3" } ] } ] }, { "uniprot_ac": "Q32LZ8", "gene_name": "Pnpla5", "activity": [ { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "Q32LZ8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q32LZ8" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "Q32LZ8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q32LZ8" } ] } ] }, { "uniprot_ac": "Q3TTY0", "gene_name": "Plb1", "activity": [ { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q3TTY0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3TTY0" } ] }, { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "Q3TTY0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3TTY0" } ] }, { "ec_number": "3.1.1.5", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + H2O = a fatty acid + H(+) + sn-glycerol 3-phosphocholine.", "evidence": [ { "id": "Q3TTY0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3TTY0" } ] } ] }, { "uniprot_ac": "Q4KLN5", "gene_name": "Plaat5", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q4KLN5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4KLN5" } ] }, { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q4KLN5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4KLN5" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q4KLN5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4KLN5" } ] } ] }, { "uniprot_ac": "Q64285", "gene_name": "Cel", "activity": [ { "ec_number": "3.1.1.13", "activity": "a cholesterol ester + H2O = a fatty acid + cholesterol + H(+).", "evidence": [ { "id": "Q64285", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q64285" } ] }, { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "Q64285", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q64285" } ] }, { "ec_number": "3.1.1.6", "activity": "an acetyl ester + H2O = acetate + an aliphatic alcohol + H(+).", "evidence": [ { "id": "Q64285", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q64285" } ] }, { "ec_number": "3.1.1.13", "activity": "", "evidence": [ { "id": "Q64285", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q64285" } ] }, { "ec_number": "3.1.1.6", "activity": "", "evidence": [ { "id": "Q64285", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q64285" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "Q64285", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q64285" } ] } ] }, { "uniprot_ac": "Q675A5", "gene_name": "Pla2g15", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q675A5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q675A5" } ] }, { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q675A5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q675A5" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q675A5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q675A5" } ] }, { "ec_number": "3.1.1.5", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + H2O = a fatty acid + H(+) + sn-glycerol 3-phosphocholine.", "evidence": [ { "id": "Q675A5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q675A5" } ] } ] }, { "uniprot_ac": "Q6P1J6", "gene_name": "PLB1", "activity": [ { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q6P1J6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6P1J6" } ] }, { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "Q6P1J6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6P1J6" } ] }, { "ec_number": "3.1.1.5", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + H2O = a fatty acid + H(+) + sn-glycerol 3-phosphocholine.", "evidence": [ { "id": "Q6P1J6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6P1J6" } ] }, { "ec_number": "3.1.1.5", "activity": "", "evidence": [ { "id": "Q6P1J6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6P1J6" } ] }, { "ec_number": "3.1.1.4", "activity": "", "evidence": [ { "id": "Q6P1J6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6P1J6" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "Q6P1J6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6P1J6" } ] } ] }, { "uniprot_ac": "Q6P8U6", "gene_name": "Pnlip", "activity": [ { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "Q6P8U6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6P8U6" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "Q6P8U6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6P8U6" } ] } ] }, { "uniprot_ac": "Q7Z6Z6", "gene_name": "PNPLA5", "activity": [ { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "Q7Z6Z6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7Z6Z6" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "Q7Z6Z6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7Z6Z6" } ] } ] }, { "uniprot_ac": "Q80YA3", "gene_name": "Ddhd1", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q80YA3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q80YA3" } ] }, { "ec_number": "3.1.1.111", "activity": "a 1,2-diacyl-sn-glycero-3-phospho-L-serine + H2O = a 2-acyl-sn-glycero-3-phospho-L-serine + a fatty acid + H(+).", "evidence": [ { "id": "Q80YA3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q80YA3" } ] }, { "ec_number": "3.1.1.118", "activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + H2O = a 2-acyl-sn-glycero-3-phospho-D-myo-inositol + a fatty acid + H(+).", "evidence": [ { "id": "Q80YA3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q80YA3" } ] }, { "ec_number": "3.1.1.111", "activity": "", "evidence": [ { "id": "Q80YA3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q80YA3" } ] }, { "ec_number": "3.1.1.32", "activity": "", "evidence": [ { "id": "Q80YA3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q80YA3" } ] } ] }, { "uniprot_ac": "Q8BJ56", "gene_name": "Pnpla2", "activity": [ { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q8BJ56", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BJ56" } ] }, { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "Q8BJ56", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BJ56" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "Q8BJ56", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BJ56" } ] } ] }, { "uniprot_ac": "Q8K1N1", "gene_name": "Pnpla8", "activity": [ { "ec_number": "3.1.1.-", "activity": "", "evidence": [ { "id": "Q8K1N1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8K1N1" } ] }, { "ec_number": "3.1.1.5", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + H2O = a fatty acid + H(+) + sn-glycerol 3-phosphocholine.", "evidence": [ { "id": "Q8K1N1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8K1N1" } ] }, { "ec_number": "3.1.1.5", "activity": "", "evidence": [ { "id": "Q8K1N1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8K1N1" } ] } ] }, { "uniprot_ac": "Q8NCC3", "gene_name": "PLA2G15", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q8NCC3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NCC3" } ] }, { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q8NCC3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NCC3" } ] }, { "ec_number": "3.1.1.5", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + H2O = a fatty acid + H(+) + sn-glycerol 3-phosphocholine.", "evidence": [ { "id": "Q8NCC3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NCC3" } ] }, { "ec_number": "3.1.1.4", "activity": "", "evidence": [ { "id": "Q8NCC3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NCC3" } ] }, { "ec_number": "3.1.1.5", "activity": "", "evidence": [ { "id": "Q8NCC3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NCC3" } ] }, { "ec_number": "3.1.1.32", "activity": "", "evidence": [ { "id": "Q8NCC3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NCC3" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q8NCC3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NCC3" } ] } ] }, { "uniprot_ac": "Q8NCG7", "gene_name": "DAGLB", "activity": [ { "ec_number": "3.1.1.116", "activity": "a 1,2-diacyl-sn-glycerol + H2O = a 2-acylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "Q8NCG7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NCG7" } ] }, { "ec_number": "3.1.1.116", "activity": "", "evidence": [ { "id": "Q8NCG7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NCG7" } ] }, { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "Q8NCG7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NCG7" } ] } ] }, { "uniprot_ac": "Q8NEL9", "gene_name": "DDHD1", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q8NEL9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NEL9" } ] }, { "ec_number": "3.1.1.111", "activity": "a 1,2-diacyl-sn-glycero-3-phospho-L-serine + H2O = a 2-acyl-sn-glycero-3-phospho-L-serine + a fatty acid + H(+).", "evidence": [ { "id": "Q8NEL9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NEL9" } ] }, { "ec_number": "3.1.1.118", "activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + H2O = a 2-acyl-sn-glycero-3-phospho-D-myo-inositol + a fatty acid + H(+).", "evidence": [ { "id": "Q8NEL9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NEL9" } ] }, { "ec_number": "3.1.1.111", "activity": "", "evidence": [ { "id": "Q8NEL9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NEL9" } ] }, { "ec_number": "3.1.1.32", "activity": "", "evidence": [ { "id": "Q8NEL9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NEL9" } ] } ] }, { "uniprot_ac": "Q8R3U1", "gene_name": "Plaat3", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q8R3U1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R3U1" } ] }, { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q8R3U1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R3U1" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q8R3U1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R3U1" } ] }, { "ec_number": "3.1.1.32", "activity": "", "evidence": [ { "id": "Q8R3U1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R3U1" } ] }, { "ec_number": "3.1.1.4", "activity": "", "evidence": [ { "id": "Q8R3U1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R3U1" } ] } ] }, { "uniprot_ac": "Q8VBX1", "gene_name": "Lipg", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q8VBX1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VBX1" } ] }, { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "Q8VBX1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VBX1" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "Q8VBX1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VBX1" } ] } ] }, { "uniprot_ac": "Q8VEB4", "gene_name": "Pla2g15", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q8VEB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VEB4" } ] }, { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q8VEB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VEB4" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q8VEB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VEB4" } ] }, { "ec_number": "3.1.1.5", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + H2O = a fatty acid + H(+) + sn-glycerol 3-phosphocholine.", "evidence": [ { "id": "Q8VEB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VEB4" } ] }, { "ec_number": "3.1.1.4", "activity": "", "evidence": [ { "id": "Q8VEB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VEB4" } ] }, { "ec_number": "3.1.1.5", "activity": "", "evidence": [ { "id": "Q8VEB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VEB4" } ] }, { "ec_number": "3.1.1.32", "activity": "", "evidence": [ { "id": "Q8VEB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VEB4" } ] } ] }, { "uniprot_ac": "Q8WU67", "gene_name": "ABHD3", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q8WU67", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WU67" } ] }, { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q8WU67", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WU67" } ] }, { "ec_number": "3.1.1.4", "activity": "", "evidence": [ { "id": "Q8WU67", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WU67" } ] }, { "ec_number": "3.1.1.32", "activity": "", "evidence": [ { "id": "Q8WU67", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WU67" } ] } ] }, { "uniprot_ac": "Q91WC9", "gene_name": "Daglb", "activity": [ { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "Q91WC9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91WC9" } ] }, { "ec_number": "3.1.1.116", "activity": "a 1,2-diacyl-sn-glycerol + H2O = a 2-acylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "Q91WC9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91WC9" } ] }, { "ec_number": "3.1.1.116", "activity": "", "evidence": [ { "id": "Q91WC9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91WC9" } ] } ] }, { "uniprot_ac": "Q91WW7", "gene_name": "Pnpla3", "activity": [ { "ec_number": "2.3.1.51", "activity": "a 1-acyl-sn-glycero-3-phosphate + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphate + CoA.", "evidence": [ { "id": "Q91WW7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91WW7" } ] }, { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q91WW7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91WW7" } ] }, { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "Q91WW7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91WW7" } ] }, { "ec_number": "2.3.1.51", "activity": "", "evidence": [ { "id": "Q91WW7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91WW7" } ] } ] }, { "uniprot_ac": "Q91ZH7", "gene_name": "Abhd3", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q91ZH7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91ZH7" } ] }, { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q91ZH7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91ZH7" } ] }, { "ec_number": "3.1.1.4", "activity": "", "evidence": [ { "id": "Q91ZH7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91ZH7" } ] }, { "ec_number": "3.1.1.32", "activity": "", "evidence": [ { "id": "Q91ZH7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91ZH7" } ] } ] }, { "uniprot_ac": "Q92793", "gene_name": "CREBBP", "activity": [ { "ec_number": "2.3.1.48", "activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].", "evidence": [ { "id": "Q92793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92793" } ] }, { "ec_number": "2.3.1.48", "activity": "", "evidence": [ { "id": "Q92793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92793" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q92793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92793" } ] } ] }, { "uniprot_ac": "Q92824", "gene_name": "PCSK5", "activity": [ { "ec_number": "3.4.21.-", "activity": "", "evidence": [ { "id": "Q92824", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92824" } ] } ] }, { "uniprot_ac": "Q96AD5", "gene_name": "PNPLA2", "activity": [ { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q96AD5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96AD5" } ] }, { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "Q96AD5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96AD5" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "Q96AD5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96AD5" } ] } ] }, { "uniprot_ac": "Q96KN8", "gene_name": "PLAAT5", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q96KN8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96KN8" } ] }, { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q96KN8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96KN8" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q96KN8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96KN8" } ] } ] }, { "uniprot_ac": "Q99PG0", "gene_name": "Aadac", "activity": [ { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "Q99PG0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99PG0" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "Q99PG0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99PG0" } ] } ] }, { "uniprot_ac": "Q9BWU1", "gene_name": "CDK19", "activity": [ { "ec_number": "2.7.11.22", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q9BWU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BWU1" } ] }, { "ec_number": "2.7.11.22", "activity": "", "evidence": [ { "id": "Q9BWU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BWU1" } ] } ] }, { "uniprot_ac": "Q9BYK8", "gene_name": "HELZ2", "activity": [ { "ec_number": "3.1.13.1", "activity": "Exonucleolytic cleavage in the 3'- to 5'-direction to yield nucleoside 5'-phosphates.", "evidence": [ { "id": "Q9BYK8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BYK8" } ] }, { "ec_number": "3.6.4.13", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "Q9BYK8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BYK8" } ] }, { "ec_number": "3.1.13.1", "activity": "", "evidence": [ { "id": "Q9BYK8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BYK8" } ] } ] }, { "uniprot_ac": "Q9CPP7", "gene_name": "Lipf", "activity": [ { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "Q9CPP7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9CPP7" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "Q9CPP7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9CPP7" } ] } ] }, { "uniprot_ac": "Q9CPX5", "gene_name": "Plaat5", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q9CPX5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9CPX5" } ] }, { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q9CPX5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9CPX5" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q9CPX5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9CPX5" } ] } ] }, { "uniprot_ac": "Q9HDD0", "gene_name": "PLAAT1", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q9HDD0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9HDD0" } ] }, { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q9HDD0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9HDD0" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q9HDD0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9HDD0" } ] }, { "ec_number": "3.1.1.4", "activity": "", "evidence": [ { "id": "Q9HDD0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9HDD0" } ] }, { "ec_number": "3.1.1.32", "activity": "", "evidence": [ { "id": "Q9HDD0", "database": "UniProtKB", "url": 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"activity": [ { "ec_number": "2.3.1.48", "activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].", "evidence": [ { "id": "Q9Y6Q9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y6Q9" } ] }, { "ec_number": "2.3.1.48", "activity": "", "evidence": [ { "id": "Q9Y6Q9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y6Q9" } ] } ] } ], "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": [ 70, 386 ], "o_linked_sites": [], "snv_sites": [ 17, 72, 170, 265, 314, 361, 386, 387, 388, 473 ], "glycation_sites": [], "phosphorylation_sites": [ 196 ], "sequon_annotation_sites": [ { "start_pos": 386, "end_pos": 388 }, { "start_pos": 70, "end_pos": 72 } ] }, "section_stats": [ { "table_id": "glycosylation", 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