Metabolic pathway of LDL, HDL and TG, including diseases (Homo sapiens)
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Description
This pathway shows genetic disorders related to lipoprotein metabolism. Two plasmalipoproteins, LDL and HDL, and one plasma lipid, triglyceride (TG), play an important role in this pathway. Hydrophobic lipids and fat-soluble vitamins are normally transported to the site of their uptake by transporters called lipoproteins, and any deregulation of the plasma concentrations of these proteins can cause dyslipidemias. Disorders resulting from an enzyme deficiency are highlighted in pink. More details on the composition of the various lipoproteins in this pathway are visualised in [1].
This pathway was inspired by Chapter 43 of the book of Blau (ISBN 3642403360 (978-3642403361)).
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Ontology Terms
Bibliography
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History
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External references
DataNodes
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Name | Type | Database reference | Comment |
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ABCA1 | GeneProduct | ENSG00000165029 (Ensembl) | |
ANXA2 | Protein | P07355 (Uniprot-TrEMBL) | Annexin A2 |
APOA1 | Protein | P02647 (Uniprot-TrEMBL) | A-I; AKA Apo A-I; activator of lecithin-cholesterol acyl transferase (LCAT). |
APOA2 | Protein | P02652 (Uniprot-TrEMBL) | A-II; AKA Apolipoprotein A-II |
APOC2 | Protein | P02655 (Uniprot-TrEMBL) | C-II; AKA Apolipoprotein C2; cofactor for lipoprotein lipase (LPL) enzyme. |
APOE | Protein | P02649 (Uniprot-TrEMBL) | E; AKA APo E, a ligand for receptor mediated endocytosis. |
Alternative steroidogenesis (including diseases) | Pathway | WP4524 (WikiPathways) | |
B100 | Protein | P04114 (Uniprot-TrEMBL) |
|
Bile acids | Pathway | WP4389 (WikiPathways) | |
CETP | GeneProduct | ENSG00000087237 (Ensembl) | |
Cholesterol | Metabolite | CHEBI:16113 (ChEBI) | |
Classical steroidogenesis (including diseases) | Pathway | WP4523 (WikiPathways) | |
Cyclic fatty acids | Metabolite | CHEBI:59238 (ChEBI) | |
IDL | Metabolite | CHEBI:132933 (ChEBI) | Itermediate-density lipoprotein (IDL), physiologically a short lived species, containd around equimolar amounts of cholesterol and Triglycerides (TG). |
LCAT | GeneProduct | ENSG00000213398 (Ensembl) | AKA Lecithin-cholesterol acyl transferase |
LDL | Metabolite | CHEBI:39026 (ChEBI) | Low-density lipoprotein (LDL) is one of the two main cholesterol carrying lipoproteins, which are spheroidal macromolecular complexes responsible for transporting lipids through plasma. |
LDLRAP1 | Protein | Q5SW96 (Uniprot-TrEMBL) |
|
LDLR | Protein | ENSG00000130164 (Ensembl) | |
LDLR | Protein | P01130 (Uniprot-TrEMBL) | LDL-receptor |
LIPC | GeneProduct | P11150 (Uniprot-TrEMBL) | HL; EC 3.1.1.3 |
LIPG | GeneProduct | Q9Y5X9 (Uniprot-TrEMBL) | HL; EC 3.1.1.3 aka LIPC |
LPL | GeneProduct | ENSG00000175445 (Ensembl) | |
MTP | GeneProduct | P55157 (Uniprot-TrEMBL) | "Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces. Required for the secretion of plasma lipoproteins that contain apolipoprotein B." [https://www.uniprot.org/uniprot/P55157] |
MTTP | GeneProduct | P55157 (Uniprot-TrEMBL) | MTP; "Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces. Required for the secretion of plasma lipoproteins that contain apolipoprotein B." [https://www.uniprot.org/uniprot/P55157] |
Nuclear hormone receptors (involved in sterol metabolism) | Pathway | WP299 (WikiPathways) | |
Oxysterols | Pathway | WP4545 (WikiPathways) |
|
PCSK9 | GeneProduct | ENSG00000169174 (Ensembl) | |
Remnant receptor | Protein | IPR038003 (InterPro) | "The chylomicron remnant receptor accepts apoE as a ligand. Chylomicron remnants are removed from the circulation exclusively by the liver, probably because these large complexes can penetrate the unique sinusoidal vascular space. The multifunctional, α2-macroglobulin/LDL receptor-related protein (LRP) is the chylomicron remnant receptor" [https://doi.org/10.1016/B978-1-4160-6189-2.00072-X] |
SCARB1 | Protein | Q8WTV0 (Uniprot-TrEMBL) | SR-B1; AKA SCARB1; Receptor for HDL, mediating selective uptake of cholesteryl ether and HDL-dependent cholesterol efflux. |
Steroid biosynthesis (general overview) | Pathway | WP496 (WikiPathways) | |
VLDL | Metabolite | CHEBI:39027 (ChEBI) | Very low-density lipoprotein (VLDL) is one of the two main TG (triglyceride or triacylglycerol) carrying lipoproteins, which are spheroidal macromolecular complexes responsible for transporting lipids through plasma. |
Vit. D pathway | Pathway | WP1531 (WikiPathways) | |
apo B-48 | Protein | P04114 (Uniprot-TrEMBL) |
|
Annotated Interactions
Source | Target | Type | Database reference | Comment |
---|---|---|---|---|
mim-conversion | 12046 (Rhea) | |||
mim-conversion | 38497 (Rhea) |