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MGP000530

UniProt Annotations

Entry Information
Gene Namecholesteryl ester transfer protein, plasma
Protein EntryCETP_HUMAN
UniProt IDP11597
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P11597-1; Sequence=Displayed; Name=2; IsoId=P11597-2; Sequence=VSP_023645;
DiseaseHyperalphalipoproteinemia 1 (HALP1) [MIM:143470]: A condition characterized by high levels of high density lipoprotein (HDL) and increased HDL cholesterol levels. {ECO:0000269|PubMed:12091484, ECO:0000269|PubMed:2215607, ECO:0000269|PubMed:8408659}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionInvolved in the transfer of neutral lipids, including cholesteryl ester and triglyceride, among lipoprotein particles. Allows the net movement of cholesteryl ester from high density lipoproteins/HDL to triglyceride-rich very low density lipoproteins/VLDL, and the equimolar transport of triglyceride from VLDL to HDL (PubMed:3600759, PubMed:24293641). Regulates the reverse cholesterol transport, by which excess cholesterol is removed from peripheral tissues and returned to the liver for elimination (PubMed:17237796). {ECO:0000269|PubMed:24293641, ECO:0000303|PubMed:17237796, ECO:0000305|PubMed:3600759}.
PolymorphismGenetic variations in CETP define the high density lipoprotein cholesterol level quantitative trait locus 10 (HDLCQ10) [MIM:143470].
SimilarityBelongs to the BPI/LBP/Plunc superfamily. BPI/LBP family. {ECO:0000305}.
Subcellular LocationSecreted, extracellular space {ECO:0000269|PubMed:24293641}. Note=Secreted in plasma. {ECO:0000250|UniProtKB:P47896}.
Tissue SpecificityExpressed by the liver and secreted in plasma.
Web ResourceName=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=CETP";
Web ResourceName=Wikipedia; Note=Cholesterylester transfer protein entry; URL="http://en.wikipedia.org/wiki/Cholesterylester_transfer_protein";
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