|Other Names||Niemann-Pick C1-like protein 1, NPC1L1|
|Target/Specificity||The synthetic peptide sequence is selected from aa 309-323 of HUMAN NPC1L1|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Plays a major role in cholesterol homeostasis. Is critical for the uptake of cholesterol across the plasma membrane of the intestinal enterocyte. Is the direct molecular target of ezetimibe, a drug that inhibits cholesterol absorption. Lack of activity leads to multiple lipid transport defects. The protein may have a function in the transport of multiple lipids and their homeostasis, and may play a critical role in regulating lipid metabolism. Acts as a negative regulator of NPC2 and down- regulates its expression and secretion by inhibiting its maturation and accelerating its degradation.|
|Cellular Location||Apical cell membrane; Multi-pass membrane protein. Cell membrane; Multi- pass membrane protein. Cytoplasmic vesicle membrane; Multi-pass membrane protein. Note=Subfractionation of brush border membranes from proximal enterocytes suggests considerable association with the apical membrane fraction. Exists as a predominantly cell surface membrane expressed protein (By similarity). According to PubMed:15671032, localizes in a subcellular vesicular compartment rich in RAB5.|
|Tissue Location||Widely expressed. Expressed in liver. Also expressed in small intestine, pancreas, kidney, lung, pancreas, spleen, heart, gall bladder, brain, testis, stomach and muscle|
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The protein encoded by this gene is a multi-pass membrane protein. It contains a conserved N-terminal Niemann-Pick C1 (NPC1) domain and a putative sterol-sensing domain (SSD) which includes a YQRL motif functioning as a plasma membrane to trans-Golgi network transport signal in other proteins. This protein takes up free cholesterol into cells through vesicular endocytosis and plays a critical role in the absorption of intestinal cholesterol. It also has the ability to transport alpha-tocopherol (vitamin E). The drug ezetimibe targets this protein and inhibits the absorption of intestinal cholesterol and alpha-tocopherol. In addition, this protein may play a critical role in regulating lipid metabolism. Polymorphic variations in this gene are associated with plasma total cholesterol and low-density lipoprotein cholesterol (LDL-C) levels and coronary heart disease (CHD) risk. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Hu, M., et al. Pharmacogenet. Genomics 20(10):634-637(2010)
Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010)
Teslovich, T.M., et al. Nature 466(7307):707-713(2010)
Pramfalk, C., et al. J. Lipid Res. 51(6):1354-1362(2010)
Maeda, T., et al. J. Atheroscler. Thromb. 17(4):356-360(2010)
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