UniprotKB/SwissProt ID: Q9UHC9 (Q9UHC9)
Gene Name:
NPC1L1
Organism: Homo sapiens (Human)
Function: Plays a major role in cholesterol homeostasis (PubMed:22095670). Critical for the uptake of cholesterol across the plasma membrane of the intestinal enterocyte (PubMed:22095670). Involved in plant sterol absorption, it transports sitosterol, although at lower rates than cholesterol (By similarity). Is the direct molecular target of ezetimibe, a drug that inhibits cholesterol absorption and is approved for the treatment of hypercholesterolemia (PubMed:15928087). May have a function in the transport of multiple lipids and their homeostasis, thereby influencing lipid metabolism regulation (PubMed:15671032). May be involved in caveolin trafficking from the plasma membrane (By similarity). In addition, acts as a negative regulator of NPC2 and down-regulates its expression and secretion by inhibiting its maturation and accelerating its degradation (PubMed:22095670)
Other Modifications: View all modification sites in dbPTM
Protein Subcellular Localization: Apical cell membrane. Cell membrane. Cytoplasmic vesicle membrane
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