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NPC1L1 Play 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 absorbtion. 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. Interacts with RAB11A, MYO5B and RAB11FIP2. Interaction with RAB11A, MYO5B and RAB11FIP2 is required for proper transport to the plasma membrane upon cholesterol depletion. Expression is decreased in Caco-2 cells upon PPARD activation. Widely expressed. Expressed in liver. Also expressed in small intestine, pancreas, kidney, lung, pancreas, spleen, heart, gall bladder, brain, testis, stomach and muscle. Belongs to the patched family. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 7p13
Cellular Component: integral to membrane; plasma membrane
Molecular Function: myosin V binding; protein binding; Rab GTPase binding
Biological Process: cholesterol absorption; cholesterol biosynthetic process; cholesterol transport; lipoprotein metabolic process
Reference #:  Q9UHC9 (UniProtKB)
Alt. Names/Synonyms: Niemann-Pick C1-like protein 1; NPC1 (Niemann-Pick disease, type C1, gene)-like 1; NPC11L1; NPC1L1; NPCL1
Gene Symbols: NPC1L1
Molecular weight: 148,728 Da
Basal Isoelectric point: 5.95  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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