NPC1L1

NPC1L1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3QNT
Identifiers
Aliases	NPC1L1, NPC11L1, NPC1 like intracellular cholesterol transporter 1, SLC65A2, LDLCQ7
External IDs	OMIM: 608010; MGI: 2685089; HomoloGene: 56585; GeneCards: NPC1L1; OMA:NPC1L1 - orthologs
Gene location (Human)
Chr.	Chromosome 7 (human)
End	44,541,330 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	6,180,143 bp
RNA expression pattern
	Top expressed in
	jejunal mucosa; ; duodenum; ; right lobe of liver; ; testicle; ; islet of Langerhans; ; gallbladder; ; muscle layer of sigmoid colon; ; right coronary artery; ; Descending thoracic aorta; ; popliteal artery;
	Top expressed in
	epithelium of small intestine; ; jejunum; ; ileum; ; duodenum; ; migratory enteric neural crest cell; ; embryo; ; Paneth cell; ; morula; ; blastocyst; ; yolk sac;
	More reference expression data
	n/a
Gene ontology
Molecular function	myosin V binding; protein binding;
Cellular component	membrane; plasma membrane; brush border membrane; apical plasma membrane; cytoplasmic vesicle membrane; cytoplasmic vesicle; integral component of membrane; spanning component of plasma membrane;
Biological process	lipoprotein metabolic process; steroid metabolic process; lipid metabolism; cholesterol transport; cholesterol metabolic process; intestinal cholesterol absorption; cholesterol biosynthetic process; intestinal lipid absorption; cellular response to sterol depletion;
	Sources:Amigo / QuickGO
Orthologs
	29881
	237636
	ENSG00000015520
	ENSMUSG00000020447
	Q9UHC9
	Q6T3U4
	NM_001101648; NM_001300967; NM_013389
	NM_207242
	NP_001095118; NP_001287896; NP_037521
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

Niemann-Pick C1-Like 1 (NPC1L1) is a protein found on the gastrointestinal tract's epithelial cells as well as in hepatocytes. Specifically, it appears to bind to a critical mediator of cholesterol absorption.

The drug ezetimibe inhibits NPC1L1 causing a reduction in cholesterol absorption, resulting in a blood cholesterol reduction of 15-20%. Polymorphic variations in the NPC1L1 gene could be associated with non-response to ezetimibe treatment. One study found that people with inactivating mutations in the NPC1L1 gene had a lower LDL cholesterol level, as well as an around 50% reduction in the risk of coronary heart disease.

NPC1L1 has been shown to be an accessory receptor for hepatitis C virus entry into cells, and thus ezetimibe might be used as a therapeutic strategy.

As cancer appeared more frequently in patients treated with simvastatin-ezetimibe combination therapy in one clinical trial, it had been hypothesized that NPC1L1 inhibition by ezetimibe might be associated with an increased cancer risk. However, a meta-analysis of ezetimibe clinical data showed no increase in the risk of cancer from treatment with ezetimibe.