NPC1L1

Available structuresPDBOrtholog search:List of PDB id codes

Available structures

PDBOrtholog search:

List of PDB id codes

Identifiers

Aliases, NPC11L1, NPC1 like intracellular cholesterol transporter 1, SLC65A2, LDLCQ7

External IDsOMIM: ; MGI: ; HomoloGene: ; GeneCards: ; OMA:

Gene location ( Human )

Chr.Chromosome 7 (human)

Band 7p13 Start 44,512,535 bp

End44,541,330 bp

Gene location ( Mouse )

Chr.Chromosome 11 (mouse)

Band 11|11 A1 Start 6,161,013 bp

End6,180,143 bp

RNA expression patternHumanMouse (ortholog)jejunal mucosa duodenum right lobe of liver testicle islet of Langerhans gallbladder muscle layer of sigmoid colon right coronary artery Descending thoracic aorta popliteal arteryepithelium of small intestine jejunum ileum duodenum migratory enteric neural crest cell embryo Paneth cell morula blastocyst yolk sacn/a

RNA expression pattern

HumanMouse (ortholog)jejunal mucosa duodenum right lobe of liver testicle islet of Langerhans gallbladder muscle layer of sigmoid colon right coronary artery Descending thoracic aorta popliteal arteryepithelium of small intestine jejunum ileum duodenum migratory enteric neural crest cell embryo Paneth cell morula blastocyst yolk sac

Human Mouse (ortholog)

jejunal mucosa duodenum right lobe of liver testicle islet of Langerhans gallbladder muscle layer of sigmoid colon right coronary artery Descending thoracic aorta popliteal arteryepithelium of small intestine jejunum ileum duodenum migratory enteric neural crest cell embryo Paneth cell morula blastocyst yolk sac

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

epithelium of small intestine jejunum ileum duodenum migratory enteric neural crest cell embryo Paneth cell morula blastocyst yolk sac

n/a

Gene ontologyMolecular functionCellular componentBiological processSources: /

Gene ontology

Molecular function

Cellular component

Biological process

Sources: /

OrthologsSpeciesHumanMouseEntrez Ensembl UniProtRefSeq (mRNA)RefSeq (protein)n/aLocation (UCSC)PubMed search

Orthologs

Species Human Mouse

Entrez

Ensembl

UniProt

RefSeq (mRNA)

RefSeq (protein) n/a

n/a

Location (UCSC)

PubMed search

Wikidata

View/Edit HumanView/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.

External links

at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
Overview of all the structural information available in the PDB for UniProt: (Human NPC1-like intracellular cholesterol transporter 1) at the PDBe-KB.