Gene: NPC1L1
Alternate names for this Gene: LDLCQ7|NPC11L1|SLC65A2
Gene Summary: 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.
Gene is located in Chromosome: 7
Location in Chromosome : 7p13
Description of this Gene: NPC1 like intracellular cholesterol transporter 1
Type of Gene: protein-coding
rs17725246 in
NPC1L1 gene and
Cardiovascular Diseases
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs17725246 in
NPC1L1 gene and
Low density lipoprotein cholesterol measurement
PMID 22629316 2012 Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.
PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.
rs17725246 in
NPC1L1 gene and
Serum LDL cholesterol measurement
PMID 22629316 2012 Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
rs17725246 in
NPC1L1 gene and
Serum total cholesterol measurement
PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.