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Niemann Pick Disease Type C1 Gene Like Protein 1 (NPC1L1)

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Niemann Pick Disease Type C1 Gene Like Protein 1 (NPC1L1)
CCC P830
HGNC 7898
MGI 2685089
PubMed 21525977
RGD 1303135
UniProt Q9UHC9
Wiki NPC1L1
NPC1L1 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Niemann Pick Disease Type C1 Gene Like Protein 1 (NPC1L1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Niemann Pick Disease Type C1 Gene Like Protein 1 (NPC1L1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Niemann Pick Disease Type C1 Gene Like Protein 1 (NPC1L1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Niemann Pick Disease Type C1 Gene Like Protein 1 (NPC1L1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Niemann Pick Disease Type C1 Gene Like Protein 1 (NPC1L1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Niemann Pick Disease Type C1 Gene Like Protein 1 (NPC1L1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Niemann Pick Disease Type C1 Gene Like Protein 1 (NPC1L1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Niemann Pick Disease Type C1 Gene Like Protein 1 (NPC1L1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Niemann Pick Disease Type C1 Gene Like Protein 1 (NPC1L1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Niemann Pick Disease Type C1 Gene Like Protein 1 (NPC1L1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Niemann Pick Disease Type C1 Gene Like Protein 1 (NPC1L1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Niemann Pick Disease Type C1 Gene Like Protein 1 (NPC1L1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Niemann Pick Disease Type C1 Gene Like Protein 1 (NPC1L1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Niemann Pick Disease Type C1 Gene Like Protein 1 (NPC1L1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Niemann Pick Disease Type C1 Gene Like Protein 1 (NPC1L1) ELISA Kit Customized Service Offer
  1. "Evidence for a Niemann-Pick C (NPC) gene family: identification and characterization of NPC1L1."Genomics 65:137-145(2000) [PubMed] [Europe PMC] [Abstract]
  2. "Niemann-Pick C1 like 1 protein is critical for intestinal cholesterol absorption."Science 303:1201-1204(2004) [PubMed] [Europe PMC] [Abstract]
  3. "Membrane topology of human NPC1L1, a key protein in enterohepatic cholesterol absorption."J. Lipid Res. 50:1653-1662(2009) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence of human chromosome 7." Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
  5. "Human chromosome 7: DNA sequence and biology." Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Inactivation of NPC1L1 causes multiple lipid transport defects and protects against diet-induced hypercholesterolemia."J. Biol. Chem. 280:12710-12720(2005) [PubMed] [Europe PMC] [Abstract]
  8. "Reduced cholesterol absorption upon PPARdelta activation coincides with decreased intestinal expression of NPC1L1."J. Lipid Res. 46:526-534(2005) [PubMed] [Europe PMC] [Abstract]
  9. "The target of ezetimibe is Niemann-Pick C1-like 1 (NPC1L1)." Proc. Natl. Acad. Sci. U.S.A. 102:8132-8137(2005) [PubMed] [Europe PMC] [Abstract]
  10. "Requirement of myosin Vb.Rab11a.Rab11-FIP2 complex in cholesterol-regulated translocation of NPC1L1 to the cell surface."J. Biol. Chem. 284:22481-22490(2009) [PubMed] [Europe PMC] [Abstract]
  11. "Novel function of Niemann-Pick C1-like 1 as a negative regulator of Niemann-Pick C2 protein."Hepatology 55:953-964(2012) [PubMed] [Europe PMC] [Abstract]
  12. "The structure of the NPC1L1 N-terminal domain in a closed conformation."PLoS ONE 6:E18722-E18722(2011) [PubMed] [Europe PMC] [Abstract]
  13. "Compound heterozygosity for two non-synonymous polymorphisms in NPC1L1 in a non-responder to ezetimibe."Clin. Genet. 67:175-177(2005) [PubMed] [Europe PMC] [Abstract]