Plays 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 absorption. 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. Acts as a negative regulator of NPC2 and down-regulates its expression and secretion by inhibiting its maturation and accelerating its degradation. 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 ...more
Description of the protein which includes the UniProt Function and the NCBI Gene Summary.
Uniprot linked accession values, symbols or commonly used abbreviations associated with this particular target.
Approved gene symbol with link to HUGO Gene Nomenclature Committee.
Ensembl identifier links.
List of abbreviations or acronyms of the full target name.
Radar plot depicting the variety of knowledge obtained by Pharos for a particular target. The more spikes in the plot, the more variety. The longer the length, the higher the quantity of that particular knowledge. Clicking the illumination graph opens an expanded view to explore the plot fuller by seeing plot with annotations of the different radii.
Table representing the top 5 knowledge attributes in the illumination graph. The knowledge value property is on a scale of 0 to 1.
Gene symbols, accession ids and various other target identifiers. Also contains the illumination graph which highlights the amount of knowledge available. Click the '?' button for more information
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Hierarchical classifications for this protein from different ontologies.
Classes for this protein according to by Drug Target Ontology (DTO).
Explore targets in this DTO class
Descriptions of the IDG illumination levels, highlighting the milestones attained in research for this target.
Jensen Lab generated fractional counting score for the prevalence of this gene in Pubmed articles.
Total count of NCBI Gene Reference Into Function hits for target listed in parenthesis, and summary table with links to publications per PMID with the specific text in article that includes the reported target.
Number of antibodies for this target listed in antibodypedia.com
Number of Gene Ontology (GO) annotations for this target, consisting of the sum of GO Functions and GO Processes.
Ligands associated with a target, listed in ChEMBL, with activity over a cutoff relative to the targetclass.