Recombinant Human NPC1-like intracellular cholesterol transporter 1 (NPC1L1), Truncated

Uniprot Id

Q9UHC9

Target Species

Human

Target Name

NPC1L1

Target Full Name

NPC1-like intracellular cholesterol transporter 1

Target Function

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.

Target Subcellular Location

Apical cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane; Multi-pass membrane protein.

Target Protein Families

Patched family

Target Tissue Specificity

Widely expressed. Expressed in liver. Also expressed in small intestine, pancreas, kidney, lung, pancreas, spleen, heart, gall bladder, brain, testis, stomach and muscle.

Target Research Area

Cardiovascular

Target Synonyms

Niemann Pick C1 like protein 1; Niemann Pick disease type C1 gene like 1; Niemann-Pick C1-like protein 1; NPC1 LIKE 1; NPC1 Niemann Pick disease type C1 gene like 1; NPC1L1; NPC1L1 splice variant ; NPCL1_HUMAN; Truncated Niemann Pick C1 like protein 1

Target Background

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.