NP_001095118.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
Niemann-Pick C1-like protein 1 isoform 2
NCBI Official Synonym Full Names
NPC1-like 1
NCBI Official Synonym Symbols
NCBI Protein Information
Niemann-Pick C1-like protein 1; NPC1 (Niemann-Pick disease, type C1, gene)-like 1
UniProt Protein Name
Niemann-Pick C1-like protein 1
UniProt Entry Name
NPCL1_HUMAN
NCBI Summary for NPC1L1
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. [provided by RefSeq, Oct 2009]
UniProt Comments for NPC1L1
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 absorbtion. 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. Ref.10 Ref.12
Subunit structure: Interacts with RAB11A, MYO5B and RAB11FIP2. Interaction with RAB11A, MYO5B and RAB11FIP2 is required for proper transport to the plasma membrane upon cholesterol depletion. Interacts with NPC2. Ref.11 Ref.12
Subcellular location: Apical cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein
By similarity. Cytoplasmic vesicle membrane; Multi-pass membrane protein. Note: Subfractionation of brush border membranes from proximal enterocytes suggests considerable association with the apical membrane fraction. Exists as a predominantly cell surface membrane expressed protein
By similarity. According to Ref.8, localizes in a subcellular vesicular compartment rich in RAB5. Ref.8
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. Ref.1 Ref.2 Ref.8
Induction: Expression is decreased in Caco-2 cells upon PPARD activation. Ref.9
Post-translational modification: Highly glycosylated
By similarity.
Polymorphism: Variations in NPC1L1 gene could be associated with non-response to ezetimibe treatment.
Sequence similarities: Belongs to the patched family.Contains 1 SSD (sterol-sensing) domain.
Research Articles on NPC1L1
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Products associated with anti-NPC1L1 antibody
Pathways associated with anti-NPC1L1 antibody
Diseases associated with anti-NPC1L1 antibody
Organs/Tissues associated with anti-NPC1L1 antibody
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