NPC1L1 blocking peptide

NPC1L1 Blocking Peptide (N-term)

• Gene Names: NPC1L1; NPC11L1
• Synonyms: NPC1L1; NPC1L1 Blocking Peptide (N-term); Niemann-Pick C1-like protein 1; NPC1L1 blocking peptide

• Specificity: The synthetic peptide sequence is selected from aa 309-323 of HUMAN NPC1L1
• Form/Format: Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.
• Sequence Length: 1359

• Cellular Location: Apical cell membrane; Multi-pass membrane protein. Cell membrane; Multi- pass membrane protein. 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 PubMed:15671032, localizes in a subcellular vesicular compartment rich in RAB5.
• Tissue Location: Widely expressed. Expressed in liver. Also expressed in small intestine, pancreas, kidney, lung, pancreas, spleen, heart, gall bladder, brain, testis, stomach and muscle
• Preparation and Storage: Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Related Product Information for NPC1L1 blocking peptide

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.

NCBI and Uniprot Product Information

• NCBI GI #: 156231351
• NCBI GeneID: 29881
• NCBI Accession #: NP_037521.2
• NCBI GenBank Nucleotide #: NM_013389.2
• UniProt Accession #: Q9UHC9; Q17RV5; Q6R3Q4; Q9UHC8; A4D2J7; B7ZLE6; D3DVK9
• Molecular Weight: 140,420 Da
• NCBI Official Full Name: Niemann-Pick C1-like protein 1 isoform 1
• NCBI Official Synonym Full Names: NPC1 like intracellular cholesterol transporter 1
• NCBI Official Symbol: NPC1L1
• NCBI Official Synonym Symbols: NPC11L1
• NCBI Protein Information: Niemann-Pick C1-like protein 1
• UniProt Protein Name: Niemann-Pick C1-like protein 1
• Protein Family: Niemann-Pick C1-like protein
• UniProt Gene Name: NPC1L1
• UniProt Entry Name: NPCL1_HUMAN

NCBI Description

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 Description

NPC1L1: Play 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. Interacts with RAB11A, MYO5B and RAB11FIP2. Interaction with RAB11A, MYO5B and RAB11FIP2 is required for proper transport to the plasma membrane upon cholesterol depletion. Expression is decreased in Caco-2 cells upon PPARD activation. Widely expressed. Expressed in liver. Also expressed in small intestine, pancreas, kidney, lung, pancreas, spleen, heart, gall bladder, brain, testis, stomach and muscle. Belongs to the patched family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 7p13

Cellular Component: integral to membrane; plasma membrane

Molecular Function: myosin V binding; protein binding; Rab GTPase binding

Biological Process: cholesterol absorption; cholesterol biosynthetic process; cholesterol transport; lipoprotein metabolic process; sterol transport