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Product Name Niemann Pick C1 Like 1 Chinese Name 鞘磷脂沉积病C1样蛋白1抗体 Alias 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. Research Area Tumour Cell biology immunology Neurobiology Signal transduction Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, ) Applications ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 146kDa Cellular localization The cell membrane Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human Niemann Pick C1 Like 1: 51-150/1359 <Extracellular> Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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]
Function:
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.
Subcellular Location:
Apical cell membrane. Cell membrane. Cytoplasmic vesicle membrane. 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 Specificity:
Widely expressed. Expressed in liver. Also expressed in small intestine, pancreas, kidney, lung, pancreas, spleen, heart, gall bladder, brain, testis, stomach and muscle.
Post-translational modifications:
Highly glycosylated.
Similarity:
Belongs to the patched family. Contains 1 SSD (sterol-sensing) domain.
SWISS:
Q9UHC9
Gene ID:
29881
Database links:Entrez Gene: 29881 Human
Omim: 608010 Human
SwissProt: Q9UHC9 Human
Unigene: 567486 Human
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