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| Cat.No | ACP01869 | Target Name | NPC1 |
|---|---|---|---|
| Target Synonyms | Niemann-Pick C1 protein | Form | Liquid or Lyophilized powder |
| Expression System | Yeast | Expression Range | 23-261aa |
| Mol Weight | 30.2 kDa | Protein Length | Partial |
| Purity | Greater than 90% as determined by SDS-PAGE. | Storage Buffer | 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0. |
| Target Species | Human | Uniprot ID | O15118 |
|---|
Uniprot Id
O15118
Target Species
Human
Target Name
NPC1
Target Full Name
NPC intracellular cholesterol transporter 1
Target Function
Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment. Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1. Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket. Binds oxysterol with higher affinity than cholesterol. May play a role in vesicular trafficking in glia, a process that may be crucial for maintaining the structural and functional integrity of nerve terminals (Probable).; (Microbial infection) Acts as an endosomal entry receptor for ebolavirus.
Target Involvement
Niemann-Pick disease C1 (NPC1)
Target Subcellular Location
Late endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein.
Target Protein Families
Patched family
Target Research Area
Cardiovascular, Transcription
Target Synonyms
Niemann Pick C1 protein precursor; Niemann Pick disease, type C1; Niemann-Pick C1 protein; NPC; NPC1; NPC1_HUMAN
Target Background
This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.
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