Niemann Pick C1/NPC1 Cell Lysate | NPC1 cell lysate
Human Niemann Pick C1/NPC1 HEK293 Overexpression Lysate
Modified RIPA Lysis Buffer: 50 mM Tris-HCl pH 7.4, 150 mM NaCl, 1mM EDTA, 1% Triton X-100, 0.1% SDS, 1% Sodium deoxycholate, 1mM PMSF.
Samples are stable for up to twelve months from date of receipt.
This Human Niemann Pick C1/NPC1 overexpression lysate was created in HEK293 Cells and intented for use as a Western blot (WB) positive control. Purification of Niemann Pick C1/NPC1 protein from the overexpression lysate was verified.
NCBI and Uniprot Product Information
NCBI Description
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.[provided by RefSeq, Aug 2009]
Uniprot Description
NPC1: Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment. Both NPC1 and NPC2 function as the cellular 'tag team duo' (TTD) to catalyze the mobilization of cholesterol within the multivesicular environment of the late endosome (LE) to effect egress through the limiting bilayer of the LE. NPC2 binds unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes and transfers it to the cholesterol-binding pocket of the N-terminal domain of NPC1. Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket and is exported from the limiting membrane of late endosomes/ lysosomes to the ER and plasma membrane by an unknown mechanism. 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. Defects in NPC1 are the cause of Niemann-Pick disease type C1 (NPC1). A lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C1 has a highly variable clinical phenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood. An allelic variant of Niemann-Pick disease type C1 is found in people with Nova Scotia ancestry. Patients with the Nova Scotian clinical variant are less severely affected. Belongs to the patched family.
Protein type: Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 18q11.2
Cellular Component: Golgi apparatus; membrane; lysosome; perinuclear region of cytoplasm; integral to plasma membrane; lysosomal membrane; late endosome membrane; endoplasmic reticulum; extracellular region; integral to membrane; nuclear envelope; lipid raft
Molecular Function: protein binding; transmembrane receptor activity; sterol transporter activity; hedgehog receptor activity; cholesterol binding; receptor activity
Biological Process: response to drug; cholesterol metabolic process; lysosomal transport; cholesterol transport; bile acid metabolic process; protein amino acid glycosylation; cholesterol efflux; endocytosis; signal transduction; adult walking behavior; negative regulation of macroautophagy; cholesterol homeostasis; response to cadmium ion; autophagy; lipid raft organization and biogenesis
Disease: Niemann-pick Disease, Type C1
Research Articles on NPC1
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Product Notes
The NPC1 npc1 (Catalog #AAA8115685) is a Cell Lysate produced from HEK293 Cells and is intended for research purposes only. The product is available for immediate purchase. The immunogen sequence is 278aa. AAA Biotech's Niemann Pick C1/NPC1 can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB). WB: Use at an assay dependent dilution. Researchers should empirically determine the suitability of the NPC1 npc1 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. The amino acid sequence is listed below: His-DYKDDD DK. It is sometimes possible for the material contained within the vial of "Niemann Pick C1/NPC1, Cell Lysate" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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