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NPC1 Antibody (Center) Blocking peptide
Synthetic peptide
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
| Primary Accession | O15118 |
|---|---|
| Clone Names | 100409031 |
| Gene ID | 4864 |
|---|---|
| Other Names | Niemann-Pick C1 protein, NPC1 |
| Target/Specificity | The synthetic peptide sequence used to generate the antibody AP13472c was selected from the Center region of NPC1. A 10 to 100 fold molar excess to antibody is recommended. Precise conditions should be optimized for a particular assay. |
| Format | Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed. |
| Storage | Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C. |
| Precautions | This product is for research use only. Not for use in diagnostic or therapeutic procedures. |
| Name | NPC1 (HGNC:7897) |
|---|---|
| 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 (PubMed:9211849, PubMed:9927649, PubMed:10821832, PubMed:18772377, PubMed:27238017, PubMed:12554680). 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 (PubMed:9211849, PubMed:9927649, PubMed:18772377, PubMed:19563754, PubMed:27238017, PubMed:28784760, PubMed:27378690). Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket (PubMed:19563754). 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). Inhibits cholesterol-mediated mTORC1 activation throught its interaction with SLC38A9 (PubMed:28336668). |
| Cellular Location | Late endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein |
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Provided below are standard protocols that you may find useful for product applications.
Background
This gene encodes a large protein that resides in thelimiting membrane of endosomes and lysosomes and mediatesintracellular cholesterol trafficking via binding of cholesterol toits N-terminal domain. It is predicted to have a cytoplasmicC-terminus, 13 transmembrane domains, and 3 large loops in thelumen of the endosome - the last loop being at the N-terminus. Thisprotein transports low-density lipoproteins to lateendosomal/lysosomal compartments where they are hydrolized andreleased as free cholesterol. Defects in this gene causeNiemann-Pick type C disease, a rare autosomal recessiveneurodegenerative disorder characterized by over accumulation ofcholesterol and glycosphingolipids in late endosomal/lysosomalcompartments.
References
Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010)Fontaine-Bisson, B., et al. Diabetologia 53(10):2155-2162(2010)Kagedal, K., et al. Biochim. Biophys. Acta 1801(8):831-838(2010)Rodriguez-Rodriguez, E., et al. J. Alzheimers Dis. 21(2):619-625(2010)Ma, W., et al. BMC Med. Genet. 11, 149 (2010) :
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