NPC1 Antibody (Center)
Affinity Purified Rabbit Polyclonal Antibody (Pab)
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Application
| WB, IF, IHC-P, E |
---|---|
Primary Accession | O15118 |
Other Accession | NP_000262.2 |
Reactivity | Human |
Host | Rabbit |
Clonality | Polyclonal |
Isotype | Rabbit IgG |
Calculated MW | 142167 Da |
Antigen Region | 591-620 aa |
Gene ID | 4864 |
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Other Names | Niemann-Pick C1 protein, NPC1 |
Target/Specificity | This NPC1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 591-620 amino acids from the Central region of human NPC1. |
Dilution | IF~~1:10~50 WB~~1:1000 IHC-P~~1:10~50 |
Format | Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification. |
Storage | Maintain refrigerated at 2-8°C for up to 2 weeks. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles. |
Precautions | NPC1 Antibody (Center) is for research use only and not for use in diagnostic or therapeutic procedures. |
Name | NPC1 (HGNC:7897) |
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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:10821832, PubMed:12554680, PubMed:18772377, PubMed:27238017, PubMed:9211849, PubMed:9927649). 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:18772377, PubMed:19563754, PubMed:27238017, PubMed:27378690, PubMed:28784760, PubMed:9211849, PubMed:9927649). 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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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.
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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