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Mouse Anti-NPC1 Recombinant Antibody (BA0413) (CBMAB-0533CQ)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
BA0413
Antibody Isotype
IgG2a, κ
Application
WB, ICC, IHC-P, IF, FC

Basic Information

Immunogen
Amino acids 151-250 of Human Niemann Pick C1
Specificity
Human
Antibody Isotype
IgG2a, κ
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Purity
>95% as determined by analysis by SDS-PAGE
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Niemann-Pick disease, type C1
Introduction
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. Morris et al. (1999) defined the genomic structure of NPC1 along with the 5-prime flanking sequence. The NPC1 gene spans more than 47 kb and contains 25 exons. All intron/exon boundaries follow the GT/AG rule. The 5-prime flanking sequence has a CpG island containing multiple Sp1 sites indicative of a promoter region. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Carstea et al. (1997) showed that transfection of NPC fibroblasts with wildtype NPC1 cDNA resulted in correction of their excessive lysosomal storage of LDL cholesterol, thereby defining the critical role of NPC1 in regulation of intracellular cholesterol trafficking.
Entrez Gene ID
4864
UniProt ID
O15118
Alternative Names
NPC
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).
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).
(Microbial infection) Acts as an endosomal entry receptor for ebolavirus.
Biological Process
Adult walking behaviorIEA:Ensembl
AutophagyManual Assertion Based On ExperimentIGI:MGI
Bile acid metabolic processISS:UniProtKB
Cellular response to low-density lipoprotein particle stimulusIEA:Ensembl
Cellular response to steroid hormone stimulusIEA:Ensembl
Cholesterol effluxManual Assertion Based On ExperimentIDA:BHF-UCL
Cholesterol homeostasisManual Assertion Based On ExperimentIDA:UniProtKB
Cholesterol metabolic processIEA:UniProtKB-KW
Cholesterol transportManual Assertion Based On ExperimentIDA:UniProtKB
EndocytosisIEA:Ensembl
Establishment of protein localization to membraneManual Assertion Based On ExperimentIDA:UniProtKB
Gene expressionIEA:Ensembl
Intracellular cholesterol transportManual Assertion Based On ExperimentIMP:UniProtKB
Lysosomal transportISS:UniProtKB
Membrane raft organizationManual Assertion Based On ExperimentIMP:UniProtKB
Negative regulation of cell deathIEA:Ensembl
Negative regulation of macroautophagyIEA:Ensembl
Protein glycosylationManual Assertion Based On ExperimentIDA:UniProtKB
Response to cadmium ionIEA:Ensembl
Response to xenobiotic stimulusIEA:Ensembl
Viral entry into host cellManual Assertion Based On ExperimentIMP:CACAO
Cellular Location
Late endosome membrane
Lysosome membrane
Involvement in disease
Niemann-Pick disease 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.
Topology
Lumenal: 23-261
Helical: 262-282
Cytoplasmic: 283-350
Helical: 351-371
Lumenal: 372-620
Helical: 621-641
Cytoplasmic: 642-653
Helical: 654-675
Lumenal: 676-685
Helical: 686-706
Cytoplasmic: 707-730
Helical: 731-751
Lumenal: 752-759
Helical: 760-783
Cytoplasmic: 784-832
Helical: 833-853
Lumenal: 854-1097
Helical: 1098-1118
Cytoplasmic: 1119-1124
Helical: 1125-1145
Lumenal: 1146-1150
Helical: 1151-1171
Cytoplasmic: 1172-1194
Helical: 1195-1215
Lumenal: 1216-1223
Helical: 1224-1244
Cytoplasmic: 1245-1278
PTM
N-glycosylated.
More Infomation

Caria, I., Nunes, M. J., Ciraci, V., Carvalho, A. N., Ranito, C., Santos, S. G., ... & Rodrigues, E. (2024). NPC1-like phenotype, with intracellular cholesterol accumulation and altered mTORC1 signaling in models of Parkinson's disease. Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease, 1870(2), 166980.

Kunkel, T. J., Townsend, A., Sullivan, K. A., Merlet, J., Schuchman, E. H., Jacobson, D. A., & Lieberman, A. P. (2023). The cholesterol transporter NPC1 is essential for epigenetic regulation and maturation of oligodendrocyte lineage cells. Nature Communications, 14(1), 3964.

Altuzar, J., Notbohm, J., Stein, F., Haberkant, P., Hempelmann, P., Heybrock, S., ... & Höglinger, D. (2023). Lysosome-targeted multifunctional lipid probes reveal the sterol transporter NPC1 as a sphingosine interactor. Proceedings of the National Academy of Sciences, 120(11), e2213886120.

Davis, O. B., Shin, H. R., Lim, C. Y., Wu, E. Y., Kukurugya, M., Maher, C. F., ... & Zoncu, R. (2021). NPC1-mTORC1 signaling couples cholesterol sensing to organelle homeostasis and is a targetable pathway in Niemann-Pick type C. Developmental cell, 56(3), 260-276.

Qian, H., Wu, X., Du, X., Yao, X., Zhao, X., Lee, J., ... & Yan, N. (2020). Structural basis of low-pH-dependent lysosomal cholesterol egress by NPC1 and NPC2. Cell, 182(1), 98-111.

Saha, P., Shumate, J. L., Caldwell, J. G., Elghobashi-Meinhardt, N., Lu, A., Zhang, L., ... & Pfeffer, S. R. (2020). Inter-domain dynamics drive cholesterol transport by NPC1 and NPC1L1 proteins. Elife, 9, e57089.

van den Boomen, D. J., Sienkiewicz, A., Berlin, I., Jongsma, M. L., van Elsland, D. M., Luzio, J. P., ... & Lehner, P. J. (2020). A trimeric Rab7 GEF controls NPC1-dependent lysosomal cholesterol export. Nature Communications, 11(1), 5559.

Höglinger, D., Burgoyne, T., Sanchez-Heras, E., Hartwig, P., Colaco, A., Newton, J., ... & Eden, E. R. (2019). NPC1 regulates ER contacts with endocytic organelles to mediate cholesterol egress. Nature communications, 10(1), 4276.

Pfeffer, S. R. (2019). NPC intracellular cholesterol transporter 1 (NPC1)-mediated cholesterol export from lysosomes. Journal of Biological Chemistry, 294(5), 1706-1709.

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For research use only. Not intended for any clinical use.

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