Niemann-Pick C1 Protein

A transmembrane intracellular lipid transporter that helps trafficking lipids, particularly cholesterol, from late endosome/lysosome to the ER and plasma membrane. It may also play a role in other cellular cholesterol homeostasis and is an endosomal entry receptor for filoviruses including EBOLAVIRUS. Mutations in the NPC1 are associated with type C NIEMANN-PICK DISEASE.

Also Known As:

Networked: 32 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Experts

1.	Repa, Joyce J: 3 articles (01/2021 - 02/2009)
2.	Ory, Daniel S: 3 articles (01/2017 - 09/2009)
3.	Erickson, Robert P: 2 articles (07/2010 - 06/2002)
4.	Heidenreich, Randall A: 2 articles (07/2010 - 06/2002)
5.	Kang, Kyung-Sun: 2 articles (01/2008 - 02/2006)
6.	Kim, Sun-Jung: 2 articles (01/2008 - 02/2006)
7.	Chu, Ting-Ting: 1 article (01/2021)
8.	Tu, Xintao: 1 article (01/2021)
9.	Wu, Jianjun: 1 article (01/2021)
10.	Yan, Nan: 1 article (01/2021)

Related Diseases

1.	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 12/08/2022 - "Species-specific differences in NPC1 protein trafficking govern therapeutic response in Niemann-Pick type C disease." 03/21/2013 - "In Niemann-Pick type C disease, the most prevalent I1061T mutation inhibits folding and trafficking of the NPC1 protein to the endosomes/lysosomes. " 10/01/2000 - "The regional pattern of NPC1 expression suggests that areas normally expressing low levels of the NPC1 protein are more susceptible to neuronal degeneration in Niemann-Pick type C disease." 09/01/2000 - "Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts." 02/17/2009 - "Niemann-Pick type C disease is largely attributable to an inactivating mutation of NPC1 protein, which normally aids movement of unesterified cholesterol (C) from the endosomal/lysosomal (E/L) compartment to the cytosolic compartment of cells throughout the body. "
2.	Neurodegenerative Diseases (Neurodegenerative Disease) 01/01/2016 - "The fatal neurodegenerative disorder Niemann-Pick type C (NPC) is caused in most cases by mutations in NPC1, which encodes the late endosomal NPC1 protein. " 01/01/2008 - "The Niemann-Pick type C1 (NPC1) disease is one of the neurodegenerative diseases, caused by a mutation of NPC1 gene which affects the function of NPC1 protein. " 02/01/2006 - "The Niemann-Pick type C1 (NPC1) disease is a neurodegenerative disease caused by a mutation of the NPC1 gene that affects the function of the NPC1 protein. " 03/01/2014 - "The loss of NPC1 protein function is the predominant cause of Niemann-Pick type C1 disease (NP-C1), a systemic and neurodegenerative disorder characterized by late-endosomal/lysosomal accumulation of cholesterol and other lipids. " 09/11/2009 - "Niemann-Pick type C (NPC) disease is a fatal neurodegenerative disorder caused most commonly by a defect in the NPC1 protein and characterized by widespread intracellular accumulation of unesterified cholesterol and glycosphingolipids (GSLs). "
3.	Infections 01/01/2018 - "Infection of cells with the E-S-FLU virus was dependent on the Niemann-Pick C1 protein, which is the well-characterized receptor for Ebola virus entry at the late endosome/lysosome membrane. " 10/01/2015 - "These inhibitors (1) inhibit EBOV infection (50% inhibitory concentration, approximately 0.28 and approximately 10 µmol/L) at a late stage of entry, (2) induce Niemann-Pick C phenotype, and (3) inhibit GP-Niemann-Pick C1 (NPC1) protein interaction. " 02/01/2012 - "Details of the molecular events following cathepsin-dependent trimming of GP(1) are currently incomplete; however, the processed GP(1) specifically interacts with endosomal/lysosomal membranes that contain the Niemann Pick C1 (NPC1) protein and expression of NPC1 is required for productive infection, suggesting that GP/NPC1 interactions may be an important late step in the entry process. "
4.	Neoplasms (Cancer) 10/01/2009 - "The tumor suppressor morphogen, Patched (Ptc), has an extensive homology to the Niemann-Pick-C 1 (NPC1) protein. " 11/01/2015 - "Using stable isotopic labeling by amino acids in cell culture and subcellular fractionation, the nuclear, cytosol, and mitochondria proteomes were analyzed by LC-MS/MS, identifying a number of proteins that exhibited altered expression in isogenic metastatic versus nonmetastatic cancer cell lines, including NADH-cytochrome b5 reductase 3 (CYB5R3), l-lactate dehydrogenase A (LDHA), Niemann-pick c1 protein (NPC1), and nucleolar RNA helicase 2 (NRH2). "
5.	Lipidoses 05/01/2001 - "In Niemann-Pick C1 (NPC1) protein-deficient lipidosis cells, the association of LDL-cholesterol with DRMs was enhanced and its transport to the plasma membrane was inhibited. " 03/01/2001 - "Niemann-Pick disease type C (NPC) is a neurovisceral lysosomal lipidosis caused in most cases by mutations in the NPC1 gene that codes for the cholesterol regulating NPC1 protein. "

Related Drugs and Biologics

1.	Cholesterol
2.	LDL Lipoproteins (beta Lipoproteins)
3.	Lipids
4.	3- beta- (2- (diethylamino)ethoxy)androst- 5- en- 17- one
5.	Proteome
6.	RNA Helicases (RNA Helicase)
7.	Sphingolipids
8.	Quinacrine (Mepacrine)
9.	Proteins (Proteins, Gene)
10.	Membrane Proteins (Integral Membrane Proteins)