Rabbit Niemann Pick C1 Polyclonal Antibody | anti-NPC1 antibody

Niemann Pick C1 Antibody

Cat. Num. AAA9612211

• Gene Names: NPC1; NPC; POGZ; SLC65A1
• Reactivity: Human, Mouse, Rat; Predicted Reactivity: Pig(86%), Horse(100%), Rabbit(100%), Dog(100%)
• Applications: ELISA
• Purity: The antiserum was purified by peptide affinity chromatography using SulfoLink Coupling Resin (Thermo Fisher Scientific).
• Synonyms: Niemann Pick C1; Polyclonal Antibody; Niemann Pick C1 Antibody; Niemann Pick C1 protein precursor; Niemann Pick disease; type C1; Niemann-Pick C1 protein; NPC; NPC1; NPC1_HUMAN; anti-NPC1 antibody

• Host: Rabbit
• Reactivity: Human, Mouse, Rat; Predicted Reactivity: Pig(86%), Horse(100%), Rabbit(100%), Dog(100%)
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Niemann Pick C1 Antibody detects endogenous levels of total Niemann Pick C1.
• Purity/Purification: The antiserum was purified by peptide affinity chromatography using SulfoLink Coupling Resin (Thermo Fisher Scientific).
• Form/Format: Liquid. Rabbit IgG in phosphate buffered saline, pH7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol
• Concentration: 1mg/ml (varies by lot)
• Sequence Length: 1278

• Applicable Applications for anti-NPC1 antibody: ELISA (EIA)
• Application Notes: WB: 1:500-1:2000; ELISA(peptide): 1:20,000-1:40,000
• Immunogen: A synthesized peptide derived from human Niemann Pick C1, corresponding to a region within N-terminal amino acids.
• Fragment: Fab fragment
• Preparation and Storage: Store at -20 degree C. Stable for 12 months from date of receipt.

Western Blot (WB)

(Western blot analysis of extracts from HepG2 cells, using Niemann Pick C1 Antibody. The lane on the left was treated with blocking peptide.)

Related Product Information for anti-NPC1 antibody

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.

Post Translational Modifications: N-glycosylated.

Subcellular Location: Late endosome membrane>Multi-pass membrane protein. Lysosome membrane>Multi-pass membrane protein.

Subunit Structure: Interacts (via the second lumenal domain) with NPC2 (PubMed:18772377, PubMed:27238017, PubMed:27551080). Interacts with TMEM97 (PubMed:19583955). Interacts with TIM1 (PubMed:25855742).(Microbial infection) Interacts with ebolavirus glycoprotein.

Similarity: A cysteine-rich N-terminal domain and a C-terminal domain containing a di-leucine motif necessary for lysosomal targeting are critical for mobilization of cholesterol from lysosomes.Belongs to the patched family.

NCBI and Uniprot Product Information

• NCBI GI #: 83305902
• NCBI GeneID: 4864
• UniProt Accession #: O15118
• Molecular Weight: Observed Molecular Weight: (Observed)142kD.; Predicted Molecular Weight: (Calculated)142kDa.
• NCBI Official Full Name: NPC intracellular cholesterol transporter 1
• NCBI Official Synonym Full Names: NPC intracellular cholesterol transporter 1
• NCBI Official Symbol: NPC1
• NCBI Official Synonym Symbols: NPC; POGZ; SLC65A1
• NCBI Protein Information: NPC intracellular cholesterol transporter 1
• UniProt Protein Name: Niemann-Pick C1 protein
• Protein Family: Niemann-Pick C1 protein
• UniProt Gene Name: NPC1
• UniProt Entry Name: NPC1_HUMAN

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