Rabbit anti-Human Niemann Pick C1 Monoclonal Antibody

Uniprot Id

O15118

Target Species

Human

Target Name

NPC1

Target Full Name

NPC intracellular cholesterol transporter 1

Target 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. 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. Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket. 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.

Target Involvement

Niemann-Pick disease C1 (NPC1)

Target Subcellular Location

Late endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein.

Target Protein Families

Patched family

Target Research Area

Cardiovascular, Transcription

Target Synonyms

Niemann Pick C1 protein precursor; Niemann Pick disease, type C1; Niemann-Pick C1 protein; NPC; NPC1; NPC1_HUMAN

Target 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.