NPC1

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]

Description

NPC intracellular cholesterol transporter 1

Tissue specificity

Tissue enhanced (brain)

Subcell location

Nucleoplasm, Vesicles

Predicted location

Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

18 (23506184 - 23586506)

Ensembl ID

ENSG00000141458  (ver. 103.38)

Orthologs

Mouse Npc1: ENSMUSG00000024413

UniProt

O15118

neXtProt

NX_O15118

Human splice variants
Mouse splice variants

Protein structure