NPC1

Name

NPC intracellular cholesterol transporter 1

Type

protein-coding

Position

23,506,184–23,586,969 (−)

Aliases

NPC, POGZ, SLC65A1

Ensembl

ENSG00000141458

RefSeq RNA

NM_000271.5, XM_005258277.1, XM_005258278.6, XM_005258279.3, XM_006722479.4

RefSeq protein

NP_000262.2, XP_005258334.1, XP_005258335.1, XP_005258336.1, XP_006722542.1

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].

via MyGene.info

Gene · Ensembl

NPC intracellular cholesterol transporter 1

Symbol

NPC1

Biotype

Protein coding

Organism

Homo sapiens

Location

18:23,506,184-23,586,969

Strand

Reverse (−)

Assembly

GRCh38

Wikidata facts

Image

Protein NPC1 PDB 3GKH.png

via Wikidata · CC0