Gene Name	NPC1
Gene ID	4864
Gene Full Name	NPC intracellular cholesterol transporter 1
Gene Alias	NPC|POGZ|SLC65A1
Transcripts	ENSG00000141458
Virus	EBOV
Gene Type	protein-coding
HPA Location Info
Membrane Info	Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
Uniport_ID	O15118
HGNC ID	HGNC:7897
OMIM ID	607623
Summary	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]

Mutation Table: if previous studies reported that target gene was related to virus gene/region/protein, the information in this literature was listed in this section

ID	PMID	Mutation	Gene/Protein/Region	Encoding Gene/Protein	Disease	Description	Detail
1	40186866	A82V	GP	GP	Cell line	T	View
2	33593971	A82V	GP	GP	Cell line	D G R T	View
3	28084671	A82V	GP	GP	Cell line	G S T	View
4	31289183	R64A	GP	GP	Cell line	D G R T	View
5	28238624	A82V	GP	GP	Cell line	G R T	View
6	27814506	A82V	GP	GP	Cell line	G R T	View
7	33593971	T544I	GP	GP	Cell line	D G R T	View
8	27512112	S142Q	GP	GP		T	View
9	27512112	T419I	GP	GP		T	View

Data ID	Experiment type	Sample number	Platform
GSE96590	RNA-seq	20	Illumina HiSeq 1000 (Homo sapiens)
GSE80131	RNA-seq	6	Illumina HiSeq 2500 (Homo sapiens)