NPC1

NPC1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3GKH, 3GKI, 3GKJ, 5F1B, 5F18, 5HNS, 3JD8, 5I31, 5JNX
Identifiers
Aliases	NPC1, NPC, NPC intracellular cholesterol transporter 1, SLC65A1, POGZ
External IDs	OMIM: 607623 MGI: 1097712 HomoloGene: 228 GeneCards: NPC1
Gene location (Human)
Chr.	Chromosome 18 (human)
End	23,586,506 bp
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)
End	12,369,457 bp
RNA expression pattern
	Top expressed in
	secondary oocyte; ; middle frontal gyrus; ; corpus callosum; ; inferior ganglion of vagus nerve; ; parotid gland; ; internal globus pallidus; ; upper lobe of left lung; ; inferior olivary nucleus; ; minor salivary gland; ; right lung;
	Top expressed in
	secondary oocyte; ; interventricular septum; ; hair follicle; ; saccule; ; yolk sac; ; sciatic nerve; ; lip; ; adrenal gland; ; right lung lobe; ; left lobe of liver;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	virus receptor activity; lipid transporter activity; sterol transporter activity; cholesterol binding; protein binding; transmembrane signaling receptor activity; signaling receptor activity;
Cellular component	integral component of membrane; vesicle; endosome; Golgi apparatus; nuclear envelope; membrane; late endosome membrane; plasma membrane; integral component of plasma membrane; extracellular region; endoplasmic reticulum; perinuclear region of cytoplasm; membrane raft; lysosome; extracellular exosome; lysosomal membrane; integral component of lysosomal membrane;
Biological process	cellular response to steroid hormone stimulus; steroid metabolic process; response to cadmium ion; endocytosis; negative regulation of macroautophagy; lipid metabolism; bile acid metabolic process; cholesterol transport; establishment of protein localization to membrane; cellular response to low-density lipoprotein particle stimulus; cholesterol metabolic process; negative regulation of cell death; autophagy; protein glycosylation; membrane raft organization; cholesterol efflux; lysosomal transport; viral entry into host cell; cholesterol homeostasis; viral process; adult walking behavior; signal transduction; low-density lipoprotein particle clearance; intracellular cholesterol transport; lipid transport;
	Sources:Amigo / QuickGO
Orthologs
	4864
	18145
	ENSG00000141458
	ENSMUSG00000024413
	O15118
	O35604
	NM_000271
	NM_008720
	NP_000262
	NP_032746
	Wikidata
View/Edit Human	View/Edit Mouse

Niemann-Pick disease, type C1 (NPC1) is a membrane protein that mediates intracellular cholesterol trafficking in mammals. In humans the protein is encoded by the NPC1 gene (chromosome location 18q11).

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