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
External IDs	OMIM: 607623 MGI: 1097712 HomoloGene: 228 GeneCards: NPC1
Gene ontology Molecular function • virus receptor activity • lipid transporter activity • sterol transporter activity • cholesterol binding • protein binding • transmembrane signaling receptor activity • 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 Biological process • cellular response to steroid hormone stimulus • steroid metabolic process • response to cadmium ion • endocytosis • negative regulation of macroautophagy • lipid metabolic process • 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 • positive regulation of cholesterol homeostasis • protein glycosylation • membrane raft organization • cholesterol efflux • lysosomal transport • viral entry into host cell • cholesterol homeostasis • viral process • response to drug • adult walking behavior • signal transduction • low-density lipoprotein particle clearance • lipid transport Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4864	18145
Ensembl	ENSG00000141458	ENSMUSG00000024413
UniProt	O15118	O35604
RefSeq (mRNA)	NM_000271	NM_008720
RefSeq (protein)	NP_000262	NP_032746.2 NP_032746
Location (UCSC)	Chr 18: 23.51 – 23.59 Mb	Chr 18: 12.19 – 12.24 Mb
PubMed search

3GKH, 3GKI, 3GKJ, 5F1B, 5F18, 5HNS, 3JD8, 5I31, 5JNX

4864

18145

ENSG00000141458

ENSMUSG00000024413

O15118

O35604

NM_000271

NM_008720

NP_000262

NP_032746.2
NP_032746

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

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