Npc1 - NPC intracellular cholesterol transporter 1 Gene

Mus musculus

Also known as spm; lcsd; nmf164; D18Ertd139e; D18Ertd723e; A430089E03Rik

Gene ID: 18145 | Gene type: protein coding

About Npc1

Summary

Predicted to enable Cholesterol binding activity. Involved in several processes, including Cholesterol homeostasis; protein glycosylation; and viral entry into host cell. Acts upstream of or within several processes, including adult walking behavior; cellular response to low-density lipoprotein particle stimulus; and Cholesterol efflux. Located in several cellular components, including Golgi apparatus; membrane raft; and nuclear envelope. Is expressed in several structures, including genitourinary system; liver; lung; spleen; and stomach. Used to study Niemann-Pick disease and Niemann-Pick disease type C1. Human ortholog(s) of this gene implicated in Niemann-Pick disease type C1. Orthologous to human NPC1 (NPC intracellular Cholesterol transporter 1). [provided by Alliance of Genome Resources, Apr 2022]

Npc1 Products(1)

mRNA	Protein	Name
NM_008720.2	NP_032746.2	NPC intracellular cholesterol transporter 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16757520	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within adult walking behavior	IGI IGI: Inferred from genetic interaction	19074461	MGI
acts upstream of or within cellular response to low-density lipoprotein particle stimulus	IDA IDA: Inferred from direct assay	10787428	MGI
acts upstream of or within cellular response to steroid hormone stimulus	IDA IDA: Inferred from direct assay	10787428	MGI
acts upstream of or within cholesterol efflux	IMP IMP: Inferred from mutant phenotype	17148552	MGI
involved in cholesterol homeostasis	IMP IMP: Inferred from mutant phenotype	21896731	MGI
acts upstream of or within cholesterol storage	IMP IMP: Inferred from mutant phenotype	21697390	MGI
acts upstream of or within cholesterol transport	IMP IMP: Inferred from mutant phenotype	21697390	MGI
acts upstream of or within cyclodextrin metabolic process	IMP IMP: Inferred from mutant phenotype	21697390	MGI
acts upstream of or within endocytosis	IMP IMP: Inferred from mutant phenotype	15078881	MGI
acts upstream of or within establishment of localization in cell	IMP IMP: Inferred from mutant phenotype	17148552	MGI
acts upstream of or within gene expression	IMP IMP: Inferred from mutant phenotype	21289032	MGI
involved in gene expression	IMP IMP: Inferred from mutant phenotype	29463856	MGI
acts upstream of or within liver development	IMP IMP: Inferred from mutant phenotype	21289032	MGI
acts upstream of macroautophagy	IGI IGI: Inferred from genetic interaction	17468177	MGI
acts upstream of macroautophagy	IMP IMP: Inferred from mutant phenotype	17468177	MGI
acts upstream of or within negative regulation of macroautophagy	IGI IGI: Inferred from genetic interaction	17468177	MGI
acts upstream of or within negative regulation of macroautophagy	IMP IMP: Inferred from mutant phenotype	17468177	MGI
acts upstream of or within neurogenesis	IMP IMP: Inferred from mutant phenotype	21697390	MGI
acts upstream of or within programmed cell death	IMP IMP: Inferred from mutant phenotype	21697390	MGI
involved in protein glycosylation	IDA IDA: Inferred from direct assay	22065762	MGI
acts upstream of or within response to xenobiotic stimulus	IDA IDA: Inferred from direct assay	10787428	MGI
acts upstream of or within sterol metabolic process	IMP IMP: Inferred from mutant phenotype	21289032	MGI
acts upstream of or within sterol transport	IMP IMP: Inferred from mutant phenotype	21289032	MGI
involved in symbiont entry into host cell	IMP IMP: Inferred from mutant phenotype	21866101	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	10787428	MGI
located in endosome	IDA IDA: Inferred from direct assay	10787428	MGI
located in extracellular region	IDA IDA: Inferred from direct assay	22065762	MGI
is active in lysosome	IDA IDA: Inferred from direct assay	21289032	MGI
located in lysosome	IDA IDA: Inferred from direct assay	10787428	MGI
located in membrane	IDA IDA: Inferred from direct assay	10787428	MGI
located in membrane raft	IDA IDA: Inferred from direct assay	10787428	MGI
located in nuclear envelope	IDA IDA: Inferred from direct assay	20457914	MGI
located in plasma membrane	IDA IDA: Inferred from direct assay	10787428	MGI
located in vesicle	IDA IDA: Inferred from direct assay	10787428	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

NPC intracellular cholesterol transporter 1

Niemann-Pick type C1	niemann-Pick C1 protein
sphingomyelinosis

Related Agents

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-17376	Ezetimibe		99.72%	Yes

Clinical Phase

Inhibitory Antibodies (2)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P99544	Tagitanlimab	Inhibitor	≥99.0%	Phase 3
HY-P99362	Ensituximab	Inhibitor	99.93%	Phase 2

Pre-clinical Phase

Bioactive Molecules (20)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-133114	Ezetimibe ketone	Activator	99.97%	Unkown
HY-17640	Nicodicosapent	Inhibitor	99.79%	Unkown
HY-W395779	EBOV-IN-1		98.55%	Unkown
HY-17376S	Ezetimibe-d4		98.84%	Unkown
HY-17376S1	Ezetimibe-d4-1		99.26%	Unkown
HY-113845	(+)-Intermedine		≥99.0%	Unkown
HY-RS09474	NPC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-17376R	Ezetimibe (Standard)		99.90%	Unkown
HY-135388	ent-Ezetimibe		/	Unkown
HY-136059	Desfluoro-ezetimibe	Activator	/	Unkown
HY-160880	EBOV-IN-5	Inhibitor	/	Unkown
HY-160882	EBOV-IN-7		/	Unkown
HY-160883	EBOV-IN-8	Inhibitor	/	Unkown
HY-RS09475	NPC1L1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-121315	BRD4097	Inhibitor	/	Unkown
HY-157161	11β-HSD2-IN-1	Inhibitor	/	Unkown
HY-RS16778	Npc1 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS17515	Npc1l1 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS23218	Npc1 Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS23972	Npc1l1 Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Npc1	NCBI	NCBI:4864

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