Npc1 - NPC intracellular cholesterol transporter 1 Gene

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

Species: Mus musculus

Gene Type: protein coding
Gene ID: 18145

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 References Source
enables protein binding IPI
IPI: Inferred from physical interaction
16757520 MGI
Biological Process GO Annotation Evidence References 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 References 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
  • Clinical Phase
  • Pre-clinical Phase

Approval

Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-17376 Ezetimibe 99.95% 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 (23)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-110028 Leelamine hydrochloride 98.10% Unkown
HY-17376S Ezetimibe-d4 98.84% Unkown
HY-RS09474 NPC1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-W395779 EBOV-IN-1 98.66% Unkown
HY-136059 Desfluoro-ezetimibe Activator 99.54% Unkown
HY-17376R Ezetimibe (Standard) 99.90% Unkown
HY-17640 Nicodicosapent Inhibitor 99.79% Unkown
HY-113845 (+)-Intermedine 99.0% Unkown
HY-17376S1 Ezetimibe-d4-1 99.26% Unkown
HY-135388 ent-Ezetimibe / Unkown
HY-160880 EBOV-IN-5 Inhibitor / Unkown
HY-160882 EBOV-IN-7 / Unkown
HY-160883 EBOV-IN-8 Inhibitor / Unkown
HY-17376S3 Ezetimibe-13C6 / Unkown
HY-182938 Autophagy activator-2 Activator / Unkown
HY-N18304 Brutieridin Inhibitor / Unkown
HY-RS09475 NPC1L1 Human Pre-designed siRNA Set A Pre-designed Set / 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 Set / Unkown
HY-RS17515 Npc1l1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS23218 Npc1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS23972 Npc1l1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Npc1 NCBI NCBI:4864