1. Gene
  2. Npc1 - NPC intracellular cholesterol transporter 1 Gene

Npc1 - NPC intracellular cholesterol transporter 1 Gene

种属: Mus musculus

同用名: spm; lcsd; nmf164; D18Ertd139e; D18Ertd723e; A430089E03Rik

基因 ID: 18145 | 基因类型: protein coding

关于 Npc1

功能概要

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 基因产物(1)

mRNA Protein Name
NM_008720.2 NP_032746.2 NPC intracellular cholesterol transporter 1 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
16757520 MGI
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within adult walking behavior IGI
IGI: 通过遗传相互作用推断
19074461 MGI
acts upstream of or within cellular response to low-density lipoprotein particle stimulus IDA
IDA: 通过直接分析推断
10787428 MGI
acts upstream of or within cellular response to steroid hormone stimulus IDA
IDA: 通过直接分析推断
10787428 MGI
acts upstream of or within cholesterol efflux IMP
IMP: 通过突变表型推断
17148552 MGI
involved in cholesterol homeostasis IMP
IMP: 通过突变表型推断
21896731 MGI
acts upstream of or within cholesterol storage IMP
IMP: 通过突变表型推断
21697390 MGI
acts upstream of or within cholesterol transport IMP
IMP: 通过突变表型推断
21697390 MGI
acts upstream of or within cyclodextrin metabolic process IMP
IMP: 通过突变表型推断
21697390 MGI
acts upstream of or within endocytosis IMP
IMP: 通过突变表型推断
15078881 MGI
acts upstream of or within establishment of localization in cell IMP
IMP: 通过突变表型推断
17148552 MGI
acts upstream of or within gene expression IMP
IMP: 通过突变表型推断
21289032 MGI
involved in gene expression IMP
IMP: 通过突变表型推断
29463856 MGI
acts upstream of or within liver development IMP
IMP: 通过突变表型推断
21289032 MGI
acts upstream of macroautophagy IGI
IGI: 通过遗传相互作用推断
17468177 MGI
acts upstream of macroautophagy IMP
IMP: 通过突变表型推断
17468177 MGI
acts upstream of or within negative regulation of macroautophagy IGI
IGI: 通过遗传相互作用推断
17468177 MGI
acts upstream of or within negative regulation of macroautophagy IMP
IMP: 通过突变表型推断
17468177 MGI
acts upstream of or within neurogenesis IMP
IMP: 通过突变表型推断
21697390 MGI
acts upstream of or within programmed cell death IMP
IMP: 通过突变表型推断
21697390 MGI
involved in protein glycosylation IDA
IDA: 通过直接分析推断
22065762 MGI
acts upstream of or within response to xenobiotic stimulus IDA
IDA: 通过直接分析推断
10787428 MGI
acts upstream of or within sterol metabolic process IMP
IMP: 通过突变表型推断
21289032 MGI
acts upstream of or within sterol transport IMP
IMP: 通过突变表型推断
21289032 MGI
involved in symbiont entry into host cell IMP
IMP: 通过突变表型推断
21866101 MGI
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
10787428 MGI
located in endosome IDA
IDA: 通过直接分析推断
10787428 MGI
located in extracellular region IDA
IDA: 通过直接分析推断
22065762 MGI
is active in lysosome IDA
IDA: 通过直接分析推断
21289032 MGI
located in lysosome IDA
IDA: 通过直接分析推断
10787428 MGI
located in membrane IDA
IDA: 通过直接分析推断
10787428 MGI
located in membrane raft IDA
IDA: 通过直接分析推断
10787428 MGI
located in nuclear envelope IDA
IDA: 通过直接分析推断
20457914 MGI
located in plasma membrane IDA
IDA: 通过直接分析推断
10787428 MGI
located in vesicle IDA
IDA: 通过直接分析推断
10787428 MGI
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断
蛋白主名 其他名称

NPC intracellular cholesterol transporter 1

Niemann-Pick type C1

niemann-Pick C1 protein

sphingomyelinosis

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Npc1 NCBI NCBI:4864