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MGI:Npc1
Contents |
| Species (Taxon ID) | Mus musculus (house mouse) (taxon:10090) | |
| Gene Name(s) | Npc1 ( synonyms: C85354, D18Ertd139e, D18Ertd723e, lcsd, nmf164 ) | |
| Protein Name(s) | Niemann Pick type C1, | |
| External Links | ||
| MGI | MGI:1097712 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0005515 |
protein binding |
MGI:MGI:3640047 |
IPI: Inferred from Physical Interaction |
F |
From MGI |
|||
| GO:0005624 |
membrane fraction |
MGI:MGI:3706740 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005635 |
nuclear envelope |
MGI:MGI:4454599 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005635 |
nuclear envelope |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005764 |
lysosome |
MGI:MGI:3706740 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005768 |
endosome |
MGI:MGI:3640047 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005768 |
endosome |
MGI:MGI:3706740 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005783 |
endoplasmic reticulum |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005794 |
Golgi apparatus |
MGI:MGI:3706740 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005886 |
plasma membrane |
MGI:MGI:3706740 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005887 |
integral to plasma membrane |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0006897 |
endocytosis |
MGI:MGI:3045820 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1857409 |
P |
From MGI |
||
| GO:0006914 |
autophagy |
MGI:MGI:3833162 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0007628 |
adult walking behavior |
MGI:MGI:3833162 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:97180 |
P |
From MGI |
||
| GO:0016242 |
negative regulation of macroautophagy |
MGI:MGI:3723543 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1891828 |
P |
From MGI |
||
| GO:0016242 |
negative regulation of macroautophagy |
MGI:MGI:3723543 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1857409 |
P |
From MGI |
||
| GO:0031982 |
vesicle |
MGI:MGI:3706740 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0033344 |
cholesterol efflux |
MGI:MGI:3706212 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1857409 |
P |
From MGI |
||
| GO:0033344 |
cholesterol efflux |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0042493 |
response to drug |
MGI:MGI:3706740 |
IDA: Inferred from Direct Assay |
P |
From MGI |
|||
| GO:0042632 |
cholesterol homeostasis |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0045121 |
membrane raft |
MGI:MGI:3706740 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0046686 |
response to cadmium ion |
MGI:MGI:4417868 |
ISO: Inferred from Sequence Orthology |
NCBI:NP_705888 |
P |
From MGI |
||
| GO:0048471 |
perinuclear region of cytoplasm |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0071383 |
cellular response to steroid hormone stimulus |
MGI:MGI:3706740 |
IDA: Inferred from Direct Assay |
P |
From MGI |
|||
| GO:0071404 |
cellular response to low-density lipoprotein particle stimulus |
MGI:MGI:3706740 |
IDA: Inferred from Direct Assay |
P |
From MGI |
| ||
| edit table |
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 Ohsaki Y et al. (2006) Cholesterol depletion facilitates ubiquitylation of NPC1 and its association with SKD1/Vps4. J Cell Sci 119: 2643-53 PubMed GONUTS page
- ↑ 2.0 2.1 2.2 2.3 2.4 2.5 2.6 2.7 2.8 2.9 Garver WS et al. (2000) Localization of the murine Niemann-Pick C1 protein to two distinct intracellular compartments. J Lipid Res 41: 673-87 PubMed GONUTS page
- ↑ Kim CE et al. (2010) A molecular mechanism underlying the neural-specific defect in torsinA mutant mice. Proc Natl Acad Sci U S A 107: 9861-6 PubMed GONUTS page
- ↑ te Vruchte D et al. (2004) Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport. J Biol Chem 279: 26167-75 PubMed GONUTS page
- ↑ 5.0 5.1 Pacheco CD et al. (2009) Tau deletion exacerbates the phenotype of Niemann-Pick type C mice and implicates autophagy in pathogenesis. Hum Mol Genet 18: 956-65 PubMed GONUTS page
- ↑ 6.0 6.1 Pacheco CD et al. (2007) Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects. Hum Mol Genet 16: 1495-503 PubMed GONUTS page
- ↑ Wang MD et al. (2007) Different cellular traffic of LDL-cholesterol and acetylated LDL-cholesterol leads to distinct reverse cholesterol transport pathways. J Lipid Res 48: 633-45 PubMed GONUTS page
