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HUMAN:NPC1
Contents |
| Species (Taxon ID) | Homo sapiens (Human). ([1]) | |
| Gene Name(s) | NPC1 | |
| Protein Name(s) | Niemann-Pick C1 protein | |
| External Links | ||
| EMBL | AF002020 AF157379 AF157365 AF157366 AF157367 AF157368 AF157369 AF157370 AF157371 AF157372 AF157373 AF157374 AF157375 AF157376 AF157377 AF157378 AF338230 AF123046 AF123045 BC063302 | |
| IPI | IPI00005107 | |
| RefSeq | NP_000262.2 | |
| UniGene | Hs.464779 Hs.715623 | |
| PDB | 3GKH 3GKI 3GKJ | |
| PDBsum | 3GKH 3GKI 3GKJ | |
| ProteinModelPortal | O15118 | |
| SMR | O15118 | |
| STRING | O15118 | |
| TCDB | 2.A.6.6.1 | |
| PeptideAtlas | O15118 | |
| PRIDE | O15118 | |
| Ensembl | ENST00000269228 | |
| GeneID | 4864 | |
| KEGG | hsa:4864 | |
| NMPDR | fig|9606.3.peg.14865 | |
| UCSC | uc002kum.2 | |
| CTD | 4864 | |
| GeneCards | GC18M017967 | |
| HGNC | HGNC:7897 | |
| HPA | HPA026618 | |
| MIM | 257220 607623 | |
| neXtProt | NX_O15118 | |
| Orphanet | 216986 216981 216978 216975 216972 | |
| PharmGKB | PA31698 | |
| eggNOG | prNOG12327 | |
| HOVERGEN | HBG003913 | |
| InParanoid | O15118 | |
| OMA | RFLPMFL | |
| OrthoDB | EOG46DM1Z | |
| PhylomeDB | O15118 | |
| NextBio | 18738 | |
| ArrayExpress | O15118 | |
| Bgee | O15118 | |
| CleanEx | HS_NPC1 | |
| Genevestigator | O15118 | |
| GermOnline | ENSG00000141458 | |
| GO | GO:0005783 GO:0005887 GO:0031902 GO:0005765 GO:0005635 GO:0048471 GO:0008158 GO:0005515 GO:0015248 GO:0006914 GO:0008206 GO:0033344 GO:0042632 GO:0007041 | |
| InterPro | IPR004765 IPR003392 IPR000731 | |
| Pfam | PF02460 | |
| TIGRFAMs | TIGR00917 | |
| PROSITE | PS50156 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0004872 |
receptor activity |
TAS: Traceable Author Statement |
|
F |
Seeded From UniProt |
|||
| GO:0004888 |
transmembrane signaling receptor activity |
TAS: Traceable Author Statement |
|
F |
Seeded From UniProt |
|||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
Seeded From UniProt |
||||
| GO:0005635 |
nuclear envelope |
IDA: Inferred from Direct Assay |
|
C |
Seeded From UniProt |
|||
| GO:0005764 |
lysosome |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0005764 |
lysosome |
TAS: Traceable Author Statement |
|
C |
Seeded From UniProt |
|||
| GO:0005765 |
lysosomal membrane |
IEA: Inferred from Electronic Annotation |
SP_SL:SL-0157 |
C |
Seeded From UniProt |
|||
| GO:0005768 |
endosome |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0005783 |
endoplasmic reticulum |
IDA: Inferred from Direct Assay |
|
C |
Seeded From UniProt |
|||
| GO:0005887 |
integral to plasma membrane |
IDA: Inferred from Direct Assay |
|
C |
Seeded From UniProt |
|||
| GO:0006914 |
autophagy |
IGI: Inferred from Genetic Interaction |
P |
Seeded From UniProt |
||||
| GO:0007041 |
lysosomal transport |
ISS: Inferred from Sequence or Structural Similarity |
P |
Seeded From UniProt |
||||
| GO:0008158 |
hedgehog receptor activity |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0008206 |
bile acid metabolic process |
ISS: Inferred from Sequence or Structural Similarity |
P |
Seeded From UniProt |
||||
| GO:0015248 |
sterol transporter activity |
TAS: Traceable Author Statement |
|
F |
Seeded From UniProt |
|||
| GO:0015918 |
sterol transport |
TAS: Traceable Author Statement |
|
P |
Seeded From UniProt |
|||
| GO:0016020 |
membrane |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0016020 |
membrane |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0016021 |
integral to membrane |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0016021 |
integral to membrane |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0016021 |
integral to membrane |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0016021 |
integral to membrane |
TAS: Traceable Author Statement |
|
C |
Seeded From UniProt |
|||
| GO:0030301 |
cholesterol transport |
IEA: Inferred from Electronic Annotation |
P |
Seeded From UniProt |
||||
| GO:0031902 |
late endosome membrane |
IEA: Inferred from Electronic Annotation |
SP_SL:SL-0151 |
C |
Seeded From UniProt |
|||
| GO:0033344 |
cholesterol efflux |
IDA: Inferred from Direct Assay |
|
P |
Seeded From UniProt |
|||
| GO:0042632 |
cholesterol homeostasis |
ISS: Inferred from Sequence or Structural Similarity |
P |
Seeded From UniProt |
||||
| GO:0042632 |
cholesterol homeostasis |
IDA: Inferred from Direct Assay |
|
P |
Seeded From UniProt |
|||
| GO:0048471 |
perinuclear region of cytoplasm |
IDA: Inferred from Direct Assay |
|
C |
Seeded From UniProt |
|||
| GO:0046718 |
entry of virus into host cell |
IMP: Inferred from Mutant Phenotype |
P |
Fig. 4D |
complete | |||
| GO:2000189 |
positive regulation of cholesterol homeostasis |
IMP: Inferred from Mutant Phenotype |
P |
Fig 1,2 and Table 1 shows NPC-1's role in correcting the over accumulation of choloesterol in lysosomes versus the defective mutant |
complete | |||
| GO:0046718 |
entry of virus into host cell |
IMP: Inferred from Mutant Phenotype |
P |
Fig. 2B (infection) and 2C/2D (virus entry into cell) |
complete | |||
| edit table |
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ Carstea ED et al. (1997) Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science 277: 228-31 PubMed GONUTS page
- ↑ 2.0 2.1 Greer WL et al. (1999) Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. Am J Hum Genet 65: 1252-60 PubMed GONUTS page
- ↑ 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
- ↑ 4.0 4.1 4.2 Blom TS et al. (2003) Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease. Hum Mol Genet 12: 257-72 PubMed GONUTS page
- ↑ 5.0 5.1 5.2 5.3 Watari H et al. (1999) Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization. Proc Natl Acad Sci U S A 96: 805-10 PubMed GONUTS page
- ↑ Davies JP & Ioannou YA (2000) Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein. J Biol Chem 275: 24367-74 PubMed GONUTS page
- ↑ 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
- ↑ Rigamonti E et al. (2005) Liver X receptor activation controls intracellular cholesterol trafficking and esterification in human macrophages. Circ Res 97: 682-9 PubMed GONUTS page
- ↑ Frolov A et al. (2003) NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols. J Biol Chem 278: 25517-25 PubMed GONUTS page
- ↑ Carette JE et al. (2011) Ebola virus entry requires the cholesterol transporter Niemann-Pick C1. Nature 477: 340-3 PubMed GONUTS page
- ↑ Côté M et al. (2011) Small molecule inhibitors reveal Niemann-Pick C1 is essential for Ebola virus infection. Nature 477: 344-8 PubMed GONUTS page
