Niemann-Pick Disease, Type C1 Protéines (NPC1)

NPC1 encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. De plus, nous expédions NPC1 Anticorps (84) et NPC1 Kits (6) et beaucoup plus de produits pour cette protéine.

afficher tous les protéines Gène GeneID UniProt
NPC1 18145 O35604
NPC1 4864 O15118
Rat NPC1 NPC1 266732  
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Top NPC1 Protéines sur anticorps-enligne.fr

Showing 6 out of 10 products:

Catalogue No. Origin Source Conjugué Images Quantité Fournisseur Livraison Prix Détails
Escherichia coli (E. coli) Humain His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Connectez-vous pour afficher 30 to 35 Days
$5,370.21
Détails
Escherichia coli (E. coli) Souris His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Connectez-vous pour afficher 30 to 35 Days
$5,370.21
Détails
Cellules d'insectes Humain His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Connectez-vous pour afficher 50 Days
$6,749.58
Détails
Cellules d'insectes Souris His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Connectez-vous pour afficher 50 Days
$6,749.58
Détails
Human Cells Humain DYKDDDDK Tag,His tag SDS-PAGE 100 μg Connectez-vous pour afficher 14 to 16 Days
$437.80
Détails
Wheat germ Humain GST tag 10 μg Connectez-vous pour afficher 11 to 12 Days
$414.29
Détails

NPC1 Protéines protéines par origine et source

Origin Exprimée danse Conjugué
Mouse (Murine) ,
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Human , , ,
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Plus protéines pour Niemann-Pick Disease, Type C1 (NPC1) partenaires d'interaction

Zebrafish Niemann-Pick Disease, Type C1 (NPC1) interaction partners

  1. this is the first report, showing a role of NPC1 in platelet function and formation but further studies are needed to define how cholesterol storage interferes with these processes

  2. npc1 is required early for proper cell movement and cholesterol localization and later for cell survival

Rabbit Niemann-Pick Disease, Type C1 (NPC1) interaction partners

  1. Availability of assays to measure NPC1 binding to membrne proteins may further the understanding of ways in which oxysterols regulate intracellular lipid transport.

Human Niemann-Pick Disease, Type C1 (NPC1) interaction partners

  1. These data support the hypothesis that cholesterol is transported through interactions between two or more NPC1 molecules.

  2. Mutation in the NPC1 gene is associated with Niemann-Pick type C.

  3. pronounced alterations in several proteins linked to autophagy and lysosomal catabolism reflecting vesicular transport obstruction and defective lysosomal turnover resulting from NPC1 deficiency, were observed.

  4. Niemann-Pick C1 (NPC1) protein structures suggest mapping of all of the disease-causing mutations for future molecular insights into the pathogenesis of Niemann-Pick type C disease (NPC) disease.

  5. This study demonistrated that heterozygous mutations of NPC1 genes could contribute to dementia plus, at least in a subset of patients.

  6. Docking of the NPC1-NPC2 complex onto the full-length NPC1 structure reveals a direct cholesterol transfer tunnel between NPC2 and N-terminal domain cholesterol binding pockets, supporting the "hydrophobic hand-off" cholesterol transfer model.

  7. Taken together, these studies suggest that Ebola virus requires phosphatidylinositol (3,5) bisphosphate production in cells to promote efficient delivery to NPC1.

  8. identification of NPC1 and/or NPC2 mutations combined with descriptions of clinical phenotype, will improve our knowledge of pathogenic mutations and our understanding of genotype-phenotype correlations.

  9. Here we report a crystal structure of a large fragment of human NPC1 at 3.6 A resolution, which reveals internal twofold pseudosymmetry along TM 2-13 and two structurally homologous domains that protrude 60 A into the endosomal lumen, and we propose a model for NPC1 function in cholesterol sensing and transport.

  10. Sequencing of genomic DNA from GM03123 Led to the identification of a mutation in NPC1 GENE, g.41940G>C (c.1947 + 5G>C; rs770321568) (Fig. 1A), with a minor allele frequency of 0.0000082

  11. this case provides support for the V950M variant being sufficient for adult-onset Niemann-Pick type C disease.

  12. We identified major events in NPC1 evolution and revealed and compared orthologs and paralogs of the human NPC1 gene through phylogenetic and protein sequence analyses. We predicted whether an amino acid substitution affects protein function by reducing the organism's fitness.

  13. The mutant NPC1 did not significantly reduce cholesterol accumulation, but approximately 85% of the mutants showed reduced cholesterol accumulation when treated with vorinostat or panobinostat.

  14. knockdown of TMEM97 also increases levels of residual NPC1 in NPC1-mutant patient fibroblasts and reduces cholesterol storage in an NPC1-dependent manner. Our findings propose TMEM97 inhibition as a novel strategy to increase residual NPC1 levels in cells and a potential therapeutic target for Niemann-Pick type C disease (NP-C).

  15. The splicing mutation IVS23 + 3insT was associated in homozygocity with a severe biochemical and clinical phenotype. A possible founder effect for this mutation was demonstrated in the Greek Island, as well as a different origin for each novel mutation

  16. Rare loss-of-function NPC1 mutations were identified as being associated with human adiposity with a high penetrance in a Chinese population.

  17. Furthermore saturation and intracellular distribution of alpha-Toc seem to be strongly dependent on the availability of this vitamin as well as on the presence of the lysosomal protein NPC1

  18. Two mutations were identified in the NPC1 gene, one of which was novel and its pathogenetic nature was unknown

  19. Our data suggest an incidence rate for NPC1 and NPC2 of 1/92,104 and 1/2,858,998, respectively. Evaluation of common NPC1 variants, however, suggests that there may be a late-onset NPC1 phenotype with a markedly higher incidence.

  20. Fibroblasts from Niemann-Pick type C (NPC) disease patients with low levels of NPC1 protein have high amounts of procathepsin D but reduced quantities of the mature protein, thus showing a diminished cathepsin D activity.

Profil protéine NPC1

Profil protéine

This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.

Gene names and symbols associated with NPC1

  • NPC intracellular cholesterol transporter 1 (NPC1)
  • Niemann-Pick disease, type C1 (npc1)
  • Niemann-Pick C1 protein (LOC579887)
  • NPC intracellular cholesterol transporter 1 (Npc1)
  • A430089E03Rik Protéine
  • C85354 Protéine
  • Cdig2 Protéine
  • D18Ertd139e Protéine
  • D18Ertd723e Protéine
  • im:7149020 Protéine
  • lcsd Protéine
  • nmf164 Protéine
  • NPC Protéine
  • spm Protéine
  • wu:fb53a12 Protéine
  • wu:fc29a12 Protéine

Protein level used designations for NPC1

Niemann-Pick C1 protein , Niemann-Pick type C1 disease protein , Nasopharyngeal carcinoma 1 , Niemann-Pick C1 , Niemann-Pick disease, type C1 , sphingomyelinosis , Niemann-Pick C disease protein

GENE ID SPECIES
403698 Canis lupus familiaris
455338 Pan troglodytes
493693 Felis catus
553330 Danio rerio
579887 Strongylocentrotus purpuratus
100008746 Oryctolagus cuniculus
18145 Mus musculus
4864 Homo sapiens
397591 Sus scrofa
421076 Gallus gallus
266732 Rattus norvegicus
100718604 Cavia porcellus
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