Niemann-Pick Disease, Type C1 Proteine (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. Zusätzlich bieten wir Ihnen NPC1 Antikörper (84) und NPC1 Kits (6) und viele weitere Produktgruppen zu diesem Protein an.

alle Proteine anzeigen Gen GeneID UniProt
NPC1 18145 O35604
NPC1 4864 O15118
Ratte NPC1 NPC1 266732  
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Top NPC1 Proteine auf antikoerper-online.de

Showing 6 out of 10 products:

Katalog Nr. Origin Quelle Konjugat Bilder Menge Anbieter Lieferzeit Preis Details
Escherichia coli (E. coli) Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 30 bis 35 Tage
$5,370.21
Details
Escherichia coli (E. coli) Maus His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 30 bis 35 Tage
$5,370.21
Details
Insektenzellen Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 50 Days
$6,749.58
Details
Insektenzellen Maus His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 50 Days
$6,749.58
Details
Human Cells Human DYKDDDDK Tag,His tag SDS-PAGE 100 μg Anmelden zum Anzeigen 14 bis 16 Tage
$437.80
Details
Wheat germ Human GST tag 10 μg Anmelden zum Anzeigen 11 bis 12 Tage
$414.29
Details

NPC1 Proteine nach Spezies und Herkunft

Origin Exprimiert in Konjugat
Mouse (Murine) ,
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Human , , ,
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Weitere Proteine zu Niemann-Pick Disease, Type C1 (NPC1) Interaktionspartnern

Zebrafish Niemann-Pick Disease, Type C1 (NPC1) Interaktionspartner

  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) Interaktionspartner

  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) Interaktionspartner

  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.

NPC1 Protein Überblick

Protein Überblick

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.

Genbezeichner und Symbole assoziert mit 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 Protein
  • C85354 Protein
  • Cdig2 Protein
  • D18Ertd139e Protein
  • D18Ertd723e Protein
  • im:7149020 Protein
  • lcsd Protein
  • nmf164 Protein
  • NPC Protein
  • spm Protein
  • wu:fb53a12 Protein
  • wu:fc29a12 Protein

Bezeichner auf Proteinebene für 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 SPEZIES
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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