Recombinant Human Epididymal secretory protein E1 (NPC2)

1. Results propose that, depending on the location of the cholesterol ligand, a dynamical interface between the NPC2 and NPC1 N-terminal domain (NTD) proteins exists. Structural features of a particular interface can lower the energy barrier and stabilize the passage of the cholesterol substrate from NPC2 to NPC1(NTD). PMID: 30181526
2. Our study demonstrated that NPC2-mediated free cholesterol homeostasis controls hepatic stellate cells proliferation and mitochondrial function. PMID: 29874879
3. Niemann-Pick disease type C .E118X NPC2 gene mutation may be prevalent among individuals in Anatolia. PMID: 28808920
4. The heterozygous mutations of NPC2 gene could contribute to dementia plus, at least in a subset of patients. PMID: 27792009
5. Stopped-Flow Fluorescence Methods for Investigating Intracellular Cholesterol Transport Mechanisms of NPC2 Protein. PMID: 28205170
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. PMID: 27551080
7. 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. PMID: 27339554
8. Overall, we provide a mechanism by which npc2-mediated cholesterol transport is controlled by the membrane composition and how npc2-lipid interactions can regulate the transport rate. PMID: 29084218
9. Our results suggest that NPC2 is in a mitochondrially associated autophagosome and plays an important role in regulating mitophagy, mitochondrial quality control, and mitochondrial function. PMID: 27402802
10. NEGR1 interacts with NPC2 and increases its protein stability PMID: 27940359
11. suggest a general mechanism for NPC2 mediated sterol transfer, in which Phe66, Val96, and Tyr100 act as reversible gate keepers. These residues stabilize the sterol in the binding pose via pi-pi stacking but move transiently apart during sterol release PMID: 27533706
12. Study demonstrates that Niemann-Pick type C disease can present in early years of life with pulmonary complications like alveolar proteinosis and hepatosplenomegaly or hepatomegaly due to mutation in NPC2 gene. PMID: 28095804
13. 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. PMID: 25764212
14. Structure of glycosylated NPC1 luminal domain C reveals insights into NPC2 and Ebola virus interactions PMID: 26846330
15. hypothesize that, in part, NPC2 rapidly traffics cholesterol between closely appositioned membranes within the multilamellar interior of late endosomal/lysosomal proteins, ultimately effecting cholesterol egress from this compartment PMID: 26296895
16. NPC2 may play an important role in negatively regulate cell proliferation. PMID: 25754535
17. heterozygous mutations in the NPC1/2 gene might be a risk factor for Alzheimer's disease PMID: 25220527
18. Data suggest that in order for the ligand cholesterol to slide from one binding pocket to the other (from NPC2 to NPC1), cholesterol undergoes conformational change/isomerization to accommodate the bent transfer pathway between the 2 binding pockets. PMID: 25251378
19. Suggest role for mouse epididymal NPC2 in regulating male fertility. PMID: 24709320
20. twelve individuals were subsequently confirmed to be NP-C by DNA analysis of NPC1 and NPC2 genes, with the early infantile form, the late infantile form, the juvenile form, and the adult form PMID: 24915861
21. Recombinant NPC2 protein increases triglyceride levels in body fat. PMID: 24438076
22. these results suggest that the vitamin A-mediated antimicrobial mechanism against M. tuberculosis requires NPC2-dependent expression and function, indicating a key role for cellular cholesterol regulation in the innate immune response. PMID: 24501203
23. The p.Pro120Ser causing mutation in NPC2 observed in the Iranian patients was earlier observed in the only other NPC2 patient reported from the Middle East. PMID: 23791309
24. an atomistic model is proposed of the transfer of cholesterol from NPC2 to NPC1(NTD) through the formation of an intermediate NPC1(NTD)-NPC2 complex PMID: 24001314
25. NPC2-deficiency leads to a dramatic up-regulation of the arachidonic acid (AA) metabolic pathway in human fibroblasts. PMID: 23814065
26. Treatment of NPC1-null or NPC2-deficient cells with cyclodextrin was effective in reducing cholesterol storage as well as the endocytic accumulation of sialoglycoproteins, demonstrating a direct link between cholesterol storage and abnormal recycling. PMID: 23733943
27. The NPC2 delivers cholesterol to the perimeter membrane of late endosomes, where it becomes available for transport to mitochondria without requiring NPC1. PMID: 22962690
28. overexpression of ABCA1 alone is able to correct the mobilization of cholesterol from late endosomes/lysosomes and the formation of HDL particles in NPC1- but not NPC2-deficient human fibroblasts PMID: 22179027
29. This is the first report demonstrating that GNMT plays an important role in regulating cholesterol homeostasis via interaction with NPC2 PMID: 22183894
30. Loss of Niemann Pick type C proteins 1 and 2 greatly enhances HIV infectivity and is associated with accumulation of HIV Gag and cholesterol in late endosomes/lysosomes. PMID: 22273177
31. mechanism of sterol transport by cyclodextrins using in vitro model systems and fluorescence spectroscopy and NPC2-deficient fibroblasts PMID: 21740003
32. NPC2 protein of certain cells forms papillae coupled with apoptosis that creates open space PMID: 21253586
33. a novel mechanism where NPC2 by negatively regulating ERK 1/2 MAPK phosphorylation may efficiently suppress development of maladaptive tissue remodeling and inflammation. PMID: 21084287
34. NPC2 protein interacts N-ternimal domain of NPC1 protein, thereby opening an entry pore on NPC1 protein and allowing cholesterol to transfer without passing through the water phase. PMID: 20674861
35. NPC2 as a novel intracrine/autocrine factor that controls adipocyte differentiation and function PMID: 20650896
36. physiological and coordinate downregulation of the NPC1 and NPC2 genes/proteins promotes the sequestration of LDL-derived cholesterol within endocytic compartments and serves a role in maintaining intracellular cholesterol homeostasis PMID: 19746448
37. The results suggest that NPC1 and NPC2 can function independently of one another in the egress of certain membrane-impermeable lysosomal cargo. PMID: 20007703
38. Review of NPC1 and HE1/NPC2 roles regulating cholesterol transport through endosomal/lysosomal system and in Niemann-Pick type C disease PMID: 12125814
39. NPC2, NPC1 and MLN64 may act in an ordered sequence to sense cholesterol, effect sterol movement, and consequently, influence the process of vesicular trafficking. PMID: 12398991
40. Adult-onset NPC2 with lysosomal storage virtually restricted to neurons represents a novel phenotypic and genotypic variant with diffuse cognitive impairment and focal frontal involvement described for the first time. PMID: 12447927
41. NPC2 protein has binding sites with a role in efficient secretion PMID: 12591949
42. NPC1 and NPC2 have a role in the regulation of sterol homeostasis through generation of LDL cholesterol-derived oxysterols PMID: 12719428
43. The HE1 transcript was affected by the obstruction of the epididymis with little or no mRNA detectable along the epididymis. PMID: 14662784
44. Functional characterization of the mutant proteins showed an excellent genotype-phenotype correlation in the three cases for whom a clinical history was available PMID: 15937921
45. NPC2 is secreted from the liver into bile and plasma, where it may have a functional role in cholesterol transport in normal and disease conditions. PMID: 16374838
46. NPC2 protein has a role in the egress of LDL derived cholesterol out of the endosomal/lysosomal compartment PMID: 16606609
47. Compared with normal men, seminal plasma of vasectomized men is characterized by a major decrease in immunodetectable HE1/NPC2 and surgical vasectomy reversal will normalize seminal plasma HE1/NPC2 amount to similar level of that of normal mem. PMID: 16772431
48. NPC2 has a direct and specialized function in lysosomal sterol transport PMID: 17018531
49. p.P120S mutation, the first naturally occurring missense mutation located in the cholesterol-binding Evolutionarily Constrained Regions D domain, results in reduced amounts of a protein capable to reach the lysosome, but unable to bind cholesterol. PMID: 17470133
50. role of the AP-3 pathway in targeting of NP-C proteins; study found although mouse NPC1 & hNPC2 co-localize with AP-3 to a similar extent in fibroblasts, hNPC2 preferentially co-localizes with AP-1; targeting of both NPC1 & NPC2 is dependent on AP-3 PMID: 17895371

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HGNC: 14537

OMIM: 601015

KEGG: hsa:10577

STRING: 9606.ENSP00000451112

UniGene: Hs.433222