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NPCA1  -  Nasopharyngeal carcinoma 1

Homo sapiens

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Disease relevance of NPC1


Psychiatry related information on NPC1


High impact information on NPC1

  • Our findings provide evidence of a major susceptibility locus for NPC on chromosome 4 in a subset of families [10].
  • In areas with high incidence, NPC clusters in families, which suggests that both geography and genetics may influence disease risk [10].
  • Here we report the results of a genome-wide search carried out in families at high risk of NPC from Guangdong Province, China. Parametric analyses provide evidence of linkage to the D4S405 marker on chromosome 4 with a logarithm of odds for linkage (lod) score of 3.06 and a heterogeneity-adjusted lod (hlod) score of 3.21 [10].
  • Epstein-Barr virus (EBV) has been associated with nasopharyngeal carcinoma, some lymphomas, and lymphoproliferative disease after organ transplantation [11].
  • The presence of EBV in metastases from an occult primary tumor is predictive of the development of overt nasopharyngeal carcinoma [12].

Chemical compound and disease context of NPC1


Biological context of NPC1


Anatomical context of NPC1

  • We have now investigated whether this NO-dependent Gpc-1 autoprocessing is active in fibroblasts from NPC1 disease [22].
  • Exit of recycling cholesterol from late endosomes is defective in Niemann-Pick C1 (NPC1) and Niemann-Pick C2 (NPC2) diseases [22].
  • The presence of NPC1 in endosomal structures in nerve terminals, and the finding of aberrant synaptic vesicles, suggest that defects in synaptic vesicle recycling contribute to neurological abnormalities characteristic of NPC disease [23].
  • We found that NPC1-deficient mice lacked Valpha14-Jalpha18 NKT cells, a major population of CD1d-restricted T cells that is conserved in humans [3].
  • Most cases of NP-C are associated with inactivating mutations of the NPC1 gene [2], which encodes a protein implicated in the retrograde transport of sterols and other cargo from lysosomes [3] [24].

Associations of NPC1 with chemical compounds

  • The synthesis of phosphatidylcholine, cholesteryl esters, and cholesterol in hepatocytes was increased by NPC1 deficiency and the amount of the mature form of sterol response element-binding protein-1 was also increased [18].
  • We report a Japanese patient with NPC caused by a homozygous c.2974 G > T mutation of the NPC1 gene, which predicts a glycine (GGG) to tryptophan (TGG) change at codon 992 (designated as p.G992W) [5].
  • We show that the neurosteroid allopregnanolone (ALLO) and T0901317, a synthetic oxysterol ligand, act in concert to delay onset of neurological symptoms and prolong the lifespan of npc1(-/-) mice [1].
  • In 56 day old npc1(-/-) mice that had been fed from 35 days of age a rodent diet or the same diet containing either cholesterol (1.0%, w/w) or ezetimibe (a sterol absorption inhibitor; 0.0125%, w/w), whole liver cholesterol content averaged 33.5 +/- 1.1, 87.9 +/- 1.7, and 20.8 +/- 0.9 mg, respectively [25].
  • LXR agonist treatment prior to and during apoA-I incubation resulted in reduction in filipin staining of unesterified cholesterol in late endosomes/lysosomes, as well as cholesterol mass, in NPC1(-/-) cells [26].

Physical interactions of NPC1


Regulatory relationships of NPC1


Other interactions of NPC1


Analytical, diagnostic and therapeutic context of NPC1


  1. Pregnane X receptor (PXR) activation: A mechanism for neuroprotection in a mouse model of Niemann-Pick C disease. Langmade, S.J., Gale, S.E., Frolov, A., Mohri, I., Suzuki, K., Mellon, S.H., Walkley, S.U., Covey, D.F., Schaffer, J.E., Ory, D.S. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  2. Sperm defects in mice lacking a functional Niemann-Pick C1 protein. Fan, J., Akabane, H., Graham, S.N., Richardson, L.L., Zhu, G.Z. Mol. Reprod. Dev. (2006) [Pubmed]
  3. Cutting edge: impaired glycosphingolipid trafficking and NKT cell development in mice lacking Niemann-Pick type C1 protein. Sagiv, Y., Hudspeth, K., Mattner, J., Schrantz, N., Stern, R.K., Zhou, D., Savage, P.B., Teyton, L., Bendelac, A. J. Immunol. (2006) [Pubmed]
  4. Mutations in NPC1 in two Brazilian patients with Niemann-Pick disease type C and progressive supranuclear palsy-like presentation. Godeiro-J??nior, C., Jun Inaoka, R., Rocha Barbosa, M., Regis Silva, M.R., de Carvalho Aguiar, P., Barsottini, O. Mov. Disord. (2006) [Pubmed]
  5. Niemann-Pick disease type C: cataplexy and hypocretin in cerebrospinal fluid. Oyama, K., Takahashi, T., Shoji, Y., Oyamada, M., Noguchi, A., Tamura, H., Takada, G., Kanbayashi, T. Tohoku J. Exp. Med. (2006) [Pubmed]
  6. Cigarette smoking, alcohol, and nasopharyngeal carcinoma: a case-control study among U.S. whites. Nam, J.M., McLaughlin, J.K., Blot, W.J. J. Natl. Cancer Inst. (1992) [Pubmed]
  7. Diet, living conditions and nasopharyngeal carcinoma in Tunisia--a case-control study. Jeannel, D., Hubert, A., de Vathaire, F., Ellouz, R., Camoun, M., Ben Salem, M., Sancho-Garnier, H., de-Thé, G. Int. J. Cancer (1990) [Pubmed]
  8. Epstein-Barr virus activation in Raji cells by extracts of preserved food from high risk areas for nasopharyngeal carcinoma. Shao, Y.M., Poirier, S., Ohshima, H., Malaveille, C., Zeng, Y., de Thé, G., Bartsch, H. Carcinogenesis (1988) [Pubmed]
  9. Influence of [18F] fluorodeoxyglucose positron emission tomography on salvage treatment decision making for locally persistent nasopharyngeal carcinoma. Zheng, X.K., Chen, L.H., Wang, Q.S., Wu, F.B. Int. J. Radiat. Oncol. Biol. Phys. (2006) [Pubmed]
  10. Genome-wide scan for familial nasopharyngeal carcinoma reveals evidence of linkage to chromosome 4. Feng, B.J., Huang, W., Shugart, Y.Y., Lee, M.K., Zhang, F., Xia, J.C., Wang, H.Y., Huang, T.B., Jian, S.W., Huang, P., Feng, Q.S., Huang, L.X., Yu, X.J., Li, D., Chen, L.Z., Jia, W.H., Fang, Y., Huang, H.M., Zhu, J.L., Liu, X.M., Zhao, Y., Liu, W.Q., Deng, M.Q., Hu, W.H., Wu, S.X., Mo, H.Y., Hong, M.F., King, M.C., Chen, Z., Zeng, Y.X. Nat. Genet. (2002) [Pubmed]
  11. The association of Epstein-Barr virus with smooth-muscle tumors occurring after organ transplantation. Lee, E.S., Locker, J., Nalesnik, M., Reyes, J., Jaffe, R., Alashari, M., Nour, B., Tzakis, A., Dickman, P.S. N. Engl. J. Med. (1995) [Pubmed]
  12. Diagnosis of nasopharyngeal carcinoma by DNA amplification of tissue obtained by fine-needle aspiration. Feinmesser, R., Miyazaki, I., Cheung, R., Freeman, J.L., Noyek, A.M., Dosch, H.M. N. Engl. J. Med. (1992) [Pubmed]
  13. Diagnosis of nasopharyngeal carcinoma by means of recombinant Epstein-Barr virus proteins. Littler, E., Baylis, S.A., Zeng, Y., Conway, M.J., Mackett, M., Arrand, J.R. Lancet (1991) [Pubmed]
  14. Phase II study of neoadjuvant carboplatin and paclitaxel followed by radiotherapy and concurrent cisplatin in patients with locoregionally advanced nasopharyngeal carcinoma: therapeutic monitoring with plasma Epstein-Barr virus DNA. Chan, A.T., Ma, B.B., Lo, Y.M., Leung, S.F., Kwan, W.H., Hui, E.P., Mok, T.S., Kam, M., Chan, L.S., Chiu, S.K., Yu, K.H., Cheung, K.Y., Lai, K., Lai, M., Mo, F., Yeo, W., King, A., Johnson, P.J., Teo, P.M., Zee, B. J. Clin. Oncol. (2004) [Pubmed]
  15. Major toxicity of cisplatin, fluorouracil, and leucovorin following chemoradiotherapy in patients with nasopharyngeal carcinoma. Celik, I., Kars, A., Ozyar, E., Tekuzman, G., Atahan, L., Firat, D. J. Clin. Oncol. (1996) [Pubmed]
  16. Absence of p53 gene mutations in primary nasopharyngeal carcinomas. Spruck, C.H., Tsai, Y.C., Huang, D.P., Yang, A.S., Rideout, W.M., Gonzalez-Zulueta, M., Choi, P., Lo, K.W., Yu, M.C., Jones, P.A. Cancer Res. (1992) [Pubmed]
  17. Cathepsin D, a lysosomal protease, regulates ABCA1-mediated lipid efflux. Haidar, B., Kiss, R.S., Sarov-Blat, L., Brunet, R., Harder, C., McPherson, R., Marcel, Y.L. J. Biol. Chem. (2006) [Pubmed]
  18. Lipid homeostasis and lipoprotein secretion in Niemann-Pick C1-deficient hepatocytes. Kulinski, A., Vance, J.E. J. Biol. Chem. (2007) [Pubmed]
  19. Decreased membrane fluidity and unsaturated fatty acids in Niemann-Pick disease type C fibroblasts. Koike, T., Ishida, G., Taniguchi, M., Higaki, K., Ayaki, Y., Saito, M., Sakakihara, Y., Iwamori, M., Ohno, K. Biochim. Biophys. Acta (1998) [Pubmed]
  20. Neuropsychological profile of adult patients with Niemann-Pick C1 (NPC1) mutations. Klarner, B., Klünemann, H.H., Lürding, R., Aslanidis, C., Rupprecht, R. Journal of inherited metabolic disease (2007) [Pubmed]
  21. Linkage of a nasopharyngeal carcinoma susceptibility locus to the HLA region. Lu, S.J., Day, N.E., Degos, L., Lepage, V., Wang, P.C., Chan, S.H., Simons, M., McKnight, B., Easton, D., Zeng, Y. Nature (1990) [Pubmed]
  22. Defective nitric oxide-dependent, deaminative cleavage of glypican-1 heparan sulfate in Niemann-Pick C1 fibroblasts. Mani, K., Cheng, F., Fransson, L.A. Glycobiology (2006) [Pubmed]
  23. Lipid dynamics in neurons. Vance, J.E., Karten, B., Hayashi, H. Biochem. Soc. Trans. (2006) [Pubmed]
  24. A model for niemann-pick type C disease in the nematode Caenorhabditis elegans. Sym, M., Basson, M., Johnson, C. Curr. Biol. (2000) [Pubmed]
  25. Lysosomal unesterified cholesterol content correlates with liver cell death in murine Niemann-Pick type C disease. Beltroy, E.P., Liu, B., Dietschy, J.M., Turley, S.D. J. Lipid Res. (2007) [Pubmed]
  26. Correction of Apolipoprotein A-I-mediated Lipid Efflux and High Density Lipoprotein Particle Formation in Human Niemann-Pick Type C Disease Fibroblasts. Boadu, E., Choi, H.Y., Lee, D.W., Waddington, E.I., Chan, T., Asztalos, B., Vance, J.E., Chan, A., Castro, G., Francis, G.A. J. Biol. Chem. (2006) [Pubmed]
  27. Activation of nuclear factor-kappaB p50 homodimer/Bcl-3 complexes in nasopharyngeal carcinoma. Thornburg, N.J., Pathmanathan, R., Raab-Traub, N. Cancer Res. (2003) [Pubmed]
  28. Expression of E-cadherin/catenin complex in nasopharyngeal carcinoma: correlation with clinicopathological parameters. Lou, P., Chen, W., Sheen, T., Ko, J., Hsu, M., Wu, J. Oncol. Rep. (1999) [Pubmed]
  29. A functional variant in the transcriptional regulatory region of gene LOC344967 cosegregates with disease phenotype in familial nasopharyngeal carcinoma. Jiang, R.C., Qin, H.D., Zeng, M.S., Huang, W., Feng, B.J., Zhang, F., Chen, H.K., Jia, W.H., Chen, L.Z., Feng, Q.S., Zhang, R.H., Yu, X.J., Zheng, M.Z., Zeng, Y.X. Cancer Res. (2006) [Pubmed]
  30. EGFR tyrosine kinase inhibitor AG1478 inhibits cell proliferation and arrests cell cycle in nasopharyngeal carcinoma cells. Zhu, X.F., Liu, Z.C., Xie, B.F., Li, Z.M., Feng, G.K., Yang, D., Zeng, Y.X. Cancer Lett. (2001) [Pubmed]
  31. The oncogenic protein kinase Tpl-2/Cot contributes to Epstein-Barr virus-encoded latent infection membrane protein 1-induced NF-kappaB signaling downstream of TRAF2. Eliopoulos, A.G., Davies, C., Blake, S.S., Murray, P., Najafipour, S., Tsichlis, P.N., Young, L.S. J. Virol. (2002) [Pubmed]
  32. Tissue distribution of the secretory protein, SPLUNC1, in the human fetus. Zhou, H.D., Fan, S.Q., Zhao, J., Huang, D.H., Zhou, M., Liu, H.Y., Zeng, Z.Y., Yang, Y.X., Huang, H., Li, X.L., Shen, S.R., Li, G.Y. Histochem. Cell Biol. (2006) [Pubmed]
  33. E-, P-, and N-cadherin are co-expressed in the nasopharyngeal carcinoma cell line TW-039. Lou, P.J., Chen, W.P., Lin, C.T., DePhilip, R.M., Wu, J.C. J. Cell. Biochem. (1999) [Pubmed]
  34. THY1 is a candidate tumour suppressor gene with decreased expression in metastatic nasopharyngeal carcinoma. Lung, H.L., Bangarusamy, D.K., Xie, D., Cheung, A.K., Cheng, Y., Kumaran, M.K., Miller, L., Liu, E.T., Guan, X.Y., Sham, J.S., Fang, Y., Li, L., Wang, N., Protopopov, A.I., Zabarovsky, E.R., Tsao, S.W., Stanbridge, E.J., Lung, M.L. Oncogene (2005) [Pubmed]
  35. Induction of interleukin-8 by Epstein-Barr virus latent membrane protein-1 and its correlation to angiogenesis in nasopharyngeal carcinoma. Yoshizaki, T., Horikawa, T., Qing-Chun, R., Wakisaka, N., Takeshita, H., Sheen, T.S., Lee, S.Y., Sato, H., Furukawa, M. Clin. Cancer Res. (2001) [Pubmed]
  36. Coexpression of hypoxia-inducible factors 1alpha and 2alpha, carbonic anhydrase IX, and vascular endothelial growth factor in nasopharyngeal carcinoma and relationship to survival. Hui, E.P., Chan, A.T., Pezzella, F., Turley, H., To, K.F., Poon, T.C., Zee, B., Mo, F., Teo, P.M., Huang, D.P., Gatter, K.C., Johnson, P.J., Harris, A.L. Clin. Cancer Res. (2002) [Pubmed]
  37. Chemokine receptor expression profiles in nasopharyngeal carcinoma and their association with metastasis and radiotherapy. Ou, D.L., Chen, C.L., Lin, S.B., Hsu, C.H., Lin, L.I. J. Pathol. (2006) [Pubmed]
  38. Clues to neuro-degeneration in niemann-pick type C disease from global gene expression profiling. Reddy, J.V., Ganley, I.G., Pfeffer, S.R. PLoS ONE (2006) [Pubmed]
  39. European Organization for Research on Treatment of Cancer (E.O.R.T.C.). Controlled trials of chemotherapy as an adjuvant or palliative treatment of nasopharyngeal carcinoma. Molinari, R. IARC scientific publications. (1978) [Pubmed]
  40. Plasma Epstein-Barr virus DNA and residual disease after radiotherapy for undifferentiated nasopharyngeal carcinoma. Chan, A.T., Lo, Y.M., Zee, B., Chan, L.Y., Ma, B.B., Leung, S.F., Mo, F., Lai, M., Ho, S., Huang, D.P., Johnson, P.J. J. Natl. Cancer Inst. (2002) [Pubmed]
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