The NPC1 protein: Structure implies function

Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids

Volumn 1685, Issue 1-3, 2004, Pages 8-13

  Scott, Catherine ^a   Ioannou, Y A ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Function; NPC1 protein; Structure

Indexed keywords

CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; MEMBRANE PROTEIN; NIEMANN PICK TYPE C 1 PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; CHILDHOOD DISEASE; CHOLESTEROL TRANSPORT; DEGENERATIVE DISEASE; DOWN REGULATION; GENE MUTATION; GENETIC CODE; GLYCOSYLATION; HEPATOMEGALY; HOMEOSTASIS; HUMAN; LIPID TRANSPORT; MISSENSE MUTATION; NIEMANN PICK DISEASE; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DEGRADATION; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN STRUCTURE; PROTEIN TRANSPORT; REVIEW;

AMINO ACID SEQUENCE; ANIMALS; CARRIER PROTEINS; CHOLESTEROL; ENDOSOMES; HUMANS; MEMBRANE GLYCOPROTEINS; MODELS, BIOLOGICAL; MOLECULAR SEQUENCE DATA; MUTATION; NIEMANN-PICK DISEASES; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; SEQUENCE HOMOLOGY, AMINO ACID; STRUCTURE-ACTIVITY RELATIONSHIP;

PROKARYOTA;

EID: 4744373445     PISSN: 13881981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbalip.2004.08.006     Document Type: Review

References (61)

1. M.T. Vanier, C. Rodriguez-Lafrasse, R. Rousson, N. Gazzah, M.-C. Juge, P.G. Pentchev, A. Revol, and P. Louisot Biochim. Biophys. Acta 1096 1991 328 337
2. P.G. Pentchev, R.O. Brady, E.J. Blanchette-Mackie, M.T. Vanier, E.D. Carstea, C.C. Parker, E. Goldin, and C.F. Roff Biochim. Biophys. Acta 1225 1994 235 243
3. M.C. Patterson, M.T. Vanier, M.C. Suzuki, J.A. Morris, E. Carstea, E.B. Neufeld, E.J. Blanchette-Mackie, and P.G. Pentchev C.R. Scriver W.S. Sly D. Valle The Metabolic and Molecular Bases of Inherited Disease 2001 McGraw-Hill New York 3611 3633
4. P.G. Pentchev, H.S. Kruth, M.E. Comly, J.D. Butler, M.T. Vanier, D.A. Wenger, and S. Patel J. Biol. Chem. 261 1986 16775 16780
5. E.D. Carstea, J.A. Morris, K.G. Coleman, S.K. Loftus, D. Zhang, C. Cummings, J. Gu, M.A. Rosenfeld, W.J. Pavan, D.B. Krizman, J. Nagle, M.H. Polymeropoulos, S.L. Sturley, Y.A. Ioannou, M.E. Higgins, M. Comly, A. Cooney, A. Brown, C.R. Kaneski, E.J. Blanchette-Mackie, N.K. Dwyer, E.B. Neufeld, T.Y. Chang, L. Liscum, and D.A. Tagle Science 277 1997 228 231
6. J.A. Morris, D. Zhang, K.G. Coleman, J. Nagle, P.G. Pentchev, and E.D. Carstea Biochem. Biophys. Res. Commun. 261 1999 493 498
7. T. Yamamoto, E. Nanba, H. Ninomiya, K. Higaki, M. Taniguchi, H. Zhang, S. Akaboshi, Y. Watanabe, T. Takeshima, K. Inui, S. Okada, A. Tanaka, N. Sakuragawa, G. Millat, M.T. Vanier, J.A. Morris, P.G. Pentchev, and K. Ohno Hum. Genet. 105 1999 10 16
8. G. Millat, C. Marcais, M.A. Rafi, T. Yamamoto, J.A. Morris, P.G. Pentchev, K. Ohno, D.A. Wenger, and M.T. Vanier Am. J. Hum. Genet. 65 1999 1321 1329
9. W.L. Greer, M.J. Dobson, G.S. Girouard, D.M. Byers, D.C. Riddell, and P.E. Neumann Am. J. Hum. Genet. 65 1999 1252 1260
10. W.L. Greer, D.C. Riddell, T.L. Gillan, G.S. Girouard, S.M. Sparrow, D.M. Byers, M.J. Dobson, and P.E. Neumann Am. J. Hum. Genet 63 1998 52 54
11. X. Sun, D.L. Marks, W.D. Park, C.L. Wheatley, V. Puri, J.F. O'Brien, D.L. Kraft, P.A. Lundquist, M.C. Patterson, R.E. Pagano, and K. Snow Am. J. Hum. Genet. 68 2001 1361 1372
12. G. Millat, C. Marcais, C. Tomasetto, K. Chikh, A.H. Fensom, K. Harzer, D.A. Wenger, K. Ohno, and M.T. Vanier Am. J. Hum. Genet. 68 2001 1373 1385
13. T. Yamamoto, H. Ninomiya, M. Matsumoto, Y. Ohta, E. Nanba, Y. Tsutsumi, K. Yamakawa, G. Millat, M.T. Vanier, P.G. Pentchev, and K. Ohno J. Med. Genet. 37 2000 707 712
14. P. Bauer, R. Knoblich, C. Bauer, U. Finckh, A. Hufen, J. Kropp, S. Braun, B. Kustermann-Kuhn, D. Schmidt, K. Harzer, and A. Rolfs Human Mutat. 19 2002 30 38
15. W.D. Park, J.F. O'Brien, P.A. Lundquist, D.L. Kraft, C.W. Vockley, P.S. Karnes, M.C. Patterson, and K. Snow Human Mutat. 22 2003 313 325
16. J.P. Davies, and Y.A. Ioannou J. Biol. Chem. 275 2000 24367 24374
17. K.M. Cadigan, D.M. Spillane, and T.Y. Chang J. Cell Biol. 110 1990 295 308
18. N.K. Dahl, K.L. Reed, M.A. Daunais, J.R. Faust, and L. Liscum J. Biol. Chem. 267 1992 4889 4896
19. J.C. Cruz, S. Sugii, C. Yu, and T.Y. Chang J. Biol. Chem. 275 2000 4013 4021
20. E.E. Millard, K. Srivastava, L.M. Traub, J.E. Schaffer, and D.S. Ory J. Biol. Chem. 275 2000 38445 38451
21. K. Higaki, H. Ninomiya, Y. Sugimoto, T. Suzuki, M. Taniguchi, H. Niwa, P.G. Pentchev, M.T. Vanier, and K. Ohno J. Biochem. (Tokyo) 129 2001 875 880
22. J.P. Davies, B. Levy, and Y.A. Ioannou Genomics 65 2000 137 145
23. S.W. Altmann, H.R. Davis Jr., L.J. Zhu, X. Yao, L.M. Hoos, G. Tetzloff, S.P. Iyer, M. Maguire, A. Golovko, M. Zeng, L. Wang, N. Murgolo, and M.P. Graziano Science 303 2004 1201 1204
24. J.P. Davies, and Y.A. Ioannou J. Biol. Chem. 275 2000 24367 24374
25. H. Watari, E.J. Blanchette-Mackie, N.K. Dwyer, M. Watari, E.B. Neufeld, S. Patel, P.G. Pentchev, and J.F. Strauss III J. Biol. Chem. 274 1999 21861 21866
26. V. Marigo, R.A. Davey, Y. Zuo, J.M. Cunningham, and C.J. Tabin Nature 384 1996 176 179
27. D.M. Stone, M. Hynes, M. Armanini, T.A. Swanson, Q. Gu, R.L. Johnson, M.P. Scott, D. Pennica, A. Goddard, H. Phillips, M. Noll, J.E. Hooper, F. de Sauvage, and A. Rosenthal Nature 384 1996 129 133
28. M.J. Fietz, J.-P. Concordet, R. Barbosa, R. Johnson, S. Krauss, A.P. McMahon, C. Tabin, and P.W. Ingham Development 1994 43 51
29. J.J. Lee, S.C. Ekker, D.P. von Kessler, J.A. Porter, B.I. Sun, and P.A. Beachy Science 266 1994 1528 1537
30. X. Hua, A. Nohturfft, J.L. Goldstein, and M.S. Brown Cell 87 1996 415 426
31. P.G. Pentchev, M.E. Comly, H.S. Kruth, T. Tokoro, J. Butler, J. Sokol, M. Filling-Katz, J.M. Quirk, D.C. Marshall, and S. Patel FASEB J. 1 1987 40 45
32. L. Liscum, and J.R. Faust J. Biol. Chem. 262 1987 17002 17008
33. E.B. Neufeld, M. Wastney, S. Patel, S. Suresh, A.M. Cooney, N.K. Dwyer, C.F. Roff, K. Ohno, J.A. Morris, E.D. Carstea, J.P. Incardona, J.F. Strauss III, M.T. Vanier, M.C. Patterson, R.O. Brady, P.G. Pentchev, and E.J. Blanchette-Mackie J. Biol. Chem. 274 1999 9627 9635
34. S.C. Patel, S. Suresh, U. Kumar, C.Y. Hu, A. Cooney, E.J. Blanchette-Mackie, E.B. Neufeld, R.C. Patel, R.O. Brady, Y.C. Patel, P.G. Pentchev, and W.Y. Ong Proc. Natl. Acad Sci. U. S. A. 96 1999 1657 1662
35. M.E. Higgins, J.P. Davies, F.W. Chen, and Y.A. Ioannou Mol. Genet. Metab. 68 1999 1 13
36. M. Zhang, N.K. Dwyer, E.B. Neufeld, D.C. Love, A. Cooney, M. Comly, S. Patel, H. Watari, J.F. Strauss III, P.G. Pentchev, J.A. Hanover, and E.J. Blanchette-Mackie J. Biol. Chem. 276 2001 3417 3425
37. T. Kobayashi, M.-H. Beuchat, M. Lindsay, S. Frias, R.D. Palmiter, H. Sakuraba, R.G. Parton, and J. Gruenberg Nat. Cell Biol. 1 1999 113 118
38. W. Mobius, E. Van Donselaar, Y. Ohno-Iwashita, Y. Shimada, H.F. Heijnen, J.W. Slot, and H.J. Geuze Traffic 4 2003 222 231
39. M. Walter, J.P. Davies, and Y.A. Ioannou J. Lipid Res. 44 2003 243 253
40. A. Choudhury, M. Dominguez, V. Puri, D.K. Sharma, K. Narita, C.L. Wheatley, D.L. Marks, and R.E. Pagano J. Clin. Invest. 109 2002 1541 1550
41. V. Puri, R. Watanabe, M. Dominguez, X. Sun, C.L. Wheatley, D.L. Marks, and R.E. Pagano Nat. Cell Biol. 1 1999 386 388
42. D.C. Ko, M.D. Gordon, J.Y. Jin, and M.P. Scott Mol. Biol. Cell 12 2001 601 614
43. M. Zhang, N.K. Dwyer, D.C. Love, A. Cooney, M. Comly, E. Neufeld, P.G. Pentchev, E.J. Blanchette-Mackie, and J.A. Hanover Proc. Natl. Acad Sci. U. S. A. 98 2001 4466 4471
44. K. Malathi, K. Higaki, A.H. Tinkelenberg, D.A. Balderes, D. Almanzar-Paramio, L.J. Wilcox, N. Erdeniz, F. Redican, M. Padamsee, Y. Liu, S. Khan, F. Alcantara, E.D. Carstea, J.A. Morris, and S.L. Sturley J. Cell Biol. 164 2004 547 556
45. M. Fukuda, J. Viitala, J. Matteson, and S.R. Carlsson J. Biol. Chem. 262 1988 18920 18928
46. H. Watari, E.J. Blanchette-Mackie, N.K. Dwyer, J.M. Glick, S. Patel, E.B. Neufeld, R.O. Brady, P.G. Pentchev, and J.F. Strauss III Proc. Natl. Acad Sci. U. S. A. 96 1999 805 810
47. T.-T. Tseng, K.S. Gratwick, J. Kollman, D. Park, D.H. Nies, A. Goffeau, and M.H. Saier Jr. J. Mol. Microbiol. Biotechnol. 1 1999 107 125
48. J.P. Davies, F.W. Chen, and Y.A. Ioannou Science 290 2000 2295 2298
49. J. Taipale, M.K. Cooper, T. Maiti, and P.A. Beachy Nature 418 2002 892 897
50. N. Wang, D.L. Silver, C. Thiele, and A.R. Tall J. Biol. Chem. 17 2001 17
51. M. Zervas, K.L. Somers, M.A. Thrall, and S.U. Walkley Curr. Biol. 11 2001 1283 1287
52. Y. Liu, Y.P. Wu, R. Wada, E.B. Neufeld, K.A. Mullin, A.C. Howard, P.G. Pentchev, M.T. Vanier, K. Suzuki, and R.L. Proia Hum. Mol. Genet 9 2000 1087 1092
53. S. Murakami, R. Nakashima, E. Yamashita, and A. Yamaguchi Nature 419 2002 587 593
54. W.E. Kaminski, H.H. Klunemann, B. Ibach, C. Aslanidis, H.E. Klein, and G. Schmitz J. Inherit. Metab. Dis. 25 2002 385 389
55. P. Tarugi, G. Ballarini, B. Bembi, C. Battisti, S. Palmeri, F. Panzani, E. Di Leo, C. Martini, A. Federico, and S. Calandra J. Lipid Res. 43 2002 1908 1919
56. E.D. Carstea, J.A. Morris, K.G. Coleman, S.K. Loftus, D. Zhang, C. Cummings, J. Gu, M.A. Rosenfeld, W.J. Pavan, D.B. Krizman, J. Nagle, M.H. Polymeropoulos, S.L. Sturley, Y.A. Ioannou, M.E. Higgins, M. Comly, A. Cooney, A. Brown, C.R. Kaneski, E.J. Blanchette-Mackie, N.K. Dwyer, E.B. Neufeld, T.Y. Chang, L. Liscum, and D.A. Tagle Science 277 1997 228 231
57. X. Sun, D.L. Marks, W.D. Park, C.L. Wheatley, V. Puri, J.F. O'Brien, D.L. Kraft, P.A. Lundquist, M.C. Patterson, R.E. Pagano, and K. Snow Am. J. Hum. Genet 68 2001 1361 1372
58. I. Ribeiro, A. Marcao, O. Amaral, M.C. Sa Miranda, M.T. Vanier, and G. Millat Hum. Genet. 109 2001 24 32
59. G. Millat, C. Marcais, C. Tomasetto, K. Chikh, A.H. Fensom, K. Harzer, D.A. Wenger, K. Ohno, and M.T. Vanier Am. J. Hum. Genet. 68 2001 1373 1385
60. V. Meiner, S. Shpitzen, H. Mandel, A. Klar, Z. Ben-Neriah, J. Zlotogora, M. Sagi, A. Lossos, R. Bargal, V. Sury, R. Carmi, E. Leitersdorf, and M. Zeigler Genet. Med. 3 2001 343 348
61. T.S. Blom, M.D. Linder, K. Snow, H. Pihko, M.W. Hess, E. Jokitalo, V. Veckman, A.C. Syvanen, and E. Ikonen Hum. Mol. Genet 12 2003 257 272