Effect of Hailey-Hailey Disease Mutations on the Function of a New Variant of Human Secretory Pathway Ca2+/Mn2+-ATPase (hSPCA1)

Journal of Biological Chemistry

Volumn 278, Issue 27, 2003, Pages 24721-24730

  Fairclough, Rebecca J ^a   Dode, Leonard ^a   Vanoevelen, Jo ^b   Andersen, Jens Peter ^c   Missiaen, Ludwig ^b   Raeymaekers, Luc ^b   Wuytack, Frank ^b   Hovnanian, Alain ^a,d  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c AARHUS UNIVERSITY   (Denmark)

^d CHU PURPAN   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; ENZYMES; MANGANESE; POLYPEPTIDES; POSITIVE IONS; RNA; SKIN;

CONFORMATIONAL TRANSITIONS;

DISEASES;

ADENOSINE TRIPHOSPHATASE (CALCIUM); ASPARTIC ACID; MANGANESE; MUTANT PROTEIN; ATP2C1 PROTEIN, HUMAN; GLYCINE; MAGNESIUM;

ANIMAL CELL; ARTICLE; ATP2C1 GENE; BINDING SITE; COMPETITIVE INHIBITION; CYTOARCHITECTURE; ENZYME PHOSPHORYLATION; GENE; GENE MUTATION; GENETIC VARIABILITY; GLYCOSYLATION; HAILEY HAILEY DISEASE; KERATINOCYTE; NONHUMAN; NUCLEOTIDE SEQUENCE; PHASE TRANSITION; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN TARGETING; SARCOPLASMIC RETICULUM; SECRETORY VESICLE; ALTERNATIVE RNA SPLICING; GENETICS; HUMAN; METABOLISM; MOLECULAR GENETICS; MUTATION; PHOSPHORYLATION;

ANIMALIA; HUMAN ECHOVIRUS 1;

ALTERNATIVE SPLICING; ASPARTIC ACID; CALCIUM-TRANSPORTING ATPASES; GLYCINE; HUMANS; MAGNESIUM; MOLECULAR SEQUENCE DATA; MUTATION; PEMPHIGUS, BENIGN FAMILIAL; PHOSPHORYLATION;

EID: 0042354668     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M300509200     Document Type: Article

References (47)

1. Møller, J. V., Juul, B., and le Maire, M. (1996) Biochim. Biophys. Acta 1286, 1-51
2. Sudbrak, R., Brown, J., Dobson-Stone, C., Carter, S., Ramser, J., White, J., Healy, E., Dissanayake, M., Larrègue, M., Perrussel, M., Lehrach, H., Munro, C. S., Strachan, T., Burge, S., Hovnanian, A., and Monaco, A. P. (2000) Hum. Mol. Genet. 9, 1131-1140
3. Hu, Z., Bonifas, J. M., Beech, J., Bench, G., Shigihara, T., Ogawa, H., Ikeda, S., Mauro, T., and Epstein, E. H., Jr. (2000) Nat. Genet. 24, 61-65
4. Rudolf, H. K., Antebi, A., Fink, G. R., Buckley, C. M., Dorman, T. E., LeVitre, J., Davidow, L. S., Mao, J., and Moir, D. T. (1989) Cell 58, 133-145
5. Antebi, A., and Fink, G. R. (1992) Mol. Biol. Cell 3, 633-654
6. Lapinskas, P. J., Cunningham, K. W., Lui, X. F., Fink, G. R., and Culotta, V. C. (1995) Mol. Cell. Biol. 15, 1382-1388
7. Dürr, G., Strayle, J., Plemper, R., Elbs, S., Klee, S. K., Catty, P., Wolf, D. H., and Rudolf, H. K. (1998) Mol. Biol. Cell 9, 1149-1162
8. Cottrell, G. S., Hooper, N. M., and Turner, A. J. (2000) Biochemistry (Mosc) 39, 15121-15128
9. Hearn, A. S., Stroupe, M. E., Cabelli, D. E., Lepock, J. R., Trainer, J. A., Nick, H. S., and Silverman, D. N. (2001) Biochemistry (Mosc) 40, 12051-12058
10. Beckman, R. A., Mildvan, A. S., and Loeb, L. A. (1985) Biochemistry (Mosc) 24, 5810-5817
11. Van Baelen, K., Vanoevelen, J., Missiaen, L., Raeymaekers, L., and Wuytack, F. (2001) J. Biol. Chem. 276, 10683-10691
12. Ton, V.-K., Mandal, D., Vahadji, C., and Rao, R. (2002) J. Biol. Chem. 277, 6422-6427
13. Andersen, J. P., and Vilsen, B. (1995) FEBS Lett. 359, 101-106
14. MacLennan, D. H., Rice, W. J., and Green, N. M. (1997) J. Biol. Chem. 272, 28815-28818
15. Sorin, A., Rosas, G., and Rao, R. (1997) J. Biol. Chem. 272, 9895-9901
16. Wei, Y., Marchi, V., Wang, R., and Rao, R. (1999) Biochemistry (Mosc) 38, 14534-14541
17. Wei, Y., Chen, J., Rosas, G., Tompkins, D. A., Holt, P. A., and Rao, R. (2000) J. Biol. Chem. 275, 23927-23932
18. Mandal, D., Woolf, T. B., and Rao, R. (2000) J. Biol. Chem. 275, 23933-23938
19. Dobson-Stone, C., Fairclough, R., Dunne, E., Brown, J., Dissanayake, M., Munro, C. S., Strachan, T., Burge, S., Sudbrak, R., Monaco, A. P., and Hovnanian, A. (2002) J. Invest. Dermatol. 118, 338-343
20. Frischmeyer, P. A., and Dietz, H. C. (1999) Hum. Mol. Genet. 8, 1893-1900
21. Gutzmer, R., Mommert, S., Kiehl, P., Wittman, M., Kapp, A., and Werfel, T. (2001) J. Invest. Dermatol. 116, 926-932
22. Verboomen, H., Wuytack, F., De Smedt, H., Himpens, B., and Casteels, R. (1992) Biochem. J. 286, 591-596
23. Andersen, J. P., Vilsen, B., Leberer, E., and MacLennan, D. H. (1989) J. Biol. Chem. 264, 21018-21023
24. Dode, L., Vilsen, B., Van Baelen, K., Wuytack, F., Clausen, J. D., and Andersen, J. P. (2002) J. Biol. Chem. 277, 45579-45591
25. Missiaen, L., De Smedt, H., Parys, J.-B., and Casteels, R. (1994) J. Biol. Chem. 269, 7238-7242
26. de Meis, L., Martins, O. B., and Alves, E. W. (1980) Biochemistry (Mosc) 19, 4252-4261
27. Dode, L., De Greef, C., Mountian, I., Attard, M., Town, M. M., Casteels, R., and Wuytack, F. (1998) J. Biol. Chem. 273, 13982-13994
28. Martin, V., Bredoux, R., Corvazier, E., van Gorp, R., Kovàcs, T., Gélébart, P., and Enouf, J. (2002) J. Biol. Chem. 277, 24442-24452
29. Strehler, E. E., Strehler-Page, M.-A., Vogel, G., and Carafoli, E. (1989) Proc. Natl. Acad. Sci. U. S. A. 86, 6908-6912
30. Stauffer, T. P., Hilfiker, H., Carafoli, E., and Strehler, E. E. (1993) J. Biol. Chem. 268, 25993-26003
31. Keeton, T. P., Burk, S. E., and Shull, G. E. (1993) J. Biol. Chem. 268, 2740-2748
32. Gunteski-Hamblin, A.-M., Clarke, D. M., and Shull, G. E. (1992) Biochemistry (Mosc) 31, 7600-7608
33. Verboomen, H., Wuytack, F., Van Den Bosch, L., Mertens, L., and Casteels, R. (1994) Biochem. J. 303, 979-984
34. Lytton, J., Westlin, M., Burk, S. E., Shull, G. E., and MacLennan, D. H. (1992) J. Biol. Chem. 267, 14483-14489
35. Elwess, N. L., Filoteo, A. G., Enyedi, A., and Penniston, J. T. (1997) J. Biol. Chem. 272, 17981-17986
36. Enyedi, A., Verma, A. K., Heim, R., Adamo, A. G., Filoteo, A. G., and Strehler, E. E. (1994) J. Biol. Chem. 269, 41-43
37. Kowarski, D., Shuman, H., Somlyo, A. P., and Somlyo, A. V. (1985) J. Physiol. (Lond) 366, 153-175
38. Daiho, T., Yamasaki, K., Suzuki, H., Saino, T., and Kanazawa, T. (1999) J. Biol. Chem. 274, 23910-23915
39. Taylor, W. R., and Green, N. M. (1989) Eur. J. Biochem. 179, 241-248
40. Clarke, D. M., Loo, T. W., and MacLennan, D. H. (1990) J. Biol. Chem. 265, 22223-22227
41. Andersen, J. P., Vilsen, B., and MacLennan, D. H. (1992) J. Biol. Chem. 267, 19383-19387
42. Clarke, D. M., Loo, T. W., Inesi, G., and MacLennan, D. H. (1989) Nature 339, 476-478
43. Rice, W. J., and MacLennan, D. H. (1996) J. Biol. Chem. 271, 31412-31419
44. Vilsen, B., and Andersen, J. P. (1992) J. Biol. Chem. 267, 25739-25743
45. Toyoshima, C., Nakasako, M., Nomura, H., and Ogawa, H. (2000) Nature 405, 647-655
46. Vilsen, B., Andersen, J. P., Clarke, D. M., and MacLennan, D. H. (1989) J. Biol. Chem. 264, 21024-21030
47. de Meis, L., and Vianna, A. L. (1979) Annu. Rev. Biochem. 48, 275-292