Functional multimerization of mucolipin channel proteins

Journal of Cellular Physiology

Volumn 222, Issue 2, 2010, Pages 328-335

  Curcio Morelli, Cyntia ^a   Zhang, Peng ^a   Venugopal, Bhuvarahamurthy ^a   Charles, Florie A ^a   Browning, Marsha F ^a   Cantiello, Horacio F ^a   Slaugenhaupt, Susan A ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANION; CATION CHANNEL; LIPID; MUCOLIPIN 1; MUCOLIPIN 2; MUCOLIPIN 3; TRANSIENT RECEPTOR POTENTIAL CHANNEL M; UNCLASSIFIED DRUG; HYBRID PROTEIN; MCOLN1 PROTEIN, HUMAN; MCOLN2 PROTEIN, HUMAN; MCOLN3 PROTEIN, HUMAN; TRANSIENT RECEPTOR POTENTIAL CHANNEL;

ANIMAL CELL; ARTICLE; CONTROLLED STUDY; ELECTROPHYSIOLOGY; GENE MUTATION; IMMUNOCYTOCHEMISTRY; IMMUNOPRECIPITATION; IN VITRO STUDY; LIPID BILAYER; MUCOLIPIDOSIS; NONHUMAN; POLYMERIZATION; PRIORITY JOURNAL; PROTEIN LOCALIZATION; WESTERN BLOTTING; ANIMAL; CELL MEMBRANE PERMEABILITY; CELL MEMBRANE POTENTIAL; CHO CELL; CRICETULUS; GENETIC TRANSFECTION; GENETICS; HAMSTER; HUMAN; IMMUNOHISTOCHEMISTRY; METABOLISM; MUTATION; PROTEIN BINDING; PROTEIN MULTIMERIZATION;

ANIMALS; BLOTTING, WESTERN; CELL MEMBRANE PERMEABILITY; CHO CELLS; CRICETINAE; CRICETULUS; HUMANS; IMMUNOHISTOCHEMISTRY; IMMUNOPRECIPITATION; MEMBRANE POTENTIALS; MUTATION; PROTEIN BINDING; PROTEIN MULTIMERIZATION; RECOMBINANT FUSION PROTEINS; TRANSFECTION; TRANSIENT RECEPTOR POTENTIAL CHANNELS; TRPM CATION CHANNELS;

EID: 73349119121     PISSN: 00219541     EISSN: None     Source Type: Journal    
DOI: 10.1002/jcp.21956     Document Type: Article

References (27)

1. Altarescu G, Sun M, Moore DF, Smith JA, Wiggs EA, Solomon BI, Patronas NJ, Frei KP, Gupta S, Kaneski CR, Quarrell OW, Slaugenhaupt SA, Goldin E, Schiffmann R. 2002. The neurogenetics of mucolipidosis type IV. Neurology 59:306-313.
2. Bach G, Webb MB, Bargal R, Zeigler M, Ekstein J. 2005. The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1mutations. Hum Mutat 26:591.
3. Bargal R, Avidan N, Ben-Asher E, Olender Z, Zeigler M, Frumkin A, Raas-Rothschild A, Glusman G, Lancet D, Bach G. 2000. Identification of the gene causing mucolipidosis type IV. Nat Genet 26:118-123.
4. Cantiello HF, Montalbetti N, Goldmann WH, Raychowdhury MK, Gonzalez-Perrett S, Timpanaro GA, Chasan B. 2005. Cation channel activity of mucolipin-1: The effect of calcium. Pflugers Arch 451:304-312.
5. Di Palma F, Belyantseva IA, Kim HJ, Vogt TF, Kachar B, Noben-Trauth K. 2002. Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice. Proc Natl Acad Sci USA 99:14994-14999.
6. Dobrovolny R, Liskova P, Ledvinova J, Poupetova H, Asfaw B, Filipec M, Jirsova K, Kraus J, Elleder M. 2007. Mucolipidosis IV: Report of a case with ocular restricted phenotype caused by leaky splice mutation. Am J Ophthalmol 143:663-671.
7. Goldin E, Stahl S, Cooney AM, Kaneski CR, Gupta S, Brady RO, Ellis JR, Schiffmann R. 2004. Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV. Hum Mutat 24:460-465.
8. Grimm C, Cuajungco MP, van Aken AF, Schnee M, Jors S, Kros CJ, Ricci AJ, Heller S. 2007. A helix-breaking mutation in TRPML3 leads to constitutive activity underlying deafness in the varitint-waddler mouse. Proc Natl Acad Sci USA 104:19583-19588.
9. Karacsonyi C, Miguel AS, Puertollano R. 2007. Mucolipin-2 localizes to the Arf6-associated pathway and regulates recycling of GPI-APs. Traffic 8:1404-1414.
10. Kim HJ, Li Q, Tjon-Kon-Sang S, So I, Kiselyov K, Muallem S. 2007. Gain-of-function mutation in TRPML3 causes the mouse varitint-waddler phenotype. J Biol Chem 282:36138-36142.
11. Kiselyov K, Chen J, Rbaibi Y, Oberdick D, Tjon-Kon-Sang S, Shcheynikov N, Muallem S, Soyombo A. 2005. TRP-ML1 is a lysosomal monovalent cation channel that undergoes proteolytic cleavage. J Biol Chem 280:43218-43223.
12. LaPlante JM, Falardeau J, Sun M, Kanazirska M, Brown EM, Slaugenhaupt SA, Vassilev PM. 2002. Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway. FEBS Lett 532:183-187.
13. Miedel MT, Weixel KM, Bruns JR, Traub LM, Weisz OA. 2006. Posttranslational cleavage and adaptor protein complex-dependent trafficking of mucolipin-1. J Biol Chem 281:12751-12759.
14. Nagata K, Zheng L, Madathany T, Castiglioni AJ, Bartles JR, Garcia-Anoveros J. 2008. The varitint-waddler (Va) deafness mutation in TRPML3 generates constitutive, inward rectifying currents and causes cell degeneration. Proc Natl Acad Sci USA 105:353-358.
15. Raychowdhury MK, Gonzalez-Perrett S, Montalbetti N, Timpanaro GA, Chasan B, Goldmann WH, Stahl S, Cooney A, Goldin E, Cantiello HF. 2004. Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel. Hum Mol Genet 13:617-627.
16. Slaugenhaupt SA. 2002. The molecular basis of mucolipidosis type IV. Curr Mol Med 2:445-450.
17. Slaugenhaupt SA, Acierno JS, Jr., Helbling LA, Bove C, Goldin E, Bach G, Schiffmann R, Gusella JF. 1999. Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes. Am J Hum Genet 65:773-778.
18. Snedecor GW, Cochran WG. 1973. Statistical methods. Ames, IA: Iowa State University Press.
19. Soyombo AA, Tjon-Kon-Sang S, Rbaibi Y, Bashllari E, Bisceglia J, Muallem S, Kiselyov K. 2006. TRP-ML1 regulates lysosomal pH and acidic lysosomal lipid hydrolytic activity. J Biol Chem 281:7294-7301.
20. Sun M, Goldin E, Stahl S, Falardeau JL, Kennedy JC, Acierno JS, Jr., Bove C, Kaneski CR, Nagle J, Bromley MC, Colman M, Schiffmann R, Slaugenhaupt SA. 2000. Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. Hum Mol Genet 9:2471-2478.
21. Venkatachalam K, Montell C. 2007. TRP channels. Annu Rev Biochem 76:387-417.
22. Venkatachalam K, Hofmann T, Montell C. 2006. Lysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1. J Biol Chem 281:17517-17527.
23. Venugopal B, Browning MF, Curcio-Morelli C, Varro A, Michaud N, Nanthakumar N, Walkley SU, Pickel J, Slaugenhaupt SA. 2007. Neurologic, gastric, and opthalmologic pathologies in a Murine Model of mucolipidosis type IV. Am J Hum Genet 81:1070-1083.
24. Vergarajauregui S, Puertollano R. 2006. Two di-leucine motifs regulate trafficking of mucolipin-1 to lysosomes. Traffic 7:337-353.
25. Vergarajauregui S, Oberdick R, Kiselyov K, Puertollano R. 2008. Mucolipin 1 channel activity is regulated by protein kinase A-mediated phosphorylation. Biochem J 410: 417-425.
26. Wang ZH, Zeng B, Pastores GM, Raksadawan N, Ong E, Kolodny EH. 2002. Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV. Genet Test 5:87-92.
27. Xu H, Delling M, Li L, Dong X, Clapham DE. 2007. Activating mutation in a mucolipin transient receptor potential channel leads to melanocyte loss in varitint-waddler mice. Proc Natl Acad Sci USA 104:18321-18326.