SCNN1A
From Wikipedia, the free encyclopedia
Amiloride-sensitive sodium channel subunit alpha is a protein that in humans is encoded by the SCNN1A gene.[1][2]
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[edit] See also
[edit] Interactions
SCNN1A has been shown to interact with NEDD4L,[3][4] Ubiquitin C[5][6] and NEDD4.[3][7][8]
[edit] References
- ^ Meisler MH, Barrow LL, Canessa CM, Rossier BC (Apr 1995). "SCNN1, an epithelial cell sodium channel gene in the conserved linkage group on mouse chromosome 6 and human chromosome 12". Genomics 24 (1): 185–6. doi:10.1006/geno.1994.1599. PMID 7896277.
- ^ "Entrez Gene: SCNN1A sodium channel, nonvoltage-gated 1 alpha". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6337.
- ^ a b Harvey, K F; Dinudom A, Cook D I, Kumar S (Mar. 2001). "The Nedd4-like protein KIAA0439 is a potential regulator of the epithelial sodium channel". J. Biol. Chem. (United States) 276 (11): 8597–601. doi:10.1074/jbc.C000906200. ISSN 0021-9258. PMID 11244092.
- ^ Malbert-Colas, Laurence; Nicolas Gaël, Galand Colette, Lecomte Marie-Christine, Dhermy Didier (Jul. 2003). "Identification of new partners of the epithelial sodium channel alpha subunit". C. R. Biol. (France) 326 (7): 615–24. ISSN 1631-0691. PMID 14556380.
- ^ Boulkroun, Sheerazed; Ruffieux-Daidié Dorothée, Vitagliano Jean-Jacques, Poirot Olivier, Charles Roch-Philippe, Lagnaz Dagmara, Firsov Dmitri, Kellenberger Stephan, Staub Olivier (Oct. 2008). "Vasopressin-inducible ubiquitin-specific protease 10 increases ENaC cell surface expression by deubiquitylating and stabilizing sorting nexin 3". Am. J. Physiol. Renal Physiol. (United States) 295 (4): F889–900. doi:10.1152/ajprenal.00001.2008. ISSN 0363-6127. PMID 18632802.
- ^ Raikwar, Nandita S; Thomas Christie P (May. 2008). "Nedd4-2 isoforms ubiquitinate individual epithelial sodium channel subunits and reduce surface expression and function of the epithelial sodium channel". Am. J. Physiol. Renal Physiol. (United States) 294 (5): F1157–65. doi:10.1152/ajprenal.00339.2007. ISSN 0363-6127. PMC 2424110. PMID 18322022. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2424110.
- ^ Farr, T J; Coddington-Lawson S J, Snyder P M, McDonald F J (Feb. 2000). "Human Nedd4 interacts with the human epithelial Na+ channel: WW3 but not WW1 binds to Na+-channel subunits". Biochem. J. (ENGLAND) 345 Pt 3 (3): 503–9. doi:10.1042/0264-6021:3450503. ISSN 0264-6021. PMC 1220784. PMID 10642508. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1220784.
- ^ McDonald, Fiona J; Western Andrea H, McNeil John D, Thomas Brittany C, Olson Diane R, Snyder Peter M (Sep. 2002). "Ubiquitin-protein ligase WWP2 binds to and downregulates the epithelial Na(+) channel". Am. J. Physiol. Renal Physiol. (United States) 283 (3): F431–6. doi:10.1152/ajprenal.00080.2002. ISSN 0363-6127. PMID 12167593.
[edit] Further reading
- Edelheit O, Hanukoglu I, Gizewska M, et al. (2005). "Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism". Clin. Endocrinol. (Oxf) 62 (5): 547–53. doi:10.1111/j.1365-2265.2005.02255.x. PMID 15853823.
- McDonald FJ, Snyder PM, McCray PB, Welsh MJ (1994). "Cloning, expression, and tissue distribution of a human amiloride-sensitive Na+ channel". Am. J. Physiol. 266 (6 Pt 1): L728–34. PMID 8023962.
- Voilley N, Lingueglia E, Champigny G, et al. (1994). "The lung amiloride-sensitive Na+ channel: biophysical properties, pharmacology, ontogenesis, and molecular cloning". Proc. Natl. Acad. Sci. U.S.A. 91 (1): 247–51. doi:10.1073/pnas.91.1.247. PMC 42924. PMID 8278374. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=42924.
- Chang SS, Grunder S, Hanukoglu A, et al. (1996). "Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1". Nat. Genet. 12 (3): 248–53. doi:10.1038/ng0396-248. PMID 8589714.
- Firsov D, Schild L, Gautschi I, et al. (1997). "Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: A quantitative approach". Proc. Natl. Acad. Sci. U.S.A. 93 (26): 15370–5. doi:10.1073/pnas.93.26.15370. PMC 26411. PMID 8986818. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=26411.
- Pirozzi G, McConnell SJ, Uveges AJ, et al. (1997). "Identification of novel human WW domain-containing proteins by cloning of ligand targets". J. Biol. Chem. 272 (23): 14611–6. doi:10.1074/jbc.272.23.14611. PMID 9169421.
- Tucker JK, Tamba K, Lee YJ, et al. (1998). "Cloning and functional studies of splice variants of the alpha-subunit of the amiloride-sensitive Na+ channel". Am. J. Physiol. 274 (4 Pt 1): C1081–9. PMID 9575806.
- Thomas CP, Auerbach S, Stokes JB, Volk KA (1998). "5' heterogeneity in epithelial sodium channel alpha-subunit mRNA leads to distinct NH2-terminal variant proteins". Am. J. Physiol. 274 (5 Pt 1): C1312–23. PMID 9612219.
- Ludwig M, Bolkenius U, Wickert L, et al. (1998). "Structural organisation of the gene encoding the alpha-subunit of the human amiloride-sensitive epithelial sodium channel". Hum. Genet. 102 (5): 576–81. doi:10.1007/s004390050743. PMID 9654208.
- Harvey KF, Dinudom A, Komwatana P, et al. (1999). "All three WW domains of murine Nedd4 are involved in the regulation of epithelial sodium channels by intracellular Na+". J. Biol. Chem. 274 (18): 12525–30. doi:10.1074/jbc.274.18.12525. PMID 10212229.
- Arai K, Zachman K, Shibasaki T, Chrousos GP (1999). "Polymorphisms of amiloride-sensitive sodium channel subunits in five sporadic cases of pseudohypoaldosteronism: do they have pathologic potential?". J. Clin. Endocrinol. Metab. 84 (7): 2434–7. doi:10.1210/jc.84.7.2434. PMID 10404817.
- Saxena S, Quick MW, Tousson A, et al. (1999). "Interaction of syntaxins with the amiloride-sensitive epithelial sodium channel". J. Biol. Chem. 274 (30): 20812–7. doi:10.1074/jbc.274.30.20812. PMID 10409621.
- Chow YH, Wang Y, Plumb J, et al. (1999). "Hormonal regulation and genomic organization of the human amiloride-sensitive epithelial sodium channel alpha subunit gene". Pediatr. Res. 46 (2): 208–14. doi:10.1203/00006450-199908000-00014. PMID 10447117.
- Schaedel C, Marthinsen L, Kristoffersson AC, et al. (1999). "Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel". J. Pediatr. 135 (6): 739–45. doi:10.1016/S0022-3476(99)70094-6. PMID 10586178.
- Farr TJ, Coddington-Lawson SJ, Snyder PM, McDonald FJ (2000). "Human Nedd4 interacts with the human epithelial Na+ channel: WW3 but not WW1 binds to Na+-channel subunits". Biochem. J. 345 Pt 3 (3): 503–9. doi:10.1042/0264-6021:3450503. PMC 1220784. PMID 10642508. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1220784.
- Harvey KF, Dinudom A, Cook DI, Kumar S (2001). "The Nedd4-like protein KIAA0439 is a potential regulator of the epithelial sodium channel". J. Biol. Chem. 276 (11): 8597–601. doi:10.1074/jbc.C000906200. PMID 11244092.
- Mick VE, Itani OA, Loftus RW, et al. (2001). "The alpha-subunit of the epithelial sodium channel is an aldosterone-induced transcript in mammalian collecting ducts, and this transcriptional response is mediated via distinct cis-elements in the 5'-flanking region of the gene". Mol. Endocrinol. 15 (4): 575–88. doi:10.1210/me.15.4.575. PMID 11266509.
- Snyder PM, Olson DR, McDonald FJ, Bucher DB (2001). "Multiple WW domains, but not the C2 domain, are required for inhibition of the epithelial Na+ channel by human Nedd4". J. Biol. Chem. 276 (30): 28321–6. doi:10.1074/jbc.M011487200. PMID 11359767.
- Snyder PM, Olson DR, Thomas BC (2002). "Serum and glucocorticoid-regulated kinase modulates Nedd4-2-mediated inhibition of the epithelial Na+ channel". J. Biol. Chem. 277 (1): 5–8. doi:10.1074/jbc.C100623200. PMID 11696533.
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