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Open Access Articles- Top Results for SCNN1A

SCNN1A

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Identifiers
SymbolsSCNN1A ; BESC2; ENaCa; ENaCalpha; SCNEA; SCNN1
External IDsOMIM600228 MGI101782 HomoloGene811 IUPHAR: 738 ChEMBL: 1791 GeneCards: SCNN1A Gene
RNA expression pattern
File:PBB GE SCNN1A 203453 at tn.png
File:PBB GE SCNN1A 215026 x at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez633720276
EnsemblENSG00000111319ENSMUSG00000030340
UniProtP37088Q61180
RefSeq (mRNA)NM_001038NM_011324
RefSeq (protein)NP_001029NP_035454
Location (UCSC)Chr 12:
6.46 – 6.49 Mb
Chr 6:
125.32 – 125.34 Mb
PubMed search[1][2]

Amiloride-sensitive sodium channel subunit alpha is a protein that in humans is encoded by the SCNN1A gene.[1][2]

Interactions

SCNN1A has been shown to interact with:

See also

References

  1. ^ Meisler MH, Barrow LL, Canessa CM, Rossier BC (April 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. PMID 7896277. doi:10.1006/geno.1994.1599. 
  2. ^ "Entrez Gene: SCNN1A sodium channel, nonvoltage-gated 1 alpha". 
  3. ^ a b Harvey KF, Dinudom A, Cook DI, Kumar S (March 2001). "The Nedd4-like protein KIAA0439 is a potential regulator of the epithelial sodium channel". J. Biol. Chem. 276 (11): 8597–601. PMID 11244092. doi:10.1074/jbc.C000906200. 
  4. ^ Malbert-Colas L, Nicolas G, Galand C, Lecomte MC, Dhermy D (July 2003). "Identification of new partners of the epithelial sodium channel alpha subunit". C. R. Biol. 326 (7): 615–24. PMID 14556380. doi:10.1016/s1631-0691(03)00154-9. 
  5. ^ Farr TJ, Coddington-Lawson SJ, Snyder PM, McDonald FJ (February 2000). "Human Nedd4 interacts with the human epithelial Na+ channel: WW3 but not WW1 binds to Na+-channel subunits". Biochem. J. 345 Pt 3: 503–9. PMC 1220784. PMID 10642508. doi:10.1042/0264-6021:3450503. 
  6. ^ McDonald FJ, Western AH, McNeil JD, Thomas BC, Olson DR, Snyder PM (September 2002). "Ubiquitin-protein ligase WWP2 binds to and downregulates the epithelial Na(+) channel". Am. J. Physiol. Renal Physiol. 283 (3): F431–6. PMID 12167593. doi:10.1152/ajprenal.00080.2002. 
  7. ^ Boulkroun S, Ruffieux-Daidié D, Vitagliano JJ, Poirot O, Charles RP, Lagnaz D et al. (October 2008). "Vasopressin-inducible ubiquitin-specific protease 10 increases ENaC cell surface expression by deubiquitylating and stabilizing sorting nexin 3". Am. J. Physiol. Renal Physiol. 295 (4): F889–900. PMID 18632802. doi:10.1152/ajprenal.00001.2008. 
  8. ^ Raikwar NS, Thomas CP (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. 294 (5): F1157–65. PMC 2424110. PMID 18322022. doi:10.1152/ajprenal.00339.2007. 

Further reading

  • Edelheit O, Hanukoglu I, Gizewska M, Kandemir N, Tenenbaum-Rakover Y, Yurdakök 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. PMID 15853823. doi:10.1111/j.1365-2265.2005.02255.x. 
  • 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, Mattéi MG, Waldmann R, Lazdunski M 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. PMC 42924. PMID 8278374. doi:10.1073/pnas.91.1.247. 
  • Chang SS, Grunder S, Hanukoglu A, Rösler A, Mathew PM, Hanukoglu I 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. PMID 8589714. doi:10.1038/ng0396-248. 
  • Firsov D, Schild L, Gautschi I, Mérillat AM, Schneeberger E, Rossier BC (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. PMC 26411. PMID 8986818. doi:10.1073/pnas.93.26.15370. 
  • Pirozzi G, McConnell SJ, Uveges AJ, Carter JM, Sparks AB, Kay BK et al. (1997). "Identification of novel human WW domain-containing proteins by cloning of ligand targets". J. Biol. Chem. 272 (23): 14611–6. PMID 9169421. doi:10.1074/jbc.272.23.14611. 
  • Tucker JK, Tamba K, Lee YJ, Shen LL, Warnock DG, Oh Y (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, Marynen P, Bidlingmaier F (1998). "Structural organisation of the gene encoding the alpha-subunit of the human amiloride-sensitive epithelial sodium channel". Hum. Genet. 102 (5): 576–81. PMID 9654208. doi:10.1007/s004390050743. 
  • Harvey KF, Dinudom A, Komwatana P, Jolliffe CN, Day ML, Parasivam G 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. PMID 10212229. doi:10.1074/jbc.274.18.12525. 
  • 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. PMID 10404817. doi:10.1210/jc.84.7.2434. 
  • Saxena S, Quick MW, Tousson A, Oh Y, Warnock DG (1999). "Interaction of syntaxins with the amiloride-sensitive epithelial sodium channel". J. Biol. Chem. 274 (30): 20812–7. PMID 10409621. doi:10.1074/jbc.274.30.20812. 
  • Chow YH, Wang Y, Plumb J, O'Brodovich H, Hu J (1999). "Hormonal regulation and genomic organization of the human amiloride-sensitive epithelial sodium channel alpha subunit gene". Pediatr. Res. 46 (2): 208–14. PMID 10447117. doi:10.1203/00006450-199908000-00014. 
  • Schaedel C, Marthinsen L, Kristoffersson AC, Kornfält R, Nilsson KO, Orlenius B 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. PMID 10586178. doi:10.1016/S0022-3476(99)70094-6. 
  • 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. PMC 1220784. PMID 10642508. doi:10.1042/0264-6021:3450503. 
  • 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. PMID 11244092. doi:10.1074/jbc.C000906200. 
  • Mick VE, Itani OA, Loftus RW, Husted RF, Schmidt TJ, Thomas CP (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. PMID 11266509. doi:10.1210/me.15.4.575. 
  • 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. PMID 11359767. doi:10.1074/jbc.M011487200. 
  • 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. PMID 11696533. doi:10.1074/jbc.C100623200. 
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External links

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