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Scnn1a

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Title: Scnn1a  
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Subject: Ubiquitin C, Channelopathy, GJB4, Q-type calcium channel, Erythrokeratodermia variabilis
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Scnn1a

Sodium channel, non-voltage-gated 1 alpha subunit
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols  ; BESC2; ENaCa; ENaCalpha; SCNEA; SCNN1
External IDs IUPHAR: ChEMBL: GeneCards:
RNA expression pattern
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

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


Contents

  • See also 1
  • Interactions 2
  • References 3
  • Further reading 4
  • External links 5

See also

Interactions

SCNN1A has been shown to interact with NEDD4L,[3][4] Ubiquitin C[5][6] and NEDD4.[3][7][8]

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.  
  2. ^ "Entrez Gene: SCNN1A sodium channel, nonvoltage-gated 1 alpha". 
  3. ^ a b Harvey, K F; Dinudom A; Cook D I; Kumar S (March 2001). "The Nedd4-like protein KIAA0439 is a potential regulator of the epithelial sodium channel". J. Biol. Chem. (United States) 276 (11): 8597–601.  
  4. ^ Malbert-Colas, Laurence; Nicolas Gaël; Galand Colette; Lecomte Marie-Christine; Dhermy Didier (July 2003). "Identification of new partners of the epithelial sodium channel alpha subunit". C. R. Biol. (France) 326 (7): 615–24.  
  5. ^ Boulkroun, Sheerazed; Ruffieux-Daidié Dorothée, Vitagliano Jean-Jacques, Poirot Olivier, Charles Roch-Philippe, Lagnaz Dagmara, Firsov Dmitri, Kellenberger Stephan, Staub Olivier (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. (United States) 295 (4): F889–900.  
  6. ^ 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.  
  7. ^ Farr, T J; Coddington-Lawson S J; Snyder P M; McDonald F J (February 2000). -channel subunits"+ channel: WW3 but not WW1 binds to Na+"Human Nedd4 interacts with the human epithelial Na. Biochem. J. (England). 345 Pt 3 (3): 503–9.  
  8. ^ McDonald, Fiona J; Western Andrea H; McNeil John D; Thomas Brittany C; Olson Diane R; Snyder Peter M (September 2002). "Ubiquitin-protein ligase WWP2 binds to and downregulates the epithelial Na(+) channel". Am. J. Physiol. Renal Physiol. (United States) 283 (3): F431–6.  

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.  
  • 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.  
  • Voilley N, Lingueglia E, Champigny G, et al. (1994). channel: biophysical properties, pharmacology, ontogenesis, and molecular cloning"+"The lung amiloride-sensitive Na. Proc. Natl. Acad. Sci. U.S.A. 91 (1): 247–51.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • Farr TJ, Coddington-Lawson SJ, Snyder PM, McDonald FJ (2000). -channel subunits"+ channel: WW3 but not WW1 binds to Na+"Human Nedd4 interacts with the human epithelial Na. Biochem. J. 345 Pt 3 (3): 503–9.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  

External links


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