SCNN1A

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Sodium channel, non-voltage-gated 1 alpha subunit
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols SCNN1A ; BESC2; ENaCa; ENaCalpha; SCNEA; SCNN1
External IDs OMIM600228 MGI101782 HomoloGene811 IUPHAR: ENaC α ChEMBL: 1791 GeneCards: SCNN1A Gene
RNA expression pattern
PBB GE SCNN1A 203453 at tn.png
PBB GE SCNN1A 215026 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6337 20276
Ensembl ENSG00000111319 ENSMUSG00000030340
UniProt P37088 Q61180
RefSeq (mRNA) NM_001038 NM_011324
RefSeq (protein) NP_001029 NP_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[edit]

SCNN1A has been shown to interact with:

See also[edit]

References[edit]

  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. doi:10.1006/geno.1994.1599. PMID 7896277. 
  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. doi:10.1074/jbc.C000906200. PMID 11244092. 
  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. doi:10.1016/s1631-0691(03)00154-9. PMID 14556380. 
  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. doi:10.1042/0264-6021:3450503. PMC 1220784. PMID 10642508. 
  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. doi:10.1152/ajprenal.00080.2002. PMID 12167593. 
  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. doi:10.1152/ajprenal.00001.2008. PMID 18632802.  Vancouver style error (help)
  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. doi:10.1152/ajprenal.00339.2007. PMC 2424110. PMID 18322022. 

Further reading[edit]

  • 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. doi:10.1111/j.1365-2265.2005.02255.x. PMID 15853823.  Vancouver style error (help)
  • 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. doi:10.1073/pnas.91.1.247. PMC 42924. PMID 8278374.  Vancouver style error (help)
  • 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. doi:10.1038/ng0396-248. PMID 8589714.  Vancouver style error (help)
  • 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. doi:10.1073/pnas.93.26.15370. PMC 26411. PMID 8986818.  Vancouver style error (help)
  • 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. doi:10.1074/jbc.272.23.14611. PMID 9169421. 
  • 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. doi:10.1007/s004390050743. PMID 9654208. 
  • 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. 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, Oh Y, Warnock DG (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, 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. doi:10.1203/00006450-199908000-00014. PMID 10447117. 
  • 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. doi:10.1016/S0022-3476(99)70094-6. PMID 10586178.  Vancouver style error (help)
  • 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. 
  • 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, 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. 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. 

External links[edit]