SCNN1A

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Sodium channel, nonvoltage-gated 1 alpha
Identifiers
Symbols SCNN1A; ENaCa; ENaCalpha; FLJ21883; SCNEA; SCNN1
External IDs OMIM: 600228 MGI: 101782 HomoloGene: 811
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 6337 20276
Ensembl ENSG00000111319 ENSMUSG00000030340
Uniprot P37088 Q3USG4
Refseq NM_001038 (mRNA)
NP_001029 (protein)		 XM_982260 (mRNA)
XP_987354 (protein)
Location Chr 12: 6.33 - 6.35 Mb Chr 6: 125.29 - 125.31 Mb
Pubmed search [1] [2]

Sodium channel, nonvoltage-gated 1 alpha, also known as SCNN1A, is a human gene.[1]


Contents

See also

References

  1. ^ "Entrez Gene: SCNN1A sodium channel, nonvoltage-gated 1 alpha".

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. 
  • Meisler MH, Barrow LL, Canessa CM, Rossier BC (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. 
  • 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. PMID 8278374. 
  • 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. PMID 8986818. 
  • 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. 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. 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. 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. 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. 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. 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. 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: 503–9. 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, 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. 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

 This article on a gene on chromosome 12 is a stub. You can help Wikipedia by expanding it.
v • d • e
Membrane transport protein: ion channels
Ca2+: Calcium channel
L-type/Cavα (1.1, 1.2, 1.3, 1.4) • N-type/Cavα2.2 • P-type/Cavα(2.1) • Q-type/Cavα2.1 • R-type/Cavα2.3 • T-type/Cavα(3.2)
α2δ-subunits (1, 2) • β-subunits (β1, β2, β3, β4) • γ-subunits (γ1, γ2, γ3, γ4)
Cation channels of sperm • Two-pore channel (1, 2)
Ligand-gated
Na+: Sodium channel
Navα (1.1, 1.2, 1.3, 1.4, 1.5, 1.6, 1.7, 1.8, 1.9, 7A) • Navβ (1, 2, 3, 4)
Other
K+: Potassium channel
Kvα (1-6) (1.1, 1.2, 1.3, 1.4, 1.5, 1.6, 1.7, 1.10, 2.1, 2.2, 3.1, 3.2, 3.3, 3.4, 4.1, 4.2, 4.3, 5.1, 6.1, 6.2, 6.3, 6.4)
Kvα (7-12) (7.1, 7.2, 7.3, 7.4, 7.5, 8.1, 8.2, 9.1, 9.2, 9.3, 10.1, 10.2, 11.1/hERG, 11.2, 11.3, 12.1, 12.2, 12.3)
Kvβ (1, 2, 3) • KCNIP (1, 2, 3, 4) • minK/ISK • MiRP (1, 2, 3) • Shaker gene
Kir (1.1, 2.1, 2.2, 2.3, 2.4) • GIRK/Kir (3.1, 3.2, 3.3, 3.4) • Kir (4.1, 4.2, 5.1, 6.1, 6.2, 7.1)
K2P (1, 2, 3, 4, 5, 6, 7, 9, 10, 12, 13, 15, 16, 17, 18)
M+: TRP cation channel
TRPA (1) • TRPC (1, 2, 3, 4, 4AP, 5, 6, 7) • TRPM (1, 2, 3, 4, 5, 6, 7, 8) • TRPML (1, 2, 3) • TRPP (1, 2) • TRPV (1, 2, 3, 4, 5, 6)
Cl-: Chloride channel
CFTR • CLCA (1, 2, 3, 4) • CLCN (1, 2, 3, 4, 5, 6, 7, KA, KB) • CLIC (1, 2, 3, 4, 5, 6, L1) • CLNS (1A, 1B)
Cyclic nucleotide-gated
α1, α2, α3, α4, β1, β3, H1, H2, H3, H4
Porin
Other/general

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  • This page was last modified on 13 July 2008, at 12:20.

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