SCNN1A

From Wikipedia, the free encyclopedia

Sodium channel, nonvoltage-gated 1 alpha

Identifiers

SCNN1A; ENaCa; ENaCalpha; FLJ21883; SCNEA; SCNN1

External IDs

OMIM: 600228 MGI: 101782 HomoloGene: 811

Gene ontology
Molecular Function:	• ion channel activity • protein binding • amiloride-sensitive sodium channel activity • sodium ion binding
Cellular Component:	• membrane fraction • integral to plasma membrane • membrane
Biological Process:	• ion transport • sodium ion transport • excretion • response to stimulus

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

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]

[edit] References

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

[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.
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.