SCNN1A
Sodium channel, nonvoltage-gated 1 alpha | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Identifiers | |||||||||||
Symbols | SCNN1A ; ENaCa; ENaCalpha; FLJ21883; SCNEA; SCNN1 | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 811 | ||||||||||
| |||||||||||
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 | |||||||||||
Template:GNF Ortholog box | |||||||||||
Species | Human | Mouse | |||||||||
Entrez | n/a | n/a | |||||||||
Ensembl | n/a | n/a | |||||||||
UniProt | n/a | n/a | |||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||
RefSeq (protein) | n/a | n/a | |||||||||
Location (UCSC) | n/a | n/a | |||||||||
PubMed search | n/a | n/a |
Sodium channel, nonvoltage-gated 1 alpha, also known as SCNN1A, is a human gene.[1]
References
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.
This protein-related article is a stub. You can help Wikipedia by expanding it. |