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Sodium channel, nonvoltage-gated 1, beta (Liddle syndrome)
Identifiers
Symbols SCNN1B; ENaCb; ENaCbeta; SCNEB
External IDs OMIM600760 MGI104696 HomoloGene284 GeneCards: SCNN1B Gene
RNA expression pattern
PBB GE SCNN1B 205464 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6338 20277
Ensembl ENSG00000168447 ENSMUSG00000030873
UniProt P51168 Q3TP51
RefSeq (mRNA) NM_000336 NM_011325
RefSeq (protein) NP_000327 NP_035455
Location (UCSC) Chr 16:
23.22 - 23.3 Mb
Chr 7:
121.66 - 121.71 Mb
PubMed search [1] [2]

Amiloride-sensitive sodium channel subunit beta is a protein that in humans is encoded by the SCNN1B gene.[1]

Contents

See also

Interactions

SCNN1B has been shown to interact with WWP2[2][3] and NEDD4.[4][2][3]

References

  1. ^ "Entrez Gene: SCNN1B sodium channel, nonvoltage-gated 1, beta (Liddle syndrome)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6338.  
  2. ^ a b McDonald, Fiona J; Western Andrea H, McNeil John D, Thomas Brittany C, Olson Diane R, Snyder Peter M (Sep. 2002). "Ubiquitin-protein ligase WWP2 binds to and downregulates the epithelial Na(+) channel". Am. J. Physiol. Renal Physiol. (United States) 283 (3): F431-6. doi:10.1152/ajprenal.00080.2002. ISSN 0363-6127. PMID 12167593.  
  3. ^ a b Harvey, K F; Dinudom A, Cook D I, Kumar S (Mar. 2001). "The Nedd4-like protein KIAA0439 is a potential regulator of the epithelial sodium channel". J. Biol. Chem. (United States) 276 (11): 8597–601. doi:10.1074/jbc.C000906200. ISSN 0021-9258. PMID 11244092.  
  4. ^ Farr, T J; Coddington-Lawson S J, Snyder P M, McDonald F J (Feb. 2000). "Human Nedd4 interacts with the human epithelial Na+ channel: WW3 but not WW1 binds to Na+-channel subunits". Biochem. J. (ENGLAND) 345 Pt 3: 503–9. ISSN 0264-6021. PMID 10642508.  

Further reading

  • Alvarez de la Rosa D, Canessa CM, Fyfe GK, Zhang P (2000). "Structure and regulation of amiloride-sensitive sodium channels.". Annu. Rev. Physiol. 62: 573–94. doi:10.1146/annurev.physiol.62.1.573. PMID 10845103.  
  • Rossier BC, Pradervand S, Schild L, Hummler E (2002). "Epithelial sodium channel and the control of sodium balance: interaction between genetic and environmental factors.". Annu. Rev. Physiol. 64: 877–97. doi:10.1146/annurev.physiol.64.082101.143243. PMID 11826291.  
  • Peters KW, Qi J, Johnson JP, et al. (2002). "Role of snare proteins in CFTR and ENaC trafficking.". Pflugers Arch. 443 Suppl 1: S65–9. doi:10.1007/s004240100647. PMID 11845306.  
  • 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.  
  • Voilley N, Bassilana F, Mignon C, et al. (1996). "Cloning, chromosomal localization, and physical linkage of the beta and gamma subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel.". Genomics 28 (3): 560–5. doi:10.1006/geno.1995.1188. PMID 7490094.  
  • Waldmann R, Champigny G, Bassilana F, et al. (1996). "Molecular cloning and functional expression of a novel amiloride-sensitive Na+ channel.". J. Biol. Chem. 270 (46): 27411–4. PMID 7499195.  
  • Hansson JH, Nelson-Williams C, Suzuki H, et al. (1995). "Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome.". Nat. Genet. 11 (1): 76–82. doi:10.1038/ng0995-76. PMID 7550319.  
  • McDonald FJ, Price MP, Snyder PM, Welsh MJ (1995). "Cloning and expression of the beta- and gamma-subunits of the human epithelial sodium channel.". Am. J. Physiol. 268 (5 Pt 1): C1157–63. PMID 7762608.  
  • Shimkets RA, Warnock DG, Bositis CM, et al. (1994). "Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel.". Cell 79 (3): 407–14. PMID 7954808.  
  • Snyder PM, Price MP, McDonald FJ, et al. (1996). "Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na+ channel.". Cell 83 (6): 969–78. PMID 8521520.  
  • Hansson JH, Schild L, Lu Y, et al. (1996). "A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity.". Proc. Natl. Acad. Sci. U.S.A. 92 (25): 11495–9. PMID 8524790.  
  • 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.  
  • Tamura H, Schild L, Enomoto N, et al. (1996). "Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene.". J. Clin. Invest. 97 (7): 1780–4. PMID 8601645.  
  • 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.  
  • Gründer S, Firsov D, Chang SS, et al. (1997). "A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel.". EMBO J. 16 (5): 899–907. doi:10.1093/emboj/16.5.899. PMID 9118951.  
  • 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.  
  • Inoue J, Iwaoka T, Tokunaga H, et al. (1998). "A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel.". J. Clin. Endocrinol. Metab. 83 (6): 2210–3. PMID 9626162.  
  • Persu A, Barbry P, Bassilana F, et al. (1998). "Genetic analysis of the beta subunit of the epithelial Na+ channel in essential hypertension.". Hypertension 32 (1): 129–37. PMID 9674649.  
  • Uehara Y, Sasaguri M, Kinoshita A, et al. (1998). "Genetic analysis of the epithelial sodium channel in Liddle's syndrome.". J. Hypertens. 16 (8): 1131–5. PMID 9794716.  
  • Saxena A, Hanukoglu I, Strautnieks SS, et al. (1998). "Gene structure of the human amiloride-sensitive epithelial sodium channel beta subunit.". Biochem. Biophys. Res. Commun. 252 (1): 208–13. doi:10.1006/bbrc.1998.9625. PMID 9813171.  

External links

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