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Scnn1b

 

Scnn1b

Sodium channel, non-voltage-gated 1, beta subunit
Identifiers
Symbols  ; BESC1; ENaCb; ENaCbeta; SCNEB
External IDs IUPHAR: ChEMBL: GeneCards:
RNA expression pattern
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

Amiloride-sensitive sodium channel beta subunit is one of the three subunits that form the Epithelial sodium channel. In humans this protein is encoded by the SCNN1B gene.[1]


Contents

  • Gene and protein structure 1
  • Interactions 2
  • References 3
  • Further reading 4
  • External links 5

Gene and protein structure

In the human genome the gene encoding for the beta subunit of ENaC includes 13 exons. Exons 2-13 include the coding region of the gene. The location of the introns in all three genes coding for the three subunits is strictly conserved. The protein sequences of the three subunits show 26-30% sequence identity. [2]

Interactions

SCNN1B has been shown to interact with WWP2[3][4] and NEDD4.[3][4][5]

References

  1. ^ "Entrez Gene: SCNN1B sodium channel, nonvoltage-gated 1, beta (Liddle syndrome)". 
  2. ^ Saxena, A.; Hanukoglu, I.; Strautnieks, SS.; Thompson, RJ.; Gardiner, RM.; Hanukoglu, A. (Nov 1998). "Gene structure of the human amiloride-sensitive epithelial sodium channel beta subunit.". Biochem Biophys Res Commun 252 (1): 208–13.  
  3. ^ a b McDonald, Fiona J; Western Andrea H; McNeil John D; Thomas Brittany C; Olson Diane R; Snyder Peter M (September 2002). "Ubiquitin-protein ligase WWP2 binds to and downregulates the epithelial Na(+) channel". Am. J. Physiol. Renal Physiol. (United States) 283 (3): F431–6.  
  4. ^ a b Harvey, K F; Dinudom A; Cook D I; Kumar S (March 2001). "The Nedd4-like protein KIAA0439 is a potential regulator of the epithelial sodium channel". J. Biol. Chem. (United States) 276 (11): 8597–601.  
  5. ^ Farr, T J; Coddington-Lawson S J; Snyder P M; McDonald F J (February 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 (3): 503–9.  

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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  

External links


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