SCN1B

SCN1B

Sodium channel, voltage-gated, type I, beta subunit
Identifiers
Symbols  ; ATFB13; BRGDA5; GEFSP1
External IDs ChEMBL: GeneCards:
RNA expression pattern
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

Sodium channel subunit beta-1 is a protein that in humans is encoded by the SCN1B gene.[1][2] Voltage-gated sodium channels are essential for the generation and propagation of action potentials in striated muscle and neuronal tissues. Biochemically, they consist of a large alpha subunit and 1 or 2 smaller beta subunits, such as SCN1B. The alpha subunit alone can exhibit all the functional attributes of a voltage-gated Na+ channel, but requires a beta-1 subunit for normal inactivation kinetics.[supplied by OMIM][2]

Contents

  • Clinical significance 1
  • See also 2
  • References 3
  • Further reading 4
  • External links 5

Clinical significance

Mutation in the SCN1B gene are associated with Brugada syndrome.

See also

References

  1. ^ McClatchey AI, Cannon SC, Slaugenhaupt SA, Gusella JF (Sep 1993). "The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain". Hum Mol Genet 2 (6): 745–9.  
  2. ^ a b "Entrez Gene: SCN1B sodium channel, voltage-gated, type I, beta". 

Further reading

  • Hartshorne RP, Catterall WA (1984). "The sodium channel from rat brain. Purification and subunit composition.". J. Biol. Chem. 259 (3): 1667–75.  
  • Makita N, Sloan-Brown K, Weghuis DO, et al. (1995). "Genomic organization and chromosomal assignment of the human voltage-gated Na+ channel beta 1 subunit gene (SCN1B).". Genomics 23 (3): 628–34.  
  • Makita N, Bennett PB, George AL (1994). "Voltage-gated Na+ channel beta 1 subunit mRNA expressed in adult human skeletal muscle, heart, and brain is encoded by a single gene.". J. Biol. Chem. 269 (10): 7571–8.  
  • Wallace RH, Wang DW, Singh R, et al. (1998). "Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.". Nat. Genet. 19 (4): 366–70.  
  • Ratcliffe CF, Westenbroek RE, Curtis R, Catterall WA (2001). "Sodium channel beta1 and beta3 subunits associate with neurofascin through their extracellular immunoglobulin-like domain.". J. Cell Biol. 154 (2): 427–34.  
  • Fahmi AI, Patel M, Stevens EB, et al. (2002). "The sodium channel beta-subunit SCN3b modulates the kinetics of SCN5a and is expressed heterogeneously in sheep heart.". J. Physiol. (Lond.) 537 (Pt 3): 693–700.  
  • Malhotra JD, Koopmann MC, Kazen-Gillespie KA, et al. (2002). "Structural requirements for interaction of sodium channel beta 1 subunits with ankyrin.". J. Biol. Chem. 277 (29): 26681–8.  
  • Wallace RH, Scheffer IE, Parasivam G, et al. (2002). "Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.". Neurology 58 (9): 1426–9.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903.  
  • Meadows LS, Malhotra J, Loukas A, et al. (2003). "Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1.". J. Neurosci. 22 (24): 10699–709.  
  • Aronica E, Troost D, Rozemuller AJ, et al. (2003). "Expression and regulation of voltage-gated sodium channel beta1 subunit protein in human gliosis-associated pathologies.". Acta Neuropathol. 105 (5): 515–23.  
  • Audenaert D, Claes L, Ceulemans B, et al. (2004). "A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy.". Neurology 61 (6): 854–6.  
  • Qin N, D'Andrea MR, Lubin ML, et al. (2004). "Molecular cloning and functional expression of the human sodium channel beta1B subunit, a novel splicing variant of the beta1 subunit.". Eur. J. Biochem. 270 (23): 4762–70.  
  • McEwen DP, Meadows LS, Chen C, et al. (2004). "Sodium channel beta1 subunit-mediated modulation of Nav1.2 currents and cell surface density is dependent on interactions with contactin and ankyrin.". J. Biol. Chem. 279 (16): 16044–9.  
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7.  
  • Platoshyn O, Remillard CV, Fantozzi I, et al. (2006). "Identification of functional voltage-gated Na(+) channels in cultured human pulmonary artery smooth muscle cells.". Pflugers Arch. 451 (2): 380–7.  
  • Thomas EA, Xu R, Petrou S (2007). "Computational analysis of the R85C and R85H epilepsy mutations in Na+ channel beta1 subunits.". Neuroscience 147 (4): 1034–46.  
  • Xu R, Thomas EA, Gazina EV, et al. (2007). "Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function.". Neuroscience 148 (1): 164–74.  

External links

  • GeneReviews/NIH/NCBI/UW entry on Brugada syndrome
  • SCN1B protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.