SCN1B

From Wikipedia, the free encyclopedia

Sodium channel, voltage-gated, type I, beta

Identifiers

SCN1B; GEFSP1

External IDs

Gene ontology
Molecular Function:	• ion channel activity • voltage-gated sodium channel activity • sodium ion binding
Cellular Component:	• membrane fraction • membrane • integral to membrane
Biological Process:	• ion transport • sodium ion transport • synaptic transmission

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

XM_001130615 (mRNA)
XP_001130615 (protein)

XM_994669 (mRNA)
XP_999763 (protein)

Location

Chr 19: 40.21 - 40.22 Mb

Chr 7: 30.83 - 30.84 Mb

Pubmed search

[1]

[2]

Sodium channel, voltage-gated, type I, beta, also known as SCN1B, is a human gene.^[1]

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]^[1]

1 See also
2 References
3 Further reading
4 External links

[edit] See also

Sodium channel

[edit] References

^ ^a ^b Entrez Gene: SCN1B sodium channel, voltage-gated, type I, beta.

[edit] Further reading

Hartshorne RP, Catterall WA (1984). "The sodium channel from rat brain. Purification and subunit composition.". J. Biol. Chem. 259 (3): 1667–75. PMID 6319405.
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. doi:10.1006/geno.1994.1551. PMID 7851891.
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. PMID 8125980.
McClatchey AI, Cannon SC, Slaugenhaupt SA, Gusella JF (1993). "The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain.". Hum. Mol. Genet. 2 (6): 745–9. PMID 8394762.
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. doi:10.1038/1252. PMID 9697698.
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. PMID 11470829.
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. PMID 11744748.
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. doi:10.1074/jbc.M202354200. PMID 11997395.
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. PMID 12011299.
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. doi:10.1073/pnas.242603899. PMID 12477932.
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. PMID 12486163.
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. doi:10.1007/s00401-003-0677-2. PMID 12677453.
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. PMID 14504340.
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. PMID 14622265.
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. doi:10.1074/jbc.M400856200. PMID 14761957.
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. doi:10.1101/gr.2596504. PMID 15489334.
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. doi:10.1007/s00424-005-1478-3. PMID 16052353.
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. doi:10.1016/j.neuroscience.2007.05.010. PMID 17604911.
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. doi:10.1016/j.neuroscience.2007.05.038. PMID 17629415.

[edit] External links

MeSH SCN1B+protein,+human

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

v • d • e Membrane transport protein: ion channels

Ca²⁺: Calcium channel	Voltage-dependent calcium channel (L-type/Ca_vα(1.1, 1.2, 1.3, 1.4), N-type, P-type/Ca_vα(2.1), Q-type, R-type, T-type, α₂δ-subunits (1, 2), β-subunits (β1, β2, β3, β4), γ-subunits (γ1, γ2, γ3, γ4) Inositol triphosphate receptor • Ryanodine receptor • Cation channels of sperm • Two-pore channel

Na⁺: Sodium channel	Na_vα (1.1, 1.2, 1.3, 1.4, 1.5, 1.6, 1.7, 1.9, 7A) • Na_vβ (1, 2, 3, 4) • Epithelial sodium channel

K⁺: Potassium channel	Voltage-gated (K_vα (1.1, 1.2, 1.3, 1.4, 1.5, 2.1, 3.1, 3.4, 4.1, 4.2, 4.3, 6.1, 7.1, 7.2, 7.3, 7.4, 7.5, 9.3, 10.1, 11.1/hERG) • K_vβ (1, 2), Shaker gene, KCNE1) Calcium-activated (BK channel: α1, β1, β2, β3, β4; SK channel: SK1, SK2, SK3, SK4) Inward-rectifier K_ir (1.1, 2.1, 2.2, 2.3, 2.4, GIRK, 3.1, 3.2, 3.3, 3.4, 4.1, 4.2, 5.1, 6.1, 6.2, 7.1) Tandem pore domain K2P (1, 2, 3, 4, 6, 9, 15, 17)

Cl^-: Chloride channel	Cystic fibrosis transmembrane conductance regulator

Porin	Aquaporin (1, 2, 3, 4, 5, 7, 8, 9) • Voltage-dependent anion channel (1)

Cations: TRP	TRPA (1) • TRPC (1, 2, 3, 4, 4AP, 5, 6, 7) • TRPM (1, 2, 3, 4, 5, 6, 7, 8) • TRPML (Mucolipin-1) • TRPP (1, 2) • TRPV (1, 2, 3, 4, 5, 6)

Other/general	Voltage-gated ion channel • Ligand-gated ion channel • Cyclic nucleotide-gated ion channel (α1, α2, α3, β1, β3, H1, H2, H3, H4) • Stretch-activated ion channel