Sodium channel subunit beta-1

NameSodium channel subunit beta-1
SynonymsNot Available
Gene NameSCN1B
OrganismHuman
Amino acid sequence
>lcl|BSEQ0006988|Sodium channel subunit beta-1
MGRLLALVVGAALVSSACGGCVEVDSETEAVYGMTFKILCISCKRRSETNAETFTEWTFR
QKGTEEFVKILRYENEVLQLEEDERFEGRVVWNGSRGTKDLQDLSIFITNVTYNHSGDYE
CHVYRLLFFENYEHNTSVVKKIHIEVVDKANRDMASIVSEIMMYVLIVVLTIWLVAEMIY
CYKKIAAATETAAQENASEYLAITSESKENCTGVQVAE
Number of residues218
Molecular Weight24706.955
Theoretical pI4.56
GO Classification
Functions
  • voltage-gated sodium channel activity
  • sodium channel regulator activity
  • sodium channel inhibitor activity
  • voltage-gated sodium channel activity involved in cardiac muscle cell action potential
  • voltage-gated sodium channel activity involved in Purkinje myocyte action potential
Processes
  • cardiac muscle contraction
  • membrane depolarization
  • membrane depolarization during cardiac muscle cell action potential
  • cell adhesion
  • membrane depolarization during Purkinje myocyte cell action potential
  • positive regulation of sodium ion transport
  • regulation of atrial cardiac muscle cell membrane depolarization
  • regulation of heart rate by cardiac conduction
  • regulation of ventricular cardiac muscle cell membrane repolarization
  • synaptic transmission
  • locomotion
  • regulation of sodium ion transmembrane transporter activity
  • axon guidance
  • positive regulation of neuron projection development
  • sodium ion transmembrane transport
  • neuronal action potential propagation
  • cardiac conduction
  • corticospinal neuron axon guidance
  • cardiac muscle cell action potential involved in contraction
Components
  • extracellular region
  • voltage-gated sodium channel complex
  • node of Ranvier
  • intercalated disc
  • T-tubule
General FunctionVoltage-gated sodium channel activity involved in purkinje myocyte action potential
Specific FunctionCrucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-1 can modulate multiple alpha subunit isoforms from brain, skeletal muscle, and heart. Its association with neurofascin may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons.Isoform 2: Cell adhesion molecule that plays a critical role in neuronal migration and pathfinding during brain development. Stimulates neurite outgrowth.
Pfam Domain Function
Transmembrane Regions161-182
GenBank Protein ID307415
UniProtKB IDQ07699
UniProtKB Entry NameSCN1B_HUMAN
Cellular LocationMembrane
Gene sequence
>lcl|BSEQ0019451|Sodium channel subunit beta-1 (SCN1B)
ATGGGGAGGCTGCTGGCCTTAGTGGTCGGCGCGGCACTGGTGTCCTCAGCCTGCGGGGGC
TGCGTGGAGGTGGACTCGGAGACCGAGGCCGTGTATGGGATGACCTTCAAAATTCTTTGC
ATCTCCTGCAAGCGCCGCAGCGAGACCAACGCTGAGACCTTCACCGAGTGGACCTTCCGC
CAGAAGGGCACTGAGGAGTTTGTCAAGATCCTGCGCTATGAGAATGAGGTGTTGCAGCTG
GAGGAGGATGAGCGCTTCGAGGGCCGCGTGGTGTGGAATGGCAGCCGGGGCACCAAAGAC
CTGCAGGATCTGTCTATCTTCATCACCAATGTCACCTACAACCACTCGGGCGACTACGAG
TGCCACGTCTACCGCCTGCTCTTCTTCGAAAACTACGAGCACAACACCAGCGTCGTCAAG
AAGATCCACATTGAGGTAGTGGACAAAGCCAACAGAGACATGGCATCCATCGTGTCTGAG
ATCATGATGTATGTGCTCATTGTGGTGTTGACCATATGGCTCGTGGCAGAGATGATTTAC
TGCTACAAGAAGATCGCTGCCGCCACGGAGACTGCTGCACAGGAGAATGCCTCGGAATAC
CTGGCCATCACCTCTGAAAGCAAAGAGAACTGCACGGGCGTCCAGGTGGCCGAATAG
GenBank Gene IDL10338
GeneCard IDNot Available
GenAtlas IDNot Available
HGNC IDHGNC:10586
Chromosome Location19
Locus19q13.1
References
  1. McClatchey AI, Cannon SC, Slaugenhaupt SA, Gusella JF: The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain. Hum Mol Genet. 1993 Jun;2(6):745-9. 8394762
  2. Makita N, Bennett PB Jr, George AL Jr: 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. 1994 Mar 11;269(10):7571-8. 8125980
  3. Makita N, Sloan-Brown K, Weghuis DO, Ropers HH, George AL Jr: Genomic organization and chromosomal assignment of the human voltage-gated Na+ channel beta 1 subunit gene (SCN1B). Genomics. 1994 Oct;23(3):628-34. 7851891
  4. Qin N, D'Andrea MR, Lubin ML, Shafaee N, Codd EE, Correa AM: Molecular cloning and functional expression of the human sodium channel beta1B subunit, a novel splicing variant of the beta1 subunit. Eur J Biochem. 2003 Dec;270(23):4762-70. 14622265
  5. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. 14702039
  6. Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM, Lucas SM: The DNA sequence and biology of human chromosome 19. Nature. 2004 Apr 1;428(6982):529-35. 15057824
  7. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. 15489334
  8. Watanabe H, Koopmann TT, Le Scouarnec S, Yang T, Ingram CR, Schott JJ, Demolombe S, Probst V, Anselme F, Escande D, Wiesfeld AC, Pfeufer A, Kaab S, Wichmann HE, Hasdemir C, Aizawa Y, Wilde AA, Roden DM, Bezzina CR: Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J Clin Invest. 2008 Jun;118(6):2260-8. doi: 10.1172/JCI33891. 18464934
  9. Patino GA, Brackenbury WJ, Bao Y, Lopez-Santiago LF, O'Malley HA, Chen C, Calhoun JD, Lafreniere RG, Cossette P, Rouleau GA, Isom LL: Voltage-gated Na+ channel beta1B: a secreted cell adhesion molecule involved in human epilepsy. J Neurosci. 2011 Oct 12;31(41):14577-91. doi: 10.1523/JNEUROSCI.0361-11.2011. 21994374
  10. Wallace RH, Wang DW, Singh R, Scheffer IE, George AL Jr, Phillips HA, Saar K, Reis A, Johnson EW, Sutherland GR, Berkovic SF, Mulley JC: Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet. 1998 Aug;19(4):366-70. 9697698
  11. Watanabe H, Darbar D, Kaiser DW, Jiramongkolchai K, Chopra S, Donahue BS, Kannankeril PJ, Roden DM: Mutations in sodium channel beta1- and beta2-subunits associated with atrial fibrillation. Circ Arrhythm Electrophysiol. 2009 Jun;2(3):268-75. doi: 10.1161/CIRCEP.108.779181. Epub 2009 Mar 6. 19808477
  12. Orrico A, Galli L, Grosso S, Buoni S, Pianigiani R, Balestri P, Sorrentino V: Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies. Clin Genet. 2009 Jun;75(6):579-81. 19522081
  13. Fendri-Kriaa N, Kammoun F, Salem IH, Kifagi C, Mkaouar-Rebai E, Hsairi I, Rebai A, Triki C, Fakhfakh F: New mutation c.374C>T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures. Eur J Neurol. 2011 May;18(5):695-702. doi: 10.1111/j.1468-1331.2010.03216.x. Epub 2010 Oct 6. 21040232