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{{downsize|title=Na<sub>v</sub>1.1}}
{{Use dmy dates|date=April 2013}}{{DISPLAYTITLE:Na<sub>v</sub>1.1}}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}'''Na<sub>v</sub>1.1''', also known as the '''sodium channel, voltage-gated, type I, alpha subunit''' ('''SCN1A'''), is a [[protein]] which in humans is encoded by the ''SCN1A'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SCN1A sodium channel, voltage-gated, type I, alpha subunit| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6323| accessdate = }}</ref><ref name="pmid8062593">{{cite journal | vauthors = Malo MS, Blanchard BJ, Andresen JM, Srivastava K, Chen XN, Li X, Jabs EW, Korenberg JR, Ingram VM | title = Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24 | journal = Cytogenetics and Cell Genetics | volume = 67 | issue = 3 | pages = 178–86 | year = 1994 | pmid = 8062593 | doi = 10.1159/000133818 }}</ref><ref name="pmid11823106">{{cite journal | vauthors = Ito M, Nagafuji H, Okazawa H, Yamakawa K, Sugawara T, Mazaki-Miyazaki E, Hirose S, Fukuma G, Mitsudome A, Wada K, Kaneko S | title = Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A | journal = Epilepsy Research | volume = 48 | issue = 1-2 | pages = 15–23 | date = Jan 2002 | pmid = 11823106 | doi = 10.1016/S0920-1211(01)00313-8 | url = http://linkinghub.elsevier.com/retrieve/pii/S0920121101003138 }}</ref><ref name="pmid16382098">{{cite journal | vauthors = Catterall WA, Goldin AL, Waxman SG | title = International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels | journal = Pharmacological Reviews | volume = 57 | issue = 4 | pages = 397–409 | date = Dec 2005 | pmid = 16382098 | doi = 10.1124/pr.57.4.4 }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image = PBB_Protein_SCN1A_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1byy.
| PDB = {{PDB2|1byy}}
| Name = Sodium channel, voltage-gated, type I, alpha subunit
| HGNCid = 10585
| Symbol = SCN1A
| AltSymbols =; FEB3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI
| OMIM = 182389
| ECnumber = 
| Homologene = 21375
| MGIid = 98246
| GeneAtlas_image1 = PBB_GE_SCN1A_210383_at_tn.png
| Function = {{GNF_GO|id=GO:0005248 |text = voltage-gated sodium channel activity}} {{GNF_GO|id=GO:0031402 |text = sodium ion binding}}
| Component = {{GNF_GO|id=GO:0001518 |text = voltage-gated sodium channel complex}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006814 |text = sodium ion transport}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6323
    | Hs_Ensembl = ENSG00000144285
    | Hs_RefseqProtein = NP_008851
    | Hs_RefseqmRNA = NM_006920
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 2
    | Hs_GenLoc_start = 166553919
    | Hs_GenLoc_end = 166638395
    | Hs_Uniprot = P35498
    | Mm_EntrezGene = 20265
    | Mm_Ensembl = ENSMUSG00000064329
    | Mm_RefseqmRNA = XM_001001733
    | Mm_RefseqProtein = XP_001001733
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 66073727
    | Mm_GenLoc_end = 66119125
    | Mm_Uniprot = 
  }}
}}
'''Na<sub>v</sub>1.1''', also known as the '''sodium channel, voltage-gated, type I, alpha subunit''' ('''SCN1A'''), is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SCN1A sodium channel, voltage-gated, type I, alpha subunit| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6323| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
The vertebrate [[sodium channel]] is a [[voltage-gated ion channel]] essential for the generation and propagation of [[action potential]]s, chiefly in nerve and muscle. Voltage-sensitive sodium channels are heteromeric complexes consisting of a large central pore-forming glycosylated alpha subunit and 2 smaller auxiliary beta subunits. Functional studies have indicated that the transmembrane alpha subunit of the brain sodium channels is sufficient for expression of functional sodium channels.<ref name="pmid2429308">{{cite journal | vauthors = Goldin AL, Snutch T, Lübbert H, Dowsett A, Marshall J, Auld V, Downey W, Fritz LC, Lester HA, Dunn R | title = Messenger RNA coding for only the alpha subunit of the rat brain Na channel is sufficient for expression of functional channels in Xenopus oocytes | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 83 | issue = 19 | pages = 7503–7 | date = Oct 1986 | pmid = 2429308 | pmc = 386747 | doi = 10.1073/pnas.83.19.7503 | url = http://www.pnas.org/cgi/pmidlookup?view=long&pmid=2429308 }}</ref> Brain sodium channel alpha subunits form a gene subfamily with several structurally distinct isoforms clustering on chromosome 2q24, types I, II ([[Nav1.2|Na<sub>v</sub>1.2]]), and III ([[SCN3A|Na<sub>v</sub>1.3]]). There are also several distinct sodium channel alpha subunit isoforms in skeletal and cardiac muscle ([[Nav1.4|Na<sub>v</sub>1.4]]<ref name="pmid1315496">{{cite journal | vauthors = George AL, Komisarof J, Kallen RG, Barchi RL | title = Primary structure of the adult human skeletal muscle voltage-dependent sodium channel | journal = Annals of Neurology | volume = 31 | issue = 2 | pages = 131–7 | date = Feb 1992 | pmid = 1315496 | doi = 10.1002/ana.410310203 }}</ref> and [[Nav1.5|Na<sub>v</sub>1.5]],<ref name="pmid1309946">{{cite journal | vauthors = Gellens ME, George AL, Chen LQ, Chahine M, Horn R, Barchi RL, Kallen RG | title = Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 89 | issue = 2 | pages = 554–8 | date = Jan 1992 | pmid = 1309946 | pmc = 48277 | doi = 10.1073/pnas.89.2.554 }}</ref> respectively).
{{PBB_Summary
| section_title =
| summary_text = The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, chiefly in nerve and muscle. Voltage-sensitive sodium channels are heteromeric complexes consisting of a large central pore-forming glycosylated alpha subunit and 2 smaller auxiliary beta subunits. Functional studies have indicated that the transmembrane alpha subunit of the brain sodium channels is sufficient for expression of functional sodium channels (Goldin et al., 1986; Isom, 2002). Brain sodium channel alpha subunits form a gene subfamily with several structurally distinct isoforms clustering on chromosome 2, types I, II (SCN2A1, MIM 182390; SCN2A2, MIM 601219); and III (SCN3A, MIM 182391). There are also several distinct sodium channel alpha subunit isoforms in skeletal and cardiac muscle (SCN4A, MIM 603967; SCN5A, MIM 600163; SCN7A, MIM 182392).[supplied by OMIM]<ref name="entrez">{{cite web | title = Entrez Gene: SCN1A sodium channel, voltage-gated, type I, alpha subunit| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6323| accessdate = }}</ref>
}}


==See also==
== Clinical significance ==
 
Mutations in the SCN1A gene cause inherited [[febrile seizure]]s and [[Generalized epilepsy with febrile seizures plus#Type 2|GEFS+, type 2]].<ref name="pmid10742094">{{cite journal | vauthors = Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C, Malafosse A | title = Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2 | journal = Nature Genetics | volume = 24 | issue = 4 | pages = 343–5 | date = Apr 2000 | pmid = 10742094 | doi = 10.1038/74159 }}</ref><ref name="pmid11567038">{{cite journal | vauthors = Spampanato J, Escayg A, Meisler MH, Goldin AL | title = Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2 | journal = The Journal of Neuroscience | volume = 21 | issue = 19 | pages = 7481–90 | date = Oct 2001 | pmid = 11567038 | doi =  }}</ref><ref name="pmid12821740">{{cite journal | vauthors = Nabbout R, Gennaro E, Dalla Bernardina B, Dulac O, Madia F, Bertini E, Capovilla G, Chiron C, Cristofori G, Elia M, Fontana E, Gaggero R, Granata T, Guerrini R, Loi M, La Selva L, Lispi ML, Matricardi A, Romeo A, Tzolas V, Valseriati D, Veggiotti P, Vigevano F, Vallée L, Dagna Bricarelli F, Bianchi A, Zara F | title = Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy | journal = Neurology | volume = 60 | issue = 12 | pages = 1961–7 | date = Jun 2003 | pmid = 12821740 | doi = 10.1212/01.wnl.0000069463.41870.2f }}</ref><ref name="urlwww.scn1a.info - SCN1A infobase">{{cite web | url = http://www.scn1a.info/ | title = SCN1A infobase | author = Lossin C | authorlink = | format = | work = | publisher = | pages = | archiveurl = | archivedate = | quote = compilation of genetic variations in the SCN1A gene that alter the expression or function of Nav1.1 | accessdate = 2009-10-30 }}</ref>
 
== Patent controversy ==
 
On 29 November 2008, The [[Sydney Morning Herald]] reported the first evidence of private intellectual property rights over human DNA<ref name="urlSick babies denied treatment in DNA row - National - smh.com.au">{{cite web | url = http://www.smh.com.au/news/national/sick-babies-denied-treatment-in-row/2008/11/28/1227491827171.html | title = Sick babies denied treatment in DNA row –  | author = Robotham J | authorlink = | date = 29 November 2008 | work = National News | publisher =  Sidney Morning Herald – smh.com.au | pages = | archiveurl = | archivedate = | quote = | accessdate = 2008-12-03}}</ref> having adversely affected medical care. The Melbourne company Genetic Technologies (GTG) controls rights to the gene, and requires royalties for tests on the gene, which can help identify [[Dravet syndrome]]. Doctors on the Children's Hospital in [[Westmead, New South Wales|Westmead]], Australia have told journalists that they would test 50% more infants for the gene, if they could conduct the test on site.
 
== Interactions ==
 
Na<sub>v</sub>1.1 has been shown to [[Protein-protein interaction|interact]] with [[syntrophin, alpha 1]].<ref name=pmid9412493>{{cite journal | vauthors = Gee SH, Madhavan R, Levinson SR, Caldwell JH, Sealock R, Froehner SC | title = Interaction of muscle and brain sodium channels with multiple members of the syntrophin family of dystrophin-associated proteins | journal = The Journal of Neuroscience | volume = 18 | issue = 1 | pages = 128–37 | date = Jan 1998 | pmid = 9412493 }}</ref>
 
== See also ==
* [[Sodium channel]]
* [[Sodium channel]]


==References==
== References ==
{{reflist|2}}
{{reflist|33em}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin|33em}}
{{PBB_Further_reading
* {{cite journal | vauthors = Lerche H, Jurkat-Rott K, Lehmann-Horn F | title = Ion channels and epilepsy | journal = American Journal of Medical Genetics | volume = 106 | issue = 2 | pages = 146–59 | year = 2001 | pmid = 11579435 | doi = 10.1002/ajmg.1582 }}
| citations =
* {{cite journal | vauthors = Isom LL | title = The role of sodium channels in cell adhesion | journal = Frontiers in Bioscience | volume = 7 | issue =  | pages = 12–23 | date = Jan 2002 | pmid = 11779698 | doi = 10.2741/isom }}
*{{cite journal | author=Lerche H, Jurkat-Rott K, Lehmann-Horn F |title=Ion channels and epilepsy. |journal=Am. J. Med. Genet. |volume=106 |issue= 2 |pages= 146-59 |year= 2001 |pmid= 11579435 |doi= 10.1002/ajmg.1582 }}
* {{cite journal | vauthors = Kanai K, Hirose S, Oguni H, Fukuma G, Shirasaka Y, Miyajima T, Wada K, Iwasa H, Yasumoto S, Matsuo M, Ito M, Mitsudome A, Kaneko S | title = Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity | journal = Neurology | volume = 63 | issue = 2 | pages = 329–34 | date = Jul 2004 | pmid = 15277629 | doi = 10.1212/01.wnl.0000129829.31179.5b }}
*{{cite journal | author=Isom LL |title=The role of sodium channels in cell adhesion. |journal=Front. Biosci. |volume=7 |issue=  |pages= 12-23 |year= 2002 |pmid= 11779698 |doi= }}
* {{cite journal | vauthors = Oguni H, Hayashi K, Osawa M, Awaya Y, Fukuyama Y, Fukuma G, Hirose S, Mitsudome A, Kaneko S | title = Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort | journal = Advances in Neurology | volume = 95 | issue =  | pages = 103–17 | year = 2004 | pmid = 15508916 | doi =  }}
*{{cite journal | author=Kanai K, Hirose S, Oguni H, ''et al.'' |title=Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity. |journal=Neurology |volume=63 |issue= 2 |pages= 329-34 |year= 2005 |pmid= 15277629 |doi= }}
* {{cite journal | vauthors = Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA | title = SCN1A mutations and epilepsy | journal = Human Mutation | volume = 25 | issue = 6 | pages = 535–42 | date = Jun 2005 | pmid = 15880351 | doi = 10.1002/humu.20178 }}
*{{cite journal | author=Oguni H, Hayashi K, Osawa M, ''et al.'' |title=Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort. |journal=Advances in neurology |volume=95 |issue=  |pages= 103-17 |year= 2004 |pmid= 15508916 |doi=  }}
* {{cite journal | vauthors = Catterall WA, Goldin AL, Waxman SG | title = International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels | journal = Pharmacological Reviews | volume = 57 | issue = 4 | pages = 397–409 | date = Dec 2005 | pmid = 16382098 | doi = 10.1124/pr.57.4.4 }}
*{{cite journal | author=Mulley JC, Scheffer IE, Petrou S, ''et al.'' |title=SCN1A mutations and epilepsy. |journal=Hum. Mutat. |volume=25 |issue= 6 |pages= 535-42 |year= 2006 |pmid= 15880351 |doi= 10.1002/humu.20178 }}
* {{cite journal | vauthors = Lu CM, Han J, Rado TA, Brown GB | title = Differential expression of two sodium channel subtypes in human brain | journal = FEBS Letters | volume = 303 | issue = 1 | pages = 53–8 | date = May 1992 | pmid = 1317301 | doi = 10.1016/0014-5793(92)80476-W }}
*{{cite journal | author=Catterall WA, Goldin AL, Waxman SG |title=International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels. |journal=Pharmacol. Rev. |volume=57 |issue= 4 |pages= 397-409 |year= 2006 |pmid= 16382098 |doi= 10.1124/pr.57.4.4 }}
* {{cite journal | vauthors = Goldin AL, Snutch T, Lübbert H, Dowsett A, Marshall J, Auld V, Downey W, Fritz LC, Lester HA, Dunn R | title = Messenger RNA coding for only the alpha subunit of the rat brain Na channel is sufficient for expression of functional channels in Xenopus oocytes | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 83 | issue = 19 | pages = 7503–7 | date = Oct 1986 | pmid = 2429308 | pmc = 386747 | doi = 10.1073/pnas.83.19.7503 | url = http://authors.library.caltech.edu/11845/1/GOLpnas86.pdf }}
*{{cite journal | author=Lu CM, Han J, Rado TA, Brown GB |title=Differential expression of two sodium channel subtypes in human brain. |journal=FEBS Lett. |volume=303 |issue= 1 |pages= 53-8 |year= 1992 |pmid= 1317301 |doi= }}
* {{cite journal | vauthors = Malo MS, Blanchard BJ, Andresen JM, Srivastava K, Chen XN, Li X, Jabs EW, Korenberg JR, Ingram VM | title = Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24 | journal = Cytogenetics and Cell Genetics | volume = 67 | issue = 3 | pages = 178–86 | year = 1994 | pmid = 8062593 | doi = 10.1159/000133818 }}
*{{cite journal | author=Goldin AL, Snutch T, Lübbert H, ''et al.'' |title=Messenger RNA coding for only the alpha subunit of the rat brain Na channel is sufficient for expression of functional channels in Xenopus oocytes. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=83 |issue= 19 |pages= 7503-7 |year= 1986 |pmid= 2429308 |doi= }}
* {{cite journal | vauthors = Peiffer A, Thompson J, Charlier C, Otterud B, Varvil T, Pappas C, Barnitz C, Gruenthal K, Kuhn R, Leppert M | title = A locus for febrile seizures (FEB3) maps to chromosome 2q23-24 | journal = Annals of Neurology | volume = 46 | issue = 4 | pages = 671–8 | date = Oct 1999 | pmid = 10514109 | doi = 10.1002/1531-8249(199910)46:4<671::AID-ANA20>3.0.CO;2-5 }}
*{{cite journal | author=Malo MS, Blanchard BJ, Andresen JM, ''et al.'' |title=Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24. |journal=Cytogenet. Cell Genet. |volume=67 |issue= 3 |pages= 178-86 |year= 1994 |pmid= 8062593 |doi= }}
* {{cite journal | vauthors = Wallace RH, Scheffer IE, Barnett S, Richards M, Dibbens L, Desai RR, Lerman-Sagie T, Lev D, Mazarib A, Brand N, Ben-Zeev B, Goikhman I, Singh R, Kremmidiotis G, Gardner A, Sutherland GR, George AL, Mulley JC, Berkovic SF | title = Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus | journal = American Journal of Human Genetics | volume = 68 | issue = 4 | pages = 859–65 | date = Apr 2001 | pmid = 11254444 | pmc = 1275639 | doi = 10.1086/319516 }}
*{{cite journal | author=Peiffer A, Thompson J, Charlier C, ''et al.'' |title=A locus for febrile seizures (FEB3) maps to chromosome 2q23-24. |journal=Ann. Neurol. |volume=46 |issue= 4 |pages= 671-8 |year= 1999 |pmid= 10514109 |doi= }}
* {{cite journal | vauthors = Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH | title = A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy | journal = American Journal of Human Genetics | volume = 68 | issue = 4 | pages = 866–73 | date = Apr 2001 | pmid = 11254445 | pmc = 1275640 | doi = 10.1086/319524 }}
*{{cite journal  | author=Escayg A, MacDonald BT, Meisler MH, ''et al.'' |title=Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. |journal=Nat. Genet. |volume=24 |issue= 4 |pages= 343-5 |year= 2000 |pmid= 10742094 |doi= 10.1038/74159 }}
* {{cite journal | vauthors = Whitaker WR, Faull RL, Waldvogel HJ, Plumpton CJ, Emson PC, Clare JJ | title = Comparative distribution of voltage-gated sodium channel proteins in human brain | journal = Brain Research. Molecular Brain Research | volume = 88 | issue = 1-2 | pages = 37–53 | date = Mar 2001 | pmid = 11295230 | doi = 10.1016/S0169-328X(00)00289-8 }}
*{{cite journal | author=Wallace RH, Scheffer IE, Barnett S, ''et al.'' |title=Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. |journal=Am. J. Hum. Genet. |volume=68 |issue= 4 |pages= 859-65 |year= 2001 |pmid= 11254444 |doi= }}
* {{cite journal | vauthors = Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P | title = De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy | journal = American Journal of Human Genetics | volume = 68 | issue = 6 | pages = 1327–32 | date = Jun 2001 | pmid = 11359211 | pmc = 1226119 | doi = 10.1086/320609 }}
*{{cite journal | author=Escayg A, Heils A, MacDonald BT, ''et al.'' |title=A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. |journal=Am. J. Hum. Genet. |volume=68 |issue= 4 |pages= 866-73 |year= 2001 |pmid= 11254445 |doi= }}
* {{cite journal | vauthors = Sugawara T, Mazaki-Miyazaki E, Ito M, Nagafuji H, Fukuma G, Mitsudome A, Wada K, Kaneko S, Hirose S, Yamakawa K | title = Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures | journal = Neurology | volume = 57 | issue = 4 | pages = 703–5 | date = Aug 2001 | pmid = 11524484 | doi = 10.1212/wnl.57.4.703 }}
*{{cite journal | author=Whitaker WR, Faull RL, Waldvogel HJ, ''et al.'' |title=Comparative distribution of voltage-gated sodium channel proteins in human brain. |journal=Brain Res. Mol. Brain Res. |volume=88 |issue= 1-2 |pages= 37-53 |year= 2001 |pmid= 11295230 |doi= }}
* {{cite journal | vauthors = Abou-Khalil B, Ge Q, Desai R, Ryther R, Bazyk A, Bailey R, Haines JL, Sutcliffe JS, George AL | title = Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation | journal = Neurology | volume = 57 | issue = 12 | pages = 2265–72 | date = Dec 2001 | pmid = 11756608 | doi = 10.1212/wnl.57.12.2265 }}
*{{cite journal | author=Claes L, Del-Favero J, Ceulemans B, ''et al.'' |title=De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. |journal=Am. J. Hum. Genet. |volume=68 |issue= 6 |pages= 1327-32 |year= 2001 |pmid= 11359211 |doi= }}
* {{cite journal | vauthors = Ito M, Nagafuji H, Okazawa H, Yamakawa K, Sugawara T, Mazaki-Miyazaki E, Hirose S, Fukuma G, Mitsudome A, Wada K, Kaneko S | title = Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A | journal = Epilepsy Research | volume = 48 | issue = 1-2 | pages = 15–23 | date = Jan 2002 | pmid = 11823106 | doi = 10.1016/S0920-1211(01)00313-8 }}
*{{cite journal | author=Sugawara T, Mazaki-Miyazaki E, Ito M, ''et al.'' |title=Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures. |journal=Neurology |volume=57 |issue= 4 |pages= 703-5 |year= 2001 |pmid= 11524484 |doi= }}
*{{cite journal | author=Abou-Khalil B, Ge Q, Desai R, ''et al.'' |title=Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. |journal=Neurology |volume=57 |issue= 12 |pages= 2265-72 |year= 2003 |pmid= 11756608 |doi= }}
*{{cite journal | author=Ito M, Nagafuji H, Okazawa H, ''et al.'' |title=Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A. |journal=Epilepsy Res. |volume=48 |issue= 1-2 |pages= 15-23 |year= 2002 |pmid= 11823106 |doi= }}
}}
{{refend}}
{{refend}}


== External links ==
== External links ==
* [https://www.ncbi.nlm.nih.gov/books/NBK1388/  GeneReviews/NCBI/NIH/UW entry on Familial Hemiplegic Migraine]
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gefs  GeneReviews/NCBI/NIH/UW entry on SCN1A-Related Seizure Disorders]
* {{MeshName|SCN1A+protein,+human}}
* {{MeshName|SCN1A+protein,+human}}


{{membrane-protein-stub}}
{{PDB Gallery|geneid=6323}}
{{Ion channels|g2}}
 
{{NLM content}}
{{NLM content}}
{{Ion channels}}
 
[[Category:Ion channels]]
 
{{WikiDoc Sources}}
[[Category:Sodium channels]]

Latest revision as of 14:03, 4 November 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Nav1.1, also known as the sodium channel, voltage-gated, type I, alpha subunit (SCN1A), is a protein which in humans is encoded by the SCN1A gene.[1][2][3][4]

Function

The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, chiefly in nerve and muscle. Voltage-sensitive sodium channels are heteromeric complexes consisting of a large central pore-forming glycosylated alpha subunit and 2 smaller auxiliary beta subunits. Functional studies have indicated that the transmembrane alpha subunit of the brain sodium channels is sufficient for expression of functional sodium channels.[5] Brain sodium channel alpha subunits form a gene subfamily with several structurally distinct isoforms clustering on chromosome 2q24, types I, II (Nav1.2), and III (Nav1.3). There are also several distinct sodium channel alpha subunit isoforms in skeletal and cardiac muscle (Nav1.4[6] and Nav1.5,[7] respectively).

Clinical significance

Mutations in the SCN1A gene cause inherited febrile seizures and GEFS+, type 2.[8][9][10][11]

Patent controversy

On 29 November 2008, The Sydney Morning Herald reported the first evidence of private intellectual property rights over human DNA[12] having adversely affected medical care. The Melbourne company Genetic Technologies (GTG) controls rights to the gene, and requires royalties for tests on the gene, which can help identify Dravet syndrome. Doctors on the Children's Hospital in Westmead, Australia have told journalists that they would test 50% more infants for the gene, if they could conduct the test on site.

Interactions

Nav1.1 has been shown to interact with syntrophin, alpha 1.[13]

See also

References

  1. ↑ "Entrez Gene: SCN1A sodium channel, voltage-gated, type I, alpha subunit".
  2. ↑ Malo MS, Blanchard BJ, Andresen JM, Srivastava K, Chen XN, Li X, Jabs EW, Korenberg JR, Ingram VM (1994). "Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24". Cytogenetics and Cell Genetics. 67 (3): 178–86. doi:10.1159/000133818. PMID 8062593.
  3. ↑ Ito M, Nagafuji H, Okazawa H, Yamakawa K, Sugawara T, Mazaki-Miyazaki E, Hirose S, Fukuma G, Mitsudome A, Wada K, Kaneko S (Jan 2002). "Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A". Epilepsy Research. 48 (1–2): 15–23. doi:10.1016/S0920-1211(01)00313-8. PMID 11823106.
  4. ↑ Catterall WA, Goldin AL, Waxman SG (Dec 2005). "International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels". Pharmacological Reviews. 57 (4): 397–409. doi:10.1124/pr.57.4.4. PMID 16382098.
  5. ↑ Goldin AL, Snutch T, Lübbert H, Dowsett A, Marshall J, Auld V, Downey W, Fritz LC, Lester HA, Dunn R (Oct 1986). "Messenger RNA coding for only the alpha subunit of the rat brain Na channel is sufficient for expression of functional channels in Xenopus oocytes". Proceedings of the National Academy of Sciences of the United States of America. 83 (19): 7503–7. doi:10.1073/pnas.83.19.7503. PMC 386747. PMID 2429308.
  6. ↑ George AL, Komisarof J, Kallen RG, Barchi RL (Feb 1992). "Primary structure of the adult human skeletal muscle voltage-dependent sodium channel". Annals of Neurology. 31 (2): 131–7. doi:10.1002/ana.410310203. PMID 1315496.
  7. ↑ Gellens ME, George AL, Chen LQ, Chahine M, Horn R, Barchi RL, Kallen RG (Jan 1992). "Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel". Proceedings of the National Academy of Sciences of the United States of America. 89 (2): 554–8. doi:10.1073/pnas.89.2.554. PMC 48277. PMID 1309946.
  8. ↑ Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C, Malafosse A (Apr 2000). "Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2". Nature Genetics. 24 (4): 343–5. doi:10.1038/74159. PMID 10742094.
  9. ↑ Spampanato J, Escayg A, Meisler MH, Goldin AL (Oct 2001). "Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2". The Journal of Neuroscience. 21 (19): 7481–90. PMID 11567038.
  10. ↑ Nabbout R, Gennaro E, Dalla Bernardina B, Dulac O, Madia F, Bertini E, Capovilla G, Chiron C, Cristofori G, Elia M, Fontana E, Gaggero R, Granata T, Guerrini R, Loi M, La Selva L, Lispi ML, Matricardi A, Romeo A, Tzolas V, Valseriati D, Veggiotti P, Vigevano F, Vallée L, Dagna Bricarelli F, Bianchi A, Zara F (Jun 2003). "Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy". Neurology. 60 (12): 1961–7. doi:10.1212/01.wnl.0000069463.41870.2f. PMID 12821740.
  11. ↑ Lossin C. "SCN1A infobase". Retrieved 2009-10-30. compilation of genetic variations in the SCN1A gene that alter the expression or function of Nav1.1
  12. ↑ Robotham J (29 November 2008). "Sick babies denied treatment in DNA row –". National News. Sidney Morning Herald – smh.com.au. Retrieved 2008-12-03.
  13. ↑ Gee SH, Madhavan R, Levinson SR, Caldwell JH, Sealock R, Froehner SC (Jan 1998). "Interaction of muscle and brain sodium channels with multiple members of the syntrophin family of dystrophin-associated proteins". The Journal of Neuroscience. 18 (1): 128–37. PMID 9412493.

Further reading

External links

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

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