Na_v1.1

SCN1A
ساختارهای موجود
PDB	جستجوی هم‌ساخت‌شناسی: PDBe RCSB
فهرست شناسه‌های PDB
	7DTD
معین‌کننده‌ها
نام‌های دیگر	SCN1A, EIEE6, FEB3, FEB3A, FHM3, GEFSP2, HBSCI, NAC1, Nav1.1, SCN1, SMEI, sodium voltage-gated channel alpha subunit 1, DRVT, DEE6, DEE6A, DEE6B
شناسه‌های بیرونی	OMIM: 182389 MGI: 98246 HomoloGene: 21375 GeneCards: SCN1A
موقعیت ژن (موش)
کروموزوم	کروموزوم ۲ (موش)
پایان	66,271,184 bp
الگوی گسترش RNA
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• sodium channel activity; • voltage-gated ion channel activity; • ion channel activity; • voltage-gated sodium channel activity;
ترکیبات سلولی	• voltage-gated sodium channel complex; • integral component of membrane; • membrane; • نوکلئوپلاسم; • پوسته یاخته; • nuclear body; • صفحات بینابینی; • Z disc; • لولچه عرضی; • آسه; • گره رانویه; • sodium channel complex; • neuronal cell body; • axon initial segment;
فرایند زیستی	• membrane depolarization during action potential; • sodium ion transmembrane transport; • regulation of ion transmembrane transport; • ion transport; • transmembrane transport; • ion transmembrane transport; • sodium ion transport; • cardiac muscle cell action potential involved in contraction; • پتانسیل عمل; • adult walking behavior; • neuronal action potential propagation; • neuronal action potential; • regulation of membrane potential; • neuromuscular process controlling posture; • detection of mechanical stimulus involved in sensory perception of pain;
	منابع: آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	6323
	20265
	ENSG00000144285
	ENSMUSG00000064329
	P35498
	A2APX8
	NM_001165964، NM_001202435، NM_006920، NM_001353948، NM_001353949، NM_001353950، NM_001353951، NM_001353952، NM_001353954، NM_001353955، NM_001353957، NM_001353958، NM_001353960، NM_001353961، NR_148667، XM_047445392، XM_047445393 NM_001165963، NM_001165964، NM_001202435، NM_006920، NM_001353948، NM_001353949، NM_001353950، NM_001353951، NM_001353952، NM_001353954، NM_001353955، NM_001353957، NM_001353958، NM_001353960، NM_001353961، NR_148667، XM_047445392، XM_047445393
	XM_006499027، XM_006499028، NM_001313997، XR_001781558، XR_001781559، XM_036159812 NM_018733، XM_006499027، XM_006499028، NM_001313997، XR_001781558، XR_001781559، XM_036159812
	NP_001159436، NP_001189364، NP_008851، NP_001340877، NP_001340878، NP_001340879، NP_001340880، NP_001340881، NP_001340883، NP_001340884، NP_001340886، NP_001340887، NP_001340889، NP_001340890 NP_001159435، NP_001159436، NP_001189364، NP_008851، NP_001340877، NP_001340878، NP_001340879، NP_001340880، NP_001340881، NP_001340883، NP_001340884، NP_001340886، NP_001340887، NP_001340889، NP_001340890
	NP_061203، XP_006499090، XP_006499091، XP_036015705 NP_001300926، NP_061203، XP_006499090، XP_006499091، XP_036015705
	ویکی‌داده
مشاهده/ویرایش انسان	مشاهده/ویرایش موش

Na_v1.1 که با نامِ کانال سدیم، با درگاه وابسته‌به ولتاژ، نوع ۱، زیرواحد آلفا (انگلیسی: Sodium channel, voltage-gated, type I, alpha subunit) هم شناخته می‌شود، یک پروتئین است که در انسان توسط ژن «SCN1A» کُدگذاری می‌شود.^[۴]^[۵]^[۶]^[۷]

اهمیت بالینی[ویرایش]

کانال‌های سدیمی مهره‌داران، مجراهای یونی وابسته به ولتاژی هستند که وجودشان برای تولید و انتشار پتانسیل عمل ضروری است.

جهش در ژن تولیدکنندهٔ این پروتئین، منجر به «تشنج ناشی از تب مادرزادی» و «نوع دوم صرع منتشر با تشنج‌های ناشی از تب» (GEFS+, type 2) می‌گردد.^[۸]^[۹]^[۱۰]^[۱۱]

منابع[ویرایش]

↑ ^۱٫۰ ^۱٫۱ ^۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000064329 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: SCN1A sodium channel, voltage-gated, type I, alpha subunit".
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ Lossin C. "SCN1A infobase". Archived from the original on 21 July 2011. Retrieved 2009-10-30. compilation of genetic variations in the SCN1A gene that alter the expression or function of Nav1.1

مشارکت‌کنندگان ویکی‌پدیا. «Nav1.1». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۲ ژوئن ۲۰۱۸.

بیشتر بخوانید[ویرایش]

Lerche H, Jurkat-Rott K, Lehmann-Horn F (2001). "Ion channels and epilepsy". American Journal of Medical Genetics. 106 (2): 146–59. doi:10.1002/ajmg.1582. PMID 11579435.
Isom LL (Jan 2002). "The role of sodium channels in cell adhesion". Frontiers in Bioscience. 7: 12–23. doi:10.2741/isom. PMID 11779698.
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 (Jul 2004). "Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity". Neurology. 63 (2): 329–34. doi:10.1212/01.wnl.0000129829.31179.5b. PMID 15277629.
Oguni H, Hayashi K, Osawa M, Awaya Y, Fukuyama Y, Fukuma G, Hirose S, Mitsudome A, Kaneko S (2004). "Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort". Advances in Neurology. 95: 103–17. PMID 15508916.
Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA (Jun 2005). "SCN1A mutations and epilepsy". Human Mutation. 25 (6): 535–42. doi:10.1002/humu.20178. PMID 15880351.
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.
Lu CM, Han J, Rado TA, Brown GB (May 1992). "Differential expression of two sodium channel subtypes in human brain". FEBS Letters. 303 (1): 53–8. doi:10.1016/0014-5793(92)80476-W. PMID 1317301.
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.
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.
Peiffer A, Thompson J, Charlier C, Otterud B, Varvil T, Pappas C, Barnitz C, Gruenthal K, Kuhn R, Leppert M (Oct 1999). "A locus for febrile seizures (FEB3) maps to chromosome 2q23-24". Annals of Neurology. 46 (4): 671–8. doi:10.1002/1531-8249(199910)46:4<671::AID-ANA20>3.0.CO;2-5. PMID 10514109.
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 (Apr 2001). "Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus". American Journal of Human Genetics. 68 (4): 859–65. doi:10.1086/319516. PMC 1275639. PMID 11254444.
Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH (Apr 2001). "A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy". American Journal of Human Genetics. 68 (4): 866–73. doi:10.1086/319524. PMC 1275640. PMID 11254445.
Whitaker WR, Faull RL, Waldvogel HJ, Plumpton CJ, Emson PC, Clare JJ (Mar 2001). "Comparative distribution of voltage-gated sodium channel proteins in human brain". Brain Research. Molecular Brain Research. 88 (1–2): 37–53. doi:10.1016/S0169-328X(00)00289-8. PMID 11295230.
Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P (Jun 2001). "De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy". American Journal of Human Genetics. 68 (6): 1327–32. doi:10.1086/320609. PMC 1226119. PMID 11359211.
Sugawara T, Mazaki-Miyazaki E, Ito M, Nagafuji H, Fukuma G, Mitsudome A, Wada K, Kaneko S, Hirose S, Yamakawa K (Aug 2001). "Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures". Neurology. 57 (4): 703–5. doi:10.1212/wnl.57.4.703. PMID 11524484.
Abou-Khalil B, Ge Q, Desai R, Ryther R, Bazyk A, Bailey R, Haines JL, Sutcliffe JS, George AL (Dec 2001). "Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation". Neurology. 57 (12): 2265–72. doi:10.1212/wnl.57.12.2265. PMID 11756608.
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.

پیوند به بیرون[ویرایش]

SCN1A protein, human در سرعنوان‌های موضوعی پزشکی (MeSH) در کتابخانهٔ ملی پزشکی ایالات متحدهٔ آمریکا

[refGRCm38Ensembl-1] ۱٫۰ ^۱٫۱ ^۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000064329 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-4] "Entrez Gene: SCN1A sodium channel, voltage-gated, type I, alpha subunit".

[pmid_8062593-5] 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.

[pmid_11823106-6] 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.

[pmid_16382098-7] 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.

[pmid10742094-8] 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.

[pmid11567038-9] 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.

[pmid12821740-10] 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.

[urlwww.scn1a.info_-_SCN1A_infobase-11] Lossin C. "SCN1A infobase". Archived from the original on 21 July 2011. Retrieved 2009-10-30. compilation of genetic variations in the SCN1A gene that alter the expression or function of Nav1.1

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