Na_v1.5

SCN5A
ساختارهای موجود
PDB	جستجوی هم‌ساخت‌شناسی: PDBe RCSB
فهرست شناسه‌های PDB
	2KBI, 2L53, 4DCK, 4DJC, 4JQ0, 4OVN
معین‌کننده‌ها
نام‌های دیگر	SCN5A, CDCD2, CMD1E, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, VF1, sodium voltage-gated channel alpha subunit 5
شناسه‌های بیرونی	OMIM: 600163 MGI: 98251 HomoloGene: 22738 GeneCards: SCN5A
موقعیت ژن (موش)
کروموزوم	کروموزوم ۹ (موش)
پایان	119,408,082 bp
هستی‌شناسی ژن
عملکرد ملکولی	• nitric-oxide synthase binding; • transmembrane transporter binding; • protein domain specific binding; • voltage-gated sodium channel activity involved in AV node cell action potential; • voltage-gated sodium channel activity involved in bundle of His cell action potential; • sodium channel activity; • voltage-gated sodium channel activity involved in SA node cell action potential; • voltage-gated ion channel activity; • ion channel activity; • voltage-gated sodium channel activity involved in Purkinje myocyte action potential; • GO:0001948، GO:0016582 پیوند پروتئینی; • ankyrin binding; • enzyme binding; • fibroblast growth factor binding; • voltage-gated sodium channel activity involved in cardiac muscle cell action potential; • scaffold protein binding; • protein kinase binding; • ubiquitin protein ligase binding; • voltage-gated sodium channel activity; • calmodulin binding;
ترکیبات سلولی	• voltage-gated sodium channel complex; • integral component of membrane; • lateral plasma membrane; • membrane; • صفحات بینابینی; • لولچه عرضی; • intracellular anatomical structure; • cell surface; • Z disc; • شبکه آندوپلاسمی; • حفره غشایی; • سارکولما; • پوسته یاخته; • سیتوپلاسم; • perinuclear region of cytoplasm; • آسه;
فرایند زیستی	• regulation of atrial cardiac muscle cell membrane repolarization; • cellular response to calcium ion; • membrane depolarization during AV node cell action potential; • regulation of ventricular cardiac muscle cell membrane depolarization; • membrane depolarization during Purkinje myocyte cell action potential; • membrane depolarization during bundle of His cell action potential; • membrane depolarization during action potential; • cardiac muscle contraction; • sodium ion transmembrane transport; • sodium ion transport; • positive regulation of epithelial cell proliferation; • SA node cell action potential; • brainstem development; • cardiac ventricle development; • regulation of atrial cardiac muscle cell membrane depolarization; • membrane depolarization; • ventricular cardiac muscle cell action potential; • bundle of His cell action potential; • cardiac muscle cell action potential involved in contraction; • regulation of ion transmembrane transport; • ion transport; • cerebellum development; • regulation of heart rate; • odontogenesis of dentin-containing tooth; • positive regulation of action potential; • regulation of cardiac muscle cell contraction; • telencephalon development; • AV node cell to bundle of His cell communication; • transmembrane transport; • GO:0061423 positive regulation of sodium ion transport; • membrane depolarization during SA node cell action potential; • response to denervation involved in regulation of muscle adaptation; • regulation of sodium ion transmembrane transport; • AV node cell action potential; • regulation of heart rate by cardiac conduction; • membrane depolarization during cardiac muscle cell action potential; • neuronal action potential; • regulation of ventricular cardiac muscle cell membrane repolarization; • atrial cardiac muscle cell action potential; • membrane depolarization during atrial cardiac muscle cell action potential; • cardiac conduction;
	منابع: آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	6331
	20271
	ENSG00000183873
	ENSMUSG00000032511
	Q14524
	Q9JJV9
	NM_001099404، NM_001099405، NM_001160160، NM_001160161، NM_198056، XM_011533991، NM_001354701 NM_000335، NM_001099404، NM_001099405، NM_001160160، NM_001160161، NM_198056، XM_011533991، NM_001354701
	NM_021544، XM_006511993، XM_006511995، XM_006511996، XM_006511997 NM_001253860، NM_021544، XM_006511993، XM_006511995، XM_006511996، XM_006511997
	NP_001092874، NP_001092875، NP_001153632، NP_001153633، NP_932173، XP_011532293، XP_016862506، NP_001341630 NP_000326، NP_001092874، NP_001092875، NP_001153632، NP_001153633، NP_932173، XP_011532293، XP_016862506، NP_001341630
	NP_067519، XP_006512056، XP_006512058، XP_006512059، XP_006512060 NP_001240789، NP_067519، XP_006512056، XP_006512058، XP_006512059، XP_006512060
	ویکی‌داده
مشاهده/ویرایش انسان	مشاهده/ویرایش موش

Nav1.5 که با نامِ کانال سدیم، با درگاه وابسته‌به ولتاژ، نوع ۵، زیرواحد آلفا (انگلیسی: Sodium voltage-gated channel alpha subunit 5) هم شناخته می‌شود، یک پروتئین پوسته‌ای درونی و مقاوم به تترو دوتوکسین است که در انسان توسط ژن «SCN5A» کُدگذاری می‌شود.

این پروتئین بیشتر در ماهیچه‌های قلب یافت می‌شود که کارش ورود سریع‌السیر یون سدیم از جدار سلول و در نتیجه، وقوع فوری فاز دپلاریزسیون در پتانسیل عمل سلول‌های قلبی است. بدنی ترتیب، این کانال سدیمی نقش مهمی در سیستم هدایت الکتریکی قلب ایفا می‌کند.

تعداد فراوانی از بیماری‌های قلبی با جهش ژن سازندهٔ این کانال پروتئینی در ارتباط هستند که از آن میان می‌توان به موارد زیر اشاره کرد:

سندرم بروگادا^[۴]^[۵]^[۶]
بیماری لِـوْ^[۷]^[۸]
کاردیومیوپاتی اتساعی^[۹]^[۱۰]
سندرم سینوس بیمار^[۱۱]
فیبریلاسیون دهلیزی^[۱۲]
سندرم کیوتی نوع ۳ ^[۶]^[۱۳]
انقباضات زودرس چند کانونی نابجا وابسته به رشته‌های پورکینژ (MEPPC)^[۱۰]^[۱۴]

علاوه بر بیماری‌های قلبی فوق، جهش در ژن SCN5A در تعدادی بیماری غیر قلبی نیز مشاهده شده‌است که از میان آنها، می‌توان سندرم روده تحریک‌پذیر و به‌ویژه نوعی از آن را که با یبوست همراه است (IBS-C)، نام برد.^[۱۵]^[۱۶]

جستارهای وابسته[ویرایش]

منابع[ویرایش]

↑ ^۱٫۰ ^۱٫۱ ^۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000032511 - 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.
↑ Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, Brugada P, et al. (Mar 1998). "Genetic basis and molecular mechanism for idiopathic ventricular fibrillation". Nature. 392 (6673): 293–6. doi:10.1038/32675. PMID 9521325.
↑ Bezzina C, Veldkamp MW, van Den Berg MP, Postma AV, Rook MB, Viersma JW, van Langen IM, Tan-Sindhunata G, Bink-Boelkens MT, van Der Hout AH, Mannens MM, Wilde AA (Dec 1999). "A single Na(+) channel mutation causing both long-QT and Brugada syndromes". Circulation Research. 85 (12): 1206–13. doi:10.1161/01.res.85.12.1206. PMID 10590249.
↑ ^۶٫۰ ^۶٫۱ Remme CA, Verkerk AO, Nuyens D, van Ginneken AC, van Brunschot S, Belterman CN, Wilders R, van Roon MA, Tan HL, Wilde AA, Carmeliet P, de Bakker JM, Veldkamp MW, Bezzina CR (Dec 2006). "Overlap syndrome of cardiac sodium channel disease in mice carrying the equivalent mutation of human SCN5A-1795insD". Circulation. 114 (24): 2584–94. doi:10.1161/CIRCULATIONAHA.106.653949. PMID 17145985.
↑ Schott JJ, Alshinawi C, Kyndt F, Probst V, Hoorntje TM, Hulsbeek M, Wilde AA, Escande D, Mannens MM, Le Marec H (Sep 1999). "Cardiac conduction defects associate with mutations in SCN5A". Nature Genetics. 23 (1): 20–1. doi:10.1038/12618. PMID 10471492.
↑ Tan HL, Bink-Boelkens MT, Bezzina CR, Viswanathan PC, Beaufort-Krol GC, van Tintelen PJ, van den Berg MP, Wilde AA, Balser JR (Feb 2001). "A sodium-channel mutation causes isolated cardiac conduction disease". Nature. 409 (6823): 1043–7. doi:10.1038/35059090. PMID 11234013.
↑ McNair WP, Ku L, Taylor MR, Fain PR, Dao D, Wolfel E, Mestroni L (Oct 2004). "SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia". Circulation. 110 (15): 2163–7. doi:10.1161/01.CIR.0000144458.58660.BB. PMID 15466643.
↑ ^۱۰٫۰ ^۱۰٫۱ Laurent G, Saal S, Amarouch MY, Béziau DM, Marsman RF, Faivre L, Barc J, Dina C, Bertaux G, Barthez O, Thauvin-Robinet C, Charron P, Fressart V, Maltret A, Villain E, Baron E, Mérot J, Turpault R, Coudière Y, Charpentier F, Schott JJ, Loussouarn G, Wilde AA, Wolf JE, Baró I, Kyndt F, Probst V (Jul 2012). "Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy". Journal of the American College of Cardiology. 60 (2): 144–56. doi:10.1016/j.jacc.2012.02.052. PMID 22766342.
↑ Benson DW, Wang DW, Dyment M, Knilans TK, Fish FA, Strieper MJ, Rhodes TH, George AL (Oct 2003). "Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)". The Journal of Clinical Investigation. 112 (7): 1019–28. doi:10.1172/JCI18062. PMC 198523. PMID 14523039.
↑ Makiyama T, Akao M, Shizuta S, Doi T, Nishiyama K, Oka Y, Ohno S, Nishio Y, Tsuji K, Itoh H, Kimura T, Kita T, Horie M (Oct 2008). "A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation". Journal of the American College of Cardiology. 52 (16): 1326–34. doi:10.1016/j.jacc.2008.07.013. PMID 18929244.
↑ Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, Moss AJ, Towbin JA, Keating MT (Mar 1995). "SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome". Cell. 80 (5): 805–11. doi:10.1016/0092-8674(95)90359-3. PMID 7889574.
↑ Mann SA, Castro ML, Ohanian M, Guo G, Zodgekar P, Sheu A, Stockhammer K, Thompson T, Playford D, Subbiah R, Kuchar D, Aggarwal A, Vandenberg JI, Fatkin D (Oct 2012). "R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy". Journal of the American College of Cardiology. 60 (16): 1566–73. doi:10.1016/j.jacc.2012.05.050. PMID 22999724.
↑ Beyder A, Farrugia G (2016). "Ion channelopathies in functional GI disorders". American Journal of Physiology. Gastrointestinal and Liver Physiology. 311 (4): G581–G586. doi:10.1152/ajpgi.00237.2016. PMC 5142191. PMID 27514480.
↑ Verstraelen TE, Ter Bekke RM, Volders PG, Masclee AA, Kruimel JW (2015). "The role of the SCN5A-encoded channelopathy in irritable bowel syndrome and other gastrointestinal disorders". Neurogastroenterology and Motility : the Official Journal of the European Gastrointestinal Motility Society. 27 (7): 906–13. doi:10.1111/nmo.12569. PMID 25898860.

مشارکت‌کنندگان ویکی‌پدیا. «Nav1.5». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۷ ژوئن ۲۰۱۸.

بیشتر بخوانید[ویرایش]

Viswanathan PC, Balser JR (Jan 2004). "Inherited sodium channelopathies: a continuum of channel dysfunction". Trends in Cardiovascular Medicine. 14 (1): 28–35. doi:10.1016/j.tcm.2003.10.001. PMID 14720472.
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.
Wolf CM, Berul CI (Apr 2006). "Inherited conduction system abnormalities--one group of diseases, many genes". Journal of Cardiovascular Electrophysiology. 17 (4): 446–55. doi:10.1111/j.1540-8167.2006.00427.x. PMID 16643374.

پیوند به بیرون[ویرایش]

SCN5A protein, human در سرعنوان‌های موضوعی پزشکی (MeSH) در کتابخانهٔ ملی پزشکی ایالات متحدهٔ آمریکا

این یک مقالهٔ خرد زیست‌شناسی مولکولی است. می‌توانید با گسترش آن به ویکی‌پدیا کمک کنید.

[refGRCm38Ensembl-1] ۱٫۰ ^۱٫۱ ^۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000032511 - 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.

[pmid_9521325-4] Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, Brugada P, et al. (Mar 1998). "Genetic basis and molecular mechanism for idiopathic ventricular fibrillation". Nature. 392 (6673): 293–6. doi:10.1038/32675. PMID 9521325.

[pmid_10590249-5] Bezzina C, Veldkamp MW, van Den Berg MP, Postma AV, Rook MB, Viersma JW, van Langen IM, Tan-Sindhunata G, Bink-Boelkens MT, van Der Hout AH, Mannens MM, Wilde AA (Dec 1999). "A single Na(+) channel mutation causing both long-QT and Brugada syndromes". Circulation Research. 85 (12): 1206–13. doi:10.1161/01.res.85.12.1206. PMID 10590249.

[pmid_17145985-6] ۶٫۰ ^۶٫۱ Remme CA, Verkerk AO, Nuyens D, van Ginneken AC, van Brunschot S, Belterman CN, Wilders R, van Roon MA, Tan HL, Wilde AA, Carmeliet P, de Bakker JM, Veldkamp MW, Bezzina CR (Dec 2006). "Overlap syndrome of cardiac sodium channel disease in mice carrying the equivalent mutation of human SCN5A-1795insD". Circulation. 114 (24): 2584–94. doi:10.1161/CIRCULATIONAHA.106.653949. PMID 17145985.

[pmid_10471492-7] Schott JJ, Alshinawi C, Kyndt F, Probst V, Hoorntje TM, Hulsbeek M, Wilde AA, Escande D, Mannens MM, Le Marec H (Sep 1999). "Cardiac conduction defects associate with mutations in SCN5A". Nature Genetics. 23 (1): 20–1. doi:10.1038/12618. PMID 10471492.

[pmid_11234013-8] Tan HL, Bink-Boelkens MT, Bezzina CR, Viswanathan PC, Beaufort-Krol GC, van Tintelen PJ, van den Berg MP, Wilde AA, Balser JR (Feb 2001). "A sodium-channel mutation causes isolated cardiac conduction disease". Nature. 409 (6823): 1043–7. doi:10.1038/35059090. PMID 11234013.

[pmid_15466643-9] McNair WP, Ku L, Taylor MR, Fain PR, Dao D, Wolfel E, Mestroni L (Oct 2004). "SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia". Circulation. 110 (15): 2163–7. doi:10.1161/01.CIR.0000144458.58660.BB. PMID 15466643.

[pmid_22766342-10] ۱۰٫۰ ^۱۰٫۱ Laurent G, Saal S, Amarouch MY, Béziau DM, Marsman RF, Faivre L, Barc J, Dina C, Bertaux G, Barthez O, Thauvin-Robinet C, Charron P, Fressart V, Maltret A, Villain E, Baron E, Mérot J, Turpault R, Coudière Y, Charpentier F, Schott JJ, Loussouarn G, Wilde AA, Wolf JE, Baró I, Kyndt F, Probst V (Jul 2012). "Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy". Journal of the American College of Cardiology. 60 (2): 144–56. doi:10.1016/j.jacc.2012.02.052. PMID 22766342.

[pmid_14523039-11] Benson DW, Wang DW, Dyment M, Knilans TK, Fish FA, Strieper MJ, Rhodes TH, George AL (Oct 2003). "Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)". The Journal of Clinical Investigation. 112 (7): 1019–28. doi:10.1172/JCI18062. PMC 198523. PMID 14523039.

[pmid_18929244-12] Makiyama T, Akao M, Shizuta S, Doi T, Nishiyama K, Oka Y, Ohno S, Nishio Y, Tsuji K, Itoh H, Kimura T, Kita T, Horie M (Oct 2008). "A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation". Journal of the American College of Cardiology. 52 (16): 1326–34. doi:10.1016/j.jacc.2008.07.013. PMID 18929244.

[pmid_7889574-13] Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, Moss AJ, Towbin JA, Keating MT (Mar 1995). "SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome". Cell. 80 (5): 805–11. doi:10.1016/0092-8674(95)90359-3. PMID 7889574.

[pmid_22999724-14] Mann SA, Castro ML, Ohanian M, Guo G, Zodgekar P, Sheu A, Stockhammer K, Thompson T, Playford D, Subbiah R, Kuchar D, Aggarwal A, Vandenberg JI, Fatkin D (Oct 2012). "R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy". Journal of the American College of Cardiology. 60 (16): 1566–73. doi:10.1016/j.jacc.2012.05.050. PMID 22999724.

[Beyder_2016-15] Beyder A, Farrugia G (2016). "Ion channelopathies in functional GI disorders". American Journal of Physiology. Gastrointestinal and Liver Physiology. 311 (4): G581–G586. doi:10.1152/ajpgi.00237.2016. PMC 5142191. PMID 27514480.

[pmid25898860-16] Verstraelen TE, Ter Bekke RM, Volders PG, Masclee AA, Kruimel JW (2015). "The role of the SCN5A-encoded channelopathy in irritable bowel syndrome and other gastrointestinal disorders". Neurogastroenterology and Motility : the Official Journal of the European Gastrointestinal Motility Society. 27 (7): 906–13. doi:10.1111/nmo.12569. PMID 25898860.

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