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SCN5A англ Sodium voltage gated channel alpha subunit 5 білок який кодується однойменним геном розташованим у людей на к

SCN5A

SCN5A (англ. Sodium voltage-gated channel alpha subunit 5) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 3-ї хромосоми. Довжина поліпептидного ланцюга білка становить 2 016 амінокислот, а молекулярна маса — 226 940.

SCN5A
Наявні структури
PDBПошук ортологів: PDBe RCSB
Ідентифікатори
Символи SCN5A, CDCD2, CMD1E, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, VF1, sodium voltage-gated channel alpha subunit 5
Зовнішні ІД OMIM: 600163 MGI: 98251 HomoloGene: 22738 GeneCards: SCN5A
Пов'язані генетичні захворювання
long QT syndrome 3, Brugada syndrome 1, синдром раптової дитячої смерті, dilated cardiomyopathy 1E, миготіння передсердь, heart conduction disease, аритмії серця, idiopathic ventricular fibrillation, non Brugada type, Romano–Ward syndrome, progressive familial heart block
Реагує на сполуку
Аконітин, лідокаїн, mephenytoin, dibucaine hydrochloride, indecainide, oxybuprocaine, окскарбазепін, Irampanel, dichlorobenzyl alcohol, priralfinamide, Evenamide, лідокаїн, зонісамід, топірамат, chloroprocaine hydrochloride, eslicarbazepine, flecainide acetate, quinidine gluconate, disopyramide phosphate, dyclonine hydrochloride, mepivacaine hydrochloride, (RS)-mexiletine hydrochloride, orphenadrine citrate, procainamide hydrochloride, propafenone hydrochloride, benoxinate hydrochloride, prilocaine hydrochloride
Ортологи
Види Людина Миша
Entrez
6331
20271
Ensembl
UniProt
RefSeq (мРНК)
RefSeq (білок)
Локус (UCSC) Хр. 3: 38.55 – 38.65 Mb Хр. 9: 119.31 – 119.41 Mb
PubMed search
Вікідані
Див./Ред. для людейДив./Ред. для мишей
Послідовність амінокислот
1020304050
MANFLLPRGTSSFRRFTRESLAAIEKRMAEKQARGSTTLQESREGLPEEE
APRPQLDLQASKKLPDLYGNPPQELIGEPLEDLDPFYSTQKTFIVLNKGK
TIFRFSATNALYVLSPFHPIRRAAVKILVHSLFNMLIMCTILTNCVFMAQ
HDPPPWTKYVEYTFTAIYTFESLVKILARGFCLHAFTFLRDPWNWLDFSV
IIMAYTTEFVDLGNVSALRTFRVLRALKTISVISGLKTIVGALIQSVKKL
ADVMVLTVFCLSVFALIGLQLFMGNLRHKCVRNFTALNGTNGSVEADGLV
WESLDLYLSDPENYLLKNGTSDVLLCGNSSDAGTCPEGYRCLKAGENPDH
GYTSFDSFAWAFLALFRLMTQDCWERLYQQTLRSAGKIYMIFFMLVIFLG
SFYLVNLILAVVAMAYEEQNQATIAETEEKEKRFQEAMEMLKKEHEALTI
RGVDTVSRSSLEMSPLAPVNSHERRSKRRKRMSSGTEECGEDRLPKSDSE
DGPRAMNHLSLTRGLSRTSMKPRSSRGSIFTFRRRDLGSEADFADDENST
AGESESHHTSLLVPWPLRRTSAQGQPSPGTSAPGHALHGKKNSTVDCNGV
VSLLGAGDPEATSPGSHLLRPVMLEHPPDTTTPSEEPGGPQMLTSQAPCV
DGFEEPGARQRALSAVSVLTSALEELEESRHKCPPCWNRLAQRYLIWECC
PLWMSIKQGVKLVVMDPFTDLTITMCIVLNTLFMALEHYNMTSEFEEMLQ
VGNLVFTGIFTAEMTFKIIALDPYYYFQQGWNIFDSIIVILSLMELGLSR
MSNLSVLRSFRLLRVFKLAKSWPTLNTLIKIIGNSVGALGNLTLVLAIIV
FIFAVVGMQLFGKNYSELRDSDSGLLPRWHMMDFFHAFLIIFRILCGEWI
ETMWDCMEVSGQSLCLLVFLLVMVIGNLVVLNLFLALLLSSFSADNLTAP
DEDREMNNLQLALARIQRGLRFVKRTTWDFCCGLLRQRPQKPAALAAQGQ
LPSCIATPYSPPPPETEKVPPTRKETRFEEGEQPGQGTPGDPEPVCVPIA
VAESDTDDQEEDEENSLGTEEESSKQQESQPVSGGPEAPPDSRTWSQVSA
TASSEAEASASQADWRQQWKAEPQAPGCGETPEDSCSEGSTADMTNTAEL
LEQIPDLGQDVKDPEDCFTEGCVRRCPCCAVDTTQAPGKVWWRLRKTCYH
IVEHSWFETFIIFMILLSSGALAFEDIYLEERKTIKVLLEYADKMFTYVF
VLEMLLKWVAYGFKKYFTNAWCWLDFLIVDVSLVSLVANTLGFAEMGPIK
SLRTLRALRPLRALSRFEGMRVVVNALVGAIPSIMNVLLVCLIFWLIFSI
MGVNLFAGKFGRCINQTEGDLPLNYTIVNNKSQCESLNLTGELYWTKVKV
NFDNVGAGYLALLQVATFKGWMDIMYAAVDSRGYEEQPQWEYNLYMYIYF
VIFIIFGSFFTLNLFIGVIIDNFNQQKKKLGGQDIFMTEEQKKYYNAMKK
LGSKKPQKPIPRPLNKYQGFIFDIVTKQAFDVTIMFLICLNMVTMMVETD
DQSPEKINILAKINLLFVAIFTGECIVKLAALRHYYFTNSWNIFDFVVVI
LSIVGTVLSDIIQKYFFSPTLFRVIRLARIGRILRLIRGAKGIRTLLFAL
MMSLPALFNIGLLLFLVMFIYSIFGMANFAYVKWEAGIDDMFNFQTFANS
MLCLFQITTSAGWDGLLSPILNTGPPYCDPTLPNSNGSRGDCGSPAVGIL
FFTTYIIISFLIVVNMYIAIILENFSVATEESTEPLSEDDFDMFYEIWEK
FDPEATQFIEYSVLSDFADALSEPLRIAKPNQISLINMDLPMVSGDRIHC
MDILFAFTKRVLGESGEMDALKIQMEEKFMAANPSKISYEPITTTLRRKH
EEVSAMVIQRAFRRHLLQRSLKHASFLFRQQAGSGLSEEDAPEREGLIAY
VMSENFSRPLGPPSSSSISSTSFPPSYDSVTRATSDNLQVRGSDYSHSED
LADFPPSPDRDRESIV

Кодований геном білок за функціями належить до іонних каналів, потенціалзалежних каналів, фосфопротеїнів. Задіяний у таких біологічних процесах як транспорт іонів, транспорт, транспорт натрію, поліморфізм, альтернативний сплайсинг. Білок має сайт для зв'язування з молекулою кальмодуліну, іоном натрію. Локалізований у клітинній мембрані, мембрані.

Література ред.

  • Ye B., Valdivia C.R., Ackerman M.J., Makielski J.C. (2003). A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.. Physiol. Genomics 12: 187 — 193.  PubMed DOI:10.1152/physiolgenomics.00117.2002
  • The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).. Genome Res. 14: 2121 — 2127. 2004.  PubMed DOI:10.1101/gr.2596504
  • Valdivia C.R., Ueda K., Ackerman M.J., Makielski J.C. (2009). GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A.. Am. J. Physiol. 297: H1446 — H1452.  PubMed DOI:10.1152/ajpheart.00513.2009
  • Zimmer T., Surber R. (2008). SCN5A channelopathies - An update on mutations and mechanisms.. Prog. Biophys. Mol. Biol. 98: 120 — 136.  PubMed DOI:10.1016/j.pbiomolbio.2008.10.005
  • Beltran-Alvarez P., Pagans S., Brugada R. (2011). The cardiac sodium channel is post-translationally modified by arginine methylation.. J. Proteome Res. 10: 3712 — 3719.  PubMed DOI:10.1021/pr200339n
  • Xiao Y., Blumenthal K., Cummins T.R. (2014). Gating-pore currents demonstrate selective and specific modulation of individual sodium channel voltage-sensors by biological toxins.. Mol. Pharmacol. 86: 159 — 167.  PubMed DOI:10.1124/mol.114.092338

Примітки ред.

  1. Захворювання, генетично пов'язані з SCN5A переглянути/редагувати посилання на ВікіДаних. 
  2. Сполуки, які фізично взаємодіють з Sodium voltage-gated channel alpha subunit 5 переглянути/редагувати посилання на ВікіДаних. 
  3. Human PubMed Reference:. 
  4. Mouse PubMed Reference:. 
  5. (англ.). Архів оригіналу за 10 жовтня 2017. Процитовано 30 серпня 2017. 
  6. (англ.). Архів оригіналу за 2 вересня 2017. Процитовано 30 серпня 2017. 

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Дата публікації:
SCN5A angl Sodium voltage gated channel alpha subunit 5 bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 3 yi hromosomi 5 Dovzhina polipeptidnogo lancyuga bilka stanovit 2 016 aminokislot a molekulyarna masa 226 940 6 SCN5ANayavni strukturiPDBPoshuk ortologiv PDBe RCSBSpisok kodiv PDB2KBI 2L53 4DCK 4DJC 4JQ0 4OVNIdentifikatoriSimvoliSCN5A CDCD2 CMD1E CMPD2 HB1 HB2 HBBD HH1 ICCD IVF LQT3 Nav1 5 PFHB1 SSS1 VF1 sodium voltage gated channel alpha subunit 5Zovnishni ID OMIM 600163 MGI 98251 HomoloGene 22738 GeneCards SCN5APov yazani genetichni zahvoryuvannyalong QT syndrome 3 Brugada syndrome 1 sindrom raptovoyi dityachoyi smerti dilated cardiomyopathy 1E migotinnya peredserd heart conduction disease aritmiyi sercya idiopathic ventricular fibrillation non Brugada type Romano Ward syndrome progressive familial heart block 1 Reaguye na spolukuAkonitin lidokayin mephenytoin dibucaine hydrochloride indecainide oxybuprocaine okskarbazepin Irampanel dichlorobenzyl alcohol priralfinamide Evenamide lidokayin zonisamid topiramat chloroprocaine hydrochloride eslicarbazepine flecainide acetate quinidine gluconate disopyramide phosphate dyclonine hydrochloride mepivacaine hydrochloride RS mexiletine hydrochloride orphenadrine citrate procainamide hydrochloride propafenone hydrochloride benoxinate hydrochloride prilocaine hydrochloride 2 Ontologiya genaMolekulyarna funkciya 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 protein binding 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 bindingKlitinna komponenta voltage gated sodium channel complex integral component of membrane lateral plasma membrane membrana intercalated disc T tubule vnutrishnoklitinnij cell surface Z disc endoplazmatichnij retikulum caveola Sarkolema klitinna membrana citoplazma perinuclear region of cytoplasm AksonBiologichnij proces 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 transmembrannij 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 conductionDzherela Amigo QuickGOOrtologiVidi Lyudina MishaEntrez6331 20271Ensembl ENSG00000183873 ENSMUSG00000032511UniProt Q14524 Q9JJV9RefSeq mRNK NM 000335NM 001099404NM 001099405NM 001160160NM 001160161NM 198056NM 001354701NM 001253860NM 021544RefSeq bilok NP 000326NP 001092874NP 001092875NP 001153632NP 001153633NP 932173NP 001341630NP 001240789NP 067519Lokus UCSC Hr 3 38 55 38 65 MbHr 9 119 31 119 41 MbPubMed search 3 4 VikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050MANFLLPRGTSSFRRFTRESLAAIEKRMAEKQARGSTTLQESREGLPEEEAPRPQLDLQASKKLPDLYGNPPQELIGEPLEDLDPFYSTQKTFIVLNKGKTIFRFSATNALYVLSPFHPIRRAAVKILVHSLFNMLIMCTILTNCVFMAQHDPPPWTKYVEYTFTAIYTFESLVKILARGFCLHAFTFLRDPWNWLDFSVIIMAYTTEFVDLGNVSALRTFRVLRALKTISVISGLKTIVGALIQSVKKLADVMVLTVFCLSVFALIGLQLFMGNLRHKCVRNFTALNGTNGSVEADGLVWESLDLYLSDPENYLLKNGTSDVLLCGNSSDAGTCPEGYRCLKAGENPDHGYTSFDSFAWAFLALFRLMTQDCWERLYQQTLRSAGKIYMIFFMLVIFLGSFYLVNLILAVVAMAYEEQNQATIAETEEKEKRFQEAMEMLKKEHEALTIRGVDTVSRSSLEMSPLAPVNSHERRSKRRKRMSSGTEECGEDRLPKSDSEDGPRAMNHLSLTRGLSRTSMKPRSSRGSIFTFRRRDLGSEADFADDENSTAGESESHHTSLLVPWPLRRTSAQGQPSPGTSAPGHALHGKKNSTVDCNGVVSLLGAGDPEATSPGSHLLRPVMLEHPPDTTTPSEEPGGPQMLTSQAPCVDGFEEPGARQRALSAVSVLTSALEELEESRHKCPPCWNRLAQRYLIWECCPLWMSIKQGVKLVVMDPFTDLTITMCIVLNTLFMALEHYNMTSEFEEMLQVGNLVFTGIFTAEMTFKIIALDPYYYFQQGWNIFDSIIVILSLMELGLSRMSNLSVLRSFRLLRVFKLAKSWPTLNTLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKNYSELRDSDSGLLPRWHMMDFFHAFLIIFRILCGEWIETMWDCMEVSGQSLCLLVFLLVMVIGNLVVLNLFLALLLSSFSADNLTAPDEDREMNNLQLALARIQRGLRFVKRTTWDFCCGLLRQRPQKPAALAAQGQLPSCIATPYSPPPPETEKVPPTRKETRFEEGEQPGQGTPGDPEPVCVPIAVAESDTDDQEEDEENSLGTEEESSKQQESQPVSGGPEAPPDSRTWSQVSATASSEAEASASQADWRQQWKAEPQAPGCGETPEDSCSEGSTADMTNTAELLEQIPDLGQDVKDPEDCFTEGCVRRCPCCAVDTTQAPGKVWWRLRKTCYHIVEHSWFETFIIFMILLSSGALAFEDIYLEERKTIKVLLEYADKMFTYVFVLEMLLKWVAYGFKKYFTNAWCWLDFLIVDVSLVSLVANTLGFAEMGPIKSLRTLRALRPLRALSRFEGMRVVVNALVGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFGRCINQTEGDLPLNYTIVNNKSQCESLNLTGELYWTKVKVNFDNVGAGYLALLQVATFKGWMDIMYAAVDSRGYEEQPQWEYNLYMYIYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKLGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPLNKYQGFIFDIVTKQAFDVTIMFLICLNMVTMMVETDDQSPEKINILAKINLLFVAIFTGECIVKLAALRHYYFTNSWNIFDFVVVILSIVGTVLSDIIQKYFFSPTLFRVIRLARIGRILRLIRGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYSIFGMANFAYVKWEAGIDDMFNFQTFANSMLCLFQITTSAGWDGLLSPILNTGPPYCDPTLPNSNGSRGDCGSPAVGILFFTTYIIISFLIVVNMYIAIILENFSVATEESTEPLSEDDFDMFYEIWEKFDPEATQFIEYSVLSDFADALSEPLRIAKPNQISLINMDLPMVSGDRIHCMDILFAFTKRVLGESGEMDALKIQMEEKFMAANPSKISYEPITTTLRRKHEEVSAMVIQRAFRRHLLQRSLKHASFLFRQQAGSGLSEEDAPEREGLIAYVMSENFSRPLGPPSSSSISSTSFPPSYDSVTRATSDNLQVRGSDYSHSEDLADFPPSPDRDRESIVA Alanin C Cisteyin D Asparaginova kislota E Glutaminova kislota F Fenilalanin G Glicin H Gistidin I Izolejcin K Lizin L Lejcin M Metionin N Asparagin P Prolin Q Glutamin R Arginin S Serin T Treonin V Valin W Triptofan Y Tirozin Kodovanij genom bilok za funkciyami nalezhit do ionnih kanaliv potencialzalezhnih kanaliv fosfoproteyiniv Zadiyanij u takih biologichnih procesah yak transport ioniv transport transport natriyu polimorfizm alternativnij splajsing Bilok maye sajt dlya zv yazuvannya z molekuloyu kalmodulinu ionom natriyu Lokalizovanij u klitinnij membrani membrani Literatura red Ye B Valdivia C R Ackerman M J Makielski J C 2003 A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation Physiol Genomics 12 187 193 PubMed DOI 10 1152 physiolgenomics 00117 2002 The status quality and expansion of the NIH full length cDNA project the Mammalian Gene Collection MGC Genome Res 14 2121 2127 2004 PubMed DOI 10 1101 gr 2596504 Valdivia C R Ueda K Ackerman M J Makielski J C 2009 GPD1L links redox state to cardiac excitability by PKC dependent phosphorylation of the sodium channel SCN5A Am J Physiol 297 H1446 H1452 PubMed DOI 10 1152 ajpheart 00513 2009 Zimmer T Surber R 2008 SCN5A channelopathies An update on mutations and mechanisms Prog Biophys Mol Biol 98 120 136 PubMed DOI 10 1016 j pbiomolbio 2008 10 005 Beltran Alvarez P Pagans S Brugada R 2011 The cardiac sodium channel is post translationally modified by arginine methylation J Proteome Res 10 3712 3719 PubMed DOI 10 1021 pr200339n Xiao Y Blumenthal K Cummins T R 2014 Gating pore currents demonstrate selective and specific modulation of individual sodium channel voltage sensors by biological toxins Mol Pharmacol 86 159 167 PubMed DOI 10 1124 mol 114 092338Primitki red Zahvoryuvannya genetichno pov yazani z SCN5A pereglyanuti redaguvati posilannya na VikiDanih Spoluki yaki fizichno vzayemodiyut z Sodium voltage gated channel alpha subunit 5 pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference HUGO Gene Nomenclature Commitee HGNC 10593 angl Arhiv originalu za 10 zhovtnya 2017 Procitovano 30 serpnya 2017 UniProt Q14524 angl Arhiv originalu za 2 veresnya 2017 Procitovano 30 serpnya 2017 Div takozh red Hromosoma 3 nbsp Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi Otrimano z https uk wikipedia org w index php title SCN5A amp oldid 35722243