SCN5A |
---|
|
Наявні структури |
---|
PDB | Пошук ортологів: PDBe RCSB | Список кодів PDB | 2KBI, 2L53, 4DCK, 4DJC, 4JQ0, 4OVN | | |
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[1] |
|
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[2] |
Онтологія гена |
---|
Молекулярна функція | • 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 binding |
---|
Клітинна компонента | • voltage-gated sodium channel complex • integral component of membrane • lateral plasma membrane • мембрана • intercalated disc • T-tubule • внутрішньоклітинний • cell surface • Z discdkac • ендоплазматичний ретикулум • caveola • Сарколема • клітинна мембрана • цитоплазма • perinuclear region of cytoplasm • аксон |
---|
Біологічний процес | • 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 • регуляція серцевого ритму • 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 • трансмембранний транспорт • 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 |
---|
Джерела:Amigo / QuickGO | |
Ортологи |
---|
Види | Людина | Миша |
---|
Entrez | | |
---|
Ensembl | | |
---|
UniProt | | |
---|
RefSeq (мРНК) | NM_000335 NM_001099404 NM_001099405 NM_001160160 NM_001160161
| NM_198056 NM_001354701 |
| |
---|
RefSeq (білок) | NP_000326 NP_001092874 NP_001092875 NP_001153632 NP_001153633
| NP_932173 NP_001341630 |
| |
---|
Локус (UCSC) | Хр. 3: 38.55 – 38.65 Mb | Хр. 9: 119.31 – 119.41 Mb |
---|
PubMed search | [3] | [4] |
---|
Вікідані |
Див./Ред. для людей | Див./Ред. для мишей |
|