CACNA1C |
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Наявні структури |
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PDB | Пошук ортологів: PDBe RCSB | Список кодів PDB | 1T0J, 2BE6, 2F3Z, 2LQC, 3G43, 3OXQ | | |
Ідентифікатори |
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Символи | CACNA1C, CACH2, CACN2, CACNL1A1, CCHL1A1, CaV1.2, LQT8, TS, calcium voltage-gated channel subunit alpha1 C, TS. LQT8 |
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Зовнішні ІД | OMIM: 114205 MGI: 103013 HomoloGene: 55484 GeneCards: CACNA1C |
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Пов'язані генетичні захворювання |
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шизофренія, біполярний афективний розлад, великий депресивний розлад, unipolar depression, Timothy syndrome, Brugada syndrome 3[1] |
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Реагує на сполуку |
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(3RS,4′RS)-benidipine, Лацидипін[2] |
дилтіазем, mibefradil, верапаміл, ніфедипін, (RS)-nisoldipine[3] |
Онтологія гена |
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Молекулярна функція | • calcium channel activity • зв'язування з іоном металу • voltage-gated ion channel activity • ion channel activity • GO:0001948, GO:0016582 protein binding • alpha-actinin binding • voltage-gated calcium channel activity • voltage-gated calcium channel activity involved in cardiac muscle cell action potential • high voltage-gated calcium channel activity • voltage-gated calcium channel activity involved in AV node cell action potential • calmodulin binding |
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Клітинна компонента | • цитоплазма • voltage-gated calcium channel complex • integral component of membrane • мембрана • GO:0097483, GO:0097481 постсинаптичне ущільнення • клітинна мембрана • Z discdkac • L-type voltage-gated calcium channel complex • integral component of plasma membrane • міжклітинні контакти • дендрит (нейробіологія) • Сарколема • cell projection • перикаріон • синапс • postsynaptic membrane • T-tubule |
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Біологічний процес | • calcium ion transport into cytosol • regulation of insulin secretion • regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion • positive regulation of cytosolic calcium ion concentration • cell communication by electrical coupling involved in cardiac conduction • regulation of ion transmembrane transport • ion transport • calcium-mediated signaling using extracellular calcium source • трансмембранний транспорт • calcium ion transport • regulation of ventricular cardiac muscle cell action potential • embryonic forelimb morphogenesis • immune system development • regulation of heart rate by cardiac conduction • membrane depolarization during cardiac muscle cell action potential • calcium ion transmembrane transport via high voltage-gated calcium channel • membrane depolarization during AV node cell action potential • heart development • membrane depolarization during atrial cardiac muscle cell action potential • cardiac muscle cell action potential involved in contraction • calcium ion transmembrane transport • camera-type eye development • cardiac conduction • calcium ion import • positive regulation of adenylate cyclase activity |
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Джерела:Amigo / QuickGO | |
Ортологи |
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Види | Людина | Миша |
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Entrez | | |
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Ensembl | | ENSG00000151067 ENSG00000285479 |
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UniProt | | |
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RefSeq (мРНК) | NM_000719 NM_001129827 NM_001129829 NM_001129830 NM_001129831
| NM_001129832 NM_001129833 NM_001129834 NM_001129835 NM_001129836 NM_001129837 NM_001129838 NM_001129839 NM_001129840 NM_001129841 NM_001129842 NM_001129843 NM_001129844 NM_001129846 NM_001167623 NM_001167624 NM_001167625 NM_199460 |
| NM_001159533 NM_001159534 NM_001159535 NM_001255997 NM_001255998
| NM_001255999 NM_001256000 NM_001256001 NM_001256002 NM_009781 NM_001290335 |
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RefSeq (білок) | NP_000710 NP_001123299 NP_001123301 NP_001123302 NP_001123303
| NP_001123304 NP_001123305 NP_001123306 NP_001123307 NP_001123308 NP_001123309 NP_001123310 NP_001123311 NP_001123312 NP_001123313 NP_001123314 NP_001123315 NP_001123316 NP_001123318 NP_001161095 NP_001161096 NP_001161097 NP_955630 |
| NP_001153005 NP_001153006 NP_001153007 NP_001242926 NP_001242927
| NP_001242928 NP_001242929 NP_001242930 NP_001242931 NP_001277264 NP_033911 |
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Локус (UCSC) | Хр. 12: 1.97 – 2.7 Mb | Хр. 6: 118.56 – 119.17 Mb |
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PubMed search | [4] | [5] |
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Вікідані |
Див./Ред. для людей | Див./Ред. для мишей |
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