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KCNH2 Q12809

电压门控内向整流钾通道 KCNH2 (Eag同源物) (Ether-a-go-go相关基因钾通道 1) (ERG-1) (Eag相关蛋白 1) (Ether-a-go-go相关蛋白 1) (H-ERG) (hERG-1) (hERG1) (钾电压门控通道亚家族H成员2) (电压门控钾通道亚基 Kv11.1)

蛋白质信息 (UniProt)

电压门控内向整流钾通道 KCNH2 (Eag同源物) (Ether-a-go-go相关基因钾通道 1) (ERG-1) (Eag相关蛋白 1) (Ether-a-go-go相关蛋白 1) (H-ERG) (hERG-1) (hERG1) (钾电压门控通道亚家族H成员2) (电压门控钾通道亚基 Kv11.1)

Q12809

功能描述

电压门控内向整流钾通道的成孔(α)亚基 (PubMed:10219239, PubMed:10753933, PubMed:10790218, PubMed:10837251, PubMed:11997281, PubMed:12063277, PubMed:18559421, PubMed:22314138, PubMed:22359612, PubMed:26363003, PubMed:27916661, PubMed:9230439, PubMed:9351446, PubMed:9765245)。通道特性受cAMP和亚基组装调节 (PubMed:10837251)。其特征在于独特的门控动力学,即在膜去极化期间产生相对较小的外向电流,而在随后的复极化期间产生较大的内向电流,这反映了去极化期间的快速失活、失活后的快速恢复以及复极化期间缓慢的去活化(关闭) (PubMed:10219239, PubMed:10753933, PubMed:10790218, PubMed:10837251, PubMed:11997281, PubMed:12063277, PubMed:18559421, PubMed:22314138, PubMed:22359612, PubMed:26363003, PubMed:27916661, PubMed:9230439, PubMed:9351446, PubMed:9765245)。与KCNE1或KCNE2形成稳定的复合物,这种异源多聚化调节内向整流钾通道活性 (PubMed:10219239, PubMed:9230439)。 {ECO:0000269|PubMed:10219239, ECO:0000269|PubMed:10753933, ECO:0000269|PubMed:10790218, ECO:0000269|PubMed:10837251, ECO:0000269|PubMed:11997281, ECO:0000269|PubMed:12063277, ECO:0000269|PubMed:18559421, ECO:0000269|PubMed:22314138, ECO:0000269|PubMed:22359612, ECO:0000269|PubMed:26363003, ECO:0000269|PubMed:27916661, ECO:0000269|PubMed:9230439, ECO:0000269|PubMed:9351446, ECO:0000269|PubMed:9765245}.; FUNCTION: [Isoform A-USO]: 本身无内向整流钾通道活性,但通过与其他亚基形成异源四聚体来调节通道特性,这些异源四聚体滞留在细胞内并经历泛素依赖性降解。 {ECO:0000269|PubMed:18559421, ECO:0000269|PubMed:9765245}.; FUNCTION: [Isoform B-USO]: 本身无内向整流钾通道活性,但通过与其他亚基形成异源四聚体来调节通道特性,这些异源四聚体滞留在细胞内并经历泛素依赖性降解。 {ECO:0000269|PubMed:18559421}.

组织特异性

Highly expressed in heart and brain. Isoforms USO are frequently overexpressed in cancer cells.

亚细胞定位

Cell membrane

关键词

3D-structure Alternative splicing Cell membrane Coiled coil Deafness Disease variant Glycoprotein Ion channel Ion transport Long QT syndrome