CFTR P13569

囊性纤维化跨膜传导调节因子 (CFTR) (ATP结合盒亚家族C成员7) (通道传导控制ATP酶) (EC 5.6.1.6) (cAMP依赖性氯通道)

功能描述

上皮离子通道，在上皮离子和水转运及液体稳态的调节中起重要作用 (PubMed:26823428)。介导氯离子跨细胞膜转运 (PubMed:10792060, PubMed:11524016, PubMed:11707463, PubMed:12519745, PubMed:12529365, PubMed:12588899, PubMed:12727866, PubMed:15010471, PubMed:17036051, PubMed:1712898, PubMed:17182731, PubMed:19398555, PubMed:19621064, PubMed:22178883, PubMed:25330774, PubMed:26846474, PubMed:28087700, PubMed:8910473, PubMed:9804160)。具有内在ATP酶活性并利用ATP对其通道进行门控；阴离子通过通道的被动流动受ATP结合结构域的ATP结合和水解循环门控 (PubMed:11524016, PubMed:15284228, PubMed:26627831, PubMed:8910473)。该离子通道对HCO(3)(-)也具有通透性；选择性取决于细胞外氯离子浓度 (PubMed:15010471, PubMed:19019741)。在体外，介导ATP依赖性谷胱甘肽通量 (PubMed:12727866)。也通过调节其他离子通道和转运蛋白的活性来发挥其功能 (PubMed:12403779, PubMed:22121115, PubMed:22178883, PubMed:27941075)。在气道液体稳态中起重要作用 (PubMed:16645176, PubMed:19621064, PubMed:26823428)。有助于调节气道表面液体层的pH值和离子含量，从而在防御病原体方面发挥重要作用 (PubMed:14668433, PubMed:16645176, PubMed:26823428)。调节上皮钠通道(ENaC)复合物的活性，部分通过调节ENaC复合物的细胞表面表达来实现 (PubMed:17182731, PubMed:17434346, PubMed:27941075)。抑制含有亚基SCNN1A、SCNN1B和SCNN1G的ENaC通道活性 (PubMed:17182731)。抑制含有亚基SCNN1D、SCNN1B和SCNN1G的ENaC通道活性，但不抑制含有亚基SCNN1A、SCNN1B和SCNN1G的ENaC通道活性 (PubMed:17182731, PubMed:27941075)。可能通过调节转运蛋白SLC4A7来调节上皮细胞中碳酸氢盐的分泌和回收 (PubMed:12403779)。能抑制ANO1的氯通道活性 (PubMed:22178883)。在精子附睾成熟和获能期间的氯离子和碳酸氢盐稳态中发挥作用 (PubMed:19923167, PubMed:27714810, PubMed:29393851)。 {ECO:0000269|PubMed:10792060, ECO:0000269|PubMed:11524016, ECO:0000269|PubMed:11707463, ECO:0000269|PubMed:12403779, ECO:0000269|PubMed:12519745, ECO:0000269|PubMed:12529365, ECO:0000269|PubMed:12588899, ECO:0000269|PubMed:12727866, ECO:0000269|PubMed:14668433, ECO:0000269|PubMed:15010471, ECO:0000269|PubMed:15284228, ECO:0000269|PubMed:16645176, ECO:0000269|PubMed:17036051, ECO:0000269|PubMed:1712898, ECO:0000269|PubMed:17182731, ECO:0000269|PubMed:19019741, ECO:0000269|PubMed:19398555, ECO:0000269|PubMed:19621064, ECO:0000269|PubMed:22178883, ECO:0000269|PubMed:25330774, ECO:0000269|PubMed:26627831, ECO:0000269|PubMed:26823428, ECO:0000269|PubMed:26846474, ECO:0000269|PubMed:27714810, ECO:0000269|PubMed:27941075, ECO:0000269|PubMed:28087700, ECO:0000269|PubMed:29393851, ECO:0000269|PubMed:8910473, ECO:0000269|PubMed:9804160, ECO:0000305|PubMed:19923167}.

组织特异性

Expressed in the respiratory airway, including bronchial epithelium, and in the female reproductive tract, including oviduct (at protein level) (PubMed:15716351, PubMed:22207244). Detected in pancreatic intercalated ducts in the exocrine tissue, on epithelial cells in intralobular striated ducts in sublingual salivary glands, on apical membranes of crypt cells throughout the small and large intestine, and on the reabsorptive duct in eccrine sweat glands (PubMed:1284548, PubMed:28130590). Detected on the equatorial segment of the sperm head (at protein level) (PubMed:19923167). Detected in nasal and bronchial superficial epithelium (PubMed:15716351). Expressed by the central cells on the sebaceous glands, dermal adipocytes and, at lower levels, by epithelial cells (PubMed:28130590).

亚细胞定位

Apical cell membrane