Picollo Alessandra, Malvezzi Mattia, Accardi Alessio
Department of Anesthesiology, Weill Cornell Medical College, 1300 York Avenue, New York, NY 10065, USA.
Department of Physiology and Biophysics, Weill Cornell Medical College, 1300 York Avenue, New York, NY 10065, USA.
J Mol Biol. 2015 Jan 16;427(1):94-105. doi: 10.1016/j.jmb.2014.09.028. Epub 2014 Oct 17.
The TMEM16 family of membrane proteins, also known as anoctamins, plays key roles in a variety of physiological functions that range from ion transport to phospholipid scrambling and to regulating other ion channels. The first two family members to be functionally characterized, TMEM16A (ANO1) and TMEM16B (ANO2), form Ca(2+)-activated Cl(-) channels and are important for transepithelial ion transport, olfaction, phototransduction, smooth muscle contraction, nociception, cell proliferation and control of neuronal excitability. The roles of other family members, such as TMEM16C (ANO3), TMEM16D (ANO4), TMEM16F (ANO6), TMEM16G (ANO7) and TMEM16J (ANO9), remain poorly understood and controversial. These homologues were reported to be phospholipid scramblases, ion channels, to have both functions or to be regulatory subunits of other channels. Mutations in TMEM16F cause Scott syndrome, a bleeding disorder caused by impaired Ca(2+)-dependent externalization of phosphatidylserine in activated platelets, suggesting that this homologue might be a scramblase. However, overexpression of TMEM16F has also been associated with a remarkable number of different ion channel types, raising the possibility that this protein might be involved in both ion and lipid transports. The recent identification of an ancestral TMEM16 homologue with intrinsic channel and scramblase activities supports this hypothesis. Thus, the TMEM16 family might have diverged in two or three different subclasses, channels, scramblases and dual-function channel/scramblases. The structural bases and functional implication of such a functional diversity within a single protein family remain to be elucidated and the links between TMEM16 functions and human physiology and pathologies need to be investigated.
跨膜蛋白16(TMEM16)家族,也被称为anoctamins,在从离子运输到磷脂翻转以及调节其他离子通道等多种生理功能中发挥关键作用。最早在功能上得到表征的两个家族成员,即TMEM16A(ANO1)和TMEM16B(ANO2),形成钙激活氯离子通道,对跨上皮离子运输、嗅觉、光转导、平滑肌收缩、伤害感受、细胞增殖以及神经元兴奋性的控制都很重要。其他家族成员,如TMEM16C(ANO3)、TMEM16D(ANO4)、TMEM16F(ANO6)、TMEM16G(ANO7)和TMEM16J(ANO9)的作用仍知之甚少且存在争议。据报道,这些同源物是磷脂翻转酶、离子通道,兼具这两种功能或者是其他通道的调节亚基。TMEM16F中的突变会导致斯科特综合征,这是一种由活化血小板中依赖钙的磷脂酰丝氨酸外化受损引起的出血性疾病,这表明该同源物可能是一种翻转酶。然而,TMEM16F的过表达也与大量不同类型的离子通道相关,这增加了该蛋白可能参与离子和脂质运输的可能性。最近鉴定出一种具有内在通道和翻转酶活性的原始TMEM16同源物支持了这一假设。因此,TMEM16家族可能已经分化为两个或三个不同的亚类,即通道、翻转酶和兼具通道/翻转酶双重功能的蛋白。单个蛋白家族内这种功能多样性的结构基础和功能意义仍有待阐明,并且需要研究TMEM16功能与人类生理和病理之间的联系。