Roskoski Robert
Department of Biochemistry and Molecular Biology, Louisiana State University Health Sciences Center, 1100 Florida Avenue, New Orleans, LA 70119, USA.
Biochem Biophys Res Commun. 2005 Dec 23;338(3):1307-15. doi: 10.1016/j.bbrc.2005.09.150. Epub 2005 Oct 4.
Signaling by stem cell factor and Kit, its receptor, play important roles in gametogenesis, hematopoiesis, mast cell development and function, and melanogenesis. Moreover, human and mouse embryonic stem cells express Kit transcripts. Stem cell factor exists as both a soluble and a membrane-bound glycoprotein while Kit is a glycoprotein receptor protein-tyrosine kinase. The complete absence of stem cell factor or Kit is lethal. Gain-of-function mutations of Kit are associated with several human neoplasms including acute myelogenous leukemia, gastrointestinal stromal tumors, mastocytomas, and nasal T-cell lymphomas. Binding of stem cell factor to Kit results in receptor dimerization and activation of protein kinase activity. The activated receptor becomes autophosphorylated at tyrosine residues that serve as docking sites for signal transduction molecules containing SH2 domains. Kit activates Akt, Src family kinases, phosphatidylinositol 3-kinase, phospholipase Cgamma, and Ras/mitogen-activated protein kinases. Kit exists in active and inactive conformations as determined by X-ray crystallography. Kit consists of an extracellular domain, a transmembrane segment, a juxtamembrane domain, and a protein kinase domain that contains an insert of about 80 amino acid residues. The juxtamembrane domain inhibits enzyme activity in cis by maintaining the control alphaC-helix and the activation loop in their inactive conformations. The juxtamembrane domain also inhibits receptor dimerization. STI-571, a clinically effective targeted protein-tyrosine kinase inhibitor, binds to an inactive conformation of Kit. The majority of human gastrointestinal stromal tumors have Kit gain-of-function mutations in the juxtamembrane domain, and most people with these tumors respond to STI-571. STI-571 binds to Kit and Bcr-Abl (the oncoprotein of chronic myelogenous leukemia) at their ATP-binding sites.
干细胞因子及其受体Kit介导的信号传导在配子发生、造血作用、肥大细胞发育及功能以及黑素生成过程中发挥着重要作用。此外,人和小鼠胚胎干细胞表达Kit转录本。干细胞因子以可溶性和膜结合糖蛋白两种形式存在,而Kit是一种糖蛋白受体蛋白酪氨酸激酶。完全缺乏干细胞因子或Kit是致死性的。Kit的功能获得性突变与多种人类肿瘤相关,包括急性髓性白血病、胃肠道间质瘤、肥大细胞瘤和鼻T细胞淋巴瘤。干细胞因子与Kit结合导致受体二聚化并激活蛋白激酶活性。激活的受体在酪氨酸残基处发生自身磷酸化,这些酪氨酸残基作为含有SH2结构域的信号转导分子的对接位点。Kit激活Akt、Src家族激酶、磷脂酰肌醇3激酶、磷脂酶Cγ以及Ras/丝裂原活化蛋白激酶。通过X射线晶体学确定,Kit以活性和非活性构象存在。Kit由一个细胞外结构域、一个跨膜区段、一个近膜结构域和一个蛋白激酶结构域组成,该蛋白激酶结构域含有一段约80个氨基酸残基的插入序列。近膜结构域通过维持调控性αC螺旋和激活环处于非活性构象,在顺式作用下抑制酶活性。近膜结构域还抑制受体二聚化。STI-571是一种临床有效的靶向蛋白酪氨酸激酶抑制剂,它与Kit的非活性构象结合。大多数人类胃肠道间质瘤在近膜结构域存在Kit功能获得性突变,大多数患有这些肿瘤的人对STI-571有反应。STI-571在其ATP结合位点与Kit和Bcr-Abl(慢性髓性白血病的癌蛋白)结合。