DIO1 - iodothyronine deiodinase 1 Gene

中文名称：碘甲腺原氨酸脱碘酶 1

种属: Homo sapiens

同用名: 5DI; THMA2; TXDI1

关于 DIO1

功能概要

该基因编码的蛋白质属于碘甲腺原氨酸脱碘酶家族。它分别通过外环和内环脱碘作用催化甲状腺激素的激活和失活。激活反应涉及甲状腺分泌的激素原甲状腺素 (3,5,3',5'-四碘甲状腺原氨酸，T4) 通过以下途径转化为具有生物活性的甲状腺激素 (3,5,3'-三碘甲状腺原氨酸，T3) 5'-脱碘。这种蛋白质提供了大部分循环 T3，这对脊椎动物的生长、分化和基础代谢至关重要。这种蛋白质是一种硒蛋白，在其活性位点含有稀有氨基酸硒代半胱氨酸 (Sec) 。 Sec 由 UGA 密码子编码，通常表示翻译终止。硒蛋白 mRNA 的 3' UTR 包含一个保守的茎环结构，称为 Sec 插入序列 (SECIS) 元件，这是将 UGA 识别为 Sec 密码子而不是终止信号所必需的。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2018 年 6 月]

The protein encoded by this gene belongs to the iodothyronine deiodinase family. It catalyzes the activation, as well as the inactivation of thyroid hormone by outer and inner ring deiodination, respectively. The activation reaction involves the conversion of the prohormone thyroxine (3,5,3',5'-tetraiodothyronine, T4), secreted by the thyroid gland, to the bioactive thyroid hormone (3,5,3'-triiodothyronine, T3) by 5'-deiodination. This protein provides most of the circulating T3, which is essential for growth, differentiation and basal metabolism in vertebrates. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2018]