Aliases for DIO1 Gene
External Ids for DIO1 Gene
Previous HGNC Symbols for DIO1 Gene
Previous GeneCards Identifiers for DIO1 Gene
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]
GeneCards Summary for DIO1 Gene
DIO1 (Iodothyronine Deiodinase 1) is a Protein Coding gene. Diseases associated with DIO1 include Euthyroid Sick Syndrome and Mccune-Albright Syndrome. Among its related pathways are Thyroid hormone signaling pathway and Metabolism. Gene Ontology (GO) annotations related to this gene include selenium binding and thyroxine 5'-deiodinase activity. An important paralog of this gene is DIO2.
UniProtKB/Swiss-Prot Summary for DIO1 Gene
Responsible for the deiodination of T4 (3,5,3',5'-tetraiodothyronine) into T3 (3,5,3'-triiodothyronine) and of T3 into T2 (3,3'-diiodothyronine). Plays a role in providing a source of plasma T3 by deiodination of T4 in peripheral tissues such as liver and kidney.