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 conversion of prohormone thyroxine (3,5,3',5'-tetraiodothyronine, T4) by 5'-deiodination to the bioactive thyroid hormone (3,5,3'-triiodothyronine, T3), which is essential for growth, differentiation and basal metabolism in vertebrates. It is expressed predominantly in liver and kidney and provides most of the circulating T3. This protein contains a selenocysteine (Sec) residue at its active site that 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, Apr 2016]
GeneCards Summary for DIO1 Gene
DIO1 (Deiodinase, Iodothyronine Type I) is a Protein Coding gene. Among its related pathways are Thyroid hormone signaling pathway and Amine-derived hormones. GO annotations related to this gene include selenium binding and thyroxine 5-deiodinase activity. An important paralog of this gene is DIO3.
UniProtKB/Swiss-Prot 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.