Aliases for DIO1 Gene
External Ids for DIO1 Gene
Previous Symbols for DIO1 Gene
The protein encoded by this gene is a thiol-requiring propylthiouracil-sensitive oxidoreductase. It activates thyroid hormone by converting the prohormone thyroxine (T4) by outer ring deiodination (ORD) to bioactive 3,3',5-triiodothyronine (T3). It also degrades both hormones by inner ring deiodination (IRD). Alternative splicing results in multiple transcript variants encoding different isoforms. Some, but not all, isoforms contain a selenocysteine (Sec) residue encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Additional transcript variants have been described but are not supported by experimental evidence. [provided by RefSeq, Jul 2008]
GeneCards Summary for DIO1 Gene
DIO1 (Deiodinase, Iodothyronine, Type I) is a Protein Coding gene. Diseases associated with DIO1 include keshan disease and euthyroid sick syndrome. Among its related pathways are Metabolism and Metabolism of amino acids and derivatives. GO annotations related to this gene include selenium binding and thyroxine 5-deiodinase activity.
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