DIO1
iodothyronine deiodinase 1
Summary
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]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs751609426 | 1:54,360,016 | G/T | — | uncertain significance |
| rs767677380 | 1:54,360,019 | G/A | — | uncertain significance |
| rs375309412 | 1:54,360,026 | C/T | — | uncertain significance |
| rs1365292398 | 1:54,360,064 | T/C | — | uncertain significance |
| rs754392287 | 1:54,360,112 | G/A | — | uncertain significance |
| rs150957453 | 1:54,360,115 | C/T | — | uncertain significance |
| rs754694815 | 1:54,360,165 | C/A | — | pathogenic |
| rs35678003 | 1:54,360,171 | G/A | — | benign |
| rs759895018 | 1:54,370,389 | A/C | — | likely benign |
| rs769293758 | 1:54,371,792 | T/C | — | uncertain significance |
| rs201420507 | 1:54,371,889 | G/A | — | pathogenic |
| rs772813708 | 1:54,371,956 | A/G | — | uncertain significance |
| rs2235544 | 1:54,375,570 | C/A | regulatory region variant | drug response |
| rs766339963 | 1:54,375,643 | C/T | — | uncertain significance |
| rs11206244 | 1:54,375,701 | C/T | regulatory region variant | — |
| rs12095080 | 1:54,376,730 | A/G | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.