Entrez gene ID | | 1733 |
Official gene symbol | | DIO1 |
Full name | | deiodinase, iodothyronine, type I |
Aliases | | ,5DI,MGC130050,MGC130051,TXDI1, |
Gene summary | | 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] |
Location | | Chromosome: 1 Locus: 1p33-p32 |
Gene position | | 54359861 - 54376759 Map Viewer |
Gene orientation | | plus |
Gene size | | 16899 bp |
Gene sequence |
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OMIM ID | | 147892 |
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