DIO1 Back

deiodinase, iodothyronine, type I

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of DIO1
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.

Community Annotation of DIO1 Add / Edit DIO1: Annotations

No community annotations yet for DIO1.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

DIO1 is highly significantly mutated in
(none)
DIO1 is significantly mutated in
(none)
DIO1 is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for DIO1