DIO1 - iodothyronine deiodinase 1 Gene
Also Known as 5DI; THMA2; TXDI1
Species: Homo sapiens
About DIO1
This gene has 14 transcripts (splice variants), 219 orthologues, 2 paralogues and is associated with 1 phenotype. Biased expression in thyroid (RPKM 180.4), kidney (RPKM 58.4) and 1 other tissue.
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]
DIO1 Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_000792.7 | NP_000783.2 | type I iodothyronine deiodinase isoform a |
| NM_001039715.3 | NP_001034804.1 | type I iodothyronine deiodinase isoform c |
| NM_001039716.3 | NP_001034805.1 | type I iodothyronine deiodinase isoform d |
| NM_001324316.2 | NP_001311245.1 | type I iodothyronine deiodinase isoform e |
| NM_213593.5 | NP_998758.1 | type I iodothyronine deiodinase isoform b |
| Biological Process GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| involved in amino acid metabolic process |
IGI
IGI: Inferred from genetic interaction
|
26305885 | GOA |
DIO1 Protein Structure
T4_deiodinase: Iodothyronine deiodinase (8 - 248)
- 0
- 100
- 200
- 249 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
type I iodothyronine deiodinase |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
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| Euthyroid Sick Syndrome |
|
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| Congenital Hypothyroidism |
|
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| Hypothyroidism |
|
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | DIO1 | RGD | RGD:2504 |
| Felis catus | DIO1 | VGNC | VGNC:107521 |
| Mus musculus | DIO1 | MGD | MGI:94896 |
| Macaca mulatta | DIO1 | VGNC | VGNC:99892 |
| Others | DIO1 | NCBI |