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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 (Iodothyronine Deiodinase 1) is a Protein Coding gene. Diseases associated with DIO1 include Euthyroid Sick Syndrome and Psammomatous Meningioma. Among its related pathways are Folate Metabolism and Thyroid hormone signaling pathway. Gene Ontology (GO) annotations related to this gene include selenium binding and thyroxine 5'-deiodinase activity. An important paralog of this gene is DIO2.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH01J053889 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 615.4 | -1.4 | -1438 | 2.4 | SP1 PRDM10 ZNF629 REST LEF1 KDM1A ZNF692 POLR2A RCOR2 LARP7 | DIO1 YIPF1 lnc-HSPB11-3 MAGOH SSBP3-AS1 ENSG00000279049 LRRC42 HSPB11 CYB5RL ENSG00000230953 | |
GH01J053892 | Promoter/Enhancer | 0.9 | FANTOM5 Ensembl ENCODE | 616 | +1.7 | 1675 | 1.5 | MNT SPI1 ZFP91 MAX | DIO1 YIPF1 ENSG00000230953 lnc-HSPB11-1 LRRC42 | |
GH01J053894 | Promoter | 0.9 | EPDnew | 600.7 | +2.9 | 2929 | 0.1 | REST RBFOX2 SP1 TAF1 RFX1 FOXA2 YY1 ZBTB17 JUND SAP130 | DIO1 lnc-HSPB11-1 LRRC42 | |
GH01J053895 | Promoter | 0.7 | Ensembl | 600.7 | +0.5 | 462 | 0.6 | USF1 NCOR1 ZFP91 HDAC2 VEZF1 MTA2 RAD51 TRIM24 SMARCA4 | YIPF1 DIO1 lnc-HSPB11-3 lnc-HSPB11-1 LRRC42 | |
GH01J053891 | Enhancer | 0.6 | ENCODE | 600.7 | 0.0 | -36 | 0.2 | SOX6 EP300 NCOR1 STAT5A TAL1 DPF2 HDAC2 VEZF1 TCF12 ZEB2 | DIO1 YIPF1 lnc-HSPB11-3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004800 | thyroxine 5'-deiodinase activity | IEA,IBA | 21873635 |
GO:0008430 | selenium binding | TAS | 1400883 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Amine-derived hormones | ||
2 | Thyroid hormone signaling pathway | ||
3 | Metabolism |
.40
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4 | Viral mRNA Translation | ||
5 | Folate Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006590 | thyroid hormone generation | TAS | -- |
GO:0042403 | thyroid hormone metabolic process | IBA | 21873635 |
GO:0042446 | hormone biosynthetic process | IEA | -- |
GO:0055114 | oxidation-reduction process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Iodide | Approved, Experimental | Pharma | 0 | |||
Levothyroxine | Approved | Pharma | 0 | |||
Selenium | Approved, Investigational, Vet_approved | Pharma | 227 | |||
Thyroid, porcine | Approved | Pharma | Enzyme, substrate | 0 | ||
Liothyronine | Approved, Vet_approved | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Hydrogen Ion |
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I(-) |
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Thyroxine sulfate |
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77074-49-8 |
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This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DIO1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DIO1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DIO1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Dio1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dio1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | DIO1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DIO1 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dio1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.17649 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | dio1 30 |
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708355 | Benign: not provided | 53,894,498(+) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv22788 | CNV | loss | 19812545 |
esv2664536 | CNV | deletion | 23128226 |
esv3586079 | CNV | loss | 21293372 |
esv3586080 | CNV | loss | 21293372 |
nsv1011262 | CNV | gain | 25217958 |
nsv516392 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
euthyroid sick syndrome |
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psammomatous meningioma |
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tibial adamantinoma |
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hypothyroidism |
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