Dio1 deiodinase, iodothyronine, type I [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dio1provided by MGI
Official Full Name: deiodinase, iodothyronine, type Iprovided by MGI
Primary source: MGI:MGI:94896
See related: Ensembl:ENSMUSG00000034785 AllianceGenome:MGI:94896
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: D1; 5DI; ITDI1; TXDI1
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 is expressed predominantly in the liver and kidney and 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. [provided by RefSeq, Apr 2016]
Expression: Biased expression in liver adult (RPKM 54.1), kidney adult (RPKM 25.9) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 C7; 4 50.18 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (107148662..107164365, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (107291465..107307168, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Chronic Exposure to Chlorpyrifos Damages Thyroid Activity and Imbalances Hepatic Thyroid Hormones Signaling and Glucose Metabolism: Dependency of T3-FOXO1 Axis by Hyperglycemia.
Title: Chronic Exposure to Chlorpyrifos Damages Thyroid Activity and Imbalances Hepatic Thyroid Hormones Signaling and Glucose Metabolism: Dependency of T3-FOXO1 Axis by Hyperglycemia.
Early induction of hepatic deiodinase type 1 inhibits hepatosteatosis during NAFLD progression.
Title: Early induction of hepatic deiodinase type 1 inhibits hepatosteatosis during NAFLD progression.
Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism.
Title: Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism.
Reductions in Dio1 expression reduce the expression of ApoA-I in a 3,5,3'-triiodothyronine-/thyroid hormone response element-independent manner.
Title: Type 1 Deiodinase Regulates ApoA-I Gene Expression and ApoA-I Synthesis Independent of Thyroid Hormone Signaling.
Within the supportive environment of a research vivarium, mice lacking all three deiodinases can be bred and survive.
Title: Life without the iodothyronine deiodinases.
Systemic changes in thyroid hormone economy as a result of acute food deprivation are not dependent on the deiodinases D1 or D2 but are mediated in part by sequestration of type4 and type3 in tissues and their enhanced metabolism by deiodinase D3.
Title: The 5'-deiodinases are not essential for the fasting-induced decrease in circulating thyroid hormone levels in male mice: possible roles for the type 3 deiodinase and tissue sequestration of hormone.
Results demonstrate changes in D1 activity in white adipose tissue under conditions of changing adiposity, and a stimulatory effect of leptin on D1 activity in the tissue.
Title: Modulation of type I iodothyronine 5'-deiodinase activity in white adipose tissue by nutrition: possible involvement of leptin.
D1 playing an important role in iodide conservation by serving as a scavenger enzyme in peripheral tissues and the thyroid.
Title: Life without thyroxine to 3,5,3'-triiodothyronine conversion: studies in mice devoid of the 5'-deiodinases.
HNF4alpha regulates thyroid hormone homeostasis through transcriptional regulation of the Dio1 gene with GATA4 and KLF9
Title: Hepatocyte nuclear factor 4alpha contributes to thyroid hormone homeostasis by cooperatively regulating the type 1 iodothyronine deiodinase gene with GATA4 and Kruppel-like transcription factor 9.
findings show dramatic age and thyroid state-dependent changes in the expression of iodothyronine deiodinase D1, D2 and D3 in central and peripheral tissues of mice during the first 3 wk of life
Title: Regulation of iodothyronine deiodinases in the Pax8-/- mouse model of congenital hypothyroidism.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation
Endonuclease-mediated (3)

General gene information

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Markers

Dio1 (e-PCR), detects polymorphism
- UniSTS:142849

Dio1 (e-PCR), detects polymorphism
- UniSTS:142850

D17899 (e-PCR)
- UniSTS:124737

Dio1 (e-PCR), detects polymorphism
- UniSTS:516164

NoName (e-PCR)
- UniSTS:234986

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables selenium binding	IDA Inferred from Direct Assay more info	PubMed
enables thyroxine 5'-deiodinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables thyroxine 5'-deiodinase activity	IDA Inferred from Direct Assay more info	PubMed
enables thyroxine 5'-deiodinase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in amino acid metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hormone biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in thyroid hormone metabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: type I iodothyronine deiodinase

Names: DIOI; type 1 DI; type-I 5'-deiodinase

NP_031886.3

EC 1.21.99.4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.