Dio3 deiodinase, iodothyronine type III [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dio3provided by MGI
Official Full Name: deiodinase, iodothyronine type IIIprovided by MGI
Primary source: MGI:MGI:1306782
See related: Ensembl:ENSMUSG00000075707 AllianceGenome:MGI:1306782
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
Summary: This is an intronless, imprinted gene that is preferentially expressed from the paternal allele in the mouse fetus. The encoded protein belongs to the iodothyronine deiodinase family, and catalyzes the inactivation of thyroid hormone by inner ring deiodination of the prohormone thyroxine (T4) and the bioactive hormone 3,3',5-triiodothyronine (T3) to inactive metabolites, 3,3',5' triiodothyronine (RT3) and 3,3'-diiodothyronine (T2), respectively. It is highly expressed in placenta, fetal and neonatal tissues, and thought to prevent premature exposure of developing fetal tissues to adult levels of thyroid hormones. It thus plays a critical role in mammalian development by regulating circulating fetal thyroid hormone concentration. Knockout mice lacking this gene exhibit severe abnormalities related to development and reproduction. This protein is a selenoprotein, containing the rare selenocysteine (Sec) amino acid 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, Jun 2016]
Orthologs: human all
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Genomic context

Location:: 12 60.56 cM; 12 F1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (110245664..110247531)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (110279230..110281097)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Maternal RNA transcription in Dlk1-Dio3 domain is critical for proper development of the mouse placental vasculature.
Title: Maternal RNA transcription in Dlk1-Dio3 domain is critical for proper development of the mouse placental vasculature.
Mice lacking DIO3 exhibit sex-specific alterations in circadian patterns of corticosterone and gene expression in metabolic tissues.
Title: Mice lacking DIO3 exhibit sex-specific alterations in circadian patterns of corticosterone and gene expression in metabolic tissues.
Effect of epigenetic activating of Dlk1-Dio3 imprinted cluster on miR-370 expression due to folate deficiency during nerve development.
Title: Effect of epigenetic activating of Dlk1-Dio3 imprinted cluster on miR-370 expression due to folate deficiency during nerve development.
Developmental thyroid hormone action on pro-opiomelanocortin-expressing cells programs hypothalamic BMPR1A depletion and brown fat activation.
Title: Developmental thyroid hormone action on pro-opiomelanocortin-expressing cells programs hypothalamic BMPR1A depletion and brown fat activation.
DIO3 protects against thyrotoxicosis-derived cranio-encephalic and cardiac congenital abnormalities.
Title: DIO3 protects against thyrotoxicosis-derived cranio-encephalic and cardiac congenital abnormalities.
Dlk1-Dio3 cluster miRNAs regulate mitochondrial functions in the dystrophic muscle in Duchenne muscular dystrophy.
Title: Dlk1-Dio3 cluster miRNAs regulate mitochondrial functions in the dystrophic muscle in Duchenne muscular dystrophy.
Humanization of a tandem repeat in IG-DMR causes stochastic restoration of paternal imprinting at mouse Dlk1-Dio3 domain.
Title: Humanization of a tandem repeat in IG-DMR causes stochastic restoration of paternal imprinting at mouse Dlk1-Dio3 domain.
Spermatogonial Dio3 as a potential germ line sensor for thyroid hormone-driven epigenetic inheritance dagger.
Title: Spermatogonial Dio3 as a potential germ line sensor for thyroid hormone-driven epigenetic inheritance †.
The Thyroid Hormone Inactivator Enzyme, Type 3 Deiodinase, Is Essential for Coordination of Keratinocyte Growth and Differentiation.
Title: The Thyroid Hormone Inactivator Enzyme, Type 3 Deiodinase, Is Essential for Coordination of Keratinocyte Growth and Differentiation.
The extent of the molecular and behavioral phenotypes of adult-onset DIO3 deficiency suggests that a substantial proportion of the neurological abnormalities caused by constitutive DIO3 deficiency has a developmental origin. However, DIO3 in the adult brain also influences behavior and sensitivity to thyroid hormone action in a sexually dimorphic fashion.
Title: Adult onset of type 3 deiodinase deficiency in mice alters brain gene expression and increases locomotor activity.

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Variation

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Alleles

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

Targeted (2) 1 citation
Endonuclease-mediated (2)

General gene information

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Markers

Dio3 (e-PCR), detects polymorphism
- UniSTS:534554

UniSTS:489530 (e-PCR)
- UniSTS:489530

NoName (e-PCR)
- UniSTS:236948

RH128338 (e-PCR)
- UniSTS:211646

NoName (e-PCR)
- UniSTS:532166

Dio3 (e-PCR), detects polymorphism
- UniSTS:532166

Dio3os (e-PCR), detects polymorphism
- UniSTS:516591

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables thyroxine 5'-deiodinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables thyroxine 5'-deiodinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
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
acts_upstream_of_or_within apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hormone biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retinal cone cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of retinal cone cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retinal cone cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within thyroid hormone catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in thyroid hormone catabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within thyroid hormone catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in thyroid hormone metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in thyroid hormone metabolic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: thyroxine 5-deiodinase

Names: 5DIII; DIOIII; type 3 DI; type III iodothyronine deiodinase; type-III 5'-deiodinase

NP_742117.2

EC 1.21.99.3

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.