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DIO3 iodothyronine deiodinase 3 [ Homo sapiens (human) ]

Gene ID: 1735, updated on 17-Jun-2019

Summary

Official Symbol
DIO3provided by HGNC
Official Full Name
iodothyronine deiodinase 3provided by HGNC
Primary source
HGNC:HGNC:2885
See related
Ensembl:ENSG00000197406 MIM:601038
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
D3; 5DIII; TXDI3; DIOIII
Summary
The protein encoded by this intronless gene belongs to the iodothyronine deiodinase family. It 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. This enzyme is highly expressed in pregnant uterus, placenta, fetal and neonatal tissues, and thought to prevent premature exposure of developing fetal tissues to adult levels of thyroid hormones. It regulates circulating fetal thyroid hormone concentrations, and thus plays a critical role in mammalian development. Knockout mice lacking this gene exhibit abnormalities related to development and reproduction, and increased activity of this enzyme in infants with hemangiomas causes severe hypothyroidism. 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, May 2016]
Orthologs

Genomic context

See DIO3 in Genome Data Viewer
Location:
14q32.31
Exon count:
1
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (101561351..101563452)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (102027688..102029789)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370674 Neighboring gene DIO3 opposite strand upstream RNA Neighboring gene microRNA 1247 Neighboring gene uncharacterized LOC105370675 Neighboring gene uncharacterized LOC107984698

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
thyroxine 5'-deiodinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thyroxine 5'-deiodinase activity NAS
Non-traceable Author Statement
more info
PubMed 
thyroxine 5'-deiodinase activity TAS
Traceable Author Statement
more info
 
thyroxine 5-deiodinase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
hormone biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of eye photoreceptor cell development IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
retinal cone cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
retinal cone cell development IEA
Inferred from Electronic Annotation
more info
 
thyroid hormone catabolic process IEA
Inferred from Electronic Annotation
more info
 
thyroid hormone generation TAS
Traceable Author Statement
more info
 
thyroid hormone metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
endosome membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
thyroxine 5-deiodinase
Names
deiodinase, iodothyronine type III
iodothyronine deiodinase, placental type
thyroxine deiodinase type III (selenoprotein)
type 3 DI
type 3 iodothyronine selenodeiodinase
type-III 5' deiodinase
NP_001353.4

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_001362.3NP_001353.4  thyroxine 5-deiodinase

    See identical proteins and their annotated locations for NP_001353.4

    Status: REVIEWED

    Source sequence(s)
    BC017717, BX161470
    Consensus CDS
    CCDS41992.2
    UniProtKB/Swiss-Prot
    P55073
    UniProtKB/TrEMBL
    Q86TU3
    Related
    ENSP00000427336.3, ENST00000510508.4
    Conserved Domains (1) summary
    pfam00837
    Location:39293
    T4_deiodinase; Iodothyronine deiodinase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    101561351..101563452
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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