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    DIO3 iodothyronine deiodinase 3 [ Homo sapiens (human) ]

    Gene ID: 1735, updated on 25-Jan-2022

    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; AllianceGenome:HGNC:2885
    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
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    Genomic context

    See DIO3 in Genome Data Viewer
    Location:
    14q32.31
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (101561351..101563452)
    105.20201022 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 Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables thyroxine 5'-deiodinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables thyroxine 5'-deiodinase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables thyroxine 5'-deiodinase activity TAS
    Traceable Author Statement
    more info
     
    enables thyroxine 5-deiodinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in brown fat cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hormone biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retinal cone cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retinal cone cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in thyroid hormone catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in thyroid hormone metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in thyroid hormone metabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in thyroid hormone metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in 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
    selenoprotein DIO3
    thyroxine deiodinase type III (selenoprotein)
    type 3 DI
    type 3 iodothyronine selenodeiodinase
    type-III 5' deiodinase
    NP_001353.4

    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.

    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 Updated Annotation Release 109.20211119

    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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