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    DIO3 iodothyronine deiodinase 3 [ Homo sapiens (human) ]

    Gene ID: 1735, updated on 25-May-2017
    Official Symbol
    DIO3provided by HGNC
    Official Full Name
    iodothyronine deiodinase 3provided by HGNC
    Primary source
    HGNC:HGNC:2885
    See related
    Ensembl:ENSG00000197406 MIM:601038; Vega:OTTHUMG00000160681
    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
    Location:
    14q32.31
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 DIO3 opposite strand/antisense RNA (head to head) Neighboring gene microRNA 1247 Neighboring gene uncharacterized LOC105370675 Neighboring gene uncharacterized LOC107984698

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    biological_process ND
    No biological Data available
    more info
     
    hormone biosynthetic process 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 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
     
    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
     
    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

    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, OTTHUMP00000218716, ENST00000510508.4, OTTHUMT00000361712
      Conserved Domains (1) summary
      pfam00837
      Location:39293
      T4_deiodinase; Iodothyronine deiodinase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      101966169..101968270
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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