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    DIO1 iodothyronine deiodinase 1 [ Homo sapiens (human) ]

    Gene ID: 1733, updated on 20-May-2017
    Official Symbol
    DIO1provided by HGNC
    Official Full Name
    iodothyronine deiodinase 1provided by HGNC
    Primary source
    HGNC:HGNC:2883
    See related
    Ensembl:ENSG00000211452 MIM:147892; Vega:OTTHUMG00000008435
    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
    5DI; 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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2016]
    Orthologs
    Location:
    1p32.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (53894187..53911086)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (54359860..54376763)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L37 pseudogene 7 Neighboring gene Yip1 domain family member 1 Neighboring gene heat shock protein family B (small) member 11 Neighboring gene leucine rich repeat containing 42 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 12

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
    NHGRI GWA Catalog
    The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.
    NHGRI GWA Catalog
    • Amine-derived hormones, organism-specific biosystem (from REACTOME)
      Amine-derived hormones, organism-specific biosystemCatecholamines and thyroxine are synthesized from tyrosine, and serotonin and melatonin from tryptophan.
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
      Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
    • Regulation of thyroid hormone activity, organism-specific biosystem (from REACTOME)
      Regulation of thyroid hormone activity, organism-specific biosystemThe iodothyronine deiodinases (DIO) are dimeric, membrane-bound enzymes that regulate the activity of thyroid hormone by removal of specific iodines from the precursor T4. There are three types of DI...
    • Selenium Metabolism and Selenoproteins, organism-specific biosystem (from WikiPathways)
      Selenium Metabolism and Selenoproteins, organism-specific biosystem* Comments belonging to specific genes on the Selenoprotein pathway ** TRXND3 gene: Although the geneID is correct, the sequence of this gene was guessed by analogy. ** Cystathionine gamma-lyase is t...
    • Selenium Micronutrient Network, organism-specific biosystem (from WikiPathways)
      Selenium Micronutrient Network, organism-specific biosystem
      Selenium Micronutrient Network
    • Thyroid hormone signaling pathway, organism-specific biosystem (from KEGG)
      Thyroid hormone signaling pathway, organism-specific biosystemThe thyroid hormones (THs) are important regulators of growth, development and metabolism. The action of TH is mainly mediated by T3 (3,5,3'-triiodo-L-thyronine). Thyroid hormones, L-thyroxine (T4) a...
    • Thyroxine biosynthesis, organism-specific biosystem (from REACTOME)
      Thyroxine biosynthesis, organism-specific biosystemThyroxine (3,5,3',5'-tetraiodothyronine, T4) promotes normal growth and development. It also regulates heat and energy production. T4 is released from the thyroid gland, the largest endocrine organ i...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC130050, MGC130051

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    selenium binding TAS
    Traceable Author Statement
    more info
    PubMed 
    thyroxine 5'-deiodinase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    hormone biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    thyroid hormone generation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum 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
    type I iodothyronine deiodinase
    Names
    DIOI
    deiodinase, iodothyronine type I
    iodothyronine deiodinase type 1
    thyroxine 5'-deiodinase
    thyroxine deiodinase type I (selenoprotein)
    type 1 DI
    type-I 5'-deiodinase
    NP_000783.2
    NP_001034804.1
    NP_001034805.1
    NP_001311245.1
    NP_998758.1

    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.

    Genomic

    1. NG_023306.1 RefSeqGene

      Range
      5000..21899
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000792.6NP_000783.2  type I iodothyronine deiodinase isoform a

      See identical proteins and their annotated locations for NP_000783.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AK290780, BC017955, BE046205
      Consensus CDS
      CCDS41339.1
      UniProtKB/Swiss-Prot
      P49895
      UniProtKB/TrEMBL
      A8K415
      Related
      ENSP00000354643.3, OTTHUMP00000010105, ENST00000361921.7, OTTHUMT00000023247
      Conserved Domains (1) summary
      cl00388
      Location:8248
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
    2. NM_001039715.2NP_001034804.1  type I iodothyronine deiodinase isoform c

      See identical proteins and their annotated locations for NP_001034804.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the coding region compared to variant 1. The resulting isoform (c) is shorter, lacking an internal selenocysteine-containing protein segment compared to isoform a.
      Source sequence(s)
      AK290780, AY560377, BC017955, BE046205
      Consensus CDS
      CCDS30722.1
      UniProtKB/Swiss-Prot
      P49895
      UniProtKB/TrEMBL
      A8K415
      Related
      ENSP00000373528.3, OTTHUMP00000232066, ENST00000388876.3, OTTHUMT00000388179
      Conserved Domains (1) summary
      cl00388
      Location:8200
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
    3. NM_001039716.2NP_001034805.1  type I iodothyronine deiodinase isoform d

      See identical proteins and their annotated locations for NP_001034805.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an exon in the 3' coding region, which causes a frameshift compared to variant 1. The resulting isoform (d) is shorter, with a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AK290780, BC017955, BE046205
      Consensus CDS
      CCDS41340.1
      UniProtKB/Swiss-Prot
      P49895
      UniProtKB/TrEMBL
      A8K415
      Related
      ENSP00000323198.6, OTTHUMP00000010106, ENST00000322679.10, OTTHUMT00000023248
      Conserved Domains (1) summary
      cl00388
      Location:8160
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
    4. NM_001324316.1NP_001311245.1  type I iodothyronine deiodinase isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two internal exons, which causes a frameshift compared to variant 1. The resulting shorter isoform (e) has the same N-terminus but a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AK290780, AY560381, BC017955, BE046205
      Consensus CDS
      CCDS81328.1
      UniProtKB/Swiss-Prot
      P49895
      UniProtKB/TrEMBL
      A8K415
      Related
      ENSP00000434758.1, OTTHUMP00000232062, ENST00000532493.5, OTTHUMT00000388175
      Conserved Domains (1) summary
      cl00388
      Location:8113
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
    5. NM_213593.4NP_998758.1  type I iodothyronine deiodinase isoform b

      See identical proteins and their annotated locations for NP_998758.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame donor splice site at the 5' terminal exon compared to variant 1. The resulting isoform (b) is shorter, lacking a 64 aa protein segment in the 5' coding region compared to isoform a.
      Source sequence(s)
      AK290780, AY560375, BC017955, BE046205
      Consensus CDS
      CCDS53320.1
      UniProtKB/Swiss-Prot
      P49895
      UniProtKB/TrEMBL
      A8K415
      Related
      ENSP00000435725.1, OTTHUMP00000232063, ENST00000525202.5, OTTHUMT00000388176
      Conserved Domains (1) summary
      cl00388
      Location:8184
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

    RNA

    1. NR_136692.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate donor splice site at the 5' terminal exon compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK290780, AY560379, BC017955, BE046205
    2. NR_136693.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) is alternatively spliced at the 5' end compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK290780, AY560382, BC017955, BE046205

    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_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      53894187..53911086
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      54476232..54493132
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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