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    DIO1 iodothyronine deiodinase 1 [ Homo sapiens (human) ]

    Gene ID: 1733, updated on 23-Nov-2021

    Summary

    Official Symbol
    DIO1provided by HGNC
    Official Full Name
    iodothyronine deiodinase 1provided by HGNC
    Primary source
    HGNC:HGNC:2883
    See related
    Ensembl:ENSG00000211452 MIM:147892
    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 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, Jun 2018]
    Expression
    Biased expression in thyroid (RPKM 180.4), kidney (RPKM 58.4) and 1 other tissue See more
    Orthologs
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    Genomic context

    See DIO1 in Genome Data Viewer
    Location:
    1p32.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (53894187..53911086)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (54359860..54376759)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Yip1 domain family member 1 Neighboring gene Sharpr-MPRA regulatory region 6831 Neighboring gene Sharpr-MPRA regulatory region 3939 Neighboring gene heat shock protein family B (small) member 11 Neighboring gene Sharpr-MPRA regulatory region 3629 Neighboring gene leucine rich repeat containing 42

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
    GeneReviews: Not available
    The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC130050, MGC130051

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables selenium binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables thyroxine 5'-deiodinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular amino acid metabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in hormone biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in thyroid hormone generation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in thyroid hormone metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    type I iodothyronine deiodinase
    Names
    DIOI
    deiodinase, iodothyronine type I
    iodothyronine deiodinase type 1
    selenoprotein DIO1
    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000792.7NP_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
      ENSP00000354643.4, ENST00000361921.8
      Conserved Domains (1) summary
      cl00388
      Location:8248
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
    2. NM_001039715.3NP_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, ENST00000388876.3
      Conserved Domains (1) summary
      cl00388
      Location:8200
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
    3. NM_001039716.3NP_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, ENST00000322679.10
      Conserved Domains (1) summary
      cl00388
      Location:8160
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
    4. NM_001324316.2NP_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, ENST00000532493.5
      Conserved Domains (1) summary
      cl00388
      Location:8113
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
    5. NM_213593.5NP_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, ENST00000525202.5
      Conserved Domains (1) summary
      cl00388
      Location:8184
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

    RNA

    1. NR_136692.2 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_136693.2 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 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_000001.11 Reference GRCh38.p13 Primary Assembly

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