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DIO1 Gene

protein-coding   GIFtS: 59
GCID: GC01P054359

Deiodinase, Iodothyronine, Type I


(Previous symbol: TXDI1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Deiodinase, Iodothyronine, Type I1 2     EC 1.97.1.103 8
TXDI11 2 3 5     Iodothyronine Deiodinase Type 12
Type 1 DI2 3     Thyroxine Deiodinase Type I (Selenoprotein)2
Type-I 5'-Deiodinase2 3     Type I Iodothyronine Deiodinase2
5DI2 3     ITDI13
DIOI2 3     EC 1.97.18

External Ids:    HGNC: 28831   Entrez Gene: 17332   Ensembl: ENSG000002114527   OMIM: 1478925   UniProtKB: P498953   

Export aliases for DIO1 gene to outside databases

Previous GC identifers: GC01P054189 GC01P053248 GC01P053717 GC01P053729 GC01P054071 GC01P054132 GC01P052475


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DIO1 Gene:
The protein encoded by this gene is a thiol-requiring propylthiouracil-sensitive oxidoreductase. It activates
thyroid hormone by converting the prohormone thyroxine (T4) by outer ring deiodination (ORD) to bioactive
3,3',5-triiodothyronine (T3). It also degrades both hormones by inner ring deiodination (IRD). Alternative
splicing results in multiple transcript variants encoding different isoforms. Some, but not all, isoforms contain
a selenocysteine (Sec) residue encoded by the UGA codon, which normally signals translation termination. The 3'
UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is
necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Additional transcript variants
have been described but are not supported by experimental evidence. (provided by RefSeq, Jul 2008)

GeneCards Summary for DIO1 Gene:
DIO1 (deiodinase, iodothyronine, type I) is a protein-coding gene. Diseases associated with DIO1 include keshan disease, and familial partial lipodystrophy. GO annotations related to this gene include thyroxine 5'-deiodinase activity and selenium binding.

UniProtKB/Swiss-Prot: IOD1_HUMAN, P49895
Function: Responsible for the deiodination of T4 (3,5,3',5'-tetraiodothyronine) into T3 (3,5,3'-triiodothyronine)
and of T3 into T2 (3,3'-diiodothyronine). Plays a role in providing a source of plasma T3 by deiodination of T4
in peripheral tissues such as liver and kidney




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the DIO1 gene promoter:
         HEN1   AML1a   Pax-5   Sp1   STAT3   Hand1   E4BP4   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDIO1 promoter sequence
   Search Chromatin IP Primers for DIO1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DIO1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p33-p32   Ensembl cytogenetic band:  1p32.3   HGNC cytogenetic band: 1p33-p32

DIO1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DIO1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P054359:  view genomic region     (about GC identifiers)

Start:
54,356,912 bp from pter      End:
54,376,759 bp from pter
Size:
19,848 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: IOD1_HUMAN, P49895 (See protein sequence)
Recommended Name: Type I iodothyronine deiodinase  
Size: 249 amino acids; 28924 Da
Secondary accessions: Q1RN02 Q3KNP8 Q6Q4C1 Q6Q4C2 Q6Q4C3 Q6Q4C4 Q6Q4C5 Q6Q4C6 Q6Q4C7 Q6Q4C9
Q8WWC6
Alternative splicing: 9 isoforms:  P49895-1   P49895-2   P49895-3   P49895-4   P49895-5   P49895-6   P49895-7   P49895-8   
P49895-9   (No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. The UGA codon in position 59 may either function as a selenocysteine codon or a translation termination codon)

Explore the universe of human proteins at neXtProt for DIO1: NX_P49895

Explore proteomics data for DIO1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for DIO1 (P49895)
     FGSCTUP  GNRPLVL  KFDQFKRL  QYFWFVLKVRWQRLED 


    See DIO1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_000783.2  NP_001034804.1  NP_001034805.1  NP_998758.1  

    ENSEMBL proteins: 
     ENSP00000432797   ENSP00000354643   ENSP00000323198   ENSP00000431999   ENSP00000433891  
     ENSP00000436550   ENSP00000435030   ENSP00000434758   ENSP00000435725   ENSP00000432700  
     ENSP00000434152   ENSP00000373528  
    Reactome Protein details: P49895

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    Cloud-Clone Corp. CLIAs for DIO1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR000643 Iodothyronine_deiodinase
     IPR008261 Iodothyronine_deiodinase_AS
     IPR012336 Thioredoxin-like_fold
     IPR027252 Iodothyronine_deiodinase_I/III

    Graphical View of Domain Structure for InterPro Entry P49895

    ProtoNet protein and cluster: P49895

    1 Blocks protein domain: IPB008261 Iodothyronine deiodinase

    UniProtKB/Swiss-Prot: IOD1_HUMAN, P49895
    Similarity: Belongs to the iodothyronine deiodinase family


    DIO1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IOD1_HUMAN, P49895
    Function: Responsible for the deiodination of T4 (3,5,3',5'-tetraiodothyronine) into T3 (3,5,3'-triiodothyronine)
    and of T3 into T2 (3,3'-diiodothyronine). Plays a role in providing a source of plasma T3 by deiodination of T4
    in peripheral tissues such as liver and kidney
    Catalytic activity: 3,5,3'-triiodo-L-thyronine + iodide + A + H(+) = L-thyroxine + AH(2)

         Genatlas biochemistry entry for DIO1:
    iodothyronine 5'-deiodinase type I,28.7kDa,selenocysteine containing,involved in inappropriate thyroid-stimulating
    hormone secretion

         Enzyme Numbers (IUBMB): EC 1.97.1.101 2 EC 1.97.12

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004800thyroxine 5'-deiodinase activity IEA--
    GO:0008430selenium binding IEA--
         
    DIO1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DIO1:
     Decreased nuclei size in G2M 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Dio1):
     digestive/alimentary  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  renal/urinary system 

    DIO1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dio1tm1Vag for DIO1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DIO1
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    miRNA
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    miRTarBase miRNAs that target DIO1:
    hsa-mir-335-5p (MIRT017647)

    Block miRNA regulation of human, mouse, rat DIO1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DIO1 (see all 13):
    hsa-miR-4303 hsa-miR-224 hsa-miR-3200-5p hsa-miR-610 hsa-miR-3688-3p hsa-miR-7-2* hsa-miR-759 hsa-miR-877*
    SwitchGear 3'UTR luciferase reporter plasmidDIO1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for DIO1
    Predesigned siRNA for gene silencing in human, mouse, rat DIO1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 4): DIO1 (NM_001039715)
    Sino Biological Human cDNA Clone for DIO1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DIO1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIO1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for DIO1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIO1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IOD1_HUMAN, P49895: Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane4
    extracellular2
    cytosol1
    golgi apparatus1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane IEA--

    DIO1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DIO1 About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    Amine-derived hormones0.00
    Regulation of thyroid hormone activity0.00
    Thyroxine biosynthesis0.00
    2Metabolism
    Metabolism0.38
    3Thyroid hormone signaling pathway
    Thyroid hormone signaling pathway
    4Selenium Pathway
    Selenium Pathway
    5Selenium Metabolism and Selenoproteins
    Selenium Metabolism and Selenoproteins

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for DIO1
        Selenium Metabolism and Selenoproteins
    Selenium Pathway


    1 Reactome Pathway for DIO1
        Regulation of thyroid hormone activity


    1 Kegg Pathway  (Kegg details for DIO1):
        Thyroid hormone signaling pathway


    DIO1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DIO1
    Interactions:

        GeneGlobe Interaction Network for DIO1

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5 Interacting proteins for DIO1 (ENSP000003546434) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HNRNPKENSP000003654394STRING: ENSP00000365439
    DVL3ENSP000003160544STRING: ENSP00000316054
    WWP2ENSP000003482834STRING: ENSP00000348283
    WWP1ENSP000002654284STRING: ENSP00000265428
    SRSF1ENSP000002589624STRING: ENSP00000258962
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006590thyroid hormone generation TAS--
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0042446hormone biosynthetic process IEA--
    GO:0044281small molecule metabolic process TAS--
    GO:0055114oxidation-reduction process ----

    DIO1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DIO1 (IOD1)

    6 HMDB Compounds for DIO1    About this table
    CompoundSynonyms CAS #PubMed Ids
    IodideIodide (see all 10)20461-54-5--
    Liothyronine3,3',5-Triiodo-L-thyronine (see all 20)6893-02-3--
    Seleniumselenium (see all 5)7782-49-2--
    Selenocysteine(2R)-2-amino-3-selanylpropanoate (see all 8)3614-08-2--
    Thyroxine(-)-Thyroxine (see all 33)51-48-9--
    Thyroxine sulfateThyroxine sulfate (see all 8)77074-49-8--

    8 Novoseek inferred chemical compound relationships for DIO1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    selenocysteine 78.4 4 1396330 (2), 1284327 (1)
    triiodothyronine 64.1 10 8473826 (1), 19534619 (1), 8884066 (1), 14635503 (1) (see all 5)
    thyroxine 62.7 6 19534619 (1), 14635503 (1), 8033262 (1), 1599938 (1)
    selenite 53.8 2 8427211 (1), 1284327 (1)
    selenium 50.5 4 7741235 (2), 1284327 (1)
    iodine 38.6 1 18339710 (1)
    iodide 36.2 2 9449630 (1), 16026305 (1)
    cysteine 0 3 1396330 (2)



    DIO1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DIO1 gene (4 alternative transcripts): 
    NM_000792.5  NM_001039715.1  NM_001039716.1  NM_213593.3  

    Unigene Cluster for DIO1:

    Deiodinase, iodothyronine, type I
    Hs.251415  [show with all ESTs]
    Unigene Representative Sequence: NM_000792
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000534069 ENST00000529589 ENST00000361921(uc021onp.1 uc009vzl.3 uc021onq.1 uc001cwb.3 uc021onr.1 uc001cwd.3 uc001cwe.3 uc001cwf.3 uc001cwg.3)
    ENST00000322679 ENST00000530084 ENST00000528946 ENST00000525044 ENST00000527060
    ENST00000526329 ENST00000532493 ENST00000525202 ENST00000529329 ENST00000524406
    ENST00000388876
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    hsa-miR-4303 hsa-miR-224 hsa-miR-3200-5p hsa-miR-610 hsa-miR-3688-3p hsa-miR-7-2* hsa-miR-759 hsa-miR-877*
    SwitchGear 3'UTR luciferase reporter plasmidDIO1 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat DIO1
      QuantiFast Probe-based Assays in human, mouse, rat DIO1

    Additional mRNA sequence: 

    AK290780.1 AY560374.1 AY560375.1 AY560376.1 AY560377.1 AY560378.1 AY560381.1 BC017955.1 
    BC107170.2 BC107171.2 FJ002243.1 FJ002244.1 FJ002245.1 FJ002246.1 FJ002247.1 FJ002248.1 
    FJ002249.1 

    5 DOTS entries:

    DT.101980754  DT.312478  DT.121402546  DT.95362414  DT.102824673 

    Selected AceView cDNA sequences (see all 47):

    BC017955 AY560376 CB162504 AY560377 AY560380 AY560378 AY560375 CB164090 
    NM_213593 AY560381 AY560383 AY560379 BE046205 AY560382 CB162333 NM_000792 
    AY560374 CD014029 CD014031 BG426442 N74025 CB163318 BI462826 AA864867 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DIO1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTAACACATC
    DIO1 Expression
    About this image


    DIO1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Liver (Hepatobiliary System)
             Hepatocyte-like cells
     
     Neural Ectoderm (Nervous System)
             Neural ectoderm cells
     
     Neural Tube (Nervous System)
             Floor plate-like cells
     
     Thyroid (Endocrine System)
     
     Kidney (Urinary System)
    DIO1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DIO1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.251415
        Custom PCR Arrays for DIO1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIO1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for DIO1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dio11 , 5 deiodinase, iodothyronine, type I1, 5 82.86(n)1
    79.12(a)1
      4 (50.18 cM)5
    133701  NM_007860.31  NP_031886.31 
     1072914655 
    chicken
    (Gallus gallus)
    Aves DIO11 deiodinase, iodothyronine, type I 66.25(n)
    63.45(a)
      395940  NM_001097614.1  NP_001091083.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.176492 Xenopus laevis transcribed sequence with weak similarity more 74.59(n)    BX844453.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dio11 deiodinase, iodothyronine, type I 57.8(n)
    50.46(a)
      799937  NM_001007283.1  NP_001007284.2 


    ENSEMBL Gene Tree for DIO1 (if available)
    TreeFam Gene Tree for DIO1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DIO1 gene
    2 SIMAP similar genes for DIO1 using alignment to 7 protein entries:     IOD1_HUMAN (see all proteins):
    DIO3    DIO2

    DIO1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DIO1 (see all 483)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs575746101,2
    C--52474223(+) GAGCCC/-AGGAG 4 -- us2k11Minor allele frequency- -:0.00NA 2
    rs120766151,2
    C,F--52474310(+) TATTTT/AAAAAA 4 -- us2k12Minor allele frequency- A:0.50NA 4
    rs802525251,2
    F--52474311(+) ATTTAT/AAAAAA 4 -- us2k12Minor allele frequency- A:0.50NA 4
    rs604696901,2
    C--54364418(+) AAAAAA/-GAGAC 4 -- int11Minor allele frequency- -:0.00NA 2
    rs610819981,2
    C--54364418(+) GTCTC-/AAAAAA
            
    AAAAA
    4 -- int10--------
    rs112917491,2
    C,F--54367572(+) CTCTCA/-AAAAA 4 -- int14Minor allele frequency- -:0.38NA CSA 8
    rs32155001,2
    C--54370235(+) GGGGG-/GAAATA 4 -- int10--------
    rs67011851,2
    C,F,A,H--54437225(+) cggtgG/Tctcac 4 -- us2k14Minor allele frequency- T:0.33NA CSA 9
    rs107889691,2
    C,F,A,H--54437230(+) TCTCAT/CGCCTG 4 -- us2k15Minor allele frequency- C:0.36NA CSA 11
    rs107889701,2
    C,F,A,H--54437314(+) ATGGCA/GAAACC 4 -- us2k14Minor allele frequency- G:0.40NA 10

    HapMap Linkage Disequilibrium report for DIO1 (54356912 - 54376759 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for DIO1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2664536CNV Deletion23128226
    esv22788CNV Loss19812545
    nsv516392CNV Loss19592680

    Human Gene Mutation Database (HGMD): DIO1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DIO1
    DNA2.0 Custom Variant and Variant Library Synthesis for DIO1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 147892    OMIM disorders: --

    Selected diseases for DIO1 (see all 23):    
    About MalaCards
    keshan disease    familial partial lipodystrophy    mccune albright syndrome    euthyroid sick syndrome
    lipodystrophy    renal clear cell carcinoma    hyperthyroidism    goiter
    thyroiditis    papillary carcinoma    hemangioma    thyroid cancer
    hypothyroidism    lung cancer susceptibility    pituitary adenoma    graves' disease
    papillary thyroid carcinoma    adenoma    hypoxia    lung cancer

    3 diseases from the University of Copenhagen DISEASES database for DIO1:
    Hypothyroidism     Euthyroid sick syndrome     Keshan disease

    DIO1 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for DIO1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    selenium deficiency 66.8 1 7741235 (1)
    metastasis 0 1 14635503 (1)

    Genetic Association Database (GAD): DIO1
    Human Genome Epidemiology (HuGE) Navigator: DIO1 (19 documents)

    Export disorders for DIO1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DIO1 gene, integrated from 10 sources (see all 82):
    (articles sorted by number of sources associating them with DIO1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The structure of the coding and 5'-flanking region of the type 1 iodothyronine deiodinase (dio1) gene is normal in a patient with suspected congenital dio1 deficiency. (PubMed id 8964838)1, 3, 9 Toyoda N....Larsen P.R. (J. Clin. Endocrinol. Metab. 1996)
    2. The association of polymorphisms in the type 1 and 2 deiodinase genes with circulating thyroid hormone parameters and atrophy of the medial temporal lobe. (PubMed id 17105838)1, 4, 9 de Jong F.J....Breteler M.M. (J. Clin. Endocrinol. Metab. 2007)
    3. A common variation in deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triiodothyronine. (PubMed id 18492748)1, 4, 9 Panicker V....Frayling T.M. (J. Clin. Endocrinol. Metab. 2008)
    4. Cloning and in vitro expression of the human selenoprotein, type I iodothyronine deiodinase. (PubMed id 1400883)1, 2, 9 Mandel S.J....Larsen P.R. (J. Clin. Endocrinol. Metab. 1992)
    5. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    6. The effect of genetic variation in the type 1 deiodinase gene on the interindividual variation in serum thyroid hormone levels: an investigation in healthy Danish twins. (PubMed id 18793344)1, 4 van der Deure W.M....Visser T.J. (Clin. Endocrinol. (Oxf) 2009)
    7. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (Respir Med 2009)
    8. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PubMed id 19170196)1, 4 Shen M....Lan Q. (Environ. Mol. Mutagen. 2009)
    9. Common variation in the DIO2 gene predicts baseline psychological well-being and response to combination thyroxine plus triiodothyronine therapy in hypothyroid patients. (PubMed id 19190113)1, 4 Panicker V....Dayan C.M. (J. Clin. Endocrinol. Metab. 2009)
    10. The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors. (PubMed id 19730683)1, 4 Landa I....Robledo M. (PLoS Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1733 HGNC: 2883 AceView: DIO1 Ensembl:ENSG00000211452 euGenes: HUgn1733
    ECgene: DIO1 Kegg: 1733 H-InvDB: DIO1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DIO1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DIO1 Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Deiodinase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DIO1 gene:
    Search GeneIP for patents involving DIO1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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