Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DIO1 Gene

protein-coding   GIFtS: 59
GCID: GC01P054359

deiodinase, iodothyronine, type I


(Previous symbol: TXDI1)
 Explore 21 diseases affiliated with
DIO1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for DIO1    

Aliases
for DIO1 gene

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

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


Summaries
for DIO1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for DIO1:
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)

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




Genomic Views
for DIO1 gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences 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 plasmid: DIO1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DIO1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for DIO1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: IOD1_HUMAN, P49895 (See protein sequence)
Recommended Name: Type I iodothyronine deiodinase  
Size: 249 amino acids; 28924 Da
Subcellular location: Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P49895

    • 4 DME Specific Peptides for DIO1 (P49895)
     FGSCTUP  GNRPLVL  KFDQFKRL  QYFWFVLKVRWQRLED 

    DIO1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom Protein Services for DIO1 
    GenScript Custom Purified and Recombinant Proteins Services for DIO1
    Novus Biologicals DIO1 Proteins
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for DIO1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005792microsome ----
    GO:0005886plasma membrane TAS--
    GO:0016021integral to membrane IEA--


    DIO1 for ontologies           About GeneDecksing



    DIO1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for DIO1 
    GenScript Custom Superior Antibodies Services for DIO1
    Novus Biologicals DIO1 Antibodies
    Search for Antibodies for DIO1 at Abcam  
    Uscn Antibodies for DIO1
    Search ThermoFisher Antibodies for DIO1

    Assay Products for DIO1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DIO1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for DIO1

    Protein Domains /
    Families
    for DIO1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    DIO1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR000643 Iodothyronine_deiodinase
     IPR027252 Iodothyronine_deiodinase_I/III
     IPR008261 Iodothyronine_deiodinase_AS
     IPR012336 Thioredoxin-like_fold

    Graphical View of Domain Structure for InterPro Entry P49895

    ProtoNet protein and cluster: P49895

    1 Blocks protein family: IPB008261 Iodothyronine deiodinase

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


    Function
    for DIO1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
    Products:            		Browse 3'-UTR reporter clones for miRNA target validation
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DIO1
    8/13 QIAGEN miScript miRNA 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 plasmid: DIO1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DIO1 (see all 7)
    OriGene shRNA RFP: DIO1
    OriGene siRNA: DIO1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DIO1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for DIO1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DIO1 (see all 6)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DIO1 (see all 4)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 4): DIO1 (NM_001039715)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DIO1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIO1 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for DIO1
    Search LifeMap BioReagents cell lines for DIO1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIO1

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004800thyroxine 5'-deiodinase activity IEA--
    GO:0008430selenium binding IEA--


    DIO1 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Dio1tm1Vag for DIO1
         5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Dio1):
     digestive/alimentary  endocrine/exocrine gland  growth/size  homeostasis/metabolism  renal/urinary system 

    DIO1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for DIO1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Regulation of thyroid hormone activity
    		Regulation of thyroid hormone activity1.00
    		Amine-derived hormones0.21
    		Thyroxine biosynthesis0.50
    2Metabolism of amino acids and derivatives
    		Metabolism of amino acids and derivatives1.00
    3Metabolism
    		Metabolism1.00
    4Selenium Metabolism and Selenoproteins
    		Selenium Metabolism and Selenoproteins1.00
    5Selenium Pathway
    		Selenium Pathway1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 BioSystems Pathways for DIO1 
        Selenium Metabolism and Selenoproteins
    Selenium Pathway

    5        Reactome Pathways for DIO1
        Thyroxine biosynthesis
    Amine-derived hormones
    Metabolism
    Metabolism of amino acids and derivatives
    Regulation of thyroid hormone activity



    DIO1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins 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): 4 biological process terms (GO ID links to tree view):    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--


    DIO1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for DIO1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DIO1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DIO1

    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 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)

    Search CenterWatch for drugs/clinical trials and news about DIO1 / IOD1 

    Transcripts
    for DIO1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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

    miRNA
    Products:             		Browse 3'-UTR reporter clones for miRNA target validation
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DIO1
    8/13 QIAGEN miScript miRNA 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 plasmid: DIO1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DIO1 (see all 7)
    OriGene shRNA RFP: DIO1
    OriGene siRNA: DIO1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DIO1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DIO1 (see all 6)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DIO1 (see all 4)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 4): DIO1 (NM_001039715)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DIO1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIO1 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DIO1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DIO1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DIO1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DIO1

    Additional cDNA 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 

    24/47 AceView cDNA sequences (see all 47):

    AY560381 AY560380 AY560377 AY560379 AY560378 NM_213593 CB162504 AY560382 
    CB164090 AY560383 NM_000792 AY560376 CB162333 BE046205 AY560374 BC017955 
    AY560375 AA864867 CD014029 BG426442 N74025 BI461605 BI462826 H54860 

    GeneLoc Exon Structure


    Expression
    for DIO1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DIO1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTAACACATC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    DIO1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    PancreasIslets of LangerhansMature Beta CellsPancreas
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ progenitor EN2 (Embryonic Progenitor Cell)
    Posterior foregut-like cells (A scalable, suspensi...)

    See DIO1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DIO1

    SOURCE GeneReport for Unigene cluster: Hs.251415
        SABiosciences Custom PCR Arrays for DIO1
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DIO1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DIO1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DIO1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DIO1
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIO1

    Orthologs
    for DIO1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for DIO1 gene from 3/12 species (see all 12)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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 56.39(n)
    48.33(a)    		   799937  NM_001007283.1  NP_001007284.2 


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

    Paralogs
    for DIO1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for DIO1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/394 NCBI SNPs in DIO1 are shown (see all 394)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1122499991,2
    		C,--52474206(+) AGGTGC/AGAGGA 4 -- us2k11Minor allele frequency- A:0.50WA 2
    rs575746101,2
    		C--52474223(+) GAGCCC/-AGGAG 4 -- us2k11Minor allele frequency- -:0.00NA 2
    rs1115894181,2
    		--52474459(+) CACTTC/TAGCCA 4 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs729024251,2
    		C,--52474596(+) CTCTGG/TACTTC 4 -- us2k12Minor allele frequency- T:0.04WA 120
    rs1155918471,2
    		C,F,--52474675(+) AGAGGG/ATGTTT 4 -- us2k11Minor allele frequency- A:0.03WA 118
    rs773135131,2
    		C,F,--52474745(+) TGGTCC/TCATTT 4 -- us2k13Minor allele frequency- T:0.13NA 124
    rs754663781,2
    		C,F,--52475986(+) GTAGAG/AGGGGA 4 -- int11Minor allele frequency- A:0.06WA 118
    rs726623791,2
    		C,F,--52476868(+) CCAGGA/GAAACC 4 -- int11Minor allele frequency- G:0.04NA 120
    rs112062391,2
    		C,F,--52477639(+) GCCCAC/TGCTGG 4 -- int11Minor allele frequency- T:0.07WA 118
    rs726623801,2
    		C,--52478137(+) TAAAAA/TAATAG 4 -- int10--------

    HapMap Linkage Disequilibrium report for DIO1 (54356912 - 54376759 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for DIO1
         4 CNVs: 74486 48336 63767 84250
         3 Indels: 74487 84252 84251
    Human Gene Mutation Database (HGMD): DIO1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DIO1
    DNA2.0 Custom Variant and Variant Library Synthesis for DIO1

    Disorders / Diseases
    for DIO1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    DIO1 for disorders           About GeneDecksing

    OMIM gene information: 147892    OMIM disorders: --

    20/21 diseases for DIO1 (see all 21):    About MalaCards
    thyroiditis    mccune albright syndrome    euthyroid sick syndrome    familial partial lipodystrophy
    thyroid hormone metabolism    renal clear cell carcinoma    lipodystrophy    pituitary adenoma
    graves' disease    papillary carcinoma    hemangioma    hyperthyroidism
    hypothyroidism    lung cancer    pulmonary disease    adenoma
    twinning    thyroid cancer    breast cancer    carcinoma

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

    2 Novoseek 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

    Publications
    for DIO1 gene

    (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)
    About This Section

    PubMed articles for DIO1 gene, integrated from 9 sources (see all 79):
    (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. (1996)
    2. 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. (1992)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    4. A polymorphism in type I deiodinase is associated with circulating free insulin-like growth factor I levels and body composition in humans. (PubMed id 15483075)1, 4 Peeters R.P....Visser T.J. (2005)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. A novel retinoid X receptor-independent thyroid hormone response element is present in the human type 1 deiodinase gene. (PubMed id 7651427)1, 2 Toyoda N.... Larsen P.R. (1995)
    7. Disturbed Expression of Type 1 Iodothyronine Deiodinase Splice Variants in Human Renal Cancer. (PubMed id 19534619)1, 9 Piekielko-Witkowska A.... Nauman A. (2009)
    8. 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, 9 de Jong F.J....Breteler M.M. (2007)
    9. A Common variation in Deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triidothyronine. (PubMed id 18492748)1, 9 Panicker V....Frayling T.M. (2008)
    10. The role of thyroidal type-I iodothyronine deiodinase in tri-iodothyronine production by human and sheep thyrocytes in primary culture. (PubMed id 8473826)1, 9 Beech S.G....Beckett G.J. (1993)

    External Searches for DIO1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing DIO1 gene

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

    Other Databases showing DIO1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing DIO1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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

    Intellectual Property
    for DIO1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



    Products
    for DIO1 gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for DIO1  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DIO1   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DIO1  
     Browse OriGene Protein Over-expression Lysates   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for DIO1   Browse 3'-UTR reporter clones for miRNA target validation  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DIO1   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DIO1  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for DIO1   OriGene Custom Protein Services for DIO1  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DIO1
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DIO1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DIO1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DIO1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DIO1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DIO1
     GenScript Custom Purified and Recombinant Proteins Services for DIO1 GenScript cDNA clones with any tag delivered in your preferred vector for DIO1
     GenScript Custom Assay Services for DIO1 GenScript Custom Superior Antibodies Services for DIO1
     GenScript Custom overexpressing Cell Line Services for DIO1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in DIO1 promoter
     Search Chromatin IP Primers for DIO1
     RT2 qPCR Primer Assay in human, mouse, rat DIO1
     GNC Network for DIO1
     SABiosciences Custom PCR Arrays for DIO1
     Search Tocris compounds for DIO1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     DIO1 antibodies
     DIO1 proteins
     Search for Antibodies for DIO1 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for DIO1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     DIO1 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for DIO1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIO1
     SwitchGear 3'UTR luciferase reporter plasmids for DIO1
     SwitchGear Promoter luciferase reporter plasmids for DIO1
     Search ThermoFisher Antibodies for DIO1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIO1
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      DIO1 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4