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DIO1 Gene(Protein Coding)

Iodothyronine Deiodinase 1

GCID:
GC01P053891
GIFtS:
48
Genes Participants
UDN Logo

Aliases for DIO1 Gene

Aliases for DIO1 Gene

  • Iodothyronine Deiodinase 1 2 3 5
  • Deiodinase, Iodothyronine Type I 2 3
  • Type I Iodothyronine Deiodinase 2 3
  • Thyroxine 5-Deiodinase 2 3
  • Type-I 5-Deiodinase 3 4
  • Type 1 DI 3 4
  • TXDI1 3 4
  • DIOI 3 4
  • 5DI 3 4
  • Thyroxine Deiodinase Type I (Selenoprotein) 3
  • Iodothyronine Deiodinase Type 1 3
  • EC 1.97.1.10 56
  • EC 1.21.99.4 4
  • EC 1.97.1 56
  • ITDI1 4

External Ids for DIO1 Gene

Previous HGNC Symbols for DIO1 Gene

  • TXDI1

Previous GeneCards Identifiers for DIO1 Gene

  • GC01P054189
  • GC01P053248
  • GC01P053717
  • GC01P053729
  • GC01P054071
  • GC01P054132
  • GC01P054359
  • GC01P052475

Summaries for DIO1 Gene

Entrez Gene Summary for DIO1 Gene

  • 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]

GeneCards Summary for DIO1 Gene

DIO1 (Iodothyronine Deiodinase 1) is a Protein Coding gene. Among its related pathways are Amine-derived hormones and Thyroid hormone signaling pathway. Gene Ontology (GO) annotations related to this gene include selenium binding and thyroxine 5-deiodinase activity. An important paralog of this gene is DIO3.

UniProtKB/Swiss-Prot for DIO1 Gene

  • 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.

Additional gene information for DIO1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DIO1 Gene

Genomics for DIO1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for DIO1 Gene

Promoters and enhancers for DIO1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01I053889 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 565.5 -1.2 -1245 2 HDGF HNRNPUL1 PKNOX1 ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9 POLR2B DIO1 YIPF1 GC01P053890 MAGOH SSBP3-AS1 ENSG00000279049 LRRC42 HSPB11 CYB5RL ENSG00000230953
GH01I053894 Promoter 1 EPDnew 550.8 +2.9 2929 0.1 DRAP1 FOXA2 TAF1 SAP130 MAX ZNF48 RAD21 RARA YY1 POLR2A DIO1 GC01P053910
GH01I053892 Enhancer 0.8 FANTOM5 Ensembl ENCODE 566.1 +1.6 1599 1.4 MAX ZFP36 MNT DIO1 YIPF1 ENSG00000230953 GC01P053910
GH01I053891 Enhancer 0.7 ENCODE 550.8 0.0 -36 0.2 MTA2 SOX6 TEAD4 TAL1 CBFA2T3 DPF2 ZEB2 EP300 TCF12 NCOR1 DIO1 GC01P053890 YIPF1
GH01I053981 Enhancer 1.1 Ensembl ENCODE 11.1 +91.4 91370 1.6 ELF3 ARID4B DMAP1 ZNF48 RAD21 RARA YY1 ZNF143 THAP11 SMARCA5 TCEANC2 HSPB11 LRRC42 LDLRAD1 DIO1 YIPF1 TMEM59 HNRNPA3P12 GC01P054015
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DIO1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DIO1 gene promoter:

Genomic Locations for DIO1 Gene

Genomic Locations for DIO1 Gene
chr1:53,891,239-53,911,086
(GRCh38/hg38)
Size:
19,848 bases
Orientation:
Plus strand
chr1:54,356,912-54,376,759
(GRCh37/hg19)

Genomic View for DIO1 Gene

Genes around DIO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DIO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DIO1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DIO1 Gene

Proteins for DIO1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for DIO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49895-IOD1_HUMAN
    Recommended name:
    Type I iodothyronine deiodinase
    Protein Accession:
    P49895
    Secondary Accessions:
    • Q1RN02
    • Q3KNP8
    • Q6Q4C1
    • Q6Q4C2
    • Q6Q4C3
    • Q6Q4C4
    • Q6Q4C5
    • Q6Q4C6
    • Q6Q4C7
    • Q6Q4C9
    • Q8WWC6

    Protein attributes for DIO1 Gene

    Size:
    249 amino acids
    Molecular mass:
    28924 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DIO1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DIO1 Gene

Protein Expression for DIO1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for DIO1 Gene

P49895:
  • KFDQFKRL
  • FGSCTUP
  • QYFWFVLKVRWQRLED
  • GNRPLVL

Post-translational modifications for DIO1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DIO1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for DIO1 Gene

Gene Families for DIO1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for DIO1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for DIO1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P49895

UniProtKB/Swiss-Prot:

IOD1_HUMAN :
  • Belongs to the iodothyronine deiodinase family.
Family:
  • Belongs to the iodothyronine deiodinase family.
genes like me logo Genes that share domains with DIO1: view

Function for DIO1 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for DIO1 Gene

GENATLAS Biochemistry:
iodothyronine 5-deiodinase type I,28.7kDa,selenocysteine containing,involved in inappropriate thyroid-stimulating hormone secretion
UniProtKB/Swiss-Prot CatalyticActivity:
3,5,3-triiodo-L-thyronine + iodide + A + H(+) = L-thyroxine + AH(2).
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for DIO1 Gene

Phenotypes From GWAS Catalog for DIO1 Gene

Gene Ontology (GO) - Molecular Function for DIO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004800 thyroxine 5-deiodinase activity TAS --
GO:0008430 selenium binding TAS 1400883
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with DIO1: view
genes like me logo Genes that share phenotypes with DIO1: view

Animal Models for DIO1 Gene

MGI Knock Outs for DIO1:

Animal Model Products

miRNA for DIO1 Gene

miRTarBase miRNAs that target DIO1

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DIO1 Gene

Localization for DIO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DIO1 Gene

Endoplasmic reticulum membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DIO1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
extracellular 2
cytosol 2
mitochondrion 1
peroxisome 1
nucleus 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for DIO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DIO1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DIO1 Gene

Pathways & Interactions for DIO1 Gene

genes like me logo Genes that share pathways with DIO1: view

Interacting Proteins for DIO1 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000354643%0d%0a9606.ENSP00000387683%0d%0a9606.ENSP00000321988%0d%0a9606.ENSP00000338742%0d%0a9606.ENSP00000362549%0d%0a9606.ENSP00000265403%0d%0a
Selected Interacting proteins: ENSP00000354643 P49895-IOD1_HUMAN for DIO1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for DIO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006590 thyroid hormone generation TAS --
GO:0042446 hormone biosynthetic process IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with DIO1: view

No data available for SIGNOR curated interactions for DIO1 Gene

Drugs & Compounds for DIO1 Gene

Products:

  1. Drug

(8) Drugs for DIO1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iodide Approved, Investigational Pharma 0
Levothyroxine Approved Pharma 0
Selenium Approved, Investigational, Vet_approved Pharma 193
Liothyronine Approved, Vet_approved Pharma 0
Selenocysteine Experimental Pharma 0

(4) Additional Compounds for DIO1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
I(-)
Thyroxine sulfate
  • 3,5,3',5'-Tetraiodo-L-thyronine 4'-O-sulfate
  • 3,5,3',5'-Tetraiodo-L-thyronine 4'-O-sulphate
  • 3,5,3',5'-Tetraiodo-L-thyronine 4-O-sulfate
  • 3,5,3',5'-Tetraiodo-L-thyronine 4-O-sulphate
  • 3-[4-(4-Hydroxy-3,5-diiodophenoxy-4-O-sulfate)-3,5-diiodophenyl]-L-alanine
 77074-49-8
genes like me logo Genes that share compounds with DIO1: view

Transcripts for DIO1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for DIO1 Gene

(5) REFSEQ mRNAs :
(17) Additional mRNA sequences :
(47) Selected AceView cDNA sequences:
(17) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DIO1 Gene

Deiodinase, iodothyronine, type I:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DIO1 Gene

No ASD Table

Relevant External Links for DIO1 Gene

GeneLoc Exon Structure for
DIO1
ECgene alternative splicing isoforms for
DIO1

Expression for DIO1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DIO1 Gene

mRNA expression in normal human tissues for DIO1 Gene
mRNA expression by GTEx for DIO1 GenemRNA expression by BioGPS for DIO1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DIO1 Gene

This gene is overexpressed in Liver (x22.5), Thyroid (x22.2), and Kidney - Cortex (x5.9).

Protein differential expression in normal tissues from HIPED for DIO1 Gene

This gene is overexpressed in Monocytes (44.1), Gallbladder (13.4), and Liver (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DIO1 Gene



Protein tissue co-expression partners for DIO1 Gene

NURSA nuclear receptor signaling pathways regulating expression of DIO1 Gene:

DIO1

SOURCE GeneReport for Unigene cluster for DIO1 Gene:

Hs.251415

Evidence on tissue expression from TISSUES for DIO1 Gene

  • Kidney(4.6)
  • Liver(4.6)
  • Thyroid gland(3.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DIO1 Gene

Germ Layers:
  • endoderm
Systems:
  • endocrine
Regions:
Head and neck:
  • neck
  • thyroid
genes like me logo Genes that share expression patterns with DIO1: view

No data available for mRNA Expression by UniProt/SwissProt for DIO1 Gene

Orthologs for DIO1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DIO1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia DIO1 33 34
  • 99.33 (n)
cow
(Bos Taurus)
 Mammalia DIO1 33 34
  • 86.88 (n)
dog
(Canis familiaris)
 Mammalia DIO1 33
  • 84.97 (n)
mouse
(Mus musculus)
 Mammalia Dio1 33 16 34
  • 82.86 (n)
rat
(Rattus norvegicus)
 Mammalia Dio1 33
  • 82.59 (n)
oppossum
(Monodelphis domestica)
 Mammalia DIO1 34
  • 65 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves DIO1 33 34
  • 66.25 (n)
tropical clawed frog
(Silurana tropicalis)
 Amphibia dio1 33
  • 60.06 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.17649 33
zebrafish
(Danio rerio)
 Actinopterygii dio1 33
  • 57.8 (n)
Species where no ortholog for DIO1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DIO1 Gene

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

Paralogs for DIO1 Gene

Paralogs for DIO1 Gene

(2) SIMAP similar genes for DIO1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with DIO1: view

Variants for DIO1 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for DIO1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000023199 -- 53,899,934(+) G/A intron_variant
rs1000099611 -- 53,901,246(+) G/C intron_variant
rs1000674210 -- 53,911,220(+) T/C downstream_transcript_variant
rs1000811227 -- 53,907,098(+) C/G intron_variant
rs1000845038 -- 53,904,252(+) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DIO1 Gene

Variant ID Type Subtype PubMed ID
esv22788 CNV loss 19812545
esv2664536 CNV deletion 23128226
esv3586079 CNV loss 21293372
esv3586080 CNV loss 21293372
nsv1011262 CNV gain 25217958
nsv516392 CNV loss 19592680

Variation tolerance for DIO1 Gene

Residual Variation Intolerance Score: 63.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.54; 29.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DIO1 Gene

Human Gene Mutation Database (HGMD)
DIO1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DIO1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DIO1 Gene

Disorders for DIO1 Gene

Additional Disease Information for DIO1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for DIO1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DIO1 Gene

Publications for DIO1 Gene

  1. A common variation in deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triiodothyronine. (PMID: 18492748) Panicker V … Frayling TM (The Journal of clinical endocrinology and metabolism 2008) 3 22 44 58
  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. (PMID: 17105838) de Jong FJ … Breteler MM (The Journal of clinical endocrinology and metabolism 2007) 3 22 44 58
  3. 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. (PMID: 8964838) Toyoda N … Larsen PR (The Journal of clinical endocrinology and metabolism 1996) 2 3 22 58
  4. Cloning and in vitro expression of the human selenoprotein, type I iodothyronine deiodinase. (PMID: 1400883) Mandel SJ … Larsen PR (The Journal of clinical endocrinology and metabolism 1992) 3 4 22 58
  5. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey LT … EPICURO/Spanish Bladder Cancer Study investigators (European urology 2010) 3 44 58

Products for DIO1 Gene

Sources for DIO1 Gene

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