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Aliases for DIO1 Gene

Aliases for DIO1 Gene

  • Deiodinase, Iodothyronine, Type I 2 3
  • TXDI1 3 4 6
  • Type-I 5-Deiodinase 3 4
  • EC 1.97.1.10 4 64
  • Type 1 DI 3 4
  • DIOI 3 4
  • 5DI 3 4
  • Thyroxine Deiodinase Type I (Selenoprotein) 3
  • Iodothyronine Deiodinase Type 1 3
  • Type I Iodothyronine Deiodinase 3
  • EC 1.97.1 64
  • ITDI1 4

External Ids for DIO1 Gene

Previous Symbols for DIO1 Gene

  • TXDI1

Summaries for DIO1 Gene

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 euthyroid sick syndrome. Among its related pathways are Metabolism and Metabolism of amino acids and derivatives. GO annotations related to this gene include selenium binding and thyroxine 5-deiodinase activity.

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

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

Genomics for DIO1 Gene

Genomic Location for DIO1 Gene

Start:
53,891,239 bp from pter
End:
53,911,086 bp from pter
Size:
19,848 bases
Orientation:
Plus strand

Genomic View for DIO1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DIO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DIO1 Gene

Regulatory Elements for DIO1 Gene

Proteins for DIO1 Gene

  • 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

neXtProt entry for DIO1 Gene

Proteomics data for DIO1 Gene at MOPED

Selected DME Specific Peptides for DIO1 Gene

Post-translational modifications for DIO1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains for DIO1 Gene

UniProtKB/Swiss-Prot:

IOD1_HUMAN
Family:
  • Belongs to the iodothyronine deiodinase family.:
    • P49895
genes like me logo Genes that share domains with DIO1: view

No data available for Gene Families for DIO1 Gene

Function for DIO1 Gene

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

Gene Ontology (GO) - Molecular Function for DIO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004800 thyroxine 5-deiodinase activity IEA --
GO:0008430 selenium binding 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:

miRNA for DIO1 Gene

miRTarBase miRNAs that target DIO1

No data available for Transcription Factor Targeting 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
Jensen Localization Image for DIO1 Gene COMPARTMENTS Subcellular localization image for DIO1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
extracellular 2
cytosol 1
golgi apparatus 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for DIO1 Gene

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

Pathways for DIO1 Gene

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

Interacting Proteins for DIO1 Gene

Gene Ontology (GO) - Biological Process for DIO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006590 thyroid hormone generation TAS --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0042446 hormone biosynthetic process IEA --
GO:0044281 small molecule metabolic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with DIO1: view

Compounds for DIO1 Gene

(6) HMDB Compounds for DIO1 Gene

Compound Synonyms Cas Number PubMed IDs
Iodide
  • Iodide
20461-54-5
Liothyronine
  • 3,3',5-Triiodo-L-thyronine
6893-02-3
Selenium
  • selenium
7782-49-2
Selenocysteine
  • (2R)-2-amino-3-selanylpropanoate
3614-08-2
Thyroxine
  • (-)-Thyroxine
51-48-9

(8) Novoseek inferred chemical compound relationships for DIO1 Gene

Compound -log(P) Hits PubMed IDs
selenocysteine 78.4 3
triiodothyronine 64.1 5
thyroxine 62.7 4
selenite 53.8 2
selenium 50.5 3
genes like me logo Genes that share compounds with DIO1: view

Transcripts for DIO1 Gene

Unigene Clusters for DIO1 Gene

Deiodinase, iodothyronine, type I:
Representative Sequences:

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

mRNA expression in normal human tissues 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 (22.5), Thyroid (22.2), and Kidney - Cortex (5.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for DIO1 Gene

SOURCE GeneReport for Unigene cluster for DIO1 Gene Hs.251415

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

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 36
  • 99.33 (n)
  • 98.8 (a)
DIO1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DIO1 36
  • 86.88 (n)
  • 86.35 (a)
DIO1 37
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DIO1 36
  • 84.97 (n)
  • 82.79 (a)
mouse
(Mus musculus)
Mammalia Dio1 36
  • 82.86 (n)
  • 79.12 (a)
Dio1 16
Dio1 37
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DIO1 37
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dio1 36
  • 82.59 (n)
  • 81.38 (a)
chicken
(Gallus gallus)
Aves DIO1 36
  • 66.25 (n)
  • 63.45 (a)
DIO1 37
  • 43 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.17649 36
tropical clawed frog
(Silurana tropicalis)
Amphibia dio1 36
  • 60.06 (n)
  • 56.22 (a)
zebrafish
(Danio rerio)
Actinopterygii dio1 36
  • 57.8 (n)
  • 50.46 (a)
Species with no ortholog for DIO1:
  • 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

Selected SIMAP similar genes for DIO1 Gene using alignment to 7 proteins:

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

No data available for Paralogs for DIO1 Gene

Variants for DIO1 Gene

Sequence variations from dbSNP and Humsavar for DIO1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs731828 -- 53,902,580(+) ACTTA(A/C)ACAGG intron-variant
rs1883454 -- 53,893,360(+) TCCCA(G/T)TTCTG upstream-variant-2KB
rs1883455 -- 53,897,098(+) GAAAG(C/T)CAGCT intron-variant
rs1883456 -- 53,897,312(+) ctcta(C/T)taaaa intron-variant
rs1883457 -- 53,897,348(+) gcatg(A/C)accta 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
nsv516392 CNV Loss 19592680

Relevant External Links for DIO1 Gene

HapMap Linkage Disequilibrium report
DIO1
Human Gene Mutation Database (HGMD)
DIO1

Disorders for DIO1 Gene

(3) University of Copenhagen DISEASES for DIO1 Gene

(2) Novoseek inferred disease relationships for DIO1 Gene

Disease -log(P) Hits PubMed IDs
selenium deficiency 66.8 1
metastasis 0 1

Relevant External Links for DIO1

Genetic Association Database (GAD)
DIO1
Human Genome Epidemiology (HuGE) Navigator
DIO1
genes like me logo Genes that share disorders with DIO1: view

No data available for UniProtKB/Swiss-Prot for DIO1 Gene

Publications for DIO1 Gene

  1. Cloning and in vitro expression of the human selenoprotein, type I iodothyronine deiodinase. (PMID: 1400883) Mandel S.J. … Larsen P.R. (J. Clin. Endocrinol. Metab. 1992) 3 4 23
  2. 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 P.R. (J. Clin. Endocrinol. Metab. 1996) 2 3 23
  3. 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 F.J. … Breteler M.M. (J. Clin. Endocrinol. Metab. 2007) 3 23 49
  4. A common variation in deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triiodothyronine. (PMID: 18492748) Panicker V. … Frayling T.M. (J. Clin. Endocrinol. Metab. 2008) 3 23 49
  5. The role of thyroidal type-I iodothyronine deiodinase in tri-iodothyronine production by human and sheep thyrocytes in primary culture. (PMID: 8473826) Beech S.G. … Beckett G.J. (J. Endocrinol. 1993) 3 23

Products for DIO1 Gene

Sources for DIO1 Gene

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