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Aliases for DIO1 Gene

Aliases for DIO1 Gene

  • Iodothyronine Deiodinase 1 2 3
  • Deiodinase, Iodothyronine Type I 2 3 5
  • 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 61
  • EC 1.21.99.4 4
  • EC 1.97.1 61
  • 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 Metabolism and Amine-derived hormones. 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.

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

Regulatory Elements for DIO1 Gene

Enhancers for DIO1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F053892 1.2 FANTOM5 Ensembl ENCODE 16.1 +1.7 1676 1.5 ZFHX2 REST MNT EGR2 DIO1 YIPF1 ENSG00000230953 GC01P053910
GH01F053889 0.5 ENCODE 15.5 -1.2 -1204 1.9 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF207 FOS ENSG00000228838 RPL37P7 LOC105378729 LOC100652967 DIO1 HSPB11 YIPF1
GH01F053918 0.6 ENCODE 12.4 +27.8 27780 1.1 SOX13 CTCF ELF3 SAP130 CEBPG ZNF644 TEAD3 SLC30A9 ZNF121 ZBTB48 HSPB11 LRRC42 DIO1 YIPF1 RPL37P7 NDC1 LDLRAD1 RNU7-95P GC01P053910 GC01P053939
GH01F053860 1 ENCODE 11.5 -30.2 -30177 0.2 SCRT1 CTCF ZNF654 ARID4B TRIM22 REST RAD21 GLIS1 SCRT2 ZNF341 LRRC42 HSPB11 YIPF1 DIO1 RPL37P7 GC01P053890
GH01F053971 0.2 ENCODE 11 +80.8 80772 1.1 ZNF316 KDM1A EMSY LRRC42 HSPB11 LDLRAD1 NDC1 RPL37P7 DIO1 YIPF1 TCEANC2 GC01M053970 HNRNPA3P12
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DIO1 on UCSC Golden Path with GeneCards custom track

Promoters for DIO1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001520317 -1539 1801 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF207 FOS

Genomic Location for DIO1 Gene

Chromosome:
1
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

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 StructureGene Density

RefSeq DNA sequence 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

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

Domains & Families for DIO1 Gene

Gene Families for DIO1 Gene

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

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 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

Human Phenotype Ontology for DIO1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DIO1 Gene

MGI Knock Outs for DIO1:

Animal Model Products

miRNA for DIO1 Gene

miRTarBase miRNAs that target DIO1

Flow Cytometry Products

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

Pathways & Interactions 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: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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Levothyroxine Approved Pharma 0
Liothyronine Approved, Vet_approved Pharma 0
Selenocysteine Experimental Pharma 0
Selenium Pharma 175

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
iodide
  • Iodide
  • Iodide anion
  • Iodide ion
  • Iodide Salt
  • Iodide(1-)
20461-54-5
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

Unigene Clusters for DIO1 Gene

Deiodinase, iodothyronine, type I:
Representative Sequences:

Flow Cytometry 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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, PaxDb, 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
genes like me logo Genes that share expression patterns with DIO1: view

Primer Products

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 34 35
  • 99.33 (n)
cow
(Bos Taurus)
Mammalia DIO1 34 35
  • 86.88 (n)
dog
(Canis familiaris)
Mammalia DIO1 34
  • 84.97 (n)
mouse
(Mus musculus)
Mammalia Dio1 34 16 35
  • 82.86 (n)
rat
(Rattus norvegicus)
Mammalia Dio1 34
  • 82.59 (n)
oppossum
(Monodelphis domestica)
Mammalia DIO1 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves DIO1 34 35
  • 66.25 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia dio1 34
  • 60.06 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17649 34
zebrafish
(Danio rerio)
Actinopterygii dio1 34
  • 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

Sequence variations from dbSNP and Humsavar for DIO1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10635354 -- 53,897,495(+) AAAAT(-/ATAAA/ATAAAATAAA)ATAAA intron-variant
rs10687324 -- 53,897,511(+) TAAAA(-/TAAAA)ACTGT intron-variant
rs10788969 -- 53,892,313(+) TCTCA(C/T)GCCTG upstream-variant-2KB
rs10788970 -- 53,892,397(+) ATGGC(A/G)AAACC upstream-variant-2KB
rs10888816 -- 53,895,725(+) GGCTC(C/T)AGCTT 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)

Relevant External Links for DIO1 Gene

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

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

Disorders for DIO1 Gene

Relevant External Links for DIO1

Genetic Association Database (GAD)
DIO1
Human Genome Epidemiology (HuGE) Navigator
DIO1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DIO1

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 T.M. (J. Clin. Endocrinol. Metab. 2008) 3 22 46 64
  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 F.J. … Breteler M.M. (J. Clin. Endocrinol. Metab. 2007) 3 22 46 64
  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 P.R. (J. Clin. Endocrinol. Metab. 1996) 2 3 22 64
  4. 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 22 64
  5. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey L.T. … Malats N. (Eur. Urol. 2010) 3 46 64

Products for DIO1 Gene

Sources for DIO1 Gene

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