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Aliases for DIO1 Gene

Aliases for DIO1 Gene

  • Deiodinase, Iodothyronine Type I 2 3
  • Deiodinase, Iodothyronine, Type I 3 5
  • 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
  • Type I Iodothyronine Deiodinase 2
  • Iodothyronine Deiodinase Type 1 3
  • EC 1.97.1.10 63
  • EC 1.21.99.4 4
  • EC 1.97.1 63
  • 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 conversion of prohormone thyroxine (3,5,3',5'-tetraiodothyronine, T4) by 5'-deiodination to the bioactive thyroid hormone (3,5,3'-triiodothyronine, T3), which is essential for growth, differentiation and basal metabolism in vertebrates. It is expressed predominantly in liver and kidney and provides most of the circulating T3. This protein contains a selenocysteine (Sec) residue at its active site that 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 (Deiodinase, Iodothyronine Type I) is a Protein Coding gene. Among its related pathways are Metabolism and Viral mRNA Translation. 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

Promoters for DIO1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DIO1 on UCSC Golden Path with GeneCards custom track

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

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 & 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

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

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

  • Taconic Biosciences Mouse Models for DIO1

miRNA for DIO1 Gene

miRTarBase miRNAs that target DIO1

No data available for Gene Ontology (GO) - Molecular Function , 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

No data available for Gene Ontology (GO) - Cellular Components for DIO1 Gene

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:0034641 cellular nitrogen compound metabolic process TAS --
GO:0042446 hormone biosynthetic 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: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Levothyroxine Approved Pharma 0
Liothyronine Approved Pharma 0
Selenocysteine Experimental Pharma 0
Selenium Pharma 166

(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:

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 (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



SOURCE GeneReport for Unigene cluster for DIO1 Gene Hs.251415

genes like me logo Genes that share expression patterns with DIO1: view

Protein tissue co-expression partners for DIO1 Gene

Primer Products

In Situ Assay 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 36
  • 99 (a)
OneToOne
DIO1 35
  • 99.33 (n)
  • 98.8 (a)
cow
(Bos Taurus)
Mammalia DIO1 36
  • 78 (a)
OneToOne
DIO1 35
  • 86.88 (n)
  • 86.35 (a)
dog
(Canis familiaris)
Mammalia DIO1 35
  • 84.97 (n)
  • 82.79 (a)
mouse
(Mus musculus)
Mammalia Dio1 35
  • 82.86 (n)
  • 79.12 (a)
Dio1 36
  • 76 (a)
OneToOne
Dio1 16
oppossum
(Monodelphis domestica)
Mammalia DIO1 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dio1 35
  • 82.59 (n)
  • 81.38 (a)
chicken
(Gallus gallus)
Aves DIO1 36
  • 43 (a)
OneToOne
DIO1 35
  • 66.25 (n)
  • 63.45 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17649 35
tropical clawed frog
(Silurana tropicalis)
Amphibia dio1 35
  • 60.06 (n)
  • 56.22 (a)
zebrafish
(Danio rerio)
Actinopterygii dio1 35
  • 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

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
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
rs1883458 -- 53,897,415(+) aggtt(A/G)cagtg 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

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

HapMap Linkage Disequilibrium report
DIO1
Human Gene Mutation Database (HGMD)
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. 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 67
  2. Disturbed expression of type 1 iodothyronine deiodinase splice variants in human renal cancer. (PMID: 19534619) Piekielko-Witkowska A. … Nauman A. (Thyroid 2009) 3 23
  3. 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
  4. 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
  5. Role of sulfation in thyroid hormone metabolism. (PMID: 8033262) Visser T.J. (Chem. Biol. Interact. 1994) 3 23

Products for DIO1 Gene

Sources for DIO1 Gene

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