Free for academic non-profit institutions. Other users need a Commercial license

Aliases for IYD Gene

Aliases for IYD Gene

  • Iodotyrosine Deiodinase 2 3
  • DEHAL1 3 4 6
  • C6orf71 3 4
  • IYD-1 3 4
  • TDH4 3 6
  • Chromosome 6 Open Reading Frame 71 2
  • Iodotyrosine Dehalogenase 1 3
  • EC 1.22.1.1 4
  • DJ422F24.1 3

External Ids for IYD Gene

Previous HGNC Symbols for IYD Gene

  • C6orf71

Previous GeneCards Identifiers for IYD Gene

  • GC06P150731
  • GC06P148255

Summaries for IYD Gene

Entrez Gene Summary for IYD Gene

  • This gene encodes an enzyme that catalyzes the oxidative NADPH-dependent deiodination of mono- and diiodotyrosine, which are the halogenated byproducts of thyroid hormone production. The N-terminus of the protein functions as a membrane anchor. Mutations in this gene cause congenital hypothyroidism due to dyshormonogenesis type 4, which is also referred to as deiodinase deficiency, or iodotyrosine dehalogenase deficiency, or thyroid hormonogenesis type 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

GeneCards Summary for IYD Gene

IYD (Iodotyrosine Deiodinase) is a Protein Coding gene. Diseases associated with IYD include thyroid dyshormonogenesis 4 and congenital hypothyroidism, iyd-related. Among its related pathways are Metabolism and Metabolism of amino acids and derivatives. GO annotations related to this gene include oxidoreductase activity and iodide peroxidase activity.

UniProtKB/Swiss-Prot for IYD Gene

  • Catalyzes the oxidative NADPH-dependent deiodination of monoiodotyrosine (L-MIT) or diiodotyrosine (L-DIT). Acts during the hydrolysis of thyroglobulin to liberate iodide, which can then reenter the hormone-producing pathways. Acts more efficiently on monoiodotyrosine than on diiodotyrosine.

Gene Wiki entry for IYD Gene

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

Genomics for IYD Gene

Genomic Location for IYD Gene

Start:
150,368,852 bp from pter
End:
150,405,969 bp from pter
Size:
37,118 bases
Orientation:
Plus strand

Genomic View for IYD Gene

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

RefSeq DNA sequence for IYD Gene

Proteins for IYD Gene

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

    Protein Symbol:
    Q6PHW0-IYD1_HUMAN
    Recommended name:
    Iodotyrosine dehalogenase 1
    Protein Accession:
    Q6PHW0
    Secondary Accessions:
    • C9JFW2
    • Q2VPW0
    • Q2VPW1
    • Q5F1L5
    • Q5F1L6
    • Q5THM4
    • Q6ZP69
    • Q7Z7D7
    • Q7Z7D8

    Protein attributes for IYD Gene

    Size:
    289 amino acids
    Molecular mass:
    33360 Da
    Cofactor:
    Name=FMN; Xref=ChEBI:CHEBI:58210;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAY41467.1; Type=Erroneous translation; Evidence={ECO:0000305}; Sequence=BAC85255.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for IYD Gene

    Alternative splice isoforms for IYD Gene

neXtProt entry for IYD Gene

Proteomics data for IYD Gene at MOPED

Post-translational modifications for IYD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for IYD Gene

No data available for DME Specific Peptides for IYD Gene

Domains for IYD Gene

Protein Domains for IYD Gene

Suggested Antigen Peptide Sequences for IYD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6PHW0

UniProtKB/Swiss-Prot:

IYD1_HUMAN :
  • Q6PHW0
Family:
  • Belongs to the nitroreductase family.
genes like me logo Genes that share domains with IYD: view

No data available for Gene Families for IYD Gene

Function for IYD Gene

Molecular function for IYD Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=2.67 uM for L-DIT {ECO:0000269 PubMed:15289438}; KM=1.35 uM for L-MIT {ECO:0000269 PubMed:15289438};
UniProtKB/Swiss-Prot CatalyticActivity: L-tyrosine + 2 NADP(+) + 2 I(-) = 3,5-diiodo-L-tyrosine + 2 NADPH
UniProtKB/Swiss-Prot Function: Catalyzes the oxidative NADPH-dependent deiodination of monoiodotyrosine (L-MIT) or diiodotyrosine (L-DIT). Acts during the hydrolysis of thyroglobulin to liberate iodide, which can then reenter the hormone-producing pathways. Acts more efficiently on monoiodotyrosine than on diiodotyrosine.

Enzyme Numbers (IUBMB) for IYD Gene

Gene Ontology (GO) - Molecular Function for IYD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004447 iodide peroxidase activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0016491 oxidoreductase activity TAS --
genes like me logo Genes that share ontologies with IYD: view

Phenotypes for IYD Gene

GenomeRNAi human phenotypes for IYD:
genes like me logo Genes that share phenotypes with IYD: view

Animal Model Products

miRNA for IYD Gene

miRTarBase miRNAs that target IYD

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for IYD Gene

Localization for IYD Gene

Subcellular locations from UniProtKB/Swiss-Prot for IYD Gene

Cell membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IYD Gene COMPARTMENTS Subcellular localization image for IYD gene
Compartment Confidence
plasma membrane 5
extracellular 2
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for IYD Gene

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

Pathways for IYD Gene

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

Pathways by source for IYD Gene

Gene Ontology (GO) - Biological Process for IYD Gene

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

Compounds for IYD Gene

(3) HMDB Compounds for IYD Gene

Compound Synonyms Cas Number PubMed IDs
Flavin Mononucleotide
  • FMN
146-17-8
Iodide
  • Iodide
20461-54-5
NADPH
  • 2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
53-57-6

(1) Drugbank Compounds for IYD Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
3,5-Diiodotyrosine
300-39-0 target
genes like me logo Genes that share compounds with IYD: view

Transcripts for IYD Gene

Unigene Clusters for IYD Gene

Iodotyrosine deiodinase:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IYD

Primer Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for IYD Gene

GeneLoc Exon Structure for
IYD
ECgene alternative splicing isoforms for
IYD

Expression for IYD Gene

mRNA expression in normal human tissues for IYD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Thyroid (48.4).

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

SOURCE GeneReport for Unigene cluster for IYD Gene Hs.310225

mRNA Expression by UniProt/SwissProt for IYD Gene

Q6PHW0-IYD1_HUMAN
Tissue specificity: Expressed at a high level in thyroid gland and at lower level in kidney and trachea.
genes like me logo Genes that share expressions with IYD: view

In Situ Assay Products

Orthologs for IYD Gene

This gene was present in the common ancestor of animals.

Orthologs for IYD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IYD 35
  • 99.19 (n)
  • 98.27 (a)
IYD 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IYD 35
  • 85.13 (n)
  • 86.41 (a)
IYD 36
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IYD 35
  • 86.62 (n)
  • 88.24 (a)
IYD 36
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Iyd 35
  • 84.21 (n)
  • 85.96 (a)
Iyd 16
Iyd 36
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IYD 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IYD 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Iyd 35
  • 83.39 (n)
  • 84.91 (a)
chicken
(Gallus gallus)
Aves IYD 35
  • 73.83 (n)
  • 72.89 (a)
IYD 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IYD 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia iyd 35
  • 67.25 (n)
  • 71.58 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5108 35
zebrafish
(Danio rerio)
Actinopterygii iyd 36
  • 52 (a)
OneToMany
IYD (1 of 2) 36
  • 52 (a)
OneToMany
LOC100330940 35
  • 65.85 (n)
  • 67.72 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005435 35
  • 52.19 (n)
  • 47.69 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6279 35
  • 55.65 (n)
  • 58.05 (a)
CG6279 36
  • 13 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C02C2.5 35
  • 48.09 (n)
  • 43.85 (a)
C02C2.5 36
  • 21 (a)
OneToOne
Species with no ortholog for IYD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)

Evolution for IYD Gene

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

Paralogs for IYD Gene

Selected SIMAP similar genes for IYD Gene using alignment to 5 proteins:

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

No data available for Paralogs for IYD Gene

Variants for IYD Gene

Sequence variations from dbSNP and Humsavar for IYD Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs581695 -- 150,394,873(-) ccagc(C/T)tgggt intron-variant
rs581697 -- 150,394,870(+) gtcac(C/T)caagc intron-variant
rs587713 -- 150,400,093(-) ACCCA(C/T)GTTAC utr-variant-3-prime
rs588036 -- 150,377,538(-) ACAAA(C/T)GATCC intron-variant
rs599339 -- 150,399,852(-) AAGGA(C/T)GGGGC utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv830843 CNV Gain+Loss 17160897
esv2625832 CNV Insertion 19546169
esv2732880 CNV Deletion 23290073
esv2732881 CNV Deletion 23290073
esv2732882 CNV Deletion 23290073
esv2732883 CNV Deletion 23290073
esv1594235 CNV Deletion 17803354
esv2732885 CNV Deletion 23290073
esv2732886 CNV Deletion 23290073
esv1485241 CNV Deletion 17803354
nsv464078 CNV Loss 19166990
nsv819256 CNV Gain 19587683

Relevant External Links for IYD Gene

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

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

Disorders for IYD Gene

(1) OMIM Diseases for IYD Gene (612025)

UniProtKB/Swiss-Prot

IYD1_HUMAN
  • Thyroid dyshormonogenesis 4 (TDH4) [MIM:274800]: A disorder due to thyroid dyshormonogenesis, causing severe hypothyroidism, goiter, excessive levels of iodotyrosine in serum and urine, and variable mental deficits derived from unrecognized and untreated hypothyroidism. {ECO:0000269 PubMed:18434651}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for IYD Gene

Relevant External Links for IYD

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

Publications for IYD Gene

  1. Iodotyrosine dehalogenase 1 (DEHAL1) is a transmembrane protein involved in the recycling of iodide close to the thyroglobulin iodination site. (PMID: 15289438) Gnidehou S. … Dupuy C. (FASEB J. 2004) 2 3 4 23
  2. Cloning and characterization of a novel isoform of iodotyrosine dehalogenase 1 (DEHAL1) DEHAL1C from human thyroid: comparisons with DEHAL1 and DEHAL1B. (PMID: 16910871) Gnidehou S. … Dupuy C. (Thyroid 2006) 3 23
  3. Characterisation of DEHAL1 expression in thyroid pathologies. (PMID: 17322488) Krause K. … Fuhrer D. (Eur. J. Endocrinol. 2007) 3 23
  4. Molecular characterization of iodotyrosine dehalogenase deficiency in patients with hypothyroidism. (PMID: 18765512) Afink G. … Ris-Stalpers C. (J. Clin. Endocrinol. Metab. 2008) 3 23
  5. Crystal structure of iodotyrosine deiodinase, a novel flavoprotein responsible for iodide salvage in thyroid glands. (PMID: 19436071) Thomas S.R. … Rokita S.E. (J. Biol. Chem. 2009) 3 23

Products for IYD Gene

Sources for IYD Gene

Back to Top

Content