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Aliases for IYD Gene

Aliases for IYD Gene

  • Iodotyrosine Deiodinase 2 3 5
  • Iodotyrosine Dehalogenase 1 3 4
  • C6orf71 3 4
  • DEHAL1 3 4
  • IYD-1 3 4
  • Chromosome 6 Open Reading Frame 71 2
  • Iodotyrosine Deiodinase 1 3
  • EC 1.21.1.1 4
  • TDH4 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 Familial Thyroid Dyshormonogenesis. Among its related pathways are Amine-derived hormones and Viral mRNA Translation. 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) (PubMed:15289438, PubMed:25395621, PubMed:18434651). Acts during the hydrolysis of thyroglobulin to liberate iodide, which can then reenter the hormone-producing pathways (PubMed:18434651). Acts more efficiently on monoiodotyrosine than on diiodotyrosine (PubMed:15289438).

Gene Wiki entry for IYD Gene

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

Genomics for IYD Gene

Regulatory Elements for IYD Gene

Enhancers for IYD 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
GH06G150403 1.2 Ensembl ENCODE 16.3 +34.8 34819 1.1 FEZF1 BRCA1 ZNF2 GLIS2 SP3 REST TSHZ1 ZNF518A ZNF610 GLIS1 IYD SSR1P1 LOC100420304
GH06G150292 1.4 Ensembl ENCODE dbSUPER 11 -75.5 -75544 2.6 PKNOX1 ATF1 ZNF766 CBX5 GATA2 FOS JUNB REST ZNF518A ZNF592 RNU4-7P IYD RAET1E LOC105378054 GC06M150327
GH06G150299 1.2 ENCODE dbSUPER 10.7 -67.4 -67381 4.0 PKNOX1 FOXA2 ATF1 BMI1 FEZF1 ZBTB40 ZNF121 GATA2 SCRT2 ETV6 RNU4-7P IYD GC06M150327 LOC105378054
GH06G150296 1.1 ENCODE dbSUPER 11 -71.3 -71298 1.9 TBP PKNOX1 ATF1 CBX3 KLF17 CHAMP1 ZNF121 ZNF766 CBX5 ZNF350 RNU4-7P LATS1 IYD RAET1E BTF3P10 GC06M150327 LOC105378054
GH06G150071 1.1 Ensembl ENCODE 10.5 -296.6 -296561 1.0 HDGF HDAC1 PKNOX1 KLF17 GLIS2 ZNF366 SCRT2 RCOR1 KLF7 FOS ULBP3 PPP1R14C IYD
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IYD on UCSC Golden Path with GeneCards custom track

Genomic Location for IYD Gene

Chromosome:
6
Start:
150,368,861 bp from pter
End:
150,405,969 bp from pter
Size:
37,109 bases
Orientation:
Plus strand

Genomic View for IYD Gene

Genes around IYD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IYD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 deiodinase 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

Post-translational modifications for IYD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for IYD Gene

Domains & Families for IYD Gene

Protein Domains for IYD Gene

Suggested Antigen Peptide Sequences for IYD Gene

Graphical View of Domain Structure for InterPro Entry

Q6PHW0

UniProtKB/Swiss-Prot:

IYD1_HUMAN :
  • Belongs to the nitroreductase family.
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 iodide = 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) (PubMed:15289438, PubMed:25395621, PubMed:18434651). Acts during the hydrolysis of thyroglobulin to liberate iodide, which can then reenter the hormone-producing pathways (PubMed:18434651). Acts more efficiently on monoiodotyrosine than on diiodotyrosine (PubMed:15289438).

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:0010181 FMN binding IDA 25395621
GO:0016491 oxidoreductase activity TAS,IEA --
genes like me logo Genes that share ontologies with IYD: view

Phenotypes for IYD Gene

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

Human Phenotype Ontology for IYD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets 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. Cytoplasmic vesicle membrane.

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 IYD gene
Compartment Confidence
plasma membrane 5
nucleus 4
extracellular 2
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for IYD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005886 plasma membrane TAS,IDA --
GO:0005887 integral component of plasma membrane IDA 15289438
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with IYD: view

Pathways & Interactions 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:0006570 tyrosine metabolic process IDA 25395621
GO:0006590 thyroid hormone generation TAS --
GO:0042403 thyroid hormone metabolic process IDA 25395621
GO:0055114 oxidation-reduction process IDA,IEA 25395621
GO:0098869 cellular oxidant detoxification IEA --
genes like me logo Genes that share ontologies with IYD: view

No data available for SIGNOR curated interactions for IYD Gene

Drugs & Compounds for IYD Gene

(3) Drugs for IYD Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Tyrosine Approved Nutra 0
3,5-Diiodotyrosine Experimental Pharma Target 0
Flavin Mononucleotide Experimental Pharma 6

(5) Additional Compounds for IYD Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3,5-Diiodo-L-tyrosine
  • 3,5-Diiodotyrocine
  • 3,5-Iodo-L-tyrosine
  • 3,5-L-Diiodotyrosine
  • 4-Hydroxy-3,5-diiodophenylalanine
  • L-3,5-DiioDOTyrosine
300-39-0
I(-)
iodide
  • Iodide
  • Iodide anion
  • Iodide ion
  • Iodide Salt
  • Iodide(1-)
20461-54-5
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
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

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x48.4).

Protein differential expression in normal tissues from HIPED for IYD Gene

This gene is overexpressed in Thyroid (55.2).

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



Protein tissue co-expression partners for IYD Gene

NURSA nuclear receptor signaling pathways regulating expression of IYD Gene:

IYD

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 (at protein level). Expressed at a high level in thyroid gland and at lower level in kidney and trachea.

Evidence on tissue expression from TISSUES for IYD Gene

  • Thyroid gland(4.7)
  • Kidney(4.4)
  • Liver(4.2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • parathyroid
  • pharynx
  • pituitary gland
  • skull
  • thyroid
  • tongue
Thorax:
  • breast
  • heart
  • lung
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • liver
  • small intestine
Pelvis:
  • ovary
  • rectum
  • urinary bladder
  • uterus
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with IYD: view

Primer 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 34 35
  • 99.19 (n)
dog
(Canis familiaris)
Mammalia IYD 34 35
  • 86.62 (n)
cow
(Bos Taurus)
Mammalia IYD 34 35
  • 85.13 (n)
mouse
(Mus musculus)
Mammalia Iyd 34 16 35
  • 84.21 (n)
rat
(Rattus norvegicus)
Mammalia Iyd 34
  • 83.39 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia IYD 35
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IYD 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves IYD 34 35
  • 73.83 (n)
lizard
(Anolis carolinensis)
Reptilia IYD 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia iyd 34
  • 67.25 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100330940 34
  • 65.85 (n)
iyd 35
  • 52 (a)
OneToMany
IYD (1 of 2) 35
  • 52 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5108 34
fruit fly
(Drosophila melanogaster)
Insecta CG6279 34 35
  • 55.65 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005435 34
  • 52.19 (n)
worm
(Caenorhabditis elegans)
Secernentea C02C2.5 34 35
  • 48.09 (n)
Species where no ortholog for IYD was found in the sources mined by GeneCards:
  • 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

(1) 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
rs121918138 Pathogenic, Thyroid dyshormonogenesis 4 (TDH4) [MIM:274800] 150,389,474(+) AGAGA(C/T)GGTCA nc-transcript-variant, reference, synonymous-codon, missense
rs121918139 Pathogenic, Thyroid dyshormonogenesis 4 (TDH4) [MIM:274800] 150,389,520(+) AGTCA(C/T)TGATA intron-variant, nc-transcript-variant, reference, missense
rs121918140 Pathogenic 150,394,226(+) CCATC(A/G)CTTGT nc-transcript-variant, reference, missense
rs863223276 Pathogenic 150,389,488(+) AGGTT(-/CAT)AAGTA intron-variant, nc-transcript-variant, cds-indel
rs11541678 Likely benign 150,404,528(-) ATTGA(C/T)ATGAC nc-transcript-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv1485241 CNV deletion 17803354
esv1594235 CNV deletion 17803354
esv2625832 CNV insertion 19546169
esv2732880 CNV deletion 23290073
esv2732881 CNV deletion 23290073
esv2732882 CNV deletion 23290073
esv2732883 CNV deletion 23290073
esv2732885 CNV deletion 23290073
esv2732886 CNV deletion 23290073
esv2763602 CNV loss 21179565
esv3540631 CNV deletion 23714750
nsv1109824 CNV deletion 24896259
nsv464078 CNV loss 19166990
nsv604849 CNV loss 21841781
nsv819256 CNV gain 19587683
nsv830843 CNV gain+loss 17160897

Variation tolerance for IYD Gene

Residual Variation Intolerance Score: 78.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.12; 69.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IYD Gene

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

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

Disorders for IYD Gene

MalaCards: The human disease database

(10) MalaCards diseases for IYD Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
thyroid dyshormonogenesis 4
  • chdh4
familial thyroid dyshormonogenesis
  • thyroid dyshormonogenesis
congenital hypothyroidism, iyd-related
  • congenital hypothyroidism due to dyshormonogenesis 4
tracheomalacia
  • congenital tracheomalacia
congenital hypothyroidism
  • cretinism
- elite association - COSMIC cancer census association via MalaCards
Search IYD in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for IYD

Genetic Association Database (GAD)
IYD
Human Genome Epidemiology (HuGE) Navigator
IYD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IYD
genes like me logo Genes that share disorders with IYD: view

No data available for Genatlas for IYD Gene

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 22 64
  2. A switch between one- and two-electron chemistry of the human flavoprotein iodotyrosine deiodinase is controlled by substrate. (PMID: 25395621) Hu J. … Rokita S.E. (J. Biol. Chem. 2015) 3 4 64
  3. Genetics and phenomics of hypothyroidism and goiter due to iodotyrosine deiodinase (DEHAL1) gene mutations. (PMID: 20298747) Moreno J.C. … Visser T.J. (Mol. Cell. Endocrinol. 2010) 3 22 64
  4. 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 22 64
  5. Mutations in the iodotyrosine deiodinase gene and hypothyroidism. (PMID: 18434651) Moreno J.C. … Visser T.J. (N. Engl. J. Med. 2008) 3 4 64

Products for IYD Gene

Sources for IYD Gene

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