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    IYD iodotyrosine deiodinase [ Homo sapiens (human) ]

    Gene ID: 389434, updated on 2-Nov-2024

    Summary

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    Official Symbol
    IYDprovided by HGNC
    Official Full Name
    iodotyrosine deiodinaseprovided by HGNC
    Primary source
    HGNC:HGNC:21071
    See related
    Ensembl:ENSG00000009765 MIM:612025; AllianceGenome:HGNC:21071
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TDH4; IYD-1; DEHAL1; C6orf71
    Summary
    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]
    Expression
    Restricted expression toward thyroid (RPKM 256.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See IYD in Genome Data Viewer
    Location:
    6q25.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (150369012..150405969)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (151569713..151606528)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (150690148..150727105)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378054 Neighboring gene CRISPRi-validated cis-regulatory element chr6.5240 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:150594726-150595226 Neighboring gene Sharpr-MPRA regulatory region 1657 Neighboring gene RNA, U4 small nuclear 7, pseudogene Neighboring gene MPRA-validated peak6214 silencer Neighboring gene Sharpr-MPRA regulatory region 14815 Neighboring gene signal sequence receptor subunit 1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:150739968-150740536 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:150740537-150741103 Neighboring gene alpha-methylacyl-CoA racemase pseudogene Neighboring gene uncharacterized LOC124901429

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C).
      Title: Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C).
    2. Redox control of iodotyrosine deiodinase.
      Title: Redox control of iodotyrosine deiodinase.
    3. The rate-limiting processes that contribute to the ability of flavin to promote reductive dehalogenation in human IYD.
      Title: Rapid kinetics of dehalogenation promoted by iodotyrosine deiodinase from human thyroid.
    4. A switch between one- and two-electron chemistry of iodotyrosine deiodinase is controlled by substrate.
      Title: A switch between one- and two-electron chemistry of the human flavoprotein iodotyrosine deiodinase is controlled by substrate.
    5. Iodotyrosine deiodinase defect identified via genome-wide approach.
      Title: Iodotyrosine deiodinase defect identified via genome-wide approach.
    6. high activity of human saliva peroxidase with iodide as a substrate may play a crucial role in the bioavailability and metabolism of biologically active iodide.
      Title: [Biochemical characteristics of iodperoxidase activity of human saliva].
    7. Mutations in DEHAL1 leads to hypothyroidism, goiter and mental retardation (Review)
      Title: Genetics and phenomics of hypothyroidism and goiter due to iodotyrosine deiodinase (DEHAL1) gene mutations.
    8. This study describes a functional mutation within IYD, demonstrating the molecular basis of the iodine wasting form of congenital hypothyroidism
      Title: Molecular characterization of iodotyrosine dehalogenase deficiency in patients with hypothyroidism.
    9. the cytoplasmic tail of DEHAL1 could play a role in the stability of the protein
      Title: Cloning and characterization of a novel isoform of iodotyrosine dehalogenase 1 (DEHAL1) DEHAL1C from human thyroid: comparisons with DEHAL1 and DEHAL1B.
    10. homozygous mutations in DEHAL1 appear to cause human iodotyrosine deiodinase deficiency, leading to hereditary hypothyroidism and goiter
      Title: Mutations in the iodotyrosine deiodinase gene and hypothyroidism.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Iodotyrosine deiodination defect
    MedGen: C0342195 OMIM: 274800 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
    EBI GWAS Catalog
    Genome-wide association study of proneness to anger.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables FMN binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables iodotyrosine deiodinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables iodotyrosine deiodinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables oxidoreductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in thyroid hormone metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in thyroid hormone metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in tyrosine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in tyrosine metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasmic vesicle membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    iodotyrosine deiodinase 1
    Names
    iodotyrosine dehalogenase 1
    NP_001158166.1
    NP_001158167.1
    NP_001305424.1
    NP_981932.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016007.2 RefSeqGene

      Range
      5121..42078
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164694.2 → NP_001158166.1  iodotyrosine deiodinase 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1, also known as B).
      Source sequence(s)
      AI823392, AL031010, AY259177
      Consensus CDS
      CCDS55067.1
      UniProtKB/TrEMBL
      C9JXJ9
      Related
      ENSP00000229447.5, ENST00000229447.9
      Conserved Domains (1) summary
      cd02144
      Location:93 → 229
      iodotyrosine_dehalogenase; Iodotyrosine dehalogenase catalyzes the removal of iodine from the 3, 5 positions of L-tyosine in thyroid, liver and kidney, using NADPH as electron donor. This enzyme is a homolog of the nitroreductase family. These enzymes are usually homodimers.

    2. NM_001164695.2 → NP_001158167.1  iodotyrosine deiodinase 1 isoform 3

      See identical proteins and their annotated locations for NP_001158167.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' coding region compared to variant 1. The encoded isoform (3, also known as E) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AI823392, AL031010, AY259176, AY957659
      Consensus CDS
      CCDS55066.1
      UniProtKB/TrEMBL
      C9JXJ9
      Related
      ENSP00000376085.2, ENST00000392256.6
      Conserved Domains (1) summary
      cd02144
      Location:93 → 232
      iodotyrosine_dehalogenase; Iodotyrosine dehalogenase catalyzes the removal of iodine from the 3, 5 positions of L-tyosine in thyroid, liver and kidney, using NADPH as electron donor. This enzyme is a homolog of the nitroreductase family. These enzymes are usually homodimers.

    3. NM_001318495.2 → NP_001305424.1  iodotyrosine deiodinase 1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains multiple differences in the 5' and 3' coding regions compared to variant 1. The encoded isoform (4, also known as G) has distinct N- and C-termini compared to isoform 1.
      Source sequence(s)
      AI823392, AL031010, AY259176, AY957662
      UniProtKB/Swiss-Prot
      Q6PHW0
      UniProtKB/TrEMBL
      Q2VPV9
      Conserved Domains (1) summary
      cd02144
      Location:42 → 203
      iodotyrosine_dehalogenase; Iodotyrosine dehalogenase catalyzes the removal of iodine from the 3, 5 positions of L-tyosine in thyroid, liver and kidney, using NADPH as electron donor. This enzyme is a homolog of the nitroreductase family. These enzymes are usually homodimers.

    4. NM_203395.3 → NP_981932.1  iodotyrosine deiodinase 1 isoform 2

      See identical proteins and their annotated locations for NP_981932.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (2, also known as A) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AI823392, AL031010, AY259176
      Consensus CDS
      CCDS5227.1
      UniProtKB/Swiss-Prot
      C9JFW2, Q2VPW0, Q2VPW1, Q5F1L5, Q5F1L6, Q5THM4, Q6PHW0, Q6ZP69, Q7Z7D7, Q7Z7D8
      Related
      ENSP00000343763.4, ENST00000344419.8
      Conserved Domains (1) summary
      cd02144
      Location:93 → 285
      iodotyrosine_dehalogenase; Iodotyrosine dehalogenase catalyzes the removal of iodine from the 3, 5 positions of L-tyosine in thyroid, liver and kidney, using NADPH as electron donor. This enzyme is a homolog of the nitroreductase family. These enzymes are usually homodimers.

    RNA

    1. NR_134655.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 3' region compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI823392, AL031010, AY259176, AY957660

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      150369012..150405969
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      151569713..151606528
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PHW0.2 GenPept UniProtKB/Swiss-Prot:Q6PHW0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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