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    IYD iodotyrosine deiodinase [ Homo sapiens (human) ]

    Gene ID: 389434, updated on 8-Jul-2021

    Summary

    Official Symbol
    IYDprovided by HGNC
    Official Full Name
    iodotyrosine deiodinaseprovided by HGNC
    Primary source
    HGNC:HGNC:21071
    See related
    Ensembl:ENSG00000009765 MIM:612025
    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
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    Genomic context

    See IYD in Genome Data Viewer
    Location:
    6q25.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (150368854..150405969)
    105.20201022 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 RNA, U4 small nuclear 7, pseudogene Neighboring gene signal sequence receptor subunit 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 9409 Neighboring gene alpha-methylacyl-CoA racemase pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
    GeneReviews: Not available
    Genome-wide association study of proneness to anger.
    GeneReviews: Not available
    Iodotyrosine deiodination defect
    MedGen: C0342195 OMIM: 274800 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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 
    is_active_in integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    iodotyrosine deiodinase 1
    Names
    iodotyrosine dehalogenase 1
    NP_001158166.1
    NP_001158167.1
    NP_001305424.1
    NP_981932.1
    XP_006715541.1
    XP_006715542.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001164694.2NP_001158166.1  iodotyrosine deiodinase 1 isoform 1 precursor

      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/Swiss-Prot
      Q6PHW0
      Related
      ENSP00000229447.5, ENST00000229447.9
      Conserved Domains (1) summary
      cd02144
      Location:93229
      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_001164695.2NP_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/Swiss-Prot
      Q6PHW0
      Related
      ENSP00000376085.2, ENST00000392256.6
      Conserved Domains (1) summary
      cd02144
      Location:93232
      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_001318495.2NP_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:42203
      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_203395.3NP_981932.1  iodotyrosine deiodinase 1 isoform 2 precursor

      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
      Q6PHW0
      Related
      ENSP00000343763.4, ENST00000344419.8
      Conserved Domains (1) summary
      cd02144
      Location:93285
      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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      150368854..150405969
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006715478.3XP_006715541.1  iodotyrosine deiodinase 1 isoform X1

      Related
      ENSP00000376084.3, ENST00000392255.7
      Conserved Domains (1) summary
      cd02144
      Location:93231
      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. XM_006715479.3XP_006715542.1  iodotyrosine deiodinase 1 isoform X2

      Conserved Domains (1) summary
      cd02144
      Location:38176
      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.
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