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    IYD iodotyrosine deiodinase [ Homo sapiens (human) ]

    Gene ID: 389434, updated on 27-Nov-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    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
    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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

      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: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/TrEMBL
      C9JXJ9
      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

      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: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: 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)