Format

Send to:

Choose Destination

IYD iodotyrosine deiodinase [ Homo sapiens (human) ]

Gene ID: 389434, updated on 4-Oct-2020

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

Genomic context

See IYD in Genome Data Viewer
Location:
6q25.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (150368854..150405969)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (150689987..150725765)

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
FMN binding IDA
Inferred from Direct Assay
more info
PubMed 
iodide peroxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidoreductase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular oxidant detoxification IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IDA
Inferred from Direct Assay
more info
PubMed 
thyroid hormone generation TAS
Traceable Author Statement
more info
 
thyroid hormone metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thyroid hormone metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
tyrosine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tyrosine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasmic vesicle membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
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)

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
    ENSP00000343763.3, ENST00000344419.7
    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 109.20200815

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.
Support Center