IYD iodotyrosine deiodinase [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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).
Redox control of iodotyrosine deiodinase.
Title: Redox control of iodotyrosine deiodinase.
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.
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.
Iodotyrosine deiodinase defect identified via genome-wide approach.
Title: Iodotyrosine deiodinase defect identified via genome-wide approach.
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].
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.
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.
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.
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	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

PMC156606P1 (e-PCR)
- UniSTS:271408

PMC156606P2 (e-PCR)
- UniSTS:271409

D8S2279 (e-PCR)
- UniSTS:473907

sY3084 (e-PCR)
- UniSTS:515126

D10S16 (e-PCR)
- UniSTS:155756

G32253 (e-PCR)
- UniSTS:116852

RH36255 (e-PCR)
- UniSTS:75897

A005O42 (e-PCR)
- UniSTS:76929

RH47932 (e-PCR)
- UniSTS:22931

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

EC 1.21.1.1

NP_001158167.1

EC 1.21.1.1

NP_001305424.1

EC 1.21.1.1

NP_981932.1

EC 1.21.1.1

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

NG_016007.2 RefSeqGene

Range

5121..42078

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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.
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.
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.
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

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