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DIO1 iodothyronine deiodinase 1 [ Homo sapiens (human) ]

Gene ID: 1733, updated on 11-Sep-2019

Summary

Official Symbol
DIO1provided by HGNC
Official Full Name
iodothyronine deiodinase 1provided by HGNC
Primary source
HGNC:HGNC:2883
See related
Ensembl:ENSG00000211452 MIM:147892
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
5DI; TXDI1
Summary
The protein encoded by this gene belongs to the iodothyronine deiodinase family. It catalyzes the activation, as well as the inactivation of thyroid hormone by outer and inner ring deiodination, respectively. The activation reaction involves the conversion of the prohormone thyroxine (3,5,3',5'-tetraiodothyronine, T4), secreted by the thyroid gland, to the bioactive thyroid hormone (3,5,3'-triiodothyronine, T3) by 5'-deiodination. This protein provides most of the circulating T3, which is essential for growth, differentiation and basal metabolism in vertebrates. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2018]
Expression
Biased expression in thyroid (RPKM 180.4), kidney (RPKM 58.4) and 1 other tissue See more
Orthologs

Genomic context

See DIO1 in Genome Data Viewer
Location:
1p32.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (53894187..53911086)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (54359860..54376763)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L37 pseudogene 7 Neighboring gene Yip1 domain family member 1 Neighboring gene Sharpr-MPRA regulatory region 3939 Neighboring gene heat shock protein family B (small) member 11 Neighboring gene leucine rich repeat containing 42 Neighboring gene Sharpr-MPRA regulatory region 11594

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

NHGRI GWAS Catalog

Description
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
NHGRI GWA Catalog
The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.
NHGRI GWA Catalog

Pathways from BioSystems

  • Amine-derived hormones, organism-specific biosystem (from REACTOME)
    Amine-derived hormones, organism-specific biosystemCatecholamines and thyroxine are synthesized from tyrosine, and serotonin and melatonin from tryptophan.
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
    Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
  • Regulation of thyroid hormone activity, organism-specific biosystem (from REACTOME)
    Regulation of thyroid hormone activity, organism-specific biosystemThe iodothyronine deiodinases (DIO) are dimeric, membrane-bound enzymes that regulate the activity of thyroid hormone by removal of specific iodines from the precursor T4. There are three types of DI...
  • Selenium Metabolism and Selenoproteins, organism-specific biosystem (from WikiPathways)
    Selenium Metabolism and Selenoproteins, organism-specific biosystem* Comments belonging to specific genes on the Selenoprotein pathway ** TRXND3 gene: Although the geneID is correct, the sequence of this gene was guessed by analogy. ** Cystathionine gamma-lyase is t...
  • Selenium Micronutrient Network, organism-specific biosystem (from WikiPathways)
    Selenium Micronutrient Network, organism-specific biosystem
    Selenium Micronutrient Network
  • Thyroid hormone signaling pathway, organism-specific biosystem (from KEGG)
    Thyroid hormone signaling pathway, organism-specific biosystemThe thyroid hormones (THs) are important regulators of growth, development and metabolism. The action of TH is mainly mediated by T3 (3,5,3'-triiodo-L-thyronine). Thyroid hormones, L-thyroxine (T4) a...
  • Thyroxine biosynthesis, organism-specific biosystem (from REACTOME)
    Thyroxine biosynthesis, organism-specific biosystemThyroxine (3,5,3',5'-tetraiodothyronine, T4) promotes normal growth and development. It also regulates heat and energy production. T4 is released from the thyroid gland, the largest endocrine organ i...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC130050, MGC130051

Gene Ontology Provided by GOA

Function Evidence Code Pubs
selenium binding TAS
Traceable Author Statement
more info
PubMed 
thyroxine 5'-deiodinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
hormone biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
thyroid hormone generation TAS
Traceable Author Statement
more info
 
thyroid hormone metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
type I iodothyronine deiodinase
Names
DIOI
deiodinase, iodothyronine type I
iodothyronine deiodinase type 1
thyroxine 5'-deiodinase
thyroxine deiodinase type I (selenoprotein)
type 1 DI
type-I 5'-deiodinase
NP_000783.2
NP_001034804.1
NP_001034805.1
NP_001311245.1
NP_998758.1

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_023306.1 RefSeqGene

    Range
    5000..21899
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000792.7NP_000783.2  type I iodothyronine deiodinase isoform a

    See identical proteins and their annotated locations for NP_000783.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AK290780, BC017955, BE046205
    Consensus CDS
    CCDS41339.1
    UniProtKB/Swiss-Prot
    P49895
    UniProtKB/TrEMBL
    A8K415
    Related
    ENSP00000354643.3, ENST00000361921.7
    Conserved Domains (1) summary
    cl00388
    Location:8248
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
  2. NM_001039715.3NP_001034804.1  type I iodothyronine deiodinase isoform c

    See identical proteins and their annotated locations for NP_001034804.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the coding region compared to variant 1. The resulting isoform (c) is shorter, lacking an internal selenocysteine-containing protein segment compared to isoform a.
    Source sequence(s)
    AK290780, AY560377, BC017955, BE046205
    Consensus CDS
    CCDS30722.1
    UniProtKB/Swiss-Prot
    P49895
    UniProtKB/TrEMBL
    A8K415
    Related
    ENSP00000373528.3, ENST00000388876.3
    Conserved Domains (1) summary
    cl00388
    Location:8200
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
  3. NM_001039716.3NP_001034805.1  type I iodothyronine deiodinase isoform d

    See identical proteins and their annotated locations for NP_001034805.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an exon in the 3' coding region, which causes a frameshift compared to variant 1. The resulting isoform (d) is shorter, with a distinct C-terminus compared to isoform a.
    Source sequence(s)
    AK290780, BC017955, BE046205
    Consensus CDS
    CCDS41340.1
    UniProtKB/Swiss-Prot
    P49895
    UniProtKB/TrEMBL
    A8K415
    Related
    ENSP00000323198.6, ENST00000322679.10
    Conserved Domains (1) summary
    cl00388
    Location:8160
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
  4. NM_001324316.2NP_001311245.1  type I iodothyronine deiodinase isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two internal exons, which causes a frameshift compared to variant 1. The resulting shorter isoform (e) has the same N-terminus but a distinct C-terminus compared to isoform a.
    Source sequence(s)
    AK290780, AY560381, BC017955, BE046205
    Consensus CDS
    CCDS81328.1
    UniProtKB/Swiss-Prot
    P49895
    UniProtKB/TrEMBL
    A8K415
    Related
    ENSP00000434758.1, ENST00000532493.5
    Conserved Domains (1) summary
    cl00388
    Location:8113
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
  5. NM_213593.5NP_998758.1  type I iodothyronine deiodinase isoform b

    See identical proteins and their annotated locations for NP_998758.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame donor splice site at the 5' terminal exon compared to variant 1. The resulting isoform (b) is shorter, lacking a 64 aa protein segment in the 5' coding region compared to isoform a.
    Source sequence(s)
    AK290780, AY560375, BC017955, BE046205
    Consensus CDS
    CCDS53320.1
    UniProtKB/Swiss-Prot
    P49895
    UniProtKB/TrEMBL
    A8K415
    Related
    ENSP00000435725.1, ENST00000525202.5
    Conserved Domains (1) summary
    cl00388
    Location:8184
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

RNA

  1. NR_136692.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate donor splice site at the 5' terminal exon compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK290780, AY560379, BC017955, BE046205
  2. NR_136693.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) is alternatively spliced at the 5' end compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK290780, AY560382, BC017955, BE046205

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    53894187..53911086
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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