1. Gene
  2. DIO1 - iodothyronine deiodinase 1 Gene

DIO1 - iodothyronine deiodinase 1 Gene

Homo sapiens

Also known as 5DI; THMA2; TXDI1

Gene ID: 1733 | Gene type: protein coding

About DIO1

Cytogenetic location: 1p32.3 Genomic coordinates (GRCh38): 1:53,894,187-53,911,086 (from NCBI)

This gene has 14 transcripts (splice variants), 219 orthologues, 2 paralogues and is associated with 1 phenotype. Biased expression in thyroid (RPKM 180.4), kidney (RPKM 58.4) and 1 other tissue.

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]

DIO1 Products(5)

mRNA Protein Name
NM_000792.7 NP_000783.2 type I iodothyronine deiodinase isoform a
NM_001039715.3 NP_001034804.1 type I iodothyronine deiodinase isoform c
NM_001039716.3 NP_001034805.1 type I iodothyronine deiodinase isoform d
NM_001324316.2 NP_001311245.1 type I iodothyronine deiodinase isoform e
NM_213593.5 NP_998758.1 type I iodothyronine deiodinase isoform b
Gene Ontology
  • Biological Process
Biological Process GO Annotation Evidence Reference Source
involved in amino acid metabolic process IGI
IGI: Inferred from genetic interaction
26305885 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DIO1 Protein Structure

T4_deiodinase

T4_deiodinase: Iodothyronine deiodinase (8 - 248)

  • 0
  • 100
  • 200
  • 249 a.a.
Protein Preferred Names Protein Names

type I iodothyronine deiodinase

DIOI

Related Diseases

Diseases Alias
Thyroid Hormone Metabolism, Abnormal, 2

THMA2

Euthyroid Sick Syndrome

Euthyroid Sick Syndromes

Sick-Euthyroid Syndrome

Ess - [Euthyroid Sick Syndrome]

Low-T3 Syndrome

Ntis - [Non-Thyroidal Illness Syndrome]

Tscitus - [Thyroid Allostasis In Critical Illness, Tumours, Uraemia And Starvation]

Congenital Hypothyroidism

Cretinism

Neonatal Hypothyroidism

Ch

Cht

Congenital Myxedema

Myxedema, Congenital

Endemic Cretinism

Congenital Iodine-Deficiency Syndrome

Fetal Iodine Deficiency Syndrome

Congenital Iodine-Deficiency Hypothyroidism Nos

Hypothyroidism

Thyroid Diseases

Thyroid Disease

Thyroid Deficiency

Thyroid Insufficiency

Dysfunction Thyroid

Thyroid Dysfunction

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus DIO1 RGD RGD:2504
Felis catus DIO1 VGNC VGNC:107521
Mus musculus DIO1 MGD MGI:94896
Macaca mulatta DIO1 VGNC VGNC:99892