DIO1 - iodothyronine deiodinase 1 Gene

Also Known as 5DI; THMA2; TXDI1

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 1733

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
Biological Process GO Annotation Evidence 参考文献 由来
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

関連疾患

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

生物種 Symbol 由来 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
Others DIO1 NCBI