DIO1 (iodothyronine deiodinase 1)

2003-05-01  

Identity

HGNC
LOCATION
1p32.3
LOCUSID
ALIAS
5DI,TXDI1
FUSION GENES

Other Information

Locus ID:

NCBI: 1733
MIM: 147892
HGNC: 2883
Ensembl: ENSG00000211452

Variants:

dbSNP: 1733
ClinVar: 1733
TCGA: ENSG00000211452
COSMIC: DIO1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000211452ENST00000322679P49895
ENSG00000211452ENST00000361921P49895
ENSG00000211452ENST00000388876P49895
ENSG00000211452ENST00000524406D3DQ42
ENSG00000211452ENST00000525044E9PI35
ENSG00000211452ENST00000525202P49895
ENSG00000211452ENST00000527060E9PM07
ENSG00000211452ENST00000528946C6ZRC2
ENSG00000211452ENST00000529329E9PM07
ENSG00000211452ENST00000529589A0A182DWI2
ENSG00000211452ENST00000530084E9PI35
ENSG00000211452ENST00000532493P49895
ENSG00000211452ENST00000610607A0A087X0G2
ENSG00000211452ENST00000613679A0A087WVX4
ENSG00000211452ENST00000617230A0A087WYB0

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Thyroid hormone signaling pathwayKEGGhsa04919
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Amine-derived hormonesREACTOMER-HSA-209776
Thyroxine biosynthesisREACTOMER-HSA-209968
Regulation of thyroid hormone activityREACTOMER-HSA-350864

References

Pubmed IDYearTitleCitations
191901132009Common variation in the DIO2 gene predicts baseline psychological well-being and response to combination thyroxine plus triiodothyronine therapy in hypothyroid patients.75
197306832009The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors.59
128470932003The iodothyronine selenodeiodinases are thioredoxin-fold family proteins containing a glycoside hydrolase clan GH-A-like structure.50
125867712003In vivo dimerization of types 1, 2, and 3 iodothyronine selenodeiodinases.33
186766802008Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.32
214151432011Deiodinases: the balance of thyroid hormone: type 1 iodothyronine deiodinase in human physiology and disease.32
184927482008A common variation in deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triiodothyronine.28
184927482008A common variation in deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triiodothyronine.28
157852402005Gene expression profiles reveal that DCN, DIO1, and DIO2 are underexpressed in benign and malignant thyroid tumors.27
196921682010Genetic susceptibility to distinct bladder cancer subphenotypes.25

Citation

Dessen P

DIO1 (iodothyronine deiodinase 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40308/dio1