DIO1 (iodothyronine deiodinase 1)

2003-05-01  

Identity

HGNC
DIO1
LOCATION
1p32.3
LOCUSID
1733
ALIAS
5DI,TXDI1
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
383657202024A regulatory element associated to NAFLD in the promoter of DIO1 controls LDL-C, HDL-C and triglycerides in hepatic cells.1
383657202024A regulatory element associated to NAFLD in the promoter of DIO1 controls LDL-C, HDL-C and triglycerides in hepatic cells.1
375635802023SNP rs11185644 in RXRA gene and SNP rs2235544 in DIO1 gene predict dosage requirements in a cross-sectional sample of hypothyroid patients.0
375635802023SNP rs11185644 in RXRA gene and SNP rs2235544 in DIO1 gene predict dosage requirements in a cross-sectional sample of hypothyroid patients.0
359647882022Association between phenols and thyroid hormones: The role of iodothyronine deiodinase genes.5
359647882022Association between phenols and thyroid hormones: The role of iodothyronine deiodinase genes.5
327182242021Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism.19
341283972021Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism.3
327182242021Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism.19
341283972021Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism.3
328074522020Deiodinases, organic anion transporter polypeptide polymorphisms and symptoms of anxiety and depression after ischemic stroke.5
328074522020Deiodinases, organic anion transporter polypeptide polymorphisms and symptoms of anxiety and depression after ischemic stroke.5
307376772019Type 1 and type 2 iodothyronine deiodinases in the thyroid gland of patients with huge goitrous Hashimoto's thyroiditis.1
312506142019[Association between DIO polymorphism and aerobic endurance].0
307376772019Type 1 and type 2 iodothyronine deiodinases in the thyroid gland of patients with huge goitrous Hashimoto's thyroiditis.1

Citation

Dessen P

DIO1 (iodothyronine deiodinase 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

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