DIO1 (iodothyronine deiodinase 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1733
Gene name Iodothyronine deiodinase 1
Gene symbol DIO1
Synonyms (NCBI Gene)
5DITHMA2TXDI1
Chromosome 1
Chromosome location 1p32.3
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 conversio
miRNA miRNA information provided by mirtarbase database.
13
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (13)
miRTarBase ID miRNA Experiments Reference
MIRT006136 hsa-miR-224-5p Luciferase reporter assayqRT-PCRWestern blot 21912701
MIRT006136 hsa-miR-224-5p Luciferase reporter assayqRT-PCRWestern blot 21912701
MIRT006137 hsa-miR-383-5p Luciferase reporter assayqRT-PCRWestern blot 21912701
MIRT006137 hsa-miR-383-5p Luciferase reporter assayqRT-PCRWestern blot 21912701
MIRT006136 hsa-miR-224-5p Luciferase reporter assayqRT-PCRWestern blot 21912701
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0004800 Function Thyroxine 5'-deiodinase activity IBA
GO:0004800 Function Thyroxine 5'-deiodinase activity IDA 12586771, 32718224
GO:0004800 Function Thyroxine 5'-deiodinase activity IEA
GO:0004800 Function Thyroxine 5'-deiodinase activity TAS 1400883
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
147892 2883 ENSG00000211452
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P49895
Protein name Type I iodothyronine deiodinase (EC 1.21.99.3) (EC 1.21.99.4) (5DI) (DIOI) (Type 1 DI) (Type-I 5'-deiodinase)
Protein function Plays a crucial role in the metabolism of thyroid hormones (TH) and has specific roles in TH activation and inactivation by deiodination (PubMed:12586771, PubMed:32718224, PubMed:18821722). Catalyzes the deiodination of L-thyroxine (T4) to 3,5,3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00837 T4_deiodinase 8 → 248 Iodothyronine deiodinase Family
Sequence
Sequence length 249
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Hormone signaling
Thyroid hormone signaling pathway 		  Regulation of thyroid hormone activity
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Thyroid hormone metabolism, abnormal, 2 Pathogenic rs754694815, rs201420507 RCV002248330
RCV002248331
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Levothyroxine response drug response rs2235544 RCV003317017
Show/Hide Text Mining Associations (19)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 26199857
Carcinoma Renal Cell Inhibit 21912701
Congenital Hypothyroidism Associate 34128397
Cytokine Release Syndrome Associate 25174507
Death Associate 32514186
Developmental Disabilities Associate 34128397
Euthyroid Sick Syndromes Associate 10930442, 29894998
Fatty Liver Associate 39312733
Hemolytic Uremic Syndrome Inhibit 25174507
Hypothyroidism Associate 35813623, 37563580