DIO1 (iodothyronine deiodinase 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1733
Gene name Gene Name - the full gene name approved by the HGNC.
Iodothyronine deiodinase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DIO1
Synonyms (NCBI Gene) Gene synonyms aliases
5DI, THMA2, TXDI1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
THMA2
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p32.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 assay, qRT-PCR, Western blot 21912701
MIRT006136 hsa-miR-224-5p Luciferase reporter assay, qRT-PCR, Western blot 21912701
MIRT006137 hsa-miR-383-5p Luciferase reporter assay, qRT-PCR, Western blot 21912701
MIRT006137 hsa-miR-383-5p Luciferase reporter assay, qRT-PCR, Western blot 21912701
MIRT006136 hsa-miR-224-5p Luciferase reporter assay, qRT-PCR, Western blot 21912701
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
GO ID Ontology Definition Evidence Reference
GO:0004800 Function Thyroxine 5'-deiodinase activity IBA 21873635
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005886 Component Plasma membrane TAS
GO:0006520 Process Cellular amino acid metabolic process IGI 26305885
GO:0006590 Process Thyroid hormone generation TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
147892 2883 ENSG00000211452
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Multiple myeloma Multiple Myeloma rs11540652, rs78311289, rs121913482, rs397507340, rs121913343, rs121913240, rs121913529, rs730882018, rs1057517992, rs121913527, rs756183569, rs746646631, rs1574706907, rs372078034, rs745380962
View all (38 more)		 23502783
Show/Hide Text Mining Associations (19)
Associations from Text Mining
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