DIO1 Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | DIO1 |
| Official Name | iodothyronine deiodinase 1 [Source:HGNC Symbol;Acc:HGNC:2883] |
| Ensembl ID | ENSG00000211452 |
| Bio databases IDs | |
| Aliases | iodothyronine deiodinase 1, thyroxine 5'-deiodinase, type I iodothyronine deiodinase, selenoprotein DIO1 |
| Synonyms | 5'-deiodinase, 5DI, 5'-MD, D1, Deiodinase, iodothyronine, type i, iodothyronine deiodinase 1, ITDI1, THMA2, TXDI1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DIO1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
- thyroxine 5'-deiodinase
- enzyme
- selenium binding
- thyroxine 5-deiodinase
Pathways
Biological processes and signaling networks where the DIO1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- plasma cell myeloma
- weight gain
- anaplastic thyroid carcinoma
- anaplastic thyroid cancer
- epithelial thyroid cancer
- renal clear cell adenocarcinoma
- renal clear cell cancer
- hyperthyroidism
- thyroid hormone metabolism disorder type 2
- streptozotocin-induced diabetic nephropathy
role in cell
- cell viability
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- perinuclear region
- Plasma Membrane
- Endoplasmic Reticulum
- microsome
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DIO1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- thyroid hormone generation
- cellular amino acid metabolic process
- hormone biosynthetic process
- thyroid hormone metabolic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- thyroxine 5'-deiodinase activity
- selenium binding