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Literature summary extracted from

  • Iglesias, A.; Garcia-Nimo, L.; Cocho de Juan, J.A.; Moreno, J.C.
    Towards the pre-clinical diagnosis of hypothyroidism caused by iodotyrosine deiodinase (DEHAL1) defects (2014), Best Pract. Res. Clin. Endocrinol. Metab., 28, 151-159.
    View publication on PubMed

Application

EC Number Application Comment Organism
1.21.1.1 diagnostics improvement of pre-clinical detection of iodotyrosine deiodinase deficiency during the neonatal time Homo sapiens

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.21.1.1 gene DEHAL1, DNA and amino acid sequence determination and analysis, genotyping of healthy and iodotyrosine deiodinase deficiency samples Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.21.1.1 A220T naturally occuring mutation involved in iodotyrosine deiodinase Homo sapiens
1.21.1.1 I116T naturally occuring mutation involved in iodotyrosine deiodinase deficiency, the mutant shows highly reduced activity compared to te wild-type enzyme Homo sapiens
1.21.1.1 additional information mutations occuring in enzyme deficiency include homozygous one inframe-deletion of three base pairs (F105-I106L) and two missense (R101W, I116T). The mutations are located in close vicinity of each other within exon 2 of the gene encoding a putative FMN-binding site at the nitroreductase catalytic domain of the protein. All three mutations dramatically reduce the in vitro activity of the enzyme, one is also prematurely degraded Homo sapiens
1.21.1.1 R101W naturally occuring mutation involved in iodotyrosine deiodinase deficiency, the mutant shows highly reduced activity compared to te wild-type enzyme Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
1.21.1.1 L-tyrosine + 2 NADP+ + 2 iodide Homo sapiens via mono-iodotyrosine 3,5-diiodo-L-tyrosine + 2 NADPH + 2 H+
-
 r

Organism

EC Number Organism UniProt Comment Textmining
1.21.1.1 Homo sapiens Q6PHW0 gene DEHAL1
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
1.21.1.1 thyroid
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.21.1.1 L-tyrosine + 2 NADP+ + 2 iodide via mono-iodotyrosine Homo sapiens 3,5-diiodo-L-tyrosine + 2 NADPH + 2 H+
-
 r
1.21.1.1 L-tyrosine + 2 NADP+ + 2 iodide via mono-iodotyrosine, the reaction might involve an additional ferredoxin reductase Homo sapiens 3,5-diiodo-L-tyrosine + 2 NADPH + 2 H+
-
 r
1.21.1.1 additional information analytical detection method for iodotyrosine, overview Homo sapiens ?
-
 ?

Synonyms

EC Number Synonyms Comment Organism
1.21.1.1 Dehal1 protein
-
 Homo sapiens
1.21.1.1 IYD
-
 Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
1.21.1.1 Ferredoxin
-
 Homo sapiens
1.21.1.1 FMN dependent on Homo sapiens
1.21.1.1 additional information the cofactors form a redox electron transport chain, overview Homo sapiens
1.21.1.1 NADPH NADPH is a necessary donor of electrons for the reductive reaction Homo sapiens

General Information

EC Number General Information Comment Organism
1.21.1.1 malfunction loss-of-function mutations of the enzyme lead to the iodotyrosine deiodinase deficiency (ITDD), characterized by accumulation of mono- and diiodotyrosines in thyroid gland, plasma, and urine, hypothyroidism, compressive goiter and variable mental retardation, whose diagnostic hallmark is the elevation of iodotyrosines in serum and urine. Patients harboring DEHAL1 defects so far described all belong to consanguineous families, phenotype, overview. Lack of biochemical expression of the disease at the beginning of life Homo sapiens
1.21.1.1 additional information the human enzyme harbors a conserved nitroreductase domain Homo sapiens
1.21.1.1 physiological function the thyroidal enzyme deiodinates mono- and diiodotyrosines (MIT, DIT) and recycles iodine, a scarce element in the environment, for the efficient synthesis of thyroid hormone, function and proposed components of the iodotyrosine deiodinase system, overview Homo sapiens