Human Gene IYD (ENST00000392256.6) from GENCODE V44
Description: Homo sapiens iodotyrosine deiodinase (IYD), transcript variant 3, mRNA. (from RefSeq NM_001164695) RefSeq Summary (NM_001164695): This gene encodes an enzyme that catalyzes the oxidative NADPH-dependent deiodination of mono- and diiodotyrosine, which are the halogenated byproducts of thyroid hormone production. The N-terminus of the protein functions as a membrane anchor. Mutations in this gene cause congenital hypothyroidism due to dyshormonogenesis type 4, which is also referred to as deiodinase deficiency, or iodotyrosine dehalogenase deficiency, or thyroid hormonogenesis type 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]. Gencode Transcript: ENST00000392256.6 Gencode Gene: ENSG00000009765.15 Transcript (Including UTRs) Position: hg38 chr6:150,368,953-150,398,109 Size: 29,157 Total Exon Count: 6 Strand: + Coding Region Position: hg38 chr6:150,369,032-150,395,450 Size: 26,419 Coding Exon Count: 5
ID:IYD1_HUMAN DESCRIPTION: RecName: Full=Iodotyrosine dehalogenase 1; Short=IYD-1; EC=1.22.1.1; Flags: Precursor; FUNCTION: Catalyzes the oxidative NADPH-dependent deiodination of monoiodotyrosine (L-MIT) or diiodotyrosine (L-DIT). Acts during the hydrolysis of thyroglobulin to liberate iodide, which can then reenter the hormone-producing pathways. Acts more efficiently on monoiodotyrosine than on diiodotyrosine. CATALYTIC ACTIVITY: L-tyrosine + 2 NADP(+) + 2 I(-) = 3,5-diiodo- L-tyrosine + 2 NADPH. COFACTOR: FMN (Probable). BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=2.67 uM for L-DIT; KM=1.35 uM for L-MIT; SUBUNIT: Homodimer (By similarity). SUBCELLULAR LOCATION: Cell membrane; Single-pass membrane protein. TISSUE SPECIFICITY: Expressed at a high level in thyroid gland and at lower level in kidney and trachea. DISEASE: Defects in IYD are the cause of thyroid dyshormonogenesis 4 (TDH4) [MIM:274800]. A disorder due to thyroid dyshormonogenesis, causing severe hypothyroidism, goiter, excessive levels of iodotyrosine in serum and urine, and variable mental deficits derived from unrecognized and untreated hypothyroidism. SIMILARITY: Belongs to the nitroreductase family. SEQUENCE CAUTION: Sequence=AAY41467.1; Type=Erroneous translation; Sequence=BAC85255.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAI20537.1; Type=Erroneous gene model prediction;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q6PHW0
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
