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MGP007094

UniProt Annotations

Entry Information
Gene Nameiodotyrosine deiodinase
Protein EntryIYD1_HUMAN
UniProt IDQ6PHW0
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=6; Name=1; IsoId=Q6PHW0-1; Sequence=Displayed; Name=3; Synonyms=E; IsoId=Q6PHW0-3; Sequence=VSP_017809, VSP_017810; Name=4; Synonyms=B; IsoId=Q6PHW0-4; Sequence=VSP_017805; Note=Ref.1 (AAP22073) sequence is in conflict in position: 265:C->R. {ECO:0000305}; Name=5; Synonyms=C; IsoId=Q6PHW0-5; Sequence=VSP_017806, VSP_017813; Name=6; Synonyms=D; IsoId=Q6PHW0-6; Sequence=VSP_017807, VSP_017812; Name=7; Synonyms=F; IsoId=Q6PHW0-7; Sequence=VSP_017802, VSP_017803, VSP_017809, VSP_017810;
Biophysicochemical PropertiesKinetic parameters: KM=2.67 uM for L-DIT {ECO:0000269|PubMed:15289438}; KM=1.35 uM for L-MIT {ECO:0000269|PubMed:15289438};
Catalytic ActivityL-tyrosine + 2 NADP(+) + 2 I(-) = 3,5-diiodo- L-tyrosine + 2 NADPH.
CofactorName=FMN; Xref=ChEBI:CHEBI:58210; Evidence={ECO:0000305};
DiseaseThyroid 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. {ECO:0000269|PubMed:18434651}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes 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. {ECO:0000269|PubMed:15289438}.
Sequence CautionSequence=AAY41467.1; Type=Erroneous translation; Evidence={ECO:0000305}; Sequence=BAC85255.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the nitroreductase family. {ECO:0000305}.
Subcellular LocationCell membrane {ECO:0000269|PubMed:15289438}; Single-pass membrane protein {ECO:0000269|PubMed:15289438}.
SubunitHomodimer. {ECO:0000250}.
Tissue SpecificityExpressed at a high level in thyroid gland and at lower level in kidney and trachea. {ECO:0000269|PubMed:15289438}.
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