DIO1
entrez
1733
canonical
uniprot
P49895
canonical
ensembl
ENSG00000211452
resolver
ensp
ENSP00000323198
resolver
ensp
ENSP00000354643
resolver
ensp
ENSP00000373528
resolver
ensp
ENSP00000434758
resolver
ensp
ENSP00000435725
resolver
enst
ENST00000322679
resolver
enst
ENST00000361921
resolver
enst
ENST00000525202
resolver
genesymbol
DIO1
resolver
genesymbol_syn
ITDI1
resolver
genesymbol_syn
TXDI1
resolver
hgnc
HGNC:2883
resolver
uniprot
A8K415
resolver
uniprot
Q1RN02
resolver
uniprot
Q3KNP8
resolver
uniprot
Q6Q4C1
resolver
uniprot
Q6Q4C2
resolver
uniprot
Q6Q4C3
resolver
uniprot
Q6Q4C4
resolver
uniprot
Q6Q4C5
resolver
uniprot
Q6Q4C6
resolver
uniprot
Q6Q4C7
resolver
uniprot
Q6Q4C9
resolver
uniprot
Q8WWC6
resolver
uniprot_entry
A8K415_HUMAN
resolver
uniprot_entry
IOD1_HUMAN
resolver
uniprot_sec
Q1RN02
resolver
uniprot_sec
Q3KNP8
resolver
uniprot_sec
Q6Q4C1
resolver
uniprot_sec
Q6Q4C2
resolver
uniprot_sec
Q6Q4C3
resolver
uniprot_sec
Q6Q4C4
resolver
uniprot_sec
Q6Q4C5
resolver
uniprot_sec
Q6Q4C6
resolver
uniprot_sec
Q6Q4C7
resolver
uniprot_sec
Q6Q4C9
resolver
uniprot_sec
Q8WWC6
resolver
activity_regulation
ACTIVITY REGULATION: Deiodination of substrates 3,3',5'-triiodothyronine, 3,3',5'-triiodothyronamine and 3',5'- diiodothyronamine are inhibited by 6n-propyl-2-thiouracil (PTU). {ECO:0000269|PubMed:18339710}.
uniprot
proteins
amino_acid_sequence
MGLPQPGLWLKRLWVLLEVAVHVVVGKVLLILFPDRVKRNILAMGEKTGMTRNPHFSHDNWIPTFFSTQYFWFVLKVRWQRLEDTTELGGLAPNCPVVRLSGQRCNIWEFMQGNRPLVLNFGSCTUPSFMFKFDQFKRLIEDFSSIADFLVIYIEEAHASDGWAFKNNMDIRNHQNLQDRLQAAHLLLARSPQCPVVVDTMQNQSSQLYAALPERLYIIQEGRILYKGKSGPWNYNPEEVRAVLEKLHS
uniprot
proteins
disease_involvement
DISEASE: Thyroid hormone metabolism, abnormal, 2 (THMA2) [MIM:619855]: An autosomal dominant disorder characterized by slightly increased thyroid-stimulating hormone levels, and elevated serum reverse triiodothyronine (rT3) levels and rT3/T3 ratios. {ECO:0000269|PubMed:32718224}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.21.99.3
uniprot
proteins
ec_number
1.21.99.4
uniprot
proteins
function
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'-triiodothyronine (T3), 3,3',5'-triiodothyronine (rT3) to 3,3'-diiodothyronine (3,3'-T2) and 3',5'-diiodothyronine (3',5'-T2) to 3'-monoiodothyronine (3'-T1) via outer-ring deiodination (ORD) (PubMed:32718224, PubMed:18821722, PubMed:12586771, PubMed:18339710). Catalyzes the deiodination of T4 to 3,3',5'-triiodothyronine (rT3) via inner-ring deiodination (IRD) (PubMed:32718224). Catalyzes the deiodination of T3 to 3,3'-T2, 3,5-diiodothyronine (3,5-T2) to 3- monoiodothyronine (3-T1) and 3,3'-T2 to 3-T1 via IRD (By similarity). Catalyzes the phenolic ring deiodinations of 3,3',5'-triiodothyronamine and 3',5'-diiodothyronamine (PubMed:18339710). Catalyzes the phenolic ring deiodination of 3,3'-diiodothyronamine and tyrosyl ring deiodinations of 3,5,3'-triiodothyronamine and 3,5-diiodothyronamine (By similarity). Catalyzes the deiodination of L-thyroxine sulfate and 3,3',5-triiodo-L-thyronine sulfate via IRD and of 3,3',5'-triiodo-L-thyronine sulfate via ORD (By similarity). {ECO:0000250|UniProtKB:P24389, ECO:0000250|UniProtKB:Q2QEI3, ECO:0000250|UniProtKB:Q61153, ECO:0000269|PubMed:12586771, ECO:0000269|PubMed:18339710, ECO:0000269|PubMed:18821722, ECO:0000269|PubMed:32718224}.
uniprot
proteins
mass_dalton
28924
uniprot
proteins
protein_family
Iodothyronine deiodinase family
uniprot
proteins
pubmed
12586771
uniprot
proteins
pubmed
1400883
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18339710
uniprot
proteins
pubmed
18821722
uniprot
proteins
pubmed
32718224
uniprot
proteins
pubmed
7651427
uniprot
proteins
sequence_length
249
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P24389}; Single-pass type III membrane protein {ECO:0000250|UniProtKB:P24389}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:P24389}; Single-pass type III membrane protein {ECO:0000250|UniProtKB:P24389}. Basolateral cell membrane {ECO:0000250|UniProtKB:P24389}; Single-pass type III membrane protein {ECO:0000250|UniProtKB:P24389}.
uniprot
proteins
transmembrane_region
TRANSMEM 13..33; /note="Helical; Signal-anchor for type III membrane protein"; /evidence="ECO:0000255
uniprot
proteins