LOCUS NP_001353 304 aa linear PRI 13-JUN-2024
DEFINITION thyroxine 5-deiodinase [Homo sapiens].
ACCESSION NP_001353
VERSION NP_001353.4
DBSOURCE REFSEQ: accession NM_001362.4
KEYWORDS RefSeq; MANE Select.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 304)
AUTHORS Qi,Y., Meng,X., Li,J., He,A., Hao,J., Zhao,X., Zhao,R., Chen,R. and
Zhang,R.
TITLE Evaluating the link between DIO3-FA27 promoter methylation,
biochemical indices, and heart failure progression
JOURNAL Clin Epigenetics 16 (1), 57 (2024)
PUBMED 38659084
REMARK GeneRIF: Evaluating the link between DIO3-FA27 promoter
methylation, biochemical indices, and heart failure progression.
Publication Status: Online-Only
REFERENCE 2 (residues 1 to 304)
AUTHORS Smith,C.M., Catchpoole,D. and Hutvagner,G.
TITLE MiRNAs from the Dlk1-Dio3 locus and miR-224/452 cluster contribute
to glioblastoma tumor heterogeneity
JOURNAL Sci Rep 14 (1), 8570 (2024)
PUBMED 38609422
REMARK GeneRIF: MiRNAs from the Dlk1-Dio3 locus and miR-224/452 cluster
contribute to glioblastoma tumor heterogeneity.
Publication Status: Online-Only
REFERENCE 3 (residues 1 to 304)
AUTHORS Sanceau,J., Poupel,L., Joubel,C., Lagoutte,I., Caruso,S., Pinto,S.,
Desbois-Mouthon,C., Godard,C., Hamimi,A., Montmory,E., Dulary,C.,
Chantalat,S., Roehrig,A., Muret,K., Saint-Pierre,B., Deleuze,J.F.,
Mouillet-Richard,S., Forne,T., Grosset,C.F., Zucman-Rossi,J.,
Colnot,S. and Gougelet,A.
TITLE DLK1/DIO3 locus upregulation by a beta-catenin-dependent enhancer
drives cell proliferation and liver tumorigenesis
JOURNAL Mol Ther 32 (4), 1125-1143 (2024)
PUBMED 38311851
REMARK GeneRIF: DLK1/DIO3 locus upregulation by a beta-catenin-dependent
enhancer drives cell proliferation and liver tumorigenesis.
REFERENCE 4 (residues 1 to 304)
AUTHORS Liu,M., Yu,Z., Zhao,Z., Yang,F., Zhou,M., Wang,C., Tian,X.,
Zhang,B., Liang,G., Liu,X. and Shao,J.
TITLE MiR-24-3p/Dio3 axis is essential for BDE47 to induce local thyroid
hormone disorder and neurotoxicity
JOURNAL Toxicology 491, 153527 (2023)
PUBMED 37116683
REMARK GeneRIF: MiR-24-3p/Dio3 axis is essential for BDE47 to induce local
thyroid hormone disorder and neurotoxicity.
REFERENCE 5 (residues 1 to 304)
AUTHORS Sibilio,A., Ambrosio,R., Bonelli,C., De Stefano,M.A., Torre,V.,
Dentice,M. and Salvatore,D.
TITLE Deiodination in cancer growth: the role of type III deiodinase
JOURNAL Minerva Endocrinol 37 (4), 315-327 (2012)
PUBMED 23235188
REMARK GeneRIF: D3 expression is re-activated in various types of human
cancers. It may play a role in carcinogenesis and neoplastic cell
proliferation. Review.
Review article
REFERENCE 6 (residues 1 to 304)
AUTHORS Hernandez,A.
TITLE Structure and function of the type 3 deiodinase gene
JOURNAL Thyroid 15 (8), 865-874 (2005)
PUBMED 16131329
REMARK GeneRIF: structure and function of the type 3 deiodinase gene
[review]
Review article
REFERENCE 7 (residues 1 to 304)
AUTHORS Baqui,M., Botero,D., Gereben,B., Curcio,C., Harney,J.W.,
Salvatore,D., Sorimachi,K., Larsen,P.R. and Bianco,A.C.
TITLE Human type 3 iodothyronine selenodeiodinase is located in the
plasma membrane and undergoes rapid internalization to endosomes
JOURNAL J Biol Chem 278 (2), 1206-1211 (2003)
PUBMED 12419801
REMARK GeneRIF: study demonstrates that D3 is located in the plasma
membrane with most of its molecule in the extracellular space,
allowing access to inactivate both the hormone T3 and prohormone T4
REFERENCE 8 (residues 1 to 304)
AUTHORS Hernandez,A., Park,J.P., Lyon,G.J., Mohandas,T.K. and St
Germain,D.L.
TITLE Localization of the type 3 iodothyronine deiodinase (DIO3) gene to
human chromosome 14q32 and mouse chromosome 12F1
JOURNAL Genomics 53 (1), 119-121 (1998)
PUBMED 9787088
REFERENCE 9 (residues 1 to 304)
AUTHORS Salvatore,D., Low,S.C., Berry,M., Maia,A.L., Harney,J.W.,
Croteau,W., St Germain,D.L. and Larsen,P.R.
TITLE Type 3 lodothyronine deiodinase: cloning, in vitro expression, and
functional analysis of the placental selenoenzyme
JOURNAL J Clin Invest 96 (5), 2421-2430 (1995)
PUBMED 7593630
REFERENCE 10 (residues 1 to 304)
AUTHORS Visser,T.J. and Schoenmakers,C.H.
TITLE Characteristics of type III iodothyronine deiodinase
JOURNAL Acta Med Austriaca 19 Suppl 1, 18-21 (1992)
PUBMED 1519445
REMARK Review article
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AL049836.3.
On Aug 14, 2009 this sequence version replaced NP_001353.3.
Summary: The protein encoded by this intronless gene belongs to the
iodothyronine deiodinase family. It catalyzes the inactivation of
thyroid hormone by inner ring deiodination of the prohormone
thyroxine (T4) and the bioactive hormone 3,3',5-triiodothyronine
(T3) to inactive metabolites, 3,3',5'-triiodothyronine (RT3) and
3,3'-diiodothyronine (T2), respectively. This enzyme is highly
expressed in pregnant uterus, placenta, fetal and neonatal tissues,
and thought to prevent premature exposure of developing fetal
tissues to adult levels of thyroid hormones. It regulates
circulating fetal thyroid hormone concentrations, and thus plays a
critical role in mammalian development. Knockout mice lacking this
gene exhibit abnormalities related to development and reproduction,
and increased activity of this enzyme in infants with hemangiomas
causes severe hypothyroidism. This protein is a selenoprotein,
containing the rare selenocysteine (Sec) amino acid 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. [provided by
RefSeq, May 2016].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript is intronless :: BC017717.1, AK292310.1 [ECO:0000345]
##Evidence-Data-END##
##RefSeq-Attributes-START##
MANE Ensembl match :: ENST00000510508.5/
ENSP00000427336.3
protein contains selenocysteine :: PMID: 7593630
RefSeq Select criteria :: based on single protein-coding
transcript
##RefSeq-Attributes-END##
FEATURES Location/Qualifiers
source 1..304
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="14"
/map="14q32.31"
Protein 1..304
/product="thyroxine 5-deiodinase"
/EC_number="1.21.99.3"
/note="type 3 iodothyronine selenodeiodinase; type-III 5'
deiodinase; iodothyronine deiodinase, placental type;
thyroxine deiodinase type III (selenoprotein); type 3 DI;
deiodinase, iodothyronine type III; selenoprotein DIO3"
/calculated_mol_wt=33816
Region 39..293
/region_name="T4_deiodinase"
/note="Iodothyronine deiodinase; pfam00837"
/db_xref="CDD:279210"
Site 45..67
/site_type="transmembrane region"
/note="propagated from UniProtKB/Swiss-Prot (P55073.4)"
Site 170
/site_type="other"
/note="Selenocysteine"
CDS 1..304
/gene="DIO3"
/gene_synonym="5DIII; D3; DIOIII; TXDI3"
/coded_by="NM_001362.4:3..917"
/note="UGA stop codon recoded as selenocysteine"
/db_xref="CCDS:CCDS41992.2"
/db_xref="GeneID:1735"
/db_xref="HGNC:HGNC:2885"
/db_xref="MIM:601038"
ORIGIN
1 mprqatsrlv vgegegsqga sgpaatmlrs lllhslrlca qtasclvlfp rflgtafmlw
61 lldflcirkh flgrrrrgqp epevelnseg eevppddppi cvsddnrlct laslkavwhg
121 qkldffkqah eggpapnsev vlpdgfqsqh ildyaqgnrp lvlnfgsctu ppfmarmsaf
181 qrlvtkyqrd vdfliiyiee ahpsdgwvtt dspyiipqhr sledrvsaar vlqqgapgca
241 lvldtmanss ssaygayfer lyviqsgtim yqggrgpdgy qvselrtwle rydeqlhgar
301 prrv
//