• Gene id: 1735

Gene Summary

• Gene Symbol: DIO3   Gene   UCSC   Ensembl
• Aliases: 5DIII, D3, DIOIII, TXDI3
• Gene name: iodothyronine deiodinase 3
• Alternate names: thyroxine 5-deiodinase, deiodinase, iodothyronine type III, iodothyronine deiodinase, placental type, thyroxine deiodinase type III (selenoprotein), type 3 DI, type 3 iodothyronine selenodeiodinase, type-III 5' deiodinase,
• Gene location: 14q32.31 (101561350: 101563451)     Exons: 1     NC_000014.9
• Gene summary(Entrez): 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)
• OMIM: 126450

Protein Summary

• Protein general information: P55073  
  • Name: Thyroxine 5 deiodinase (EC 1.21.99.3) (5DIII) (DIOIII) (Type 3 DI) (Type III iodothyronine deiodinase)
  • Length: 304  
  • Mass: 33947
  • Tissue specificity: Expressed in placenta and several fetal tissues.
• Sequence:

  MPRQATSRLVVGEGEGSQGASGPAATMLRSLLLHSLRLCAQTASCLVLFPRFLGTAFMLWLLDFLCIRKHFLGRR
  RRGQPEPEVELNSEGEEVPPDDPPICVSDDNRLCTLASLKAVWHGQKLDFFKQAHEGGPAPNSEVVLPDGFQSQH
  ILDYAQGNRPLVLNFGSCTUPPFMARMSAFQRLVTKYQRDVDFLIIYIEEAHPSDGWVTTDSPYIIPQHRSLEDR
  VSAARVLQQGAPGCALVLDTMANSSSSAYGAYFERLYVIQSGTIMYQGGRGPDGYQVSELRTWLERYDEQLHGAR
  PRRV

• Structural information:
  • Interpro: IPR000643  IPR008261  IPR027252  IPR036249  
  • Prosite: PS01205
  • STRING: ENSP00000427336
• Other Databases: GeneCards:  DIO3  Malacards:  DIO3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033798	thyroxine 5-deiodinase activity	IDA	molecular function
GO:0004800	thyroxine 5'-deiodinase activity	IBA	molecular function
GO:0042403	thyroid hormone metabolic process	IBA	biological process
GO:0004800	thyroxine 5'-deiodinase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0042446	hormone biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0033798	thyroxine 5-deiodinase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0006590	thyroid hormone generation	TAS	biological process
GO:0004800	thyroxine 5'-deiodinase activity	TAS	molecular function
GO:0097474	retinal cone cell apoptotic process	IEA	biological process
GO:0046549	retinal cone cell development	IEA	biological process
GO:0042480	negative regulation of eye photoreceptor cell development	IEA	biological process
GO:0033798	thyroxine 5-deiodinase activity	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0042404	thyroid hormone catabolic process	IEA	biological process
GO:0040018	positive regulation of multicellular organism growth	IEA	biological process
GO:0004800	thyroxine 5'-deiodinase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0004800	thyroxine 5'-deiodinase activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04919	Thyroid hormone signaling pathway

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq