• Gene id: 389434

Gene Summary

• Gene Symbol: IYD   Gene   UCSC   Ensembl
• Aliases: C6orf71, DEHAL1, IYD-1, TDH4
• Gene name: iodotyrosine deiodinase
• Alternate names: iodotyrosine deiodinase 1, iodotyrosine dehalogenase 1,
• Gene location: 6q25.1 (150368853: 150405968)     Exons: 7     NC_000006.12
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: Q6PHW0  
  • Name: Iodotyrosine deiodinase 1 (IYD 1) (EC 1.21.1.1) (Iodotyrosine dehalogenase 1)
  • Length: 289  
  • Mass: 33360
  • Tissue specificity: Expressed at a high level in thyroid gland (at protein level). Expressed at a high level in thyroid gland and at lower level in kidney and trachea. {ECO
• Sequence:

  MYFLTPILVAILCILVVWIFKNADRSMEKKKGEPRTRAEARPWVDEDLKDSSDLHQAEEDADEWQESEENVEHIP
  FSHNHYPEKEMVKRSQEFYELLNKRRSVRFISNEQVPMEVIDNVIRTAGTAPSGAHTEPWTFVVVKDPDVKHKIR
  KIIEEEEEINYMKRMGHRWVTDLKKLRTNWIKEYLDTAPILILIFKQVHGFAANGKKKVHYYNEISVSIACGILL
  AALQNAGLVTVTTTPLNCGPRLRVLLGRPAHEKLLMLLPVGYPSKEATVPDLKRKPLDQIMVTV

• Structural information:
  • Interpro: IPR029479  IPR000415  
  • PDB: 4TTB 4TTC 5YAK
  • PDBsum: 4TTB 4TTC 5YAK
  • STRING: ENSP00000229447
• Other Databases: GeneCards:  IYD  Malacards:  IYD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004447	iodide peroxidase activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0006570	tyrosine metabolic process	IBA	biological process
GO:0016491	oxidoreductase activity	IBA	molecular function
GO:0042403	thyroid hormone metabolic process	IBA	biological process
GO:0030659	cytoplasmic vesicle membrane	IDA	cellular component
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0010181	FMN binding	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0016491	oxidoreductase activity	IDA	molecular function
GO:0042403	thyroid hormone metabolic process	IDA	biological process
GO:0006570	tyrosine metabolic process	IDA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006590	thyroid hormone generation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004447	iodide peroxidase activity	IEA	molecular function
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0098869	cellular oxidant detoxification	IEA	biological process
GO:0098869	cellular oxidant detoxification	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04918	Thyroid hormone synthesis

Diseases

Associated diseases	References
Thyroid dyshormonogenesis	KEGG:H00251
Thyroid dyshormonogenesis	KEGG:H00251
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray