IYD - iodotyrosine deiodinase Gene
Also Known as TDH4; IYD-1; DEHAL1; C6orf71
Species: Homo sapiens
About IYD
This gene has 9 transcripts (splice variants), 192 orthologues and is associated with 2 phenotypes. Restricted expression toward thyroid (RPKM 256.4).
Summary
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 in this gene cause congenital hypothyroidism due to dyshormonogenesis type 4, which is also referred to as deiodinase deficiency, or iodotyrosine dehalogenase deficiency, or thyroid hormonogenesis type 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
IYD Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001164694.2 | NP_001158166.1 | iodotyrosine deiodinase 1 isoform 1 |
| NM_001164695.2 | NP_001158167.1 | iodotyrosine deiodinase 1 isoform 3 |
| NM_001318495.2 | NP_001305424.1 | iodotyrosine deiodinase 1 isoform 4 |
| NM_203395.3 | NP_981932.1 | iodotyrosine deiodinase 1 isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables FMN binding |
IDA
IDA: Inferred from direct assay
|
25395621 | GOA |
| enables iodotyrosine deiodinase activity |
IDA
IDA: Inferred from direct assay
|
15289438 | GOA |
| enables iodotyrosine deiodinase activity |
IMP
IMP: Inferred from mutant phenotype
|
18434651 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
25416956 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in thyroid hormone metabolic process |
IDA
IDA: Inferred from direct assay
|
25395621 | GOA |
| involved in tyrosine metabolic process |
IDA
IDA: Inferred from direct assay
|
25395621 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasmic vesicle membrane |
IDA
IDA: Inferred from direct assay
|
15289438 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
15289438 | GOA |
IYD Protein Structure
Nitroreductase: Nitroreductase family (98 - 267)
- 0
- 100
- 200
- 289 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
iodotyrosine deiodinase 1 |
|
IYD Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
IYD | Q6PHW0 | TRIM69 | Homo sapiens | Q86WT6-2 | 25910212 | |
|
Intra
|
IYD | Q6PHW0 | TRIM69 | Homo sapiens | Q86WT6-2 | 25910212 | |
|
Intra
|
IYD | Q6PHW0 | TRIM69 | Homo sapiens | Q86WT6-2 | 25910212 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Thyroid Dyshormonogenesis 4 |
|
|
| Familial Thyroid Dyshormonogenesis |
|
|
| Hypothyroidism |
|
|
| Goiter |
|
|
| Congenital Hypothyroidism |
|
|
| Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate |
|
|
| Thyroid Malformation |
|
|
| Dyshormonogenic Goiter |
|
|
| Endemic Goiter |
|
|
| Cervical Neuroblastoma |
|
|
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
|
| Extracranial Neuroblastoma |
|
|
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
|
| Pendred Syndrome |
|
|
| Thyroid Gland Disease |
|
|
| Umbilical Hernia |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | IYD | VGNC | VGNC:30355 |
| Mus musculus | IYD | MGD | MGI:1917587 |
| Canis familiaris | IYD | VGNC | VGNC:42164 |
| Macaca mulatta | IYD | VGNC | VGNC:73635 |
| Rattus norvegicus | IYD | RGD | RGD:1309288 |
| Felis catus | IYD | VGNC | VGNC:62991 |
| Others | IYD | NCBI |