IYD - iodotyrosine deiodinase Gene

Also Known as TDH4; IYD-1; DEHAL1; C6orf71

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 389434

About IYD

Cytogenetic location: 6q25.1 Genomic coordinates (GRCh38): 6:150,369,012-150,405,969 (from NCBI)

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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

IYD Protein Structure

Nitroreductase

Nitroreductase: Nitroreductase family (98 - 267)

  • 0
  • 100
  • 200
  • 289 a.a.
Protein Preferred Names Protein Names

iodotyrosine deiodinase 1

  • iodotyrosine dehalogenase 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
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Thyroid Dyshormonogenesis 4
  • Deiodinase Deficiency

  • TDH4

  • Iodotyrosine Dehalogenase Deficiency

  • Thyroid Hormonogenesis, Genetic Defect In, 4

  • Hypothyroidism, Congenital, Due To Dyshormonogenesis, 4

  • Genetic Defect In Thyroid Hormonogenesis 4

  • Chdh4

  • Congenital Hypothyroidism Due To Dyshormonogenesis Type 4

  • Genetic Defect In Thyroid Hormonogenesis Type 4

Familial Thyroid Dyshormonogenesis
  • Thyroid Dyshormonogenesis

  • Familial Dyshormonogenetic Goiter

Hypothyroidism
  • Thyroid Diseases

  • Thyroid Disease

  • Thyroid Deficiency

  • Thyroid Insufficiency

  • Dysfunction Thyroid

  • Thyroid Dysfunction

Goiter
  • Goitre

Congenital Hypothyroidism
  • Cretinism

  • Neonatal Hypothyroidism

  • Ch

  • Cht

  • Congenital Myxedema

  • Myxedema, Congenital

  • Endemic Cretinism

  • Congenital Iodine-Deficiency Syndrome

  • Fetal Iodine Deficiency Syndrome

  • Congenital Iodine-Deficiency Hypothyroidism Nos

Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate
  • Bamforth-Lazarus Syndrome

  • Bamforth Syndrome

  • Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate

  • Hypothyroidism Cleft Palate Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate

  • Athyroidal Hypothyroidism-Spiky Hair-Cleft Palate Syndrome

  • Hypothyroidism-Cleft Palate Syndrome

  • BLS

  • Athyroidal Hypothyroidism With Spiky Hair And Cleft Palate

Thyroid Malformation
Dyshormonogenic Goiter
  • Dyshormonogenic Goitre

Endemic Goiter
  • Iodine-Deficiency-Related Endemic Goitre

  • Simple Goitre

  • Goiter, Endemic

  • Euthyroid Goiter

Cervical Neuroblastoma
Hypothyroidism, Congenital, Nongoitrous, 1
  • Tsh Resistance

  • CHNG1

  • Hypothyroidism Due To Tsh Receptor Mutations

  • Thyrotropin Resistance

  • Thyroid-Stimulating Hormone

  • Rtsh

  • Hypothyroidism Due To Unresponsiveness To Thyrotropin

  • Congenital Nongoitrous Hypothyroidism 1

  • Thyroid-Stimulating Hormone, Resistance To

  • Hypothyroidism, Nonautoimmune

  • Hypothyroidism, Congenital, Due To Tsh Resistance

  • Hypothyroidism, Congenital, Non-Goitrous, 1

  • Congenital Hypothyroidism Due To Tsh Resistance

  • Non-Autoimmune Hypothyroidism

  • Thyroid-Stimulating Hormone Resistance

  • Hypothyroidism, Congenital, Nongoitrous, Type 1

  • Hypothyroidism, Congenital, Nongoitrous, 3

  • Thyroid Hormone Resistance Syndrome

Extracranial Neuroblastoma
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
  • Neonatal Diabetes Mellitus With Congenital Hypothyroidism

  • Ndh Syndrome

  • NDH

  • Neonatal Diabetes-Congenital Hypothyroidism-Congenital Glaucoma-Hepatic Fibrosis-Polycystic Kidneys Syndrome

Pendred Syndrome
  • Goiter-Deafness Syndrome

  • Deafness With Goiter

  • PDS

  • Thyroid Dyshormonogenesis 2b

  • Tdh2b

  • Autosomal Recessive Sensorineural Hearing Impairment And Goiter

  • Pendred'S Syndrome

  • Thyroid Hormonogenesis, Genetic Defect In, 2b

  • Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b

  • Congenital Hypothyroidism Due To Dyshormonogenesis 2b

  • Genetic Defect In Thyroid Hormonogenesis 2b

  • Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter

  • Goiter-Hearing Loss Syndrome

  • Goitre-Deafness Syndrome

  • Goitre Deafness

Thyroid Gland Disease
  • Abnormality Of The Thyroid Gland

  • Thyroid Diseases

Umbilical Hernia
  • Hernia, Umbilical

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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