2. Gene
  3. IYD - iodotyrosine deiodinase Gene

IYD - iodotyrosine deiodinase Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：碘酪氨酸脱碘酶

种属: Homo sapiens

同用名: TDH4; IYD-1; DEHAL1; C6orf71

基因 ID: 389434 | 基因类型: protein coding

关于 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).

功能概要

该基因编码一种酶，该酶催化单碘酪氨酸和二碘酪氨酸的氧化 NADPH 依赖性脱碘，它们是甲状腺激素产生的卤化副产物。蛋白质的 N 端起膜锚的作用。由于 4 型激素生成障碍，该基因的突变会导致先天性甲状腺功能减退症，也称为脱碘酶缺乏症、碘酪氨酸脱卤酶缺乏症或 4 型甲状腺激素生成障碍。选择性剪接导致多种转录本变异。[RefSeq 提供，2009 年 9 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables FMN binding IDA
IDA: 通过直接分析推断
25395621 GOA
enables iodotyrosine deiodinase activity IDA
IDA: 通过直接分析推断
15289438 GOA
enables iodotyrosine deiodinase activity IMP
IMP: 通过突变表型推断
18434651 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in thyroid hormone metabolic process IDA
IDA: 通过直接分析推断
25395621 GOA
involved in tyrosine metabolic process IDA
IDA: 通过直接分析推断
25395621 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasmic vesicle membrane IDA
IDA: 通过直接分析推断
15289438 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
15289438 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

IYD 蛋白结构

Nitroreductase

Nitroreductase: Nitroreductase family (98 - 267)

  • 0
  • 100
  • 200
  • 289 a.a.
蛋白主名 其他名称

iodotyrosine deiodinase 1

iodotyrosine dehalogenase 1

IYD 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra IYD Q6PHW0 TRIM69 Homo sapiens Q86WT6-2
Validated Y2H
25910212
Intra IYD Q6PHW0 TRIM69 Homo sapiens Q86WT6-2
Y2H Array
25910212
Intra IYD Q6PHW0 TRIM69 Homo sapiens Q86WT6-2
Y2H Bait-Prey Pool
25910212
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS07003 IYD Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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