1. Gene
  2. DUOX1 - dual oxidase 1 Gene

DUOX1 - dual oxidase 1 Gene

中文名称:双氧化酶 1

种属: Homo sapiens

同用名: LNOX1; THOX1; NOXEF1

基因 ID: 53905 | 基因类型: protein coding

关于 DUOX1

Cytogenetic location: 15q21.1 Genomic coordinates (GRCh38): 15:45,129,994-45,165,574 (from NCBI)

This gene has 13 transcripts (splice variants), 94 orthologues and 6 paralogues. Biased expression in skin (RPKM 27.3), thyroid (RPKM 26.8) and 8 other tissues.

功能概要

该基因编码的蛋白质是一种糖蛋白,是 NADPH 氧化酶家族的成员。甲状腺激素的合成由位于甲状腺滤泡细胞顶膜的蛋白质复合物催化。该复合物包含碘化物转运蛋白、甲状腺过氧化物酶和过氧化物生成系统,该系统包括由该基因和类似的 DUOX2 基因编码的蛋白质。这种蛋白质被称为双氧化酶,因为它同时具有过氧化物酶同源结构域和 gp91phox 结构域。这种蛋白质产生过氧化氢,从而在甲状腺过氧化物酶、乳过氧化物酶的活性和粘膜表面的乳过氧化物酶介导的抗菌防御中发挥作用。已针对该基因描述了编码相同蛋白质的两个可变剪接转录物变体。[RefSeq 提供,2012 年 7 月]

The protein encoded by this gene is a glycoprotein and a member of the NADPH Oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes proteins encoded by this gene and the similar DUOX2 gene. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. This protein generates hydrogen peroxide and thereby plays a role in the activity of thyroid peroxidase, lactoperoxidase, and in lactoperoxidase-mediated antimicrobial defense at mucosal surfaces. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2012]

DUOX1 基因产物(2)

mRNA Protein Name
NM_017434.5 NP_059130.2 dual oxidase 1 precursor
NM_175940.3 NP_787954.1 dual oxidase 1 precursor
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 protein binding IPI
IPI: 通过物理相互作用推断
19339556 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cuticle development IMP
IMP: 通过突变表型推断
11514595 GOA
involved in cytokine-mediated signaling pathway IDA
IDA: 通过直接分析推断
16111680 GOA
involved in hydrogen peroxide biosynthetic process IGI
IGI: 通过遗传相互作用推断
19339556 GOA
involved in positive regulation of cell motility IGI
IGI: 通过遗传相互作用推断
19339556 GOA
involved in positive regulation of wound healing IGI
IGI: 通过遗传相互作用推断
19339556 GOA
involved in response to cAMP IDA
IDA: 通过直接分析推断
15062544 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell leading edge IGI
IGI: 通过遗传相互作用推断
19339556 GOA
located in cell surface IGI
IGI: 通过遗传相互作用推断
22814254 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
19339556 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
19339556 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

DUOX1 蛋白结构

An_peroxidase

An_peroxidase: Animal haem peroxidase (30 - 557)

EF-hand_7

EF-hand_7: EF-hand domain pair (822 - 879)

Ferric_reduct

Ferric_reduct: Ferric reductase like transmembrane component (1087 - 1236)

FAD_binding_8

FAD_binding_8: FAD-binding domain (1274 - 1372)

NAD_binding_6

NAD_binding_6: Ferric reductase NAD binding domain (1380 - 1534)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1551 a.a.
蛋白主名 其他名称

dual oxidase 1

NADPH thyroid oxidase 1

DUOX1 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
种属内
DUOX1 Q9NRD9 DUOXA1 Homo sapiens Q1HG43
GMS
33420071
种属内
DUOX1 Q9NRD9 DUOXA1 Homo sapiens Q1HG43 33420071
种属内
DUOX1 Q9NRD9 DUOXA1 Homo sapiens Q1HG43 33420071
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
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

Granulomatous Disease, Chronic, Autosomal Recessive, 4

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative

Cyba Deficiency

CGD4

Cgd Due To Deficiency Of The Alpha Subunit Of Cytochrome B

Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Negative

Cgd, Autosomal Recessive Cytochrome B-Negative

Chronic Granulomatous Disease 4, Autosomal Recessive

Autosomal Recessive Chronic Granulomatous Disease 4

Autosomal Recessive Cytochrome B-Negative Cgd

Chronic Granulomatous Disease Due To Deficiency Of Cyba

Cgd Due To Deficiency Of Alpha Subunit Of Cytochrome B

Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Negative

Granulomatous Disease, Chronic, Cytochrome-B-Negative, Autosomal Recessive

Phagocyte Bactericidal Dysfunction

Phagocytic Dysfunction

Hypothyroidism

Thyroid Diseases

Thyroid Disease

Thyroid Deficiency

Thyroid Insufficiency

Dysfunction Thyroid

Thyroid Dysfunction

Granulomatous Disease, Chronic, X-Linked

CGDX

Chronic Granulomatous Disease, X-Linked

X-Linked Chronic Granulomatous Disease

Cgd

Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked

Cdgx

X-Linked Chronic Cytochrome B-Negative Granulomatous Disease

Chronic Granulomatous Disease Cytochrome B-Negative X-Linked

Chronic Granulomatous Disease Cytochrome B-Positive X-Linked

Granulomatous Disease, Chronic, X-Linked, Variant

Chronic Granulomatous Disease

Cgd

Granulomatous Disease, Chronic

Autosomal Recessive Chronic Granulomatous Disease

X-Linked Chronic Granulomatous Disease

Bridges-Good Syndrome

Congenital Dysphagocytosis

Quie Syndrome

Chronic Septic Granulomatosis

Chronic Granulomatous Disorder

Granulomatous Disease Chronic

Granulomatous Disease, Chronic, X-Linked

Lung Disease

Lung Diseases

Disorder Of Lung

Abnormality Of The Lung

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus DUOX1 VGNC VGNC:28241
Canis familiaris DUOX1 VGNC VGNC:40120
Rattus norvegicus DUOX1 RGD RGD:628760
Macaca mulatta DUOX1 VGNC VGNC:72009
Mus musculus DUOX1 MGD MGI:2139422
Felis catus DUOX1 VGNC VGNC:61653