2. Gene
  3. ATOX1 - antioxidant 1 copper chaperone Gene

ATOX1 - antioxidant 1 copper chaperone Gene

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

中文名称：抗氧化因子 1 铜伴侣

种属: Homo sapiens

同用名: ATX1; HAH1

基因 ID: 475 | 基因类型: protein coding

关于 ATOX1

Cytogenetic location: 5q33.1 Genomic coordinates (GRCh38): 5:151,742,822-151,758,631 (from NCBI)

This gene has 7 transcripts (splice variants) and 81 orthologues. Ubiquitous expression in liver (RPKM 54.4), kidney (RPKM 49.1) and 25 other tissues.

功能概要

该基因编码一个铜伴侣蛋白，它通过将胞质铜结合并转运到反式高尔基体网络中的 ATP 酶蛋白，以便随后掺入血浆铜蓝蛋白，从而在铜稳态中发挥作用。这种蛋白质还可以作为抗超氧化物和过氧化氢的抗氧化剂，因此可能在癌症发生中发挥重要作用。由于其细胞遗传学位置，该基因代表了 5q 综合征的候选基因。[RefSeq 提供，2008 年 7 月]

This gene encodes a copper chaperone that plays a role in copper homeostasis by binding and transporting cytosolic copper to ATPase proteins in the trans-Golgi network for later incorporation to the ceruloplasmin. This protein also functions as an antioxidant against superoxide and hydrogen peroxide, and therefore, may play a significant role in Cancer carcinogenesis. Because of its cytogenetic location, this gene represents a candidate gene for 5q-syndrome. [provided by RefSeq, Jul 2008]

ATOX1 基因产物(1)

mRNA Protein Name
NM_004045.4 NP_004036.1 copper transport protein ATOX1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables copper chaperone activity IDA
IDA: 通过直接分析推断
12029094 GOA
enables copper ion binding IDA
IDA: 通过直接分析推断
12029094 GOA
enables copper-dependent protein binding IDA
IDA: 通过直接分析推断
31283225 GOA
enables copper-dependent protein binding IPI
IPI: 通过物理相互作用推断
10497213 GOA
enables cuprous ion binding IDA
IDA: 通过直接分析推断
31283225 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12968035 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

ATOX1 蛋白结构

HMA

HMA: Heavy-metal-associated domain (6 - 60)

  • 0
  • 68 a.a.
蛋白主名 其他名称

copper transport protein ATOX1

ATX1 antioxidant protein 1 homolog

重组 ATOX1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75585 ATOX1 Protein, Human (His) O00244 (M1-E68) ≥95%

关联疾病

疾病名称 别名
Wilson Disease

Hepatolenticular Degeneration

WD

Wilson'S Disease

WND

Westphal-Strumpell Syndrome

Copper Storage Disease

Cerebral Pseudosclerosis

Westphal Pseudosclerosis

Hepatolenticular Degeneration Syndrome

Copper Retention

Hepatocerebral Degeneration

Kinnier-Wilson Disease

Neurohepatic Degeneration

Progressive Hepatolenticular Degeneration

Lenticular Degenerative Disease

Wilson'S Syndrome

Lenticular Syndrome
Menkes Disease

Copper Transport Disease

Menkes Syndrome

MNK

Kinky Hair Disease

Steely Hair Disease

Menkes Kinky-Hair Syndrome

Mk

Steely Hair Syndrome

Menkea Syndrome

Md

Menkes Kinky Hair Syndrome

Hypocupremia, Congenital

Kinky Hair Syndrome

X-Linked Copper Deficiency

Menkes Kinky Hair Disease
Occipital Horn Syndrome

OHS

Eds Ix

Cutis Laxa X-Linked

Cutis Laxa, X-Linked

Cutis Laxa, X-Linked, Formerly

Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly

Eds Ix, Formerly

Eds9, Formerly

Ehlers-Danlos Syndrome Type 9

Ehlers-Danlos Syndrome Type Ix

X-Linked Cutis Laxa

Ehlers-Danlos Syndrome, Occipital Horn Type

Eds9

Ehlers-Danlos Syndrome Occipital Horn Type
Spinal Muscular Atrophy, Distal, X-Linked 3

SMAX3

Dsmax

X-Linked Distal Spinal Muscular Atrophy Type 3

X-Linked Distal Spinal Muscular Atrophy 3

Atp7a-Related Distal Motor Neuropathy

X-Linked Dhmn3

X-Linked Distal Hereditary Motor Neuropathy Type 3

X-Linked Dsma3

Spinal Muscular Atrophy, Distal, X-Linked Recessive

X-Linked Recessive Distal Spinal Muscular Atrophy

Distal Spinal Muscular Atrophy, X-Linked, 3

DSMAX3

Spinal Muscular Atrophy Distal X-Linked Recessive

Atrophy, Muscular, Spinal, Distal, X-Linked, Type 3
Metal Metabolism Disorder

Metal Metabolism, Inborn Errors

Inborn Metal Metabolism Disorder
Aceruloplasminemia

Cerebellar Ataxia

Hypoceruloplasminemia

Hemosiderosis, Systemic, Due To Aceruloplasminemia

Familial Apoceruloplasmin Deficiency

Hereditary Ceruloplasmin Deficiency

Deficiency Of Ferroxidase

Hypoceruloplasminemia, Hereditary

Ceruloplasmin Deficiency

Systemic Hemosiderosis Due To Aceruloplasminemia

ACERULOP
Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-107636 DC_AC50 Inducer 99.97% 否
HY-147373 DA-PROTAC / 否
HY-RS01170 ATOX1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta ATOX1 VGNC VGNC:110484
Rattus norvegicus ATOX1 RGD RGD:621684
Bos taurus ATOX1 VGNC VGNC:26273
Canis familiaris ATOX1 VGNC VGNC:38237
Mus musculus ATOX1 MGD MGI:1333855
Felis catus ATOX1 VGNC VGNC:82457
Others ATOX1 NCBI
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