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

ATOX1 - antioxidant 1 copper chaperone Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ATX1; HAH1

Gene ID: 475 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA Protein Name
NM_004045.4 NP_004036.1 copper transport protein ATOX1
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables copper chaperone activity IDA
IDA: Inferred from direct assay
12029094 GOA
enables copper ion binding IDA
IDA: Inferred from direct assay
12029094 GOA
enables copper-dependent protein binding IDA
IDA: Inferred from direct assay
31283225 GOA
enables copper-dependent protein binding IPI
IPI: Inferred from physical interaction
10497213 GOA
enables cuprous ion binding IDA
IDA: Inferred from direct assay
31283225 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12968035 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

ATOX1 Protein Structure

HMA

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

  • 0
  • 68 a.a.
Protein Preferred Names Protein Names

copper transport protein ATOX1

ATX1 antioxidant protein 1 homolog

ATOX1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
ATOX1 O00244 GGPS1 Homo sapiens O95749
Validated Y2H
25416956
Intra
ATOX1 O00244 GGPS1 Homo sapiens O95749
Y2H Array
25416956
Intra
ATOX1 O00244 ATP7B Homo sapiens P35670
Pull Down
12968035
Intra
ATOX1 O00244 NECAB1 Homo sapiens Q8N987
Validated Y2H
32296183
Intra
ATOX1 O00244 NECAB1 Homo sapiens Q8N987
Y2H Array
32296183
Intra
ATOX1 O00244 NECAB1 Homo sapiens Q8N987
Y2H Prey Pooling
32296183
Intra
ATOX1 O00244 COMP Homo sapiens P49747
Y2H Prey Pooling
32296183
Intra
ATOX1 O00244 COMP Homo sapiens P49747
Validated Y2H
32296183
Intra
ATOX1 O00244 COMP Homo sapiens P49747
Y2H Array
32296183
Intra
ATOX1 O00244 FAM118A Homo sapiens Q9NWS6
Y2H Prey Pooling
32296183
Intra
ATOX1 O00244 FAM118A Homo sapiens Q9NWS6
Validated Y2H
25416956
Intra
ATOX1 O00244 FAM118A Homo sapiens Q9NWS6
Validated Y2H
32296183
Intra
ATOX1 O00244 FAM118A Homo sapiens Q9NWS6
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ATOX1 Proteins

Cat. No. Product Name Accession Purity
HY-P75585 ATOX1 Protein, Human (His) O00244 (M1-E68) ≥95%

Related Diseases

Diseases Alias
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
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (3)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-107636 DC_AC50 Inducer 99.97% Unkown
HY-147373 DA-PROTAC / Unkown
HY-RS01170 ATOX1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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