ATOX1 - antioxidant 1 copper chaperone Gene

Also Known as ATX1; HAH1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 475

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	Verweise	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

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	Verweise
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

Art. -Nr.	Produktname	Accession	Reinheit
HY-P75585	ATOX1 Protein, Human (His)	O00244 (M1-E68)	≥ 95%, as determined by reducing SDS-PAGE.

ATOX1 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P86777	ATOX1 Antibody (YA6470)	WB, ICC/IF, IHC-P, FC	Human

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

Pre-clinical Phase

Bioactive Molecules (6)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-107636	DC_AC50	Inducer	99.98%	Unkown
HY-RS01170	ATOX1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-147373	DA-PROTAC		/	Unkown
HY-181975	ATOX1-IN-1	Inhibitor	/	Unkown
HY-RS18509	Atox1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24991	Atox1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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