ATOX1 Gene (Protein Coding)

Antioxidant 1 Copper Chaperone

GC05M151743
GIFtS:
41
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 o... See more...

Aliases for ATOX1 Gene

Aliases for ATOX1 Gene

  • Antioxidant 1 Copper Chaperone 2 3 5
  • HAH1 2 3 4
  • Copper Transport Protein ATOX1 3 4
  • Metal Transport Protein ATX1 3 4
  • ATX1 (Antioxidant Protein 1, Yeast) Homolog 1 2
  • ATX1 Antioxidant Protein 1 Homolog (Yeast) 2
  • ATX1 Antioxidant Protein 1 Homolog 3
  • ATOX1 5
  • ATX1 3

External Ids for ATOX1 Gene

Previous GeneCards Identifiers for ATOX1 Gene

  • GC05M151191
  • GC05M151719
  • GC05M151105
  • GC05M151150
  • GC05M151102
  • GC05M146267
  • GC05M151122

Summaries for ATOX1 Gene

Entrez Gene Summary for ATOX1 Gene

  • 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]

GeneCards Summary for ATOX1 Gene

ATOX1 (Antioxidant 1 Copper Chaperone) is a Protein Coding gene. Diseases associated with ATOX1 include Menkes Disease and Wilson Disease. Among its related pathways are Defensins and Innate Immune System. Gene Ontology (GO) annotations related to this gene include copper ion binding and copper-dependent protein binding.

UniProtKB/Swiss-Prot Summary for ATOX1 Gene

  • Binds and deliver cytosolic copper to the copper ATPase proteins. May be important in cellular antioxidant defense.

Gene Wiki entry for ATOX1 Gene

Additional gene information for ATOX1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATOX1 Gene

Genomics for ATOX1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ATOX1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATOX1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATOX1

Top Transcription factor binding sites by QIAGEN in the ATOX1 gene promoter:
  • Arnt
  • ATF
  • CREB
  • p53
  • Pax-4a

Genomic Locations for ATOX1 Gene

Latest Assembly
chr5:151,742,316-151,772,532
(GRCh38/hg38)
Size:
30,217 bases
Orientation:
Minus strand

Previous Assembly
chr5:151,122,383-151,138,192
(GRCh37/hg19 by Entrez Gene)
Size:
15,810 bases
Orientation:
Minus strand

chr5:151,121,877-151,152,093
(GRCh37/hg19 by Ensembl)
Size:
30,217 bases
Orientation:
Minus strand

Genomic View for ATOX1 Gene

Genes around ATOX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATOX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATOX1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ATOX1 Gene

Proteins for ATOX1 Gene

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  • Protein details for ATOX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00244-ATOX1_HUMAN
    Recommended name:
    Copper transport protein ATOX1
    Protein Accession:
    O00244
    Secondary Accessions:
    • A8KAJ8
    • D3DQI2
    • Q2M1R6
    • Q56AP3

    Protein attributes for ATOX1 Gene

    Size:
    68 amino acids
    Molecular mass:
    7402 Da
    Quaternary structure:
    • Interacts with ATP7B (PubMed:10966647). Interacts with ATP7A (PubMed:21667063).

    Three dimensional structures from OCA and Proteopedia for ATOX1 Gene

neXtProt entry for ATOX1 Gene

Protein Expression for ATOX1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ATOX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATOX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for ATOX1
  • Boster Bio Antibodies for ATOX1

No data available for DME Specific Peptides for ATOX1 Gene

Domains & Families for ATOX1 Gene

Gene Families for ATOX1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ATOX1 Gene

InterPro:
Blocks:
  • Heavy metal transport/detoxification protein

Suggested Antigen Peptide Sequences for ATOX1 Gene

GenScript: Design optimal peptide antigens:
  • Metal transport protein ATX1 (ATOX1_HUMAN)
  • ATOX1 protein (Q6IBA3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00244

UniProtKB/Swiss-Prot:

ATOX1_HUMAN :
  • Belongs to the ATX1 family.
Family:
  • Belongs to the ATX1 family.
genes like me logo Genes that share domains with ATOX1: view

Function for ATOX1 Gene

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  2. CRISPR products for research
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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for ATOX1 Gene

UniProtKB/Swiss-Prot Function:
Binds and deliver cytosolic copper to the copper ATPase proteins. May be important in cellular antioxidant defense.
GENATLAS Biochemistry:
antioxidant protein 1,human homolog of S cerevisiae,copper binding protein Atx1p,ubiquitously expressed,involved in copper homeostasis

Phenotypes From GWAS Catalog for ATOX1 Gene

Gene Ontology (GO) - Molecular Function for ATOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005507 copper ion binding IDA 12029094
GO:0005515 protein binding IPI 12968035
GO:0016530 metallochaperone activity TAS 15670166
GO:0016531 copper chaperone activity IBA,IDA 12029094
GO:0032767 copper-dependent protein binding IPI 10497213
genes like me logo Genes that share ontologies with ATOX1: view
genes like me logo Genes that share phenotypes with ATOX1: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATOX1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATOX1 Gene

Localization for ATOX1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATOX1 gene
Compartment Confidence
cytosol 5
plasma membrane 3
extracellular 3
nucleus 3
golgi apparatus 3
mitochondrion 2
endosome 2
lysosome 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IBA,TAS 12029094
genes like me logo Genes that share ontologies with ATOX1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ATOX1 Gene

Pathways & Interactions for ATOX1 Gene

genes like me logo Genes that share pathways with ATOX1: view

Pathways by source for ATOX1 Gene

1 BioSystems pathway for ATOX1 Gene
1 KEGG pathway for ATOX1 Gene

Gene Ontology (GO) - Biological Process for ATOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006825 copper ion transport TAS 15670166
GO:0006878 cellular copper ion homeostasis TAS,IBA 21873635
GO:0006979 response to oxidative stress TAS,IBA 21873635
GO:0030001 metal ion transport IEA --
genes like me logo Genes that share ontologies with ATOX1: view

No data available for SIGNOR curated interactions for ATOX1 Gene

Drugs & Compounds for ATOX1 Gene

Products:

  1. Drug products for research

(18) Drugs for ATOX1 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Carrier, binder 276
Cisplatin Approved Pharma Target Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 3624
Sucrose Approved, Experimental, Investigational Pharma Target 0
benzamidine Experimental Pharma Target 0
DC_AC50 Pharma Selective Atox1 and CCS inhibitor 0

(6) Additional Compounds for ATOX1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for ATOX1 Gene

Compound Action Cas Number
DC_AC50 Selective Atox1 and CCS inhibitor 497061-48-0
genes like me logo Genes that share compounds with ATOX1: view

Drug products for research

Transcripts for ATOX1 Gene

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mRNA/cDNA for ATOX1 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATOX1

Alternative Splicing Database (ASD) splice patterns (SP) for ATOX1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b
SP1: - -
SP2: - - -
SP3: - - -
SP4: -
SP5: - - - -
SP6: - -

Relevant External Links for ATOX1 Gene

GeneLoc Exon Structure for
ATOX1

Expression for ATOX1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATOX1 Gene

mRNA expression in normal human tissues for ATOX1 Gene
mRNA expression by GTEx for ATOX1 GenemRNA expression by BioGPS for ATOX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ATOX1 Gene

This gene is overexpressed in Fetal ovary (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATOX1 Gene



Protein tissue co-expression partners for ATOX1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATOX1

SOURCE GeneReport for Unigene cluster for ATOX1 Gene:

Hs.125213

mRNA Expression by UniProt/SwissProt for ATOX1 Gene:

O00244-ATOX1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for ATOX1 Gene

  • Liver(4.6)
  • Nervous system(2.9)
  • Kidney(2.9)
  • Intestine(2.7)
  • Skin(2.6)
  • Heart(2.5)
  • Muscle(2.4)
  • Spleen(2.2)
  • Stomach(2.2)
  • Bone marrow(2.1)
  • Blood(2.1)
  • Thyroid gland(2.1)
  • Lung(2)
genes like me logo Genes that share expression patterns with ATOX1: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATOX1 Gene

Orthologs for ATOX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATOX1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ATOX1 29 30
  • 100 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Atox1 29 16 30
  • 87.88 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Atox1 29
  • 86.87 (n)
Dog
(Canis familiaris)
 Mammalia ATOX1 29 30
  • 86.36 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ATOX1 29 30
  • 85.35 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ATOX1 30
  • 75 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ATOX1 29 30
  • 75.25 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ATOX1 30
  • 71 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia atox1 29
  • 66.16 (n)
Zebrafish
(Danio rerio)
 Actinopterygii atox1 29 30
  • 72.82 (n)
 OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.10767 29
Fruit Fly
(Drosophila melanogaster)
 Insecta Atox1 30
  • 48 (a)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 51 (a)
 OneToOne
Species where no ortholog for ATOX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ATOX1 Gene

ENSEMBL:
Gene Tree for ATOX1 (if available)
TreeFam:
Gene Tree for ATOX1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATOX1: view image
Alliance of Genome Resources:
Additional Orthologs for ATOX1

Paralogs for ATOX1 Gene

No data available for Paralogs for ATOX1 Gene

Variants for ATOX1 Gene

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  1. SNP Genotyping and Copy Number Assays for research

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ATOX1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for ATOX1 Gene

Residual Variation Intolerance Score: 61.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.28; 6.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATOX1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATOX1
Leiden Open Variation Database (LOVD)
ATOX1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for ATOX1 Gene

Disorders for ATOX1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for ATOX1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
menkes disease
  • mnk
wilson disease
  • wnd
occipital horn syndrome
  • ohs
metal metabolism disorder
  • inborn metal metabolism disorder
spinal muscular atrophy, distal, x-linked 3
  • smax3
- elite association - COSMIC cancer census association via MalaCards
Search ATOX1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ATOX1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ATOX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATOX1 Gene

Publications for ATOX1 Gene

  1. Identification and functional expression of HAH1, a novel human gene involved in copper homeostasis. (PMID: 9083055) Klomp LW … Gitlin JD (The Journal of biological chemistry 1997) 2 3 4 22
  2. Analysis of the human Atox 1 homologue in Wilson patients. (PMID: 18416466) Simon I … Stremmel W (World journal of gastroenterology 2008) 3 22 40
  3. The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression. (PMID: 21667063) Vonk WI … van de Sluis B (Cellular and molecular life sciences : CMLS 2012) 3 4
  4. Differential roles of Met10, Thr11, and Lys60 in structural dynamics of human copper chaperone Atox1. (PMID: 19146392) Rodriguez-Granillo A … Wittung-Stafshede P (Biochemistry 2009) 3 22
  5. Copper(I)-mediated protein-protein interactions result from suboptimal interaction surfaces. (PMID: 19453293) Banci L … Rosato A (The Biochemical journal 2009) 3 22

ExternalLinks

View latest publications for ATOX1 gene in Mastermind

Products for ATOX1 Gene

Sources for ATOX1 Gene