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Aliases for ATOX1 Gene

Aliases for ATOX1 Gene

  • Antioxidant 1 Copper Chaperone 2 3 5
  • Metal Transport Protein ATX1 3 4
  • HAH1 3 4
  • ATX1 (Antioxidant Protein 1, Yeast) Homolog 1 2
  • ATX1 Antioxidant Protein 1 Homolog (Yeast) 2
  • ATX1 Antioxidant Protein 1 Homolog 3
  • Copper Transport Protein ATOX1 3
  • 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 Wilson Disease and Menkes Disease. Among its related pathways are Innate Immune System and Detoxification of Reactive Oxygen Species. Gene Ontology (GO) annotations related to this gene include copper ion binding and copper-dependent protein binding.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for ATOX1 Gene

Genomics for ATOX1 Gene

GeneHancer (GH) Regulatory Elements for ATOX1 Gene

Promoters and enhancers for ATOX1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I151769 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.0 45 5.2 PKNOX1 CLOCK FOXA2 SMAD1 MLX ARNT ZFP64 ARID4B NEUROD1 SIN3A G3BP1 ATOX1 GC05M151769 LOC100652758 RPLP1P6 SMIM3 SPARC CCDC69 LOC105378231
GH05I151753 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.4 +15.9 15925 6 HDGF PKNOX1 FOXA2 SMAD1 MLX ARID4B SIN3A FEZF1 ZNF2 YY1 ATOX1 RPLP1P6 ZNF300P1 LOC105378235
GH05I151668 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.3 +94.2 94230 20 PKNOX1 SIN3A BMI1 RFX5 ZNF335 EGR1 SCRT2 RCOR1 FOS RUNX3 CLMAT3 SPARC LOC105378231 LOC105378235 RPLP1P6 ATOX1 G3BP1
GH05I151692 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12.5 +75.7 75657 9.5 ARID4B THRB RARA SCRT2 FOS CREM THAP11 SP5 CEBPB MIER2 RPLP1P6 ATOX1 G3BP1 SPARC CLMAT3 LOC105378231 RN7SKP232
GH05I151737 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.7 +30.5 30473 9.9 PKNOX1 ZNF529 SIN3A BATF IRF4 RAD21 ZNF143 ATF7 RCOR1 FOS RPLP1P6 ZNF300 G3BP1 ATOX1 SPARC GC05M151735 LOC105378235
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATOX1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATOX1 gene promoter:

Genomic Locations for ATOX1 Gene

Genomic Locations for ATOX1 Gene
chr5:151,742,316-151,772,532
(GRCh38/hg38)
Size:
30,217 bases
Orientation:
Minus strand
chr5:151,121,877-151,152,093
(GRCh37/hg19)

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 StructureGene Density

RefSeq DNA sequence for ATOX1 Gene

Proteins for ATOX1 Gene

  • 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

Post-translational modifications for ATOX1 Gene

No Post-translational modifications

Other Protein References for ATOX1 Gene

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

Suggested Antigen Peptide Sequences for ATOX1 Gene

GenScript: Design optimal peptide antigens:

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

Molecular function for ATOX1 Gene

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

Phenotypes From GWAS Catalog for ATOX1 Gene

Gene Ontology (GO) - Molecular Function for ATOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005375 copper ion transmembrane transporter activity IEA --
GO:0005507 copper ion binding IDA 12029094
GO:0005515 protein binding IPI 12968035
GO:0016530 metallochaperone activity TAS 15670166
GO:0016531 copper chaperone activity IDA 12029094
genes like me logo Genes that share ontologies with ATOX1: view
genes like me logo Genes that share phenotypes with ATOX1: view

Clone Products

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
nucleus 3
extracellular 2
golgi apparatus 2
mitochondrion 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 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 KEGG pathway for ATOX1 Gene

Gene Ontology (GO) - Biological Process for ATOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006825 copper ion transport TAS 15670166
GO:0006878 cellular copper ion homeostasis IBA,TAS --
GO:0006979 response to oxidative stress IBA --
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

(17) 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 202
Cisplatin Approved Pharma Target Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 2906
Sucrose Approved, Experimental, Investigational Pharma Target 0
benzamidine Experimental Pharma Target 0
DC_AC50 Pharma Selective Atox1 and CCS inhibitor 0

(7) 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

Transcripts for ATOX1 Gene

Unigene Clusters for ATOX1 Gene

ATX1 antioxidant protein 1 homolog (yeast):
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
ATOX1

Expression for ATOX1 Gene

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



Protein tissue co-expression partners for ATOX1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ATOX1 Gene:

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(4.5)
  • Nervous system(2.6)
  • Intestine(2.3)
genes like me logo Genes that share expression patterns with ATOX1: view

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 33 34
  • 100 (n)
mouse
(Mus musculus)
Mammalia Atox1 33 16 34
  • 87.88 (n)
rat
(Rattus norvegicus)
Mammalia Atox1 33
  • 86.87 (n)
dog
(Canis familiaris)
Mammalia ATOX1 33 34
  • 86.36 (n)
cow
(Bos Taurus)
Mammalia ATOX1 33 34
  • 85.35 (n)
oppossum
(Monodelphis domestica)
Mammalia ATOX1 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATOX1 33 34
  • 75.25 (n)
lizard
(Anolis carolinensis)
Reptilia ATOX1 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atox1 33
  • 66.16 (n)
zebrafish
(Danio rerio)
Actinopterygii atox1 33 34
  • 72.82 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10767 33
fruit fly
(Drosophila melanogaster)
Insecta Atox1 34
  • 48 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
OneToOne
Species where no ortholog for ATOX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for ATOX1 Gene

No data available for Paralogs for ATOX1 Gene

Variants for ATOX1 Gene

Sequence variations from dbSNP and Humsavar for ATOX1 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000023217 -- 151,743,840(-) T/C intron_variant
rs1000084165 -- 151,749,846(-) C/T intron_variant
rs1000176831 -- 151,757,963(-) GGGGGGG/GGGGGGGG intron_variant
rs1000754403 -- 151,758,250(-) C/A intron_variant
rs1000792448 -- 151,756,067(-) G/A intron_variant

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ATOX1 Gene

Disorders for ATOX1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ATOX1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
wilson disease
  • wnd; wd
menkes disease
  • mk; mnk
- 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

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  2. Analysis of the human Atox 1 homologue in Wilson patients. (PMID: 18416466) Simon I … Stremmel W (World journal of gastroenterology 2008) 3 22 44 58
  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 58
  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 58
  5. Copper(I)-mediated protein-protein interactions result from suboptimal interaction surfaces. (PMID: 19453293) Banci L … Rosato A (The Biochemical journal 2009) 3 22 58

Products for ATOX1 Gene

Sources for ATOX1 Gene

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