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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
  • 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 Spinocerebellar Ataxia 1 and Wilson Disease. Among its related pathways are Cellular Senescence and Mineral absorption. 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATOX1 Gene

Genomics for ATOX1 Gene

Regulatory Elements for ATOX1 Gene

Enhancers for ATOX1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ATOX1 on UCSC Golden Path with GeneCards custom track

Promoters for ATOX1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATOX1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATOX1 Gene

Chromosome:
5
Start:
151,742,316 bp from pter
End:
151,772,532 bp from pter
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 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.

    Three dimensional structures from OCA and Proteopedia for ATOX1 Gene

neXtProt entry for ATOX1 Gene

Proteomics data for ATOX1 Gene at MOPED

Post-translational modifications for ATOX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATOX1 Gene

No data available for DME Specific Peptides for ATOX1 Gene

Domains & Families for ATOX1 Gene

Protein Domains for ATOX1 Gene

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 :
  • Contains 1 HMA domain.
  • Belongs to the ATX1 family.
Domain:
  • Contains 1 HMA domain.
Family:
  • Belongs to the ATX1 family.
genes like me logo Genes that share domains with ATOX1: view

No data available for Gene Families for ATOX1 Gene

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.

Gene Ontology (GO) - Molecular Function for ATOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0016531 copper chaperone activity 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 Model Products

CRISPR 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
Jensen Localization Image for ATOX1 Gene COMPARTMENTS Subcellular localization image for ATOX1 gene
Compartment Confidence
cytosol 5
plasma membrane 3
extracellular 2
golgi apparatus 2
nucleus 2
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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: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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
benzamidine Experimental Pharma Target 0
Sucrose Experimental Pharma Target 0
Copper Pharma 161

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ATOX1: view

Transcripts for ATOX1 Gene

Unigene Clusters for ATOX1 Gene

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

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 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, MOPED, and MaxQB for ATOX1 Gene



SOURCE GeneReport for Unigene cluster for ATOX1 Gene Hs.125213

mRNA Expression by UniProt/SwissProt for ATOX1 Gene

O00244-ATOX1_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with ATOX1: view

Protein tissue co-expression partners for ATOX1 Gene

Primer Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia ATOX1 35
  • 85.35 (n)
  • 83.33 (a)
ATOX1 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATOX1 35
  • 86.36 (n)
  • 83.33 (a)
ATOX1 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atox1 35
  • 87.88 (n)
  • 87.88 (a)
Atox1 16
Atox1 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATOX1 35
  • 100 (n)
  • 100 (a)
ATOX1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atox1 35
  • 86.87 (n)
  • 89.39 (a)
oppossum
(Monodelphis domestica)
Mammalia ATOX1 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATOX1 35
  • 75.25 (n)
  • 77.27 (a)
ATOX1 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATOX1 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atox1 35
  • 66.16 (n)
  • 68.18 (a)
zebrafish
(Danio rerio)
Actinopterygii atox1 35
  • 72.82 (n)
  • 72.31 (a)
atox1 36
  • 69 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10767 35
fruit fly
(Drosophila melanogaster)
Insecta Atox1 36
  • 48 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
OneToOne
Species with no ortholog for ATOX1:
  • 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 Sequence Context AA Info Type
rs10723 -- 151,742,895(-) ATCGT(G/T)TTCCT utr-variant-3-prime
rs2915824 -- 151,748,653(-) aactt(C/G)tgacc intron-variant
rs2915884 -- 151,746,750(-) TCTCA(C/G)AAAGC intron-variant
rs1060099 -- 151,743,147(+) CCAGT(G/T)TCCAG intron-variant
rs10075210 -- 151,759,421(+) TATCT(A/G)AACCT upstream-variant-2KB

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)

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

Disorders for ATOX1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
spinocerebellar ataxia 1
  • spinocerebellar ataxia type 1
wilson disease
  • cerebral pseudosclerosis
menkes disease
  • copper transport disease
hair disease
  • hair disorder
- elite association - COSMIC cancer census association via MalaCards
Search ATOX1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ATOX1

Genetic Association Database (GAD)
ATOX1
Human Genome Epidemiology (HuGE) Navigator
ATOX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATOX1
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 L.W.J. … Gitlin J.D. (J. Biol. Chem. 1997) 2 3 4 23 67
  2. 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 23
  3. Copper(I)-mediated protein-protein interactions result from suboptimal interaction surfaces. (PMID: 19453293) Banci L. … Rosato A. (Biochem. J. 2009) 3 23
  4. Analysis of the human Atox 1 homologue in Wilson patients. (PMID: 18416466) Simon I. … Stremmel W. (World J. Gastroenterol. 2008) 3 23
  5. Insights into Cu(I) exchange in HAH1 using quantum mechanical and molecular simulations. (PMID: 17616150) Op't Holt B.T. … Merz K.M. (Biochemistry 2007) 3 23

Products for ATOX1 Gene

Sources for ATOX1 Gene

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