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ATOX1 Gene

protein-coding   GIFtS: 64
GCID: GC05M151122

Antioxidant 1 Copper Chaperone

(Previous names: ATX1 (antioxidant protein 1, yeast) homolog 1, ATX1 antioxidant...)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Antioxidant 1 Copper Chaperone1 2     ATX1 Antioxidant Protein 1 Homolog (Yeast)1
HAH12 3 5     ATX12
Metal Transport Protein ATX12 3     ATX1 Antioxidant Protein 1 Homolog2
ATX1 (Antioxidant Protein 1, Yeast) Homolog 11     Copper Transport Protein ATOX12

External Ids:    HGNC: 7981   Entrez Gene: 4752   Ensembl: ENSG000001775567   OMIM: 6022705   UniProtKB: O002443   

Export aliases for ATOX1 gene to outside databases

Previous GC identifers: GC05M151191 GC05M151719 GC05M151105 GC05M151150 GC05M151102 GC05M146267


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 5q- syndrome, and menkes disease. GO annotations related to this gene include copper ion binding and copper chaperone activity.

UniProtKB/Swiss-Prot: ATOX1_HUMAN, O00244
Function: Binds and deliver cytosolic copper to the copper ATPase proteins. May be important in cellular
antioxidant defense

Gene Wiki entry for ATOX1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NC_018916.2  NT_029289.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATOX1 gene promoter:
         CREB   p53   Pax-4a   Arnt   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATOX1 promoter sequence
   Search Chromatin IP Primers for ATOX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATOX1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q32   Ensembl cytogenetic band:  5q33.1   HGNC cytogenetic band: 5q32

ATOX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATOX1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M151122:  view genomic region     (about GC identifiers)

Start:
151,121,877 bp from pter      End:
151,152,093 bp from pter
Size:
30,217 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ATOX1_HUMAN, O00244 (See protein sequence)
Recommended Name: Copper transport protein ATOX1  
Size: 68 amino acids; 7402 Da
Subunit: Interacts with ATP7B
Selected PDB 3D structures from and Proteopedia for ATOX1 (see all 10):
1FE0 (3D)        1FE4 (3D)        1FEE (3D)        1TL4 (3D)        1TL5 (3D)        2K1R (3D)    
Secondary accessions: A8KAJ8 D3DQI2 Q2M1R6 Q56AP3

Explore the universe of human proteins at neXtProt for ATOX1: NX_O00244

Explore proteomics data for ATOX1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ATOX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004036.1  
    ENSEMBL proteins: 
     ENSP00000429366   ENSP00000430028   ENSP00000429982   ENSP00000430598   ENSP00000429814  
     ENSP00000316854  
    Reactome Protein details: O00244

    ATOX1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for ATOX1
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    Novus Biologicals ATOX1 Proteins
    Novus Biologicals ATOX1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for ATOX1
    Cloud-Clone Corp. Proteins for ATOX1

    ATOX1 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for ATOX1

    ATOX1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ATOX1
    Cloud-Clone Corp. CLIAs for ATOX1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR006121 HeavyMe-assoc_HMA
     IPR017969 Heavy-metal-associated_CS

    Graphical View of Domain Structure for InterPro Entry O00244

    ProtoNet protein and cluster: O00244

    1 Blocks protein domain: IPB006121 Heavy metal transport/detoxification protein

    UniProtKB/Swiss-Prot: ATOX1_HUMAN, O00244
    Similarity: Belongs to the ATX1 family
    Similarity: Contains 1 HMA domain


    ATOX1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATOX1_HUMAN, O00244
    Function: Binds and deliver cytosolic copper to the copper ATPase proteins. May be important in cellular
    antioxidant defense

         Genatlas biochemistry entry for ATOX1:
    antioxidant protein 1,human homolog of S cerevisiae,copper binding protein Atx1p,ubiquitously expressed,involved
    in copper homeostasis

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005507copper ion binding IDA12029094
    GO:0016530metallochaperone activity TAS15670166
    GO:0016531copper chaperone activity IDA12029094
    GO:0032767copper-dependent protein binding IPI10497213
    GO:0046872metal ion binding ----
         
    ATOX1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ATOX1:
     Decreased nuclei size in G2M 

         12 MGI mutant phenotypes (inferred from 1 allele(MGI details for Atox1):
     behavior/neurological  cardiovascular system  growth/size/body  homeostasis/metabolism  integument 
     liver/biliary system  mortality/aging  nervous system  other  pigmentation 
     respiratory system  vision/eye 

    ATOX1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATOX1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ATOX1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATOX1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ATOX1

    miRNA
    Products:
        
    miRTarBase miRNAs that target ATOX1:
    hsa-mir-30a-5p (MIRT028597), hsa-mir-16-5p (MIRT031845), hsa-let-7b-5p (MIRT051900)

    Block miRNA regulation of human, mouse, rat ATOX1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATOX1 (see all 9):
    hsa-miR-137 hsa-miR-92a hsa-miR-367 hsa-miR-25 hsa-miR-32 hsa-miR-133b hsa-miR-133a hsa-miR-363
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ATOX1
    Predesigned siRNA for gene silencing in human, mouse, rat ATOX1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ATOX1

    Clone
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    OriGene clones in human, mouse for ATOX1 (see all 6)
    OriGene ORF clones in mouse, rat for ATOX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ATOX1 (NM_004045)
    Sino Biological Human cDNA Clone for ATOX1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATOX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATOX1

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATOX1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    extracellular2
    golgi apparatus1
    mitochondrion1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS12029094

    ATOX1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ATOX1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Cellular Senescence
    Cellular responses to stress0.81
    2Mineral absorption
    Mineral absorption
    3Detoxification of Reactive Oxygen Species
    Detoxification of Reactive Oxygen Species

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for ATOX1
        Detoxification of Reactive Oxygen Species


    1 Kegg Pathway  (Kegg details for ATOX1):
        Mineral absorption


    ATOX1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ATOX1: 
              Oxidative Stress in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ATOX1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for ATOX1 (O002443 ENSP000003168544) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP7AQ046563, ENSP000003457284I2D: score=3 STRING: ENSP00000345728
    FKBP4Q027903, ENSP000000010084I2D: score=1 STRING: ENSP00000001008
    ATP7BP356703, ENSP000002428394I2D: score=2 STRING: ENSP00000242839
    UBCENSP000003448184STRING: ENSP00000344818
    ZC3H14ENSP000002510384STRING: ENSP00000251038
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006825copper ion transport TAS15670166
    GO:0006878cellular copper ion homeostasis IEA--
    GO:0006979response to oxidative stress IEA--
    GO:0030001metal ion transport ----

    ATOX1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ATOX1

    1 HMDB Compound for ATOX1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CopperCu (see all 2)7440-50-8--

    2 DrugBank Compounds for ATOX1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Benzamidine-- 618-39-3target--17139284 17016423 10592235
    Sucrose-- 57-50-1target----

    Selected Novoseek inferred chemical compound relationships for ATOX1 gene (see all 20)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    copper 88.7 341 14754885 (7), 20166696 (5), 10557326 (5), 10585777 (5) (see all 99)
    plastocyanin 72.9 3 16245081 (1), 17029824 (1), 18408011 (1)
    copper(i) 71.8 3 15670166 (2), 18093982 (1)
    bicinchoninic acid 60.7 4 8080090 (1), 8031990 (1)
    iron 49.4 10 10473283 (1), 11721763 (1), 15749739 (1), 16267389 (1) (see all 9)
    methylamine 44.7 1 8363574 (1)
    imidazole 42 2 10642183 (1), 19756283 (1)
    superoxide 37.2 7 16211579 (1), 18719950 (1), 19075668 (1), 15131305 (1)
    galactose 30.2 3 19946719 (1), 9602051 (1), 15573156 (1)
    zinc 30 6 10473283 (1), 12568924 (1), 1949156 (1), 17628094 (1) (see all 6)



    ATOX1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ATOX1 gene: 
    NM_004045.3  

    Unigene Cluster for ATOX1:

    ATX1 antioxidant protein 1 homolog (yeast)
    Hs.125213  [show with all ESTs]
    Unigene Representative Sequence: AK128210
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000521264 ENST00000522145 ENST00000522314 ENST00000520382 ENST00000524142(uc003luk.3)
    ENST00000522710 ENST00000313115

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ATOX1 (see all 9):
    hsa-miR-137 hsa-miR-92a hsa-miR-367 hsa-miR-25 hsa-miR-32 hsa-miR-133b hsa-miR-133a hsa-miR-363
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ATOX1 (NM_004045)
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    Primer
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    OriGene qPCR primer pairs and template standards for ATOX1
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ATOX1
      QuantiTect SYBR Green Assays in human, mouse, rat ATOX1
      QuantiFast Probe-based Assays in human, mouse, rat ATOX1

    Additional mRNA sequence: 

    AK128210.1 AK293063.1 BC112248.1 BC112250.1 BT009786.1 CR456901.1 

    18 DOTS entries:

    DT.100799172  DT.95073073  DT.100059279  DT.120869052  DT.91897445  DT.97797010  DT.100811892  DT.95173046 
    DT.100034084  DT.100799165  DT.95173039  DT.100052985  DT.120868949  DT.120868991  DT.91742037  DT.91742041 
    DT.95173049  DT.99932873 

    Selected AceView cDNA sequences (see all 199):

    BQ650173 AI492819 AA524415 AA765974 AI375822 AA379880 BU734466 AA319103 
    AA318562 AV703250 AW953080 AI800936 AI685336 AI803960 BU071944 AK091843 
    BT009786 AA719075 BM769150 AA932500 BM707913 AI268339 AA953785 AV690589 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ATOX1 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for ATOX1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ATOX1 expression in normal human tissues (normalized intensities)      ATOX1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCGGGTGATG
    ATOX1 Expression
    About this image


    ATOX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Blood (Hematopoietic System)
             Monocytes Peripheral Blood
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Kidney (Urinary System)
     
     Thyroid (Endocrine System)
     
     Adipose (Muscoskeletal System)
    ATOX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATOX1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.125213

    UniProtKB/Swiss-Prot: ATOX1_HUMAN, O00244
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ATOX1: 
              Oxidative Stress in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ATOX1
    OriGene qSTAR qPCR primer pairs in human, mouse for ATOX1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ATOX1
    QuantiTect SYBR Green Assays in human, mouse, rat ATOX1
    QuantiFast Probe-based Assays in human, mouse, rat ATOX1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATOX1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ATOX1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atox11 , 5 ATX1 (antioxidant protein 1) homolog 1 (yeast)1, 5 87.88(n)1
    87.88(a)1
      11 (33.07 cM)5
    119271  NM_009720.21  NP_033850.11 
     554466415 
    chicken
    (Gallus gallus)
    Aves ATOX11 ATX1 antioxidant protein 1 homolog (yeast) 75.25(n)
    77.27(a)
      770231  NM_001277712.1  NP_001264641.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATOX16
    antioxidant 1 copper chaperone
    71(a)
    1 ↔ 1
    GL343248.1(10266-29874)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia atox11 antioxidant 1 copper chaperone 66.16(n)
    68.18(a)
      734100  NM_001045773.2  NP_001039238.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atox11 ATX1 antioxidant protein 1 homolog (yeast) 72.82(n)
    72.31(a)
      558347  NM_001256633.1  NP_001243562.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Atox16
    --
    48(a)
    1 ↔ 1
    3L(21634095-21635699)


    ENSEMBL Gene Tree for ATOX1 (if available)
    TreeFam Gene Tree for ATOX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ATOX1 (see all 355)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs100459551,2
    C,H--151121890(+) tttttT/Aaacca 1 -- ds50014Minor allele frequency- A:0.00NS EA 418
    rs289172221,2
    C,F--151121996(-) ACCTCT/GCAGTG 1 -- ds50016Minor allele frequency- G:0.02NS WA 302
    rs1886817711,2
    --151122085(+) CACTTA/GCTTAA 1 -- ds50010--------
    rs1417526391,2
    --151122152(+) GTCTAC/TGAAAC 1 -- ds50010--------
    rs1117527491,2
    C--151122382(+) AACATC/G/TTCCAA 1 -- ds50011CSA 1
    rs1501661391,2
    --151122386(+) TCTCCA/GACAAA 1 -- ut310--------
    rs1811667521,2
    --151122467(+) CACCCA/GGCATG 1 -- ut310--------
    rs1389314581,2
    --151122662(+) TGAGGC/TGGAAA 1 -- int10--------
    rs765385751,2
    F--151122670(+) AAAACG/ACAGGG 1 -- int11Minor allele frequency- A:0.07WA 118
    rs1454330151,2
    C--151122826(+) TGCCA-/GGATAC 1 -- int10--------

    HapMap Linkage Disequilibrium report for ATOX1 (151121877 - 151152093 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ATOX1: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATOX1
    DNA2.0 Custom Variant and Variant Library Synthesis for ATOX1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602270    OMIM disorders: --

    7 diseases for ATOX1:    About MalaCards
    5q- syndrome    menkes disease    wilson disease    primary biliary cirrhosis
    huntington's disease    choriocarcinoma    hepatitis

    2 diseases from the University of Copenhagen DISEASES database for ATOX1:
    Wilson disease     Menkes disease

    ATOX1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    4 Novoseek inferred disease relationships for ATOX1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    menkes disease 85.7 4 15133031 (1), 17420847 (1), 15670166 (1), 17616150 (1)
    wilson disease 83.4 18 10557326 (3), 20166696 (2), 18416466 (2), 12763797 (1) (see all 9)
    inflammation 0 1 16267389 (1)
    neurodegenerative diseases 0 1 17420847 (1)

    Genetic Association Database (GAD): ATOX1
    Human Genome Epidemiology (HuGE) Navigator: ATOX1 (1 document)

    Export disorders for ATOX1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ATOX1 gene, integrated from 10 sources (see all 176):
    (articles sorted by number of sources associating them with ATOX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and functional expression of HAH1, a novel human gene involved in copper homeostasis. (PubMed id 9083055)1, 2, 3, 9 Klomp L.W.J....Gitlin J.D. (J. Biol. Chem. 1997)
    2. Analysis of the human Atox 1 homologue in Wilson patients. (PubMed id 18416466)1, 4, 9 Simon I....Stremmel W. (World J. Gastroenterol. 2008)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Genomic organization of ATOX1, a human copper chaperone. (PubMed id 12594858)1, 2 Liu P.-C.... Kaler S.G. (BMC Genet. 2003)
    6. Structural basis for copper transfer by the metallochaperone for the Menkes/Wilson disease proteins. (PubMed id 10966647)1, 2 Wernimont A.K....Rosenzweig A.C. (Nat. Struct. Biol. 2000)
    7. Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis. (PubMed id 10557326)1, 9 Hamza I....Gitlin J.D. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    8. Differential roles of Met10, Thr11, and Lys60 in structural dynamics of human copper chaperone Atox1. (PubMed id 19146392)1, 9 Rodriguez-Granillo A. and Wittung-Stafshede P. (Biochemistry 2009)
    9. Role of antioxidant-1 in extracellular superoxide dismutase function and expression. (PubMed id 15761197)1, 9 Jeney V....Fukai T. (Circ. Res. 2005)
    10. Insights into Cu(I) exchange in HAH1 using quantum mechanical and molecular simulations. (PubMed id 17616150)1, 9 Op't Holt B.T. and Merz K.M. (Biochemistry 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 475 HGNC: 798 AceView: ATOX1 Ensembl:ENSG00000177556 euGenes: HUgn475
    ECgene: ATOX1 Kegg: 475 H-InvDB: ATOX1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ATOX1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ATOX1 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/atox1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATOX1 gene:
    Search GeneIP for patents involving ATOX1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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